Item | Value |
---|---|
geneid | 9857 |
ensemblid | ENSG00000135837.17 |
hgncid | 24238 |
symbol | CEP350 |
name | centrosomal protein 350 |
refseq_nuc | NM_014810.5 |
refseq_prot | NP_055625.4 |
ensembl_nuc | ENST00000367607.8 |
ensembl_prot | ENSP00000356579.3 |
mane_status | MANE Select |
chr | chr1 |
start | 179954810 |
end | 180114875 |
strand | + |
ver | v1.2 |
region | chr1:179954810-180114875 |
region5000 | chr1:179949810-180119875 |
regionname0 | CEP350_chr1_179954810_180114875 |
regionname5000 | CEP350_chr1_179949810_180119875 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/1 | 3117 | 88 | 14 | 19 | 42 | 4 | 8 | 31 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0002 | 1/0 | 3117 | 54 | 36 | 12 | 4 | 0 | 1 | 2 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0003 | 0/0 | 3117 | 43 | 2 | 1 | 34 | 1 | 5 | 26 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0004 | 0/0 | 3117 | 16 | 10 | 1 | 0 | 2 | 3 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0005 | 0/0 | 3117 | 10 | 3 | 1 | 3 | 0 | 3 | 2 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0006 | 0/0 | 3117 | 6 | 0 | 4 | 0 | 1 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0007 | 0/0 | 3117 | 6 | 5 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0008 | 0/0 | 3117 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0009 | 0/0 | 3117 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0010 | 0/0 | 3117 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0011 | 0/0 | 3117 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0012 | 0/0 | 3117 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0013 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0014 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0015 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0016 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0017 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0018 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0019 | 0/0 | 3117 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0020 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0021 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0022 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0023 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
a0024 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | MRSSK others(3112): Show |
chr1 | 179949810 | 180119875 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 9351 | 85 | 14 | 19 | 39 | 4 | 8 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0001c0011 | 0/0 | 9351 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0001c0033 | 0/0 | 9351 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0002c0002 | 1/0 | 9351 | 46 | 29 | 11 | 4 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0002c0007 | 0/0 | 9351 | 5 | 5 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0002c0016 | 0/0 | 9351 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0002c0020 | 0/0 | 9351 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0002c0022 | 0/0 | 9351 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0003c0003 | 0/0 | 9351 | 41 | 2 | 1 | 32 | 1 | 5 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0003c0013 | 0/0 | 9351 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0004c0004 | 0/0 | 9351 | 16 | 10 | 1 | 0 | 2 | 3 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0005c0005 | 0/0 | 9351 | 10 | 3 | 1 | 3 | 0 | 3 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0006c0008 | 0/0 | 9351 | 5 | 0 | 3 | 0 | 1 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0006c0031 | 0/0 | 9351 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0007c0006 | 0/0 | 9351 | 6 | 5 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0008c0015 | 0/0 | 9351 | 2 | 2 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0008c0029 | 0/0 | 9351 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0009c0009 | 0/0 | 9351 | 3 | 3 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0010c0010 | 0/0 | 9351 | 3 | 3 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0011c0012 | 0/0 | 9351 | 2 | 2 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0012c0014 | 0/0 | 9351 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0013c0021 | 0/0 | 9351 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0014c0017 | 0/0 | 9351 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0015c0019 | 0/0 | 9351 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0016c0018 | 0/0 | 9351 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0017c0024 | 0/0 | 9351 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0018c0032 | 0/0 | 9351 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0019c0025 | 0/0 | 9351 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0020c0027 | 0/0 | 9351 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0021c0026 | 0/0 | 9351 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0022c0030 | 0/0 | 9351 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0023c0028 | 0/0 | 9351 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 | ||
a0024c0023 | 0/0 | 9351 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | ATGAG others(9346): Show |
chr1 | 179949810 | 180119875 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 13415 | 81 | 14 | 17 | 38 | 4 | 7 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0001c0001t0012 | 0/0 | 13415 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0001c0001t0014 | 0/0 | 13415 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0001c0001t0017 | 0/0 | 13415 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0001c0001t0018 | 0/0 | 13415 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0001c0011t0001 | 0/0 | 13415 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0001c0033t0001 | 0/0 | 13415 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0002c0002t0002 | 1/0 | 13414 | 13 | 11 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0002c0002t0003 | 0/0 | 13414 | 3 | 3 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0002c0002t0004 | 0/0 | 13412 | 15 | 8 | 4 | 3 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13407): Show |
chr1 | 179949810 | 180119875 |
a0002c0002t0005 | 0/0 | 13414 | 7 | 1 | 6 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0002c0002t0007 | 0/0 | 13414 | 5 | 4 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0002c0002t0015 | 0/0 | 13413 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13408): Show |
chr1 | 179949810 | 180119875 |
a0002c0002t0016 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0002c0002t0020 | 0/0 | 13412 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13407): Show |
chr1 | 179949810 | 180119875 |
a0002c0007t0002 | 0/0 | 13414 | 5 | 5 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0002c0016t0003 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0002c0020t0019 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0002c0022t0002 | 0/0 | 13414 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0003c0003t0001 | 0/0 | 13415 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0003c0003t0002 | 0/0 | 13414 | 40 | 2 | 1 | 31 | 1 | 5 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0003c0013t0002 | 0/0 | 13414 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0004c0004t0003 | 0/0 | 13414 | 16 | 10 | 1 | 0 | 2 | 3 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0005c0005t0002 | 0/0 | 13414 | 10 | 3 | 1 | 3 | 0 | 3 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0006c0008t0006 | 0/0 | 13413 | 4 | 0 | 3 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13408): Show |
chr1 | 179949810 | 180119875 |
a0006c0008t0011 | 0/0 | 13413 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13408): Show |
chr1 | 179949810 | 180119875 |
a0006c0031t0006 | 0/0 | 13413 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13408): Show |
chr1 | 179949810 | 180119875 |
a0007c0006t0002 | 0/0 | 13414 | 6 | 5 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0008c0015t0002 | 0/0 | 13414 | 2 | 2 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0008c0029t0010 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0009c0009t0008 | 0/0 | 13414 | 3 | 3 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0010c0010t0002 | 0/0 | 13414 | 3 | 3 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0011c0012t0009 | 0/0 | 13414 | 2 | 2 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0012c0014t0002 | 0/0 | 13414 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0013c0021t0004 | 0/0 | 13412 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13407): Show |
chr1 | 179949810 | 180119875 |
a0014c0017t0001 | 0/0 | 13415 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0015c0019t0001 | 0/0 | 13415 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0016c0018t0001 | 0/0 | 13415 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0017c0024t0001 | 0/0 | 13415 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0018c0032t0002 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0019c0025t0013 | 0/0 | 13415 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0020c0027t0002 | 0/0 | 13414 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0021c0026t0001 | 0/0 | 13415 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0022c0030t0001 | 0/0 | 13415 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13410): Show |
chr1 | 179949810 | 180119875 |
a0023c0028t0010 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
a0024c0023t0002 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | AGTTG others(13409): Show |
chr1 | 179949810 | 180119875 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0200 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0012g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0014g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0017g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0018g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0011t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0011t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0033t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0074 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0003g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0003g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0007g0002 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0007g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0007g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0007g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0015g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0016g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0020g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0007t0002g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0007t0002g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0007t0002g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0007t0002g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0007t0002g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0016t0003g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0020t0019g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0022t0002g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0105 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0013t0002g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0013t0002g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0061 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0062 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0006c0008t0006g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0006c0008t0006g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0006c0008t0006g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0006c0008t0006g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0006c0008t0011g0017 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0006c0031t0006g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0007c0006t0002g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0007c0006t0002g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0007c0006t0002g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0007c0006t0002g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0007c0006t0002g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0007c0006t0002g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0008c0015t0002g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0008c0015t0002g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0008c0029t0010g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0009c0009t0008g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0009c0009t0008g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0009c0009t0008g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0010c0010t0002g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0010c0010t0002g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0010c0010t0002g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0011c0012t0009g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0011c0012t0009g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0012c0014t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0012c0014t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0013c0021t0004g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0014c0017t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0015c0019t0001g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0016c0018t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0017c0024t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0018c0032t0002g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0019c0025t0013g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0020c0027t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0021c0026t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0022c0030t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0023c0028t0010g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0024c0023t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00323 | hp1 | a0006 | c0008 | t0011 | g0017 | EUR | FIN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00323 | hp2 | a0001 | c0001 | t0001 | g0070 | EUR | FIN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00544 | hp1 | a0003 | c0003 | t0002 | g0112 | EAS | CHS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0158 | EAS | CHS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | CHS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00558 | hp2 | a0002 | c0002 | t0020 | g0035 | EAS | CHS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00597 | hp1 | a0013 | c0021 | t0004 | g0032 | EAS | CHS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0167 | EAS | CHS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00639 | hp1 | a0002 | c0002 | t0005 | g0133 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0149 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00733 | hp1 | a0014 | c0017 | t0001 | g0161 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00733 | hp2 | a0002 | c0002 | t0005 | g0128 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00738 | hp1 | a0002 | c0002 | t0004 | g0033 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00738 | hp2 | a0006 | c0031 | t0006 | g0018 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01069 | hp1 | a0002 | c0002 | t0007 | g0002 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01069 | hp2 | a0001 | c0001 | t0001 | g0153 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01074 | hp1 | a0005 | c0005 | t0002 | g0125 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01074 | hp2 | a0007 | c0006 | t0002 | g0231 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0240 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01099 | hp2 | a0002 | c0002 | t0005 | g0122 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01109 | hp1 | a0015 | c0019 | t0001 | g0223 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01109 | hp2 | a0002 | c0002 | t0004 | g0030 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0182 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01167 | hp2 | a0002 | c0002 | t0005 | g0124 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01168 | hp1 | a0002 | c0002 | t0004 | g0036 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01168 | hp2 | a0001 | c0001 | t0001 | g0202 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01169 | hp1 | a0002 | c0002 | t0004 | g0037 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01169 | hp2 | a0002 | c0002 | t0005 | g0134 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01175 | hp1 | a0002 | c0002 | t0005 | g0135 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01175 | hp2 | a0001 | c0001 | t0001 | g0071 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01192 | hp1 | a0001 | c0001 | t0001 | g0038 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01192 | hp2 | a0001 | c0001 | t0014 | g0205 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01243 | hp1 | a0002 | c0022 | t0002 | g0003 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0168 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0166 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01256 | hp2 | a0006 | c0008 | t0006 | g0014 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01258 | hp1 | a0001 | c0001 | t0001 | g0196 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01258 | hp2 | a0006 | c0008 | t0006 | g0015 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01261 | hp1 | a0003 | c0003 | t0002 | g0236 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01261 | hp2 | a0001 | c0001 | t0001 | g0069 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01346 | hp1 | a0004 | c0004 | t0003 | g0057 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0171 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0183 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01496 | hp2 | a0001 | c0001 | t0017 | g0207 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01516 | hp1 | a0004 | c0004 | t0003 | g0062 | EUR | IBS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0225 | EUR | IBS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01517 | hp1 | a0004 | c0004 | t0003 | g0061 | EUR | IBS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01517 | hp2 | a0001 | c0001 | t0001 | g0072 | EUR | IBS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01891 | hp1 | a0005 | c0005 | t0002 | g0138 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01891 | hp2 | a0001 | c0001 | t0001 | g0219 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01928 | hp1 | a0001 | c0001 | t0001 | g0184 | AMR | PEL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0145 | AMR | PEL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02004 | hp1 | a0001 | c0001 | t0001 | g0169 | AMR | PEL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02004 | hp2 | a0016 | c0018 | t0001 | g0040 | AMR | PEL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02015 | hp1 | a0003 | c0003 | t0002 | g0098 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02015 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02027 | hp1 | a0003 | c0003 | t0002 | g0100 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02027 | hp2 | a0001 | c0001 | t0001 | g0177 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02040 | hp1 | a0003 | c0003 | t0002 | g0108 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02040 | hp2 | a0001 | c0001 | t0001 | g0180 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02055 | hp1 | a0002 | c0002 | t0003 | g0044 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02055 | hp2 | a0001 | c0001 | t0001 | g0218 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02056 | hp1 | a0003 | c0003 | t0002 | g0091 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02056 | hp2 | a0005 | c0005 | t0002 | g0137 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02080 | hp1 | a0001 | c0001 | t0001 | g0178 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02080 | hp2 | a0001 | c0001 | t0012 | g0193 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02129 | hp1 | a0002 | c0002 | t0004 | g0021 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02129 | hp2 | a0017 | c0024 | t0001 | g0154 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02135 | hp1 | a0001 | c0001 | t0001 | g0179 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02135 | hp2 | a0003 | c0003 | t0002 | g0102 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02165 | hp1 | a0003 | c0003 | t0002 | g0097 | EAS | CDX | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02165 | hp2 | a0001 | c0011 | t0001 | g0157 | EAS | CDX | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02257 | hp1 | a0004 | c0004 | t0003 | g0048 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02257 | hp2 | a0002 | c0002 | t0004 | g0029 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02258 | hp1 | a0002 | c0007 | t0002 | g0058 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02258 | hp2 | a0002 | c0002 | t0007 | g0002 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02280 | hp1 | a0001 | c0001 | t0001 | g0211 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02280 | hp2 | a0004 | c0004 | t0003 | g0047 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02451 | hp1 | a0003 | c0003 | t0002 | g0079 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02451 | hp2 | a0002 | c0002 | t0003 | g0001 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02572 | hp1 | a0002 | c0002 | t0015 | g0020 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02572 | hp2 | a0003 | c0003 | t0002 | g0080 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02615 | hp1 | a0018 | c0032 | t0002 | g0129 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02615 | hp2 | a0002 | c0016 | t0003 | g0045 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02622 | hp1 | a0002 | c0002 | t0007 | g0068 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02622 | hp2 | a0008 | c0015 | t0002 | g0132 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02647 | hp1 | a0002 | c0002 | t0004 | g0022 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02647 | hp2 | a0004 | c0004 | t0003 | g0053 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02698 | hp1 | a0004 | c0004 | t0003 | g0063 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02698 | hp2 | a0002 | c0002 | t0002 | g0127 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02717 | hp1 | a0001 | c0001 | t0001 | g0039 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02717 | hp2 | a0002 | c0002 | t0016 | g0246 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02723 | hp1 | a0002 | c0020 | t0019 | g0011 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02723 | hp2 | a0007 | c0006 | t0002 | g0042 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02809 | hp1 | a0009 | c0009 | t0008 | g0009 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02809 | hp2 | a0002 | c0002 | t0002 | g0004 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02818 | hp1 | a0001 | c0001 | t0001 | g0041 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02818 | hp2 | a0010 | c0010 | t0002 | g0237 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02886 | hp1 | a0002 | c0002 | t0004 | g0023 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02886 | hp2 | a0002 | c0002 | t0002 | g0130 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02895 | hp1 | a0001 | c0001 | t0001 | g0213 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02895 | hp2 | a0002 | c0002 | t0007 | g0064 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02896 | hp1 | a0010 | c0010 | t0002 | g0238 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02896 | hp2 | a0004 | c0004 | t0003 | g0046 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02897 | hp1 | a0010 | c0010 | t0002 | g0239 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02897 | hp2 | a0001 | c0001 | t0001 | g0212 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02922 | hp1 | a0001 | c0001 | t0001 | g0192 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02922 | hp2 | a0007 | c0006 | t0002 | g0229 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02965 | hp1 | a0007 | c0006 | t0002 | g0228 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02965 | hp2 | a0004 | c0004 | t0003 | g0052 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02976 | hp1 | a0001 | c0001 | t0001 | g0152 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02976 | hp2 | a0005 | c0005 | t0002 | g0126 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03041 | hp1 | a0002 | c0002 | t0002 | g0006 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03041 | hp2 | a0011 | c0012 | t0009 | g0066 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03098 | hp1 | a0002 | c0007 | t0002 | g0241 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03098 | hp2 | a0002 | c0002 | t0004 | g0024 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03130 | hp1 | a0002 | c0002 | t0004 | g0026 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03130 | hp2 | a0002 | c0007 | t0002 | g0060 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03195 | hp1 | a0004 | c0004 | t0003 | g0056 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03195 | hp2 | a0007 | c0006 | t0002 | g0227 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03239 | hp1 | a0004 | c0004 | t0003 | g0051 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0151 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03453 | hp1 | a0002 | c0002 | t0003 | g0001 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03453 | hp2 | a0009 | c0009 | t0008 | g0008 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03486 | hp1 | a0002 | c0007 | t0002 | g0242 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03486 | hp2 | a0002 | c0002 | t0002 | g0076 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03490 | hp1 | a0003 | c0003 | t0002 | g0085 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03490 | hp2 | a0019 | c0025 | t0013 | g0176 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03492 | hp1 | a0003 | c0003 | t0002 | g0104 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03492 | hp2 | a0001 | c0001 | t0001 | g0201 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03516 | hp1 | a0002 | c0002 | t0004 | g0025 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03516 | hp2 | a0001 | c0001 | t0001 | g0214 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03540 | hp1 | a0002 | c0002 | t0002 | g0005 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03540 | hp2 | a0008 | c0015 | t0002 | g0131 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03579 | hp1 | a0002 | c0002 | t0007 | g0067 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03579 | hp2 | a0002 | c0002 | t0004 | g0028 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03654 | hp1 | a0006 | c0008 | t0006 | g0016 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03654 | hp2 | a0001 | c0001 | t0001 | g0204 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03669 | hp1 | a0005 | c0005 | t0002 | g0143 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03669 | hp2 | a0001 | c0001 | t0018 | g0175 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03834 | hp1 | a0005 | c0005 | t0002 | g0141 | SAS | BEB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0206 | SAS | BEB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03942 | hp1 | a0003 | c0003 | t0002 | g0101 | SAS | BEB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03942 | hp2 | a0004 | c0004 | t0003 | g0043 | SAS | BEB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG04204 | hp1 | a0001 | c0001 | t0001 | g0164 | SAS | STU | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG04204 | hp2 | a0003 | c0003 | t0002 | g0096 | SAS | STU | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0170 | SAS | STU | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG04228 | hp2 | a0003 | c0003 | t0002 | g0078 | SAS | STU | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18522 | hp1 | a0004 | c0004 | t0003 | g0049 | AFR | YRI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18522 | hp2 | a0002 | c0002 | t0004 | g0027 | AFR | YRI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18612 | hp1 | a0003 | c0003 | t0002 | g0086 | EAS | CHB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0186 | EAS | CHB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18906 | hp1 | a0001 | c0001 | t0001 | g0222 | AFR | YRI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18906 | hp2 | a0004 | c0004 | t0003 | g0054 | AFR | YRI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18941 | hp1 | a0003 | c0003 | t0002 | g0120 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18941 | hp2 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18943 | hp1 | a0001 | c0001 | t0001 | g0234 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18943 | hp2 | a0003 | c0003 | t0002 | g0084 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18946 | hp1 | a0003 | c0003 | t0002 | g0121 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18946 | hp2 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18947 | hp1 | a0003 | c0003 | t0002 | g0099 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18947 | hp2 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18948 | hp1 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18948 | hp2 | a0002 | c0002 | t0004 | g0034 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18949 | hp1 | a0001 | c0001 | t0001 | g0232 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18949 | hp2 | a0003 | c0003 | t0002 | g0103 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18950 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18950 | hp2 | a0003 | c0003 | t0002 | g0081 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18953 | hp1 | a0001 | c0001 | t0001 | g0194 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18953 | hp2 | a0020 | c0027 | t0002 | g0083 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18956 | hp1 | a0012 | c0014 | t0002 | g0088 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18956 | hp2 | a0001 | c0001 | t0001 | g0220 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18961 | hp1 | a0012 | c0014 | t0002 | g0087 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18961 | hp2 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18967 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18967 | hp2 | a0003 | c0003 | t0002 | g0106 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18971 | hp1 | a0001 | c0001 | t0001 | g0162 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18971 | hp2 | a0003 | c0013 | t0002 | g0110 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18975 | hp1 | a0005 | c0005 | t0002 | g0139 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18975 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18978 | hp1 | a0001 | c0001 | t0001 | g0233 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18978 | hp2 | a0003 | c0003 | t0002 | g0107 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18979 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18979 | hp2 | a0003 | c0003 | t0002 | g0094 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18988 | hp1 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18988 | hp2 | a0003 | c0003 | t0002 | g0119 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18990 | hp1 | a0003 | c0003 | t0002 | g0115 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18990 | hp2 | a0001 | c0001 | t0001 | g0195 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18995 | hp1 | a0003 | c0003 | t0002 | g0095 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18995 | hp2 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18998 | hp1 | a0021 | c0026 | t0001 | g0181 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18998 | hp2 | a0003 | c0003 | t0002 | g0117 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19002 | hp1 | a0003 | c0003 | t0002 | g0082 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19002 | hp2 | a0001 | c0001 | t0001 | g0226 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19004 | hp2 | a0003 | c0003 | t0001 | g0092 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19005 | hp1 | a0005 | c0005 | t0002 | g0140 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19005 | hp2 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19012 | hp1 | a0003 | c0013 | t0002 | g0109 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19012 | hp2 | a0022 | c0030 | t0001 | g0217 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19030 | hp1 | a0002 | c0002 | t0002 | g0243 | AFR | LWK | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19030 | hp2 | a0008 | c0029 | t0010 | g0012 | AFR | LWK | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19043 | hp1 | a0023 | c0028 | t0010 | g0013 | AFR | LWK | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19043 | hp2 | a0002 | c0007 | t0002 | g0059 | AFR | LWK | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19055 | hp1 | a0001 | c0001 | t0001 | g0198 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19055 | hp2 | a0003 | c0003 | t0002 | g0111 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19062 | hp1 | a0001 | c0011 | t0001 | g0148 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19062 | hp2 | a0003 | c0003 | t0002 | g0118 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19063 | hp1 | a0001 | c0001 | t0001 | g0199 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19063 | hp2 | a0003 | c0003 | t0002 | g0224 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19068 | hp1 | a0003 | c0003 | t0002 | g0113 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19068 | hp2 | a0001 | c0001 | t0001 | g0216 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19074 | hp1 | a0003 | c0003 | t0002 | g0093 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19074 | hp2 | a0001 | c0001 | t0001 | g0215 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19078 | hp1 | a0003 | c0003 | t0002 | g0090 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19078 | hp2 | a0001 | c0001 | t0001 | g0188 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19081 | hp1 | a0001 | c0033 | t0001 | g0174 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19081 | hp2 | a0002 | c0002 | t0004 | g0031 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19083 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19083 | hp2 | a0003 | c0003 | t0002 | g0089 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19084 | hp1 | a0003 | c0003 | t0002 | g0116 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19084 | hp2 | a0001 | c0001 | t0001 | g0189 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19240 | hp1 | a0024 | c0023 | t0002 | g0007 | AFR | YRI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19240 | hp2 | a0002 | c0002 | t0002 | g0073 | AFR | YRI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA20129 | hp1 | a0002 | c0002 | t0002 | g0077 | AFR | ASW | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0203 | AFR | ASW | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA20752 | hp1 | a0001 | c0001 | t0001 | g0163 | EUR | TSI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA20752 | hp2 | a0003 | c0003 | t0002 | g0105 | EUR | TSI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA20905 | hp1 | a0005 | c0005 | t0002 | g0142 | SAS | GIH | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0165 | SAS | GIH | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01123 | hp1 | a0001 | c0001 | t0001 | g0221 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01123 | hp2 | a0006 | c0008 | t0006 | g0019 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02109 | hp1 | a0002 | c0002 | t0002 | g0245 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02109 | hp2 | a0001 | c0001 | t0001 | g0210 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02486 | hp1 | a0002 | c0002 | t0002 | g0244 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02486 | hp2 | a0004 | c0004 | t0003 | g0050 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02559 | hp1 | a0002 | c0002 | t0002 | g0075 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02559 | hp2 | a0005 | c0005 | t0002 | g0136 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03471 | hp1 | a0004 | c0004 | t0003 | g0055 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03471 | hp2 | a0009 | c0009 | t0008 | g0010 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG06807 | hp1 | a0001 | c0001 | t0001 | g0191 | AFR | USA | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG06807 | hp2 | a0002 | c0002 | t0005 | g0123 | AFR | USA | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18955 | hp1 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18955 | hp2 | a0003 | c0003 | t0002 | g0114 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA21309 | hp1 | a0011 | c0012 | t0009 | g0065 | AFR | LWK | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA21309 | hp2 | a0007 | c0006 | t0002 | g0230 | AFR | LWK | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0200 | REF | REF | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
homoSapiens | grch38p0 | a0002 | c0002 | t0002 | g0074 | REF | REF | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:179990589 | C | G | 1 | a0007 | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
missense_variant | MODERATE | c.203C>G | p.Ser68Cys | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/38 | 549/13414 | 203/9354 | 68/3117 | chr1 | 179990589 | |||
chr1:179996990 | A | T | 1 | a0018 | 1 | HG02615.hp1 | missense_variant | MODERATE | c.833A>T | p.His278Leu | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/38 | 1179/13414 | 833/9354 | 278/3117 | chr1 | 179996990 | |||
chr1:180006477 | C | T | 1 | a0022 | 1 | NA19012.hp2 | missense_variant | MODERATE | c.1156C>T | p.Pro386Ser | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/38 | 1502/13414 | 1156/9354 | 386/3117 | chr1 | 180006477 | |||
chr1:180014018 | A | G | 2 | a0008 a0023 |
4 | HG02622.hp2 HG03540.hp2 NA19030.hp2 others(1): Show |
missense_variant | MODERATE | c.1565A>G | p.Asp522Gly | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/38 | 1911/13414 | 1565/9354 | 522/3117 | chr1 | 180014018 | |||
chr1:180014060 | A | T | 1 | a0020 | 1 | NA18953.hp2 | missense_variant | MODERATE | c.1607A>T | p.Gln536Leu | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/38 | 1953/13414 | 1607/9354 | 536/3117 | chr1 | 180014060 | |||
chr1:180014445 | G | T | 1 | a0021 | 1 | NA18998.hp1 | missense_variant | MODERATE | c.1992G>T | p.Leu664Phe | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/38 | 2338/13414 | 1992/9354 | 664/3117 | chr1 | 180014445 | |||
chr1:180020095 | A | G | 1 | a0019 | 1 | HG03490.hp2 | missense_variant | MODERATE | c.2321A>G | p.Asp774Gly | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/38 | 2667/13414 | 2321/9354 | 774/3117 | chr1 | 180020095 | |||
chr1:180020193 | A | G | 1 | a0017 | 1 | HG02129.hp2 | missense_variant | MODERATE | c.2419A>G | p.Thr807Ala | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/38 | 2765/13414 | 2419/9354 | 807/3117 | chr1 | 180020193 | |||
chr1:180020449 | G | C | 1 | a0005 | 10 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(7): Show |
missense_variant | MODERATE | c.2675G>C | p.Arg892Thr | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/38 | 3021/13414 | 2675/9354 | 892/3117 | chr1 | 180020449 | |||
chr1:180020607 | G | C | 8 | a0001 a0014 a0015 others(5): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
missense_variant | MODERATE | c.2833G>C | p.Glu945Gln | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/38 | 3179/13414 | 2833/9354 | 945/3117 | chr1 | 180020607 | |||
chr1:180022725 | C | T | 1 | a0024 | 1 | NA19240.hp1 | missense_variant | MODERATE | c.3263C>T | p.Thr1088Ile | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/38 | 3609/13414 | 3263/9354 | 1088/3117 | chr1 | 180022725 | |||
chr1:180031407 | G | T | 1 | a0006 | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
missense_variant | MODERATE | c.3638G>T | p.Gly1213Val | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/38 | 3984/13414 | 3638/9354 | 1213/3117 | chr1 | 180031407 | |||
chr1:180031443 | A | G | 1 | a0015 | 1 | HG01109.hp1 | missense_variant | MODERATE | c.3674A>G | p.Gln1225Arg | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/38 | 4020/13414 | 3674/9354 | 1225/3117 | chr1 | 180031443 | |||
chr1:180034056 | C | T | 1 | a0016 | 1 | HG02004.hp2 | missense_variant | MODERATE | c.3920C>T | p.Thr1307Met | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/38 | 4266/13414 | 3920/9354 | 1307/3117 | chr1 | 180034056 | |||
chr1:180041776 | A | G | 4 | a0003 a0005 a0012 others(1): Show |
56 | HG00544.hp1 HG01074.hp1 HG01261.hp1 others(53): Show |
missense_variant | MODERATE | c.4336A>G | p.Thr1446Ala | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/38 | 4682/13414 | 4336/9354 | 1446/3117 | chr1 | 180041776 | |||
chr1:180044100 | T | G | 1 | a0004 | 16 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(13): Show |
missense_variant | MODERATE | c.4549T>G | p.Ser1517Ala | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/38 | 4895/13414 | 4549/9354 | 1517/3117 | chr1 | 180044100 | |||
chr1:180075122 | C | T | 1 | a0009 | 3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
missense_variant | MODERATE | c.5668C>T | p.Arg1890Cys | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/38 | 6014/13414 | 5668/9354 | 1890/3117 | chr1 | 180075122 | |||
chr1:180080588 | A | T | 1 | a0010 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
missense_variant | MODERATE | c.6051A>T | p.Gln2017His | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/38 | 6397/13414 | 6051/9354 | 2017/3117 | chr1 | 180080588 | |||
chr1:180092841 | G | C | 1 | a0014 | 1 | HG00733.hp1 | missense_variant | MODERATE | c.6736G>C | p.Asp2246His | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 7082/13414 | 6736/9354 | 2246/3117 | chr1 | 180092841 | |||
chr1:180092944 | A | T | 1 | a0013 | 1 | HG00597.hp1 | missense_variant | MODERATE | c.6839A>T | p.Lys2280Ile | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 7185/13414 | 6839/9354 | 2280/3117 | chr1 | 180092944 | |||
chr1:180093940 | T | C | 1 | a0009 | 3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
missense_variant | MODERATE | c.7835T>C | p.Phe2612Ser | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 8181/13414 | 7835/9354 | 2612/3117 | chr1 | 180093940 | |||
chr1:180093973 | T | C | 1 | a0023 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.7868T>C | p.Ile2623Thr | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 8214/13414 | 7868/9354 | 2623/3117 | chr1 | 180093973 | |||
chr1:180094310 | G | C | 1 | a0011 | 2 | HG03041.hp2 NA21309.hp1 |
missense_variant | MODERATE | c.8205G>C | p.Lys2735Asn | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 8551/13414 | 8205/9354 | 2735/3117 | chr1 | 180094310 | |||
chr1:180095670 | C | G | 1 | a0012 | 2 | NA18956.hp1 NA18961.hp1 |
missense_variant | MODERATE | c.8659C>G | p.Gln2887Glu | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 35/38 | 9005/13414 | 8659/9354 | 2887/3117 | chr1 | 180095670 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:179996646 | C | T | 1 | a0001c0033 | 1 | NA19081.hp1 | synonymous_variant | LOW | c.489C>T | p.Ser163Ser | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/38 | 835/13414 | 489/9354 | 163/3117 | chr1 | 179996646 | |||
chr1:180003202 | A | C | 2 | a0006c0008 a0006c0031 |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
synonymous_variant | LOW | c.1047A>C | p.Arg349Arg | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/38 | 1393/13414 | 1047/9354 | 349/3117 | chr1 | 180003202 | |||
chr1:180019989 | T | C | 1 | a0002c0016 | 1 | HG02615.hp2 | synonymous_variant | LOW | c.2215T>C | p.Leu739Leu | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/38 | 2561/13414 | 2215/9354 | 739/3117 | chr1 | 180019989 | |||
chr1:180020672 | T | C | 4 | a0002c0020 a0008c0029 a0009c0009 others(1): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
synonymous_variant | LOW | c.2898T>C | p.Cys966Cys | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/38 | 3244/13414 | 2898/9354 | 966/3117 | chr1 | 180020672 | |||
chr1:180044147 | T | C | 1 | a0003c0013 | 2 | NA18971.hp2 NA19012.hp1 |
synonymous_variant | LOW | c.4596T>C | p.Ser1532Ser | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/38 | 4942/13414 | 4596/9354 | 1532/3117 | chr1 | 180044147 | |||
chr1:180053059 | C | T | 1 | a0002c0022 | 1 | HG01243.hp1 | synonymous_variant | LOW | c.4882C>T | p.Leu1628Leu | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/38 | 5228/13414 | 4882/9354 | 1628/3117 | chr1 | 180053059 | |||
chr1:180075202 | C | T | 1 | a0002c0007 | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
synonymous_variant | LOW | c.5748C>T | p.Asp1916Asp | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/38 | 6094/13414 | 5748/9354 | 1916/3117 | chr1 | 180075202 | |||
chr1:180093080 | T | C | 2 | a0007c0006 a0010c0010 |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
synonymous_variant | LOW | c.6975T>C | p.Ser2325Ser | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 7321/13414 | 6975/9354 | 2325/3117 | chr1 | 180093080 | |||
chr1:180094391 | T | C | 1 | a0001c0011 | 2 | HG02165.hp2 NA19062.hp1 |
synonymous_variant | LOW | c.8286T>C | p.Phe2762Phe | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 8632/13414 | 8286/9354 | 2762/3117 | chr1 | 180094391 | |||
chr1:180111155 | T | A | 1 | a0006c0008 | 5 | HG00323.hp1 HG01123.hp2 HG01256.hp2 others(2): Show |
synonymous_variant | LOW | c.9348T>A | p.Leu3116Leu | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 9694/13414 | 9348/9354 | 3116/3117 | chr1 | 180111155 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:179954976 | G | A | 3 | a0006c0008t0006 a0006c0008t0011 a0006c0031t0006 |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
5_prime_UTR_variant | MODIFIER | c.-180G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/38 | 31206 | chr1 | 179954976 | ||||||
chr1:180111178 | C | T | 3 | a0002c0002t0004 a0002c0002t0020 a0013c0021t0004 |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*17C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 17 | chr1 | 180111178 | ||||||
chr1:180111183 | G | A | 1 | a0011c0012t0009 | 2 | HG03041.hp2 NA21309.hp1 |
3_prime_UTR_variant | MODIFIER | c.*22G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 22 | chr1 | 180111183 | ||||||
chr1:180111308 | A | G | 4 | a0002c0020t0019 a0008c0029t0010 a0009c0009t0008 others(1): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*147A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 147 | chr1 | 180111308 | ||||||
chr1:180111494 | C | T | 3 | a0002c0002t0005 a0002c0002t0007 a0011c0012t0009 |
14 | HG00639.hp1 HG00733.hp2 HG01069.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*333C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 333 | chr1 | 180111494 | ||||||
chr1:180111504 | G | A | 1 | a0002c0002t0020 | 1 | HG00558.hp2 | 3_prime_UTR_variant | MODIFIER | c.*343G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 343 | chr1 | 180111504 | ||||||
chr1:180111644 | G | A | 1 | a0001c0001t0012 | 1 | HG02080.hp2 | 3_prime_UTR_variant | MODIFIER | c.*483G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 483 | chr1 | 180111644 | ||||||
chr1:180111654 | T | C | 1 | a0002c0020t0019 | 1 | HG02723.hp1 | 3_prime_UTR_variant | MODIFIER | c.*493T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 493 | chr1 | 180111654 | ||||||
chr1:180111795 | C | T | 1 | a0001c0001t0018 | 1 | HG03669.hp2 | 3_prime_UTR_variant | MODIFIER | c.*634C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 634 | chr1 | 180111795 | ||||||
chr1:180112146 | C | T | 2 | a0008c0029t0010 a0023c0028t0010 |
2 | NA19030.hp2 NA19043.hp1 |
3_prime_UTR_variant | MODIFIER | c.*985C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 985 | chr1 | 180112146 | ||||||
chr1:180112557 | G | C | 2 | a0008c0029t0010 a0023c0028t0010 |
2 | NA19030.hp2 NA19043.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1396G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 1396 | chr1 | 180112557 | ||||||
chr1:180112604 | CT | C | 3 | a0002c0002t0004 a0002c0002t0020 a0013c0021t0004 |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*1444delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 1444 | chr1 | 180112604 | ||||||
chr1:180112721 | T | A | 3 | a0002c0002t0003 a0002c0016t0003 a0004c0004t0003 |
20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*1560T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 1560 | chr1 | 180112721 | ||||||
chr1:180112980 | T | C | 4 | a0002c0020t0019 a0008c0029t0010 a0009c0009t0008 others(1): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1819T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 1819 | chr1 | 180112980 | ||||||
chr1:180113134 | G | C | 3 | a0006c0008t0006 a0006c0008t0011 a0006c0031t0006 |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1973G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 1973 | chr1 | 180113134 | ||||||
chr1:180113415 | C | T | 2 | a0002c0002t0007 a0011c0012t0009 |
7 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*2254C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2254 | chr1 | 180113415 | ||||||
chr1:180113552 | A | G | 1 | a0001c0001t0017 | 1 | HG01496.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2391A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2391 | chr1 | 180113552 | ||||||
chr1:180113568 | C | CA | 15 | a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 others(12): Show |
95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
3_prime_UTR_variant | MODIFIER | c.*2416dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2417 | INFO_REALIGN_3_PRIME | chr1 | 180113568 | |||||
chr1:180113699 | CT | C | 7 | a0002c0002t0004 a0002c0002t0015 a0002c0002t0020 others(4): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*2543delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2543 | INFO_REALIGN_3_PRIME | chr1 | 180113699 | |||||
chr1:180113806 | T | G | 4 | a0002c0020t0019 a0008c0029t0010 a0009c0009t0008 others(1): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2645T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2645 | chr1 | 180113806 | ||||||
chr1:180113843 | C | A | 4 | a0002c0020t0019 a0008c0029t0010 a0009c0009t0008 others(1): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2682C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2682 | chr1 | 180113843 | ||||||
chr1:180113865 | A | T | 1 | a0001c0001t0014 | 1 | HG01192.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2704A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2704 | chr1 | 180113865 | ||||||
chr1:180114145 | G | T | 1 | a0019c0025t0013 | 1 | HG03490.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2984G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2984 | chr1 | 180114145 | ||||||
chr1:180114146 | A | T | 1 | a0019c0025t0013 | 1 | HG03490.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2985A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2985 | chr1 | 180114146 | ||||||
chr1:180114159 | A | G | 1 | a0002c0002t0016 | 1 | HG02717.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2998A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2998 | chr1 | 180114159 | ||||||
chr1:180114558 | C | T | 1 | a0006c0008t0011 | 1 | HG00323.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3397C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 3397 | chr1 | 180114558 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:179955255 | G | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+113G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955255 | |||||||
chr1:179955329 | G | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+187G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955329 | |||||||
chr1:179955498 | G | C | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-14+356G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955498 | |||||||
chr1:179955639 | T | C | 4 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(1): Show |
4 | HG01192.hp1 HG02004.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.-14+497T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955639 | |||||||
chr1:179955712 | A | G | 4 | a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 others(1): Show |
4 | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-14+570A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955712 | |||||||
chr1:179955793 | A | T | 2 | a0002c0007t0002g0241 a0002c0007t0002g0242 |
2 | HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-14+651A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955793 | |||||||
chr1:179955902 | T | C | 1 | a0002c0022t0002g0003 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-14+760T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955902 | |||||||
chr1:179955969 | T | G | 29 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(26): Show |
29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-14+827T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955969 | |||||||
chr1:179956078 | C | A | 1 | a0007c0006t0002g0042 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-14+936C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956078 | |||||||
chr1:179956264 | T | C | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-14+1122T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956264 | |||||||
chr1:179956403 | A | G | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.-14+1261A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956403 | |||||||
chr1:179956508 | A | G | 1 | a0001c0001t0001g0240 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.-14+1366A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956508 | |||||||
chr1:179956720 | T | G | 24 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0007t0002g0058 others(21): Show |
25 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(22): Show |
intron_variant | MODIFIER | c.-14+1578T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956720 | |||||||
chr1:179956792 | C | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-14+1650C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956792 | |||||||
chr1:179956822 | CAAGG | C | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+1684_-14+1687d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179956822 | ||||||
chr1:179956938 | A | T | 1 | a0003c0003t0002g0236 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-14+1796A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956938 | |||||||
chr1:179957016 | T | A | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-14+1874T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179957016 | |||||||
chr1:179957031 | GTTT | G | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+1891_-14+1893d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179957031 | ||||||
chr1:179957070 | CACTT | C | 4 | a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 others(1): Show |
4 | NA18943.hp1 NA18949.hp1 NA18961.hp2 others(1): Show |
intron_variant | MODIFIER | c.-14+1933_-14+1936d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179957070 | ||||||
chr1:179957358 | G | C | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-14+2216G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179957358 | |||||||
chr1:179957602 | A | G | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+2460A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179957602 | |||||||
chr1:179957794 | T | C | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+2652T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179957794 | |||||||
chr1:179957814 | C | T | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.-14+2672C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179957814 | |||||||
chr1:179957920 | T | C | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.-14+2778T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179957920 | |||||||
chr1:179958000 | G | A | 29 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(26): Show |
29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-14+2858G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958000 | |||||||
chr1:179958180 | AGT | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+3041_-14+3042d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179958180 | ||||||
chr1:179958196 | T | C | 6 | a0002c0002t0007g0002 a0002c0002t0007g0064 a0002c0002t0007g0067 others(3): Show |
7 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.-14+3054T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958196 | |||||||
chr1:179958276 | C | T | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.-14+3134C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958276 | |||||||
chr1:179958299 | A | G | 1 | a0001c0001t0001g0226 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.-14+3157A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958299 | |||||||
chr1:179958337 | G | C | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.-14+3195G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958337 | |||||||
chr1:179958732 | A | C | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.-14+3590A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958732 | |||||||
chr1:179958739 | A | T | 1 | a0001c0001t0001g0225 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.-14+3597A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958739 | |||||||
chr1:179958751 | A | G | 1 | a0003c0003t0002g0224 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-14+3609A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958751 | |||||||
chr1:179958867 | G | A | 1 | a0004c0004t0003g0043 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-14+3725G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958867 | |||||||
chr1:179959073 | G | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+3931G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959073 | |||||||
chr1:179959188 | G | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+4046G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959188 | |||||||
chr1:179959194 | C | T | 4 | a0004c0004t0003g0043 a0004c0004t0003g0061 a0004c0004t0003g0062 others(1): Show |
4 | HG01516.hp1 HG01517.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.-14+4052C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959194 | |||||||
chr1:179959447 | A | C | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+4305A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959447 | |||||||
chr1:179959483 | G | A | 4 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(1): Show |
4 | HG00323.hp2 HG01175.hp2 HG01261.hp2 others(1): Show |
intron_variant | MODIFIER | c.-14+4341G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959483 | |||||||
chr1:179959508 | A | G | 1 | a0015c0019t0001g0223 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-14+4366A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959508 | |||||||
chr1:179959553 | C | G | 240 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(237): Show |
242 | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(239): Show |
intron_variant | MODIFIER | c.-14+4411C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959553 | |||||||
chr1:179959637 | C | G | 1 | a0001c0001t0001g0222 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-14+4495C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959637 | |||||||
chr1:179959686 | A | G | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.-14+4544A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959686 | |||||||
chr1:179959812 | CTA | C | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.-14+4673_-14+4674d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179959812 | ||||||
chr1:179959850 | C | A | 1 | a0002c0002t0004g0021 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.-14+4708C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959850 | |||||||
chr1:179959904 | T | TCTTAAAT others(9): Show |
24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-14+4765_-14+4780d others(18): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179959904 | ||||||
chr1:179959995 | CA | C | 3 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0016c0018t0001g0040 |
3 | HG02004.hp2 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-14+4856delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179959995 | ||||||
chr1:179960000 | A | C | 3 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0016c0018t0001g0040 |
3 | HG02004.hp2 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-14+4858A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960000 | |||||||
chr1:179960093 | A | G | 8 | a0002c0002t0004g0021 a0002c0002t0004g0031 a0002c0002t0004g0033 others(5): Show |
8 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.-14+4951A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960093 | |||||||
chr1:179960217 | A | G | 1 | a0001c0001t0001g0221 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.-14+5075A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960217 | |||||||
chr1:179960225 | A | G | 16 | a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 others(13): Show |
16 | HG01099.hp1 HG01496.hp2 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.-14+5083A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960225 | |||||||
chr1:179960231 | A | G | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+5089A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960231 | |||||||
chr1:179960240 | A | G | 1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-14+5098A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960240 | |||||||
chr1:179960253 | C | A | 24 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0007t0002g0058 others(21): Show |
25 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(22): Show |
intron_variant | MODIFIER | c.-14+5111C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960253 | |||||||
chr1:179960320 | C | T | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+5178C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960320 | |||||||
chr1:179960389 | G | A | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-14+5247G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960389 | |||||||
chr1:179960564 | C | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+5422C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960564 | |||||||
chr1:179960628 | A | G | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+5486A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960628 | |||||||
chr1:179960726 | T | G | 1 | a0003c0003t0002g0078 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-14+5584T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960726 | |||||||
chr1:179960731 | T | C | 2 | a0003c0003t0002g0079 a0003c0003t0002g0080 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-14+5589T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960731 | |||||||
chr1:179960942 | A | G | 5 | a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 others(2): Show |
5 | HG01168.hp2 HG01192.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.-14+5800A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960942 | |||||||
chr1:179961123 | A | C | 1 | a0008c0029t0010g0012 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-14+5981A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961123 | |||||||
chr1:179961172 | G | A | 46 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0003c0003t0001g0092 others(43): Show |
47 | HG00544.hp1 HG01261.hp1 HG02015.hp1 others(44): Show |
intron_variant | MODIFIER | c.-14+6030G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961172 | |||||||
chr1:179961184 | G | T | 1 | a0001c0001t0001g0201 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-14+6042G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961184 | |||||||
chr1:179961261 | C | T | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.-14+6119C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961261 | |||||||
chr1:179961305 | C | T | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.-14+6163C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961305 | |||||||
chr1:179961319 | G | A | 2 | a0006c0008t0006g0014 a0006c0008t0006g0015 |
2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.-14+6177G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961319 | |||||||
chr1:179961321 | A | G | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.-14+6179A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961321 | |||||||
chr1:179961397 | G | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+6255G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961397 | |||||||
chr1:179961446 | A | AAAAAT | 3 | a0009c0009t0008g0008 a0009c0009t0008g0009 a0009c0009t0008g0010 |
3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-14+6323_-14+6327d others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179961446 | ||||||
chr1:179961554 | ATTGTT | A | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-14+6425_-14+6429d others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179961554 | ||||||
chr1:179961679 | G | T | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+6537G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961679 | |||||||
chr1:179961856 | A | T | 1 | a0001c0001t0001g0220 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-14+6714A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961856 | |||||||
chr1:179961878 | C | T | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-14+6736C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961878 | |||||||
chr1:179961891 | G | T | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.-14+6749G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961891 | |||||||
chr1:179961970 | C | T | 7 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(4): Show |
7 | HG01109.hp1 HG02723.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.-14+6828C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961970 | |||||||
chr1:179962142 | C | T | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+7000C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962142 | |||||||
chr1:179962143 | G | A | 1 | a0001c0001t0001g0144 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-14+7001G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962143 | |||||||
chr1:179962289 | C | T | 2 | a0001c0001t0001g0219 a0001c0001t0001g0222 |
2 | HG01891.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.-14+7147C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962289 | |||||||
chr1:179962314 | G | A | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.-14+7172G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962314 | |||||||
chr1:179962396 | TTTTG | T | 2 | a0002c0002t0003g0001 a0002c0002t0003g0044 |
3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-14+7270_-14+7273d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179962396 | ||||||
chr1:179962423 | T | C | 1 | a0001c0001t0001g0145 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.-14+7281T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962423 | |||||||
chr1:179962600 | G | A | 1 | a0002c0007t0002g0058 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-14+7458G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962600 | |||||||
chr1:179962619 | A | T | 2 | a0002c0002t0004g0036 a0002c0002t0004g0037 |
2 | HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.-14+7477A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962619 | |||||||
chr1:179962810 | G | GACA | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+7669_-14+7670i others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179962810 | ||||||
chr1:179962813 | T | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+7671T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962813 | |||||||
chr1:179962969 | C | A | 9 | a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 others(6): Show |
9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.-14+7827C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962969 | |||||||
chr1:179963026 | C | T | 9 | a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 others(6): Show |
9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.-14+7884C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963026 | |||||||
chr1:179963028 | G | C | 9 | a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 others(6): Show |
9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.-14+7886G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963028 | |||||||
chr1:179963115 | G | T | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+7973G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963115 | |||||||
chr1:179963125 | C | T | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+7983C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963125 | |||||||
chr1:179963289 | G | A | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-14+8147G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963289 | |||||||
chr1:179963516 | ATTCT | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+8376_-14+8379d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179963516 | ||||||
chr1:179963804 | A | G | 3 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0016c0018t0001g0040 |
3 | HG02004.hp2 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-14+8662A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963804 | |||||||
chr1:179963807 | C | T | 1 | a0001c0001t0001g0199 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.-14+8665C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963807 | |||||||
chr1:179963808 | A | G | 96 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(93): Show |
96 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(93): Show |
intron_variant | MODIFIER | c.-14+8666A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963808 | |||||||
chr1:179964284 | T | A | 1 | a0001c0001t0001g0146 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.-14+9142T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179964284 | |||||||
chr1:179964667 | TA | T | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+9528delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179964667 | ||||||
chr1:179964766 | C | CT | 26 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(23): Show |
26 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(23): Show |
intron_variant | MODIFIER | c.-14+9637dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179964766 | ||||||
chr1:179964766 | CT | C | 10 | a0001c0001t0001g0147 a0001c0001t0001g0199 a0002c0002t0002g0004 others(7): Show |
10 | HG01099.hp2 HG01243.hp1 HG01256.hp2 others(7): Show |
intron_variant | MODIFIER | c.-14+9637delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179964766 | ||||||
chr1:179964959 | G | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+9817G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179964959 | |||||||
chr1:179964981 | G | T | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+9839G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179964981 | |||||||
chr1:179965137 | C | T | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.-14+9995C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965137 | |||||||
chr1:179965299 | C | T | 1 | a0003c0003t0002g0121 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.-14+10157C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965299 | |||||||
chr1:179965615 | C | CT | 107 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(104): Show |
107 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(104): Show |
intron_variant | MODIFIER | c.-14+10495dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179965615 | ||||||
chr1:179965615 | C | CTT | 5 | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 others(2): Show |
5 | HG01258.hp1 NA18946.hp2 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.-14+10494_-14+1049 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179965615 | ||||||
chr1:179965615 | CT | C | 14 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(11): Show |
14 | HG01109.hp2 HG01123.hp2 HG01167.hp2 others(11): Show |
intron_variant | MODIFIER | c.-14+10495delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179965615 | ||||||
chr1:179965615 | CTT | C | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-14+10494_-14+1049 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179965615 | ||||||
chr1:179965618 | T | C | 1 | a0002c0002t0004g0031 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-14+10476T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965618 | |||||||
chr1:179965641 | A | G | 1 | a0003c0003t0002g0115 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.-14+10499A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965641 | |||||||
chr1:179965724 | G | A | 1 | a0005c0005t0002g0141 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-14+10582G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965724 | |||||||
chr1:179965787 | A | AT | 18 | a0001c0001t0001g0240 a0004c0004t0003g0043 a0004c0004t0003g0046 others(15): Show |
18 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(15): Show |
intron_variant | MODIFIER | c.-14+10655dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179965787 | ||||||
chr1:179965872 | T | C | 38 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(35): Show |
38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.-14+10730T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965872 | |||||||
chr1:179965886 | A | G | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-14+10744A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965886 | |||||||
chr1:179966178 | C | A | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-14+11036C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966178 | |||||||
chr1:179966280 | G | A | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.-14+11138G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966280 | |||||||
chr1:179966585 | A | G | 2 | a0005c0005t0002g0139 a0005c0005t0002g0140 |
2 | NA18975.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.-14+11443A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966585 | |||||||
chr1:179966652 | T | C | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-14+11510T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966652 | |||||||
chr1:179966761 | C | G | 1 | a0002c0016t0003g0045 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-14+11619C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966761 | |||||||
chr1:179966769 | C | G | 1 | a0001c0001t0001g0218 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-14+11627C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966769 | |||||||
chr1:179966910 | G | A | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.-14+11768G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966910 | |||||||
chr1:179966993 | C | T | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-14+11851C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966993 | |||||||
chr1:179967011 | A | T | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-14+11869A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967011 | |||||||
chr1:179967023 | T | C | 1 | a0003c0003t0002g0082 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.-14+11881T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967023 | |||||||
chr1:179967035 | G | A | 29 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(26): Show |
29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-14+11893G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967035 | |||||||
chr1:179967081 | G | A | 9 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(6): Show |
9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+11939G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967081 | |||||||
chr1:179967094 | T | C | 44 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(41): Show |
44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.-14+11952T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967094 | |||||||
chr1:179967097 | T | G | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-14+11955T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967097 | |||||||
chr1:179967099 | T | C | 1 | a0001c0001t0001g0155 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-14+11957T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967099 | |||||||
chr1:179967440 | C | G | 9 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(6): Show |
9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+12298C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967440 | |||||||
chr1:179967444 | C | G | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+12302C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967444 | |||||||
chr1:179967504 | C | T | 9 | a0002c0020t0019g0011 a0006c0008t0006g0014 a0006c0008t0006g0015 others(6): Show |
9 | HG00323.hp1 HG01123.hp2 HG01256.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+12362C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967504 | |||||||
chr1:179967516 | G | A | 38 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(35): Show |
38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.-14+12374G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967516 | |||||||
chr1:179967554 | G | T | 1 | a0004c0004t0003g0057 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.-14+12412G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967554 | |||||||
chr1:179967663 | G | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+12521G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967663 | |||||||
chr1:179967700 | C | T | 1 | a0022c0030t0001g0217 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.-14+12558C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967700 | |||||||
chr1:179967767 | A | T | 9 | a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 others(6): Show |
9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.-14+12625A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967767 | |||||||
chr1:179967854 | A | G | 3 | a0001c0001t0001g0145 a0001c0001t0001g0194 a0001c0001t0001g0216 |
3 | HG01928.hp2 NA18953.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.-14+12712A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967854 | |||||||
chr1:179967876 | T | C | 1 | a0001c0001t0001g0156 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.-14+12734T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967876 | |||||||
chr1:179967920 | A | G | 1 | a0001c0001t0001g0201 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-14+12778A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967920 | |||||||
chr1:179968043 | G | T | 1 | a0001c0001t0001g0144 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-14+12901G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968043 | |||||||
chr1:179968051 | G | C | 137 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(134): Show |
137 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(134): Show |
intron_variant | MODIFIER | c.-14+12909G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968051 | |||||||
chr1:179968090 | G | A | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-14+12948G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968090 | |||||||
chr1:179968332 | CA | C | 39 | a0001c0001t0001g0153 a0002c0002t0002g0004 a0002c0002t0002g0005 others(36): Show |
39 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(36): Show |
intron_variant | MODIFIER | c.-14+13207delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179968332 | ||||||
chr1:179968354 | A | G | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.-14+13212A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968354 | |||||||
chr1:179968443 | T | A | 1 | a0020c0027t0002g0083 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.-14+13301T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968443 | |||||||
chr1:179968486 | G | GAGTC | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-14+13346_-14+1334 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179968486 | ||||||
chr1:179968505 | A | G | 1 | a0001c0001t0001g0215 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.-14+13363A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968505 | |||||||
chr1:179968601 | C | T | 1 | a0004c0004t0003g0056 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-14+13459C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968601 | |||||||
chr1:179968639 | T | C | 1 | a0001c0001t0001g0155 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-14+13497T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968639 | |||||||
chr1:179968864 | A | T | 29 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(26): Show |
29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-14+13722A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968864 | |||||||
chr1:179969170 | G | C | 173 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(170): Show |
174 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(171): Show |
intron_variant | MODIFIER | c.-14+14028G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179969170 | |||||||
chr1:179969410 | C | T | 1 | a0001c0001t0012g0193 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.-14+14268C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179969410 | |||||||
chr1:179969513 | C | T | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.-14+14371C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179969513 | |||||||
chr1:179969663 | A | G | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.-14+14521A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179969663 | |||||||
chr1:179969773 | A | G | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-14+14631A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179969773 | |||||||
chr1:179969883 | T | C | 2 | a0004c0004t0003g0061 a0004c0004t0003g0062 |
2 | HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.-14+14741T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179969883 | |||||||
chr1:179970034 | T | C | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+14892T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970034 | |||||||
chr1:179970039 | G | A | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.-14+14897G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970039 | |||||||
chr1:179970123 | G | T | 1 | a0001c0001t0001g0038 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-14+14981G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970123 | |||||||
chr1:179970160 | G | A | 1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-14+15018G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970160 | |||||||
chr1:179970256 | G | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+15114G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970256 | |||||||
chr1:179970360 | A | C | 163 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(160): Show |
164 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.-14+15218A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970360 | |||||||
chr1:179970419 | G | C | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+15277G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970419 | |||||||
chr1:179970497 | A | G | 1 | a0003c0003t0002g0112 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-14+15355A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970497 | |||||||
chr1:179970565 | G | GATCTGAT others(28): Show |
1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-14+15437_-14+1543 others(39): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179970565 | ||||||
chr1:179970582 | A | G | 9 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(6): Show |
9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+15440A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970582 | |||||||
chr1:179970631 | A | T | 1 | a0005c0005t0002g0138 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-14+15489A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970631 | |||||||
chr1:179970679 | A | G | 3 | a0001c0001t0001g0152 a0001c0001t0001g0191 a0001c0001t0001g0192 |
3 | HG02922.hp1 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.-13-15490A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970679 | |||||||
chr1:179970830 | T | C | 8 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0002c0007t0002g0058 others(5): Show |
8 | HG02004.hp2 HG02258.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.-13-15339T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970830 | |||||||
chr1:179970878 | G | C | 44 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(41): Show |
44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.-13-15291G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970878 | |||||||
chr1:179970883 | C | G | 38 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(35): Show |
38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.-13-15286C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970883 | |||||||
chr1:179970900 | A | C | 29 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(26): Show |
29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-13-15269A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970900 | |||||||
chr1:179970912 | A | G | 1 | a0005c0005t0002g0137 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.-13-15257A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970912 | |||||||
chr1:179970963 | TGTTA | T | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-13-15202_-13-1519 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179970963 | ||||||
chr1:179971004 | AAAT | A | 4 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(1): Show |
4 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.-13-15159_-13-1515 others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179971004 | ||||||
chr1:179971026 | TTG | T | 2 | a0002c0002t0003g0001 a0002c0002t0003g0044 |
3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-13-15141_-13-1514 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179971026 | ||||||
chr1:179971031 | T | G | 2 | a0002c0002t0003g0001 a0002c0002t0003g0044 |
3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-13-15138T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971031 | |||||||
chr1:179971032 | G | GT | 48 | a0001c0001t0001g0072 a0001c0001t0001g0188 a0001c0001t0001g0189 others(45): Show |
48 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(45): Show |
intron_variant | MODIFIER | c.-13-15123dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179971032 | ||||||
chr1:179971032 | G | T | 2 | a0002c0002t0003g0001 a0002c0002t0003g0044 |
3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-13-15137G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971032 | |||||||
chr1:179971038 | T | G | 1 | a0003c0003t0002g0084 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.-13-15131T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971038 | |||||||
chr1:179971051 | CAG | C | 3 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 |
3 | NA18612.hp2 NA18947.hp2 NA19083.hp1 |
intron_variant | MODIFIER | c.-13-15115_-13-1511 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179971051 | ||||||
chr1:179971169 | C | T | 2 | a0002c0002t0003g0001 a0002c0002t0003g0044 |
3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-13-15000C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971169 | |||||||
chr1:179971203 | A | T | 1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-13-14966A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971203 | |||||||
chr1:179971244 | G | T | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-14925G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971244 | |||||||
chr1:179971497 | A | AT | 29 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(26): Show |
29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-13-14663dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179971497 | ||||||
chr1:179971590 | C | T | 9 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(6): Show |
9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-13-14579C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971590 | |||||||
chr1:179972079 | C | T | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-14090C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972079 | |||||||
chr1:179972094 | C | T | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.-13-14075C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972094 | |||||||
chr1:179972253 | C | T | 2 | a0005c0005t0002g0126 a0005c0005t0002g0136 |
2 | HG02559.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.-13-13916C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972253 | |||||||
chr1:179972254 | G | A | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-13-13915G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972254 | |||||||
chr1:179972261 | G | A | 29 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(26): Show |
29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-13-13908G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972261 | |||||||
chr1:179972304 | C | T | 2 | a0003c0013t0002g0109 a0003c0013t0002g0110 |
2 | NA18971.hp2 NA19012.hp1 |
intron_variant | MODIFIER | c.-13-13865C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972304 | |||||||
chr1:179972481 | G | T | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-13688G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972481 | |||||||
chr1:179972652 | A | G | 38 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(35): Show |
38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.-13-13517A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972652 | |||||||
chr1:179972788 | A | G | 1 | a0001c0001t0001g0214 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-13-13381A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972788 | |||||||
chr1:179972870 | CT | C | 12 | a0001c0001t0001g0072 a0001c0001t0001g0194 a0002c0002t0002g0004 others(9): Show |
12 | HG01243.hp1 HG01346.hp1 HG01517.hp2 others(9): Show |
intron_variant | MODIFIER | c.-13-13283delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179972870 | ||||||
chr1:179972953 | C | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-13-13216C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972953 | |||||||
chr1:179972997 | A | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-13172A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972997 | |||||||
chr1:179973039 | T | A | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-13130T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973039 | |||||||
chr1:179973043 | A | G | 3 | a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0016g0246 |
3 | HG02109.hp1 HG02486.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-13-13126A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973043 | |||||||
chr1:179973050 | G | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-13119G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973050 | |||||||
chr1:179973099 | C | G | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.-13-13070C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973099 | |||||||
chr1:179973154 | A | G | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-13-13015A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973154 | |||||||
chr1:179973220 | A | G | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.-13-12949A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973220 | |||||||
chr1:179973232 | T | C | 1 | a0003c0003t0002g0086 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.-13-12937T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973232 | |||||||
chr1:179973253 | T | C | 173 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(170): Show |
174 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(171): Show |
intron_variant | MODIFIER | c.-13-12916T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973253 | |||||||
chr1:179973299 | T | A | 1 | a0002c0002t0002g0004 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-13-12870T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973299 | |||||||
chr1:179973318 | A | G | 1 | a0001c0001t0001g0187 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.-13-12851A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973318 | |||||||
chr1:179973545 | G | A | 1 | a0001c0001t0001g0201 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-13-12624G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973545 | |||||||
chr1:179973556 | G | A | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-13-12613G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973556 | |||||||
chr1:179973560 | T | C | 38 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(35): Show |
38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.-13-12609T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973560 | |||||||
chr1:179973596 | A | G | 10 | a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0136 others(7): Show |
10 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(7): Show |
intron_variant | MODIFIER | c.-13-12573A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973596 | |||||||
chr1:179973685 | T | G | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-13-12484T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973685 | |||||||
chr1:179974045 | G | GT | 5 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 others(2): Show |
5 | HG01891.hp2 HG02129.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-12114dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179974045 | ||||||
chr1:179974053 | T | G | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-13-12116T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974053 | |||||||
chr1:179974056 | G | T | 91 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(88): Show |
91 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(88): Show |
intron_variant | MODIFIER | c.-13-12113G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974056 | |||||||
chr1:179974101 | AT | A | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.-13-12067delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974101 | |||||||
chr1:179974125 | A | C | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-13-12044A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974125 | |||||||
chr1:179974172 | C | T | 9 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(6): Show |
9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-13-11997C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974172 | |||||||
chr1:179974297 | G | A | 6 | a0004c0004t0003g0043 a0004c0004t0003g0048 a0004c0004t0003g0051 others(3): Show |
6 | HG01516.hp1 HG01517.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.-13-11872G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974297 | |||||||
chr1:179974476 | A | AAGAT | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-11691_-13-1168 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179974476 | ||||||
chr1:179974486 | C | T | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.-13-11683C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974486 | |||||||
chr1:179974538 | A | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-13-11631A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974538 | |||||||
chr1:179974695 | T | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-11474T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974695 | |||||||
chr1:179975045 | A | G | 1 | a0003c0003t0002g0108 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.-13-11124A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975045 | |||||||
chr1:179975144 | A | T | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-13-11025A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975144 | |||||||
chr1:179975379 | T | A | 2 | a0001c0001t0001g0158 a0001c0001t0001g0195 |
2 | HG00544.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.-13-10790T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975379 | |||||||
chr1:179975582 | TAAAG | T | 2 | a0002c0002t0003g0001 a0002c0002t0003g0044 |
3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-13-10583_-13-1058 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179975582 | ||||||
chr1:179975711 | G | C | 6 | a0002c0002t0007g0002 a0002c0002t0007g0064 a0002c0002t0007g0067 others(3): Show |
7 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.-13-10458G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975711 | |||||||
chr1:179975764 | G | C | 1 | a0001c0001t0017g0207 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.-13-10405G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975764 | |||||||
chr1:179975766 | G | A | 137 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(134): Show |
137 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(134): Show |
intron_variant | MODIFIER | c.-13-10403G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975766 | |||||||
chr1:179975793 | A | C | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.-13-10376A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975793 | |||||||
chr1:179975995 | A | C | 4 | a0002c0002t0005g0124 a0002c0002t0005g0133 a0002c0002t0005g0134 others(1): Show |
4 | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(1): Show |
intron_variant | MODIFIER | c.-13-10174A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975995 | |||||||
chr1:179976138 | G | A | 1 | a0004c0004t0003g0052 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-13-10031G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976138 | |||||||
chr1:179976231 | G | GA | 89 | a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0070 others(86): Show |
89 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(86): Show |
intron_variant | MODIFIER | c.-13-9929dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179976231 | ||||||
chr1:179976255 | A | G | 2 | a0001c0001t0001g0183 a0001c0001t0001g0225 |
2 | HG01496.hp1 HG01516.hp2 |
intron_variant | MODIFIER | c.-13-9914A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976255 | |||||||
chr1:179976350 | TAAAAG | T | 25 | a0001c0001t0001g0240 a0002c0002t0003g0001 a0002c0002t0003g0044 others(22): Show |
26 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(23): Show |
intron_variant | MODIFIER | c.-13-9814_-13-9810d others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179976350 | ||||||
chr1:179976464 | T | G | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-13-9705T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976464 | |||||||
chr1:179976486 | T | C | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-9683T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976486 | |||||||
chr1:179976598 | G | A | 9 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(6): Show |
9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-13-9571G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976598 | |||||||
chr1:179976632 | C | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-9537C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976632 | |||||||
chr1:179976651 | C | CA | 7 | a0001c0001t0001g0069 a0006c0008t0006g0014 a0006c0008t0006g0015 others(4): Show |
7 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(4): Show |
intron_variant | MODIFIER | c.-13-9504dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179976651 | ||||||
chr1:179976651 | CA | C | 10 | a0002c0020t0019g0011 a0005c0005t0002g0126 a0008c0029t0010g0012 others(7): Show |
10 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.-13-9504delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179976651 | ||||||
chr1:179976703 | T | C | 137 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(134): Show |
137 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(134): Show |
intron_variant | MODIFIER | c.-13-9466T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976703 | |||||||
chr1:179976711 | G | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-9458G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976711 | |||||||
chr1:179976886 | G | T | 3 | a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0016g0246 |
3 | HG02109.hp1 HG02486.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-13-9283G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976886 | |||||||
chr1:179977080 | C | T | 1 | a0002c0002t0020g0035 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.-13-9089C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179977080 | |||||||
chr1:179977141 | G | T | 33 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(30): Show |
33 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.-13-9028G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179977141 | |||||||
chr1:179977171 | G | C | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-8998G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179977171 | |||||||
chr1:179977667 | T | C | 1 | a0001c0001t0001g0159 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.-13-8502T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179977667 | |||||||
chr1:179977711 | A | G | 1 | a0004c0004t0003g0051 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.-13-8458A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179977711 | |||||||
chr1:179977817 | CTT | C | 9 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(6): Show |
9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-13-8349_-13-8348d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179977817 | ||||||
chr1:179978026 | A | G | 20 | a0001c0001t0001g0240 a0002c0002t0003g0001 a0002c0002t0003g0044 others(17): Show |
21 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(18): Show |
intron_variant | MODIFIER | c.-13-8143A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978026 | |||||||
chr1:179978149 | C | T | 1 | a0001c0001t0012g0193 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.-13-8020C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978149 | |||||||
chr1:179978284 | A | G | 17 | a0001c0001t0001g0240 a0004c0004t0003g0043 a0004c0004t0003g0046 others(14): Show |
17 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(14): Show |
intron_variant | MODIFIER | c.-13-7885A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978284 | |||||||
chr1:179978441 | G | A | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-13-7728G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978441 | |||||||
chr1:179978485 | T | C | 1 | a0005c0005t0002g0139 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.-13-7684T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978485 | |||||||
chr1:179978552 | C | T | 1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-13-7617C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978552 | |||||||
chr1:179978656 | T | C | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-13-7513T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978656 | |||||||
chr1:179979148 | G | C | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-13-7021G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979148 | |||||||
chr1:179979377 | G | T | 1 | a0002c0016t0003g0045 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-13-6792G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979377 | |||||||
chr1:179979390 | G | GT | 84 | a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 others(81): Show |
84 | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(81): Show |
intron_variant | MODIFIER | c.-13-6764dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179979390 | ||||||
chr1:179979457 | G | A | 44 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(41): Show |
44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.-13-6712G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979457 | |||||||
chr1:179979478 | C | T | 163 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(160): Show |
164 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.-13-6691C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979478 | |||||||
chr1:179979662 | A | G | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.-13-6507A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979662 | |||||||
chr1:179979718 | T | C | 2 | a0001c0011t0001g0148 a0001c0011t0001g0157 |
2 | HG02165.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.-13-6451T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979718 | |||||||
chr1:179979728 | T | C | 177 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(174): Show |
178 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(175): Show |
intron_variant | MODIFIER | c.-13-6441T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979728 | |||||||
chr1:179979766 | G | A | 33 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(30): Show |
33 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.-13-6403G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979766 | |||||||
chr1:179979805 | A | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-6364A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979805 | |||||||
chr1:179979812 | A | G | 2 | a0005c0005t0002g0141 a0005c0005t0002g0143 |
2 | HG03669.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.-13-6357A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979812 | |||||||
chr1:179979856 | T | C | 1 | a0002c0002t0002g0073 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-13-6313T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979856 | |||||||
chr1:179979907 | G | T | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.-13-6262G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979907 | |||||||
chr1:179980679 | A | G | 44 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(41): Show |
44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.-13-5490A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179980679 | |||||||
chr1:179980987 | A | G | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-5182A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179980987 | |||||||
chr1:179981652 | A | G | 1 | a0001c0001t0001g0206 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-13-4517A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179981652 | |||||||
chr1:179981762 | CTGAGGTG others(107): Show |
C | 1 | a0001c0001t0001g0160 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.-13-4406_-13-4293d others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179981762 | |||||||
chr1:179981979 | A | G | 138 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(135): Show |
138 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.-13-4190A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179981979 | |||||||
chr1:179982035 | A | C | 3 | a0002c0002t0004g0026 a0002c0002t0004g0027 a0002c0002t0004g0028 |
3 | HG03130.hp1 HG03579.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.-13-4134A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179982035 | |||||||
chr1:179982098 | A | G | 9 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(6): Show |
9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-13-4071A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179982098 | |||||||
chr1:179982283 | A | G | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-13-3886A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179982283 | |||||||
chr1:179982366 | G | A | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-13-3803G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179982366 | |||||||
chr1:179982585 | T | C | 2 | a0012c0014t0002g0087 a0012c0014t0002g0088 |
2 | NA18956.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.-13-3584T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179982585 | |||||||
chr1:179982614 | T | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-3555T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179982614 | |||||||
chr1:179983079 | G | A | 72 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(69): Show |
72 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(69): Show |
intron_variant | MODIFIER | c.-13-3090G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179983079 | |||||||
chr1:179983094 | G | A | 1 | a0001c0001t0001g0232 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.-13-3075G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179983094 | |||||||
chr1:179983330 | G | A | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-13-2839G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179983330 | |||||||
chr1:179983396 | G | A | 1 | a0001c0001t0001g0167 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-13-2773G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179983396 | |||||||
chr1:179983936 | A | C | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-13-2233A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179983936 | |||||||
chr1:179984291 | C | T | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.-13-1878C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984291 | |||||||
chr1:179984301 | G | C | 89 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(86): Show |
89 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(86): Show |
intron_variant | MODIFIER | c.-13-1868G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984301 | |||||||
chr1:179984418 | C | T | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.-13-1751C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984418 | |||||||
chr1:179984475 | A | G | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-13-1694A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984475 | |||||||
chr1:179984527 | C | A | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-1642C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984527 | |||||||
chr1:179984541 | G | A | 1 | a0004c0004t0003g0049 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-13-1628G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984541 | |||||||
chr1:179984587 | C | T | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-1582C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984587 | |||||||
chr1:179984603 | A | T | 1 | a0001c0001t0014g0205 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-13-1566A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984603 | |||||||
chr1:179984827 | C | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-1342C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984827 | |||||||
chr1:179984888 | A | G | 10 | a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0136 others(7): Show |
10 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(7): Show |
intron_variant | MODIFIER | c.-13-1281A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984888 | |||||||
chr1:179985018 | A | G | 1 | a0001c0001t0001g0211 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-13-1151A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985018 | |||||||
chr1:179985082 | A | G | 1 | a0003c0003t0002g0108 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.-13-1087A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985082 | |||||||
chr1:179985178 | A | G | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-13-991A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985178 | |||||||
chr1:179985298 | C | A | 44 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(41): Show |
44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.-13-871C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985298 | |||||||
chr1:179985317 | G | T | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.-13-852G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985317 | |||||||
chr1:179985426 | G | A | 1 | a0001c0001t0001g0069 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-13-743G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985426 | |||||||
chr1:179985506 | A | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-663A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985506 | |||||||
chr1:179985696 | G | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-473G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985696 | |||||||
chr1:179985698 | C | T | 5 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 others(2): Show |
5 | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-471C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985698 | |||||||
chr1:179985769 | CT | C | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.-13-399delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985769 | |||||||
chr1:179986334 | T | G | 1 | a0002c0016t0003g0045 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.73+80T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179986334 | |||||||
chr1:179986358 | A | G | 2 | a0008c0015t0002g0131 a0008c0015t0002g0132 |
2 | HG02622.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.73+104A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179986358 | |||||||
chr1:179986383 | C | T | 4 | a0004c0004t0003g0047 a0004c0004t0003g0052 a0004c0004t0003g0054 others(1): Show |
4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.73+129C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179986383 | |||||||
chr1:179986526 | T | C | 1 | a0001c0001t0001g0070 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.73+272T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179986526 | |||||||
chr1:179986777 | C | T | 1 | a0001c0001t0001g0144 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.74-463C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179986777 | |||||||
chr1:179986881 | A | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-359A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179986881 | |||||||
chr1:179987016 | CTGTT | C | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.74-222_74-219delGT others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr1 | 179987016 | ||||||
chr1:179987084 | C | T | 9 | a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 others(6): Show |
9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.74-156C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179987084 | |||||||
chr1:179987220 | AAT | A | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.74-17_74-16delAT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr1 | 179987220 | ||||||
chr1:179987224 | T | C | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.74-16T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179987224 | |||||||
chr1:179987338 | TGTTATGA others(7): Show |
T | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.120+54_120+67delTT others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr1 | 179987338 | ||||||
chr1:179987357 | A | T | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.120+71A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987357 | |||||||
chr1:179987358 | A | T | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.120+72A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987358 | |||||||
chr1:179987362 | G | T | 30 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.120+76G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987362 | |||||||
chr1:179987427 | A | C | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.120+141A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987427 | |||||||
chr1:179987487 | A | G | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.120+201A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987487 | |||||||
chr1:179987581 | A | G | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.120+295A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987581 | |||||||
chr1:179987705 | T | C | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.120+419T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987705 | |||||||
chr1:179987719 | G | A | 4 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(1): Show |
4 | HG01192.hp1 HG02004.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.120+433G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987719 | |||||||
chr1:179988192 | G | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.120+906G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988192 | |||||||
chr1:179988198 | G | A | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.120+912G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988198 | |||||||
chr1:179988246 | A | G | 1 | a0002c0002t0005g0135 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.120+960A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988246 | |||||||
chr1:179988296 | C | CA | 11 | a0001c0001t0001g0144 a0001c0001t0001g0221 a0002c0002t0002g0243 others(8): Show |
11 | HG01074.hp2 HG01123.hp1 HG02723.hp2 others(8): Show |
intron_variant | MODIFIER | c.120+1028dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr1 | 179988296 | ||||||
chr1:179988296 | C | CAA | 5 | a0008c0029t0010g0012 a0009c0009t0008g0008 a0009c0009t0008g0009 others(2): Show |
5 | HG02809.hp1 HG03453.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.120+1027_120+1028d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr1 | 179988296 | ||||||
chr1:179988296 | CA | C | 21 | a0001c0001t0001g0070 a0001c0001t0001g0182 a0002c0002t0004g0021 others(18): Show |
21 | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(18): Show |
intron_variant | MODIFIER | c.120+1028delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr1 | 179988296 | ||||||
chr1:179988575 | T | C | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.120+1289T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988575 | |||||||
chr1:179988612 | G | T | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.120+1326G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988612 | |||||||
chr1:179988672 | T | C | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.120+1386T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988672 | |||||||
chr1:179988905 | C | T | 1 | a0001c0001t0001g0155 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.121-1602C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988905 | |||||||
chr1:179989041 | G | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.121-1466G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989041 | |||||||
chr1:179989121 | T | A | 137 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(134): Show |
137 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(134): Show |
intron_variant | MODIFIER | c.121-1386T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989121 | |||||||
chr1:179989274 | G | A | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.121-1233G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989274 | |||||||
chr1:179989373 | T | C | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.121-1134T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989373 | |||||||
chr1:179989460 | G | A | 3 | a0009c0009t0008g0008 a0009c0009t0008g0009 a0009c0009t0008g0010 |
3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.121-1047G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989460 | |||||||
chr1:179989482 | C | CA | 114 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(111): Show |
114 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(111): Show |
intron_variant | MODIFIER | c.121-1008dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr1 | 179989482 | ||||||
chr1:179989482 | C | CAA | 10 | a0001c0001t0001g0071 a0001c0001t0001g0150 a0001c0001t0001g0168 others(7): Show |
10 | HG01175.hp2 HG01243.hp1 HG01243.hp2 others(7): Show |
intron_variant | MODIFIER | c.121-1009_121-1008d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr1 | 179989482 | ||||||
chr1:179989605 | G | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.121-902G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989605 | |||||||
chr1:179989674 | T | C | 163 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(160): Show |
164 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.121-833T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989674 | |||||||
chr1:179989689 | T | C | 1 | a0001c0001t0001g0183 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.121-818T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989689 | |||||||
chr1:179989743 | T | C | 7 | a0002c0002t0005g0122 a0002c0002t0005g0123 a0002c0002t0005g0124 others(4): Show |
7 | HG00639.hp1 HG00733.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.121-764T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989743 | |||||||
chr1:179989759 | A | G | 5 | a0001c0001t0001g0183 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG01496.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.121-748A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989759 | |||||||
chr1:179989772 | T | C | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.121-735T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989772 | |||||||
chr1:179989796 | T | C | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.121-711T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989796 | |||||||
chr1:179990162 | C | T | 20 | a0001c0001t0001g0240 a0002c0002t0003g0001 a0002c0002t0003g0044 others(17): Show |
21 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(18): Show |
intron_variant | MODIFIER | c.121-345C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179990162 | |||||||
chr1:179990899 | G | A | 137 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(134): Show |
137 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(134): Show |
intron_variant | MODIFIER | c.235+278G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179990899 | |||||||
chr1:179990969 | A | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.235+348A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179990969 | |||||||
chr1:179991008 | G | GTAGA | 4 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 others(1): Show |
4 | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.235+389_235+392dup others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991008 | ||||||
chr1:179991013 | T | C | 5 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(2): Show |
5 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.235+392T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991013 | |||||||
chr1:179991127 | A | AT | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.235+517dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991127 | ||||||
chr1:179991234 | T | C | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.235+613T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991234 | |||||||
chr1:179991275 | G | T | 1 | a0008c0029t0010g0012 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.235+654G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991275 | |||||||
chr1:179991314 | C | CT | 23 | a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0180 others(20): Show |
23 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.235+713dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991314 | ||||||
chr1:179991314 | C | CTT | 10 | a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0004g0031 others(7): Show |
10 | HG00738.hp1 HG01168.hp1 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.235+712_235+713dup others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991314 | ||||||
chr1:179991317 | T | TTC | 19 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0016t0003g0045 others(16): Show |
20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.235+697_235+698ins others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991317 | ||||||
chr1:179991318 | T | TC | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.235+697_235+698ins others(1): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991318 | |||||||
chr1:179991319 | T | C | 10 | a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0136 others(7): Show |
10 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(7): Show |
intron_variant | MODIFIER | c.235+698T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991319 | |||||||
chr1:179991322 | T | C | 1 | a0002c0016t0003g0045 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.235+701T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991322 | |||||||
chr1:179991356 | G | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.236-706G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991356 | |||||||
chr1:179991419 | C | T | 16 | a0002c0020t0019g0011 a0005c0005t0002g0125 a0005c0005t0002g0126 others(13): Show |
16 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.236-643C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991419 | |||||||
chr1:179991437 | G | A | 6 | a0002c0002t0007g0002 a0002c0002t0007g0064 a0002c0002t0007g0067 others(3): Show |
7 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.236-625G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991437 | |||||||
chr1:179991632 | A | G | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.236-430A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991632 | |||||||
chr1:179991652 | T | C | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.236-410T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991652 | |||||||
chr1:179991655 | GTA | G | 8 | a0002c0002t0002g0077 a0002c0002t0004g0031 a0002c0002t0004g0036 others(5): Show |
8 | HG00558.hp2 HG00597.hp1 HG01168.hp1 others(5): Show |
intron_variant | MODIFIER | c.236-395_236-394del others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991655 | ||||||
chr1:179991663 | A | G | 1 | a0008c0029t0010g0012 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.236-399A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991663 | |||||||
chr1:179991665 | A | ATG | 3 | a0002c0002t0004g0030 a0006c0008t0006g0019 a0006c0008t0011g0017 |
3 | HG00323.hp1 HG01109.hp2 HG01123.hp2 |
intron_variant | MODIFIER | c.236-396_236-395ins others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991665 | ||||||
chr1:179991665 | A | G | 3 | a0006c0031t0006g0018 a0008c0029t0010g0012 a0023c0028t0010g0013 |
3 | HG00738.hp2 NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.236-397A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991665 | |||||||
chr1:179991667 | A | ATATGTGT others(3): Show |
1 | a0001c0001t0001g0201 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.236-394_236-393ins others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | ||||||
chr1:179991667 | A | ATATGTGT others(7): Show |
1 | a0014c0017t0001g0161 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.236-394_236-393ins others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | ||||||
chr1:179991667 | A | ATG | 5 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0003c0003t0001g0092 others(2): Show |
6 | HG02055.hp1 HG02451.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.236-355_236-354dup others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | ||||||
chr1:179991667 | A | ATGTG | 12 | a0001c0001t0001g0196 a0002c0002t0002g0243 a0002c0002t0002g0245 others(9): Show |
12 | HG01099.hp2 HG01258.hp1 HG02040.hp1 others(9): Show |
intron_variant | MODIFIER | c.236-357_236-354dup others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | ||||||
chr1:179991667 | A | ATGTGTG | 44 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0233 others(41): Show |
44 | HG00544.hp1 HG01261.hp1 HG02004.hp2 others(41): Show |
intron_variant | MODIFIER | c.236-359_236-354dup others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | ||||||
chr1:179991667 | A | ATGTGTGT others(1): Show |
14 | a0001c0001t0001g0158 a0002c0002t0005g0123 a0002c0002t0005g0124 others(11): Show |
15 | HG00544.hp2 HG00639.hp1 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.236-361_236-354dup others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | ||||||
chr1:179991667 | A | ATGTGTGT others(3): Show |
9 | a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0160 others(6): Show |
9 | HG00733.hp2 HG01175.hp2 HG01261.hp2 others(6): Show |
intron_variant | MODIFIER | c.236-363_236-354dup others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | ||||||
chr1:179991667 | A | ATGTGTGT others(5): Show |
2 | a0001c0001t0001g0156 a0002c0002t0007g0064 |
2 | HG02895.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.236-365_236-354dup others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | ||||||
chr1:179991667 | A | G | 36 | a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0162 others(33): Show |
36 | HG00323.hp1 HG00738.hp1 HG00738.hp2 others(33): Show |
intron_variant | MODIFIER | c.236-395A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991667 | |||||||
chr1:179991667 | ATG | A | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.236-355_236-354del others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | ||||||
chr1:179991667 | ATGTGTG | A | 3 | a0002c0002t0002g0076 a0002c0002t0002g0127 a0011c0012t0009g0066 |
3 | HG02698.hp2 HG03041.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.236-359_236-354del others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | ||||||
chr1:179991667 | ATGTGTGT others(5): Show |
A | 1 | a0001c0001t0001g0202 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.236-365_236-354del others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | ||||||
chr1:179991667 | ATGTGTGT others(9): Show |
A | 1 | a0001c0001t0001g0219 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.236-369_236-354del others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | ||||||
chr1:179991705 | G | A | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.236-357G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991705 | |||||||
chr1:179991707 | G | A | 16 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0219 others(13): Show |
16 | HG00733.hp1 HG01168.hp2 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.236-355G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991707 | |||||||
chr1:179991707 | G | GTGTA | 3 | a0001c0001t0001g0038 a0001c0001t0001g0182 a0001c0001t0014g0205 |
3 | HG01167.hp1 HG01192.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.236-354_236-353ins others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991707 | G | GTGTGTA | 9 | a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0169 others(6): Show |
9 | HG01109.hp1 HG02004.hp1 HG02040.hp2 others(6): Show |
intron_variant | MODIFIER | c.236-354_236-353ins others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991707 | G | GTGTGTAT others(3): Show |
3 | a0005c0005t0002g0138 a0005c0005t0002g0141 a0005c0005t0002g0143 |
3 | HG01891.hp1 HG03669.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.236-354_236-353ins others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991707 | G | GTGTGTGT others(1): Show |
24 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 others(21): Show |
24 | HG00558.hp1 HG01069.hp2 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.236-354_236-353ins others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991707 | G | GTGTGTGT others(3): Show |
8 | a0001c0001t0001g0144 a0001c0001t0001g0172 a0001c0001t0001g0173 others(5): Show |
8 | HG02165.hp2 NA18612.hp2 NA18947.hp2 others(5): Show |
intron_variant | MODIFIER | c.236-354_236-353ins others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991707 | G | GTGTGTGT others(5): Show |
2 | a0005c0005t0002g0126 a0005c0005t0002g0136 |
2 | HG02559.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.236-354_236-353ins others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991707 | G | GTGTGTGT others(7): Show |
1 | a0005c0005t0002g0125 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.236-354_236-353ins others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991707 | G | GTGTGTGT others(3): Show |
29 | a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0149 others(26): Show |
29 | HG00323.hp2 HG00639.hp2 HG01123.hp1 others(26): Show |
intron_variant | MODIFIER | c.236-354_236-353ins others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991707 | G | GTGTGTGT others(5): Show |
1 | a0001c0011t0001g0148 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.236-354_236-353ins others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991707 | G | GTGTGTGT others(5): Show |
11 | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0167 others(8): Show |
11 | HG00597.hp2 HG01928.hp2 HG02080.hp2 others(8): Show |
intron_variant | MODIFIER | c.236-354_236-353ins others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991707 | GTA | G | 3 | a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0022t0002g0003 |
3 | HG01243.hp1 HG03041.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.236-338_236-337del others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991707 | GTATA | G | 4 | a0009c0009t0008g0009 a0010c0010t0002g0237 a0010c0010t0002g0238 others(1): Show |
4 | HG02809.hp1 HG02818.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.236-340_236-337del others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991707 | GTATATAT others(1): Show |
G | 3 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 |
3 | HG02723.hp1 HG03453.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.236-344_236-337del others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991707 | GTATATAT others(3): Show |
G | 1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.236-346_236-337del others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | ||||||
chr1:179991709 | A | G | 34 | a0002c0002t0002g0004 a0002c0002t0002g0077 a0002c0002t0002g0130 others(31): Show |
35 | HG00323.hp1 HG00544.hp1 HG00558.hp2 others(32): Show |
intron_variant | MODIFIER | c.236-353A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991709 | |||||||
chr1:179991711 | A | G | 12 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0002t0004g0021 others(9): Show |
13 | HG00558.hp2 HG00597.hp1 HG01168.hp1 others(10): Show |
intron_variant | MODIFIER | c.236-351A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991711 | |||||||
chr1:179991713 | A | G | 4 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0002t0004g0021 others(1): Show |
5 | HG02055.hp1 HG02129.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.236-349A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991713 | |||||||
chr1:179991715 | A | G | 2 | a0009c0009t0008g0009 a0009c0009t0008g0010 |
2 | HG02809.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.236-347A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991715 | |||||||
chr1:179991717 | A | G | 5 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(2): Show |
5 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.236-345A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991717 | |||||||
chr1:179991719 | A | G | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.236-343A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991719 | |||||||
chr1:179991746 | G | A | 4 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(1): Show |
4 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.236-316G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991746 | |||||||
chr1:179991750 | G | T | 1 | a0001c0001t0001g0155 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.236-312G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991750 | |||||||
chr1:179991905 | A | G | 16 | a0004c0004t0003g0043 a0004c0004t0003g0046 a0004c0004t0003g0047 others(13): Show |
16 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(13): Show |
intron_variant | MODIFIER | c.236-157A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991905 | |||||||
chr1:179992229 | T | C | 7 | a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0194 others(4): Show |
7 | HG01258.hp1 HG01928.hp2 NA18946.hp2 others(4): Show |
splice_region_variant&intron_variant | LOW | c.395+8T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992229 | |||||||
chr1:179992233 | GA | G | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.395+22delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr1 | 179992233 | ||||||
chr1:179992332 | A | G | 2 | a0003c0003t0002g0079 a0003c0003t0002g0080 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.395+111A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992332 | |||||||
chr1:179992574 | T | C | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.395+353T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992574 | |||||||
chr1:179992615 | G | C | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.395+394G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992615 | |||||||
chr1:179992695 | G | A | 1 | a0018c0032t0002g0129 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.395+474G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992695 | |||||||
chr1:179992700 | C | A | 1 | a0001c0001t0001g0071 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.395+479C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992700 | |||||||
chr1:179992933 | A | C | 1 | a0002c0002t0003g0044 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.395+712A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992933 | |||||||
chr1:179993280 | T | G | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.395+1059T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179993280 | |||||||
chr1:179993633 | AGGGTGGT others(12): Show |
A | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.395+1434_395+1452d others(21): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr1 | 179993633 | ||||||
chr1:179993713 | GA | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.395+1493delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179993713 | |||||||
chr1:179993829 | T | G | 1 | a0002c0002t0005g0133 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.395+1608T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179993829 | |||||||
chr1:179993901 | A | G | 1 | a0003c0003t0002g0105 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.395+1680A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179993901 | |||||||
chr1:179994022 | C | G | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.395+1801C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179994022 | |||||||
chr1:179994456 | C | CT | 26 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(23): Show |
26 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(23): Show |
intron_variant | MODIFIER | c.396-2082dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr1 | 179994456 | ||||||
chr1:179994456 | C | CTT | 6 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(3): Show |
6 | HG01243.hp1 HG02698.hp2 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.396-2083_396-2082d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr1 | 179994456 | ||||||
chr1:179994776 | A | G | 1 | a0002c0016t0003g0045 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.396-1777A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179994776 | |||||||
chr1:179994874 | T | C | 29 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(26): Show |
29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.396-1679T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179994874 | |||||||
chr1:179994940 | G | A | 1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.396-1613G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179994940 | |||||||
chr1:179995015 | A | G | 1 | a0002c0002t0004g0023 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.396-1538A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995015 | |||||||
chr1:179995024 | C | A | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.396-1529C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995024 | |||||||
chr1:179995027 | C | A | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.396-1526C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995027 | |||||||
chr1:179995082 | C | T | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.396-1471C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995082 | |||||||
chr1:179995223 | A | AC | 3 | a0001c0001t0001g0146 a0001c0001t0001g0226 a0001c0033t0001g0174 |
3 | NA18995.hp2 NA19002.hp2 NA19081.hp1 |
intron_variant | MODIFIER | c.396-1329dupC | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr1 | 179995223 | ||||||
chr1:179995530 | G | A | 7 | a0002c0002t0015g0020 a0002c0020t0019g0011 a0008c0029t0010g0012 others(4): Show |
7 | HG02572.hp1 HG02723.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.396-1023G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995530 | |||||||
chr1:179995551 | G | A | 30 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.396-1002G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995551 | |||||||
chr1:179995744 | A | G | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.396-809A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995744 | |||||||
chr1:179995799 | C | A | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.396-754C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995799 | |||||||
chr1:179995891 | C | T | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.396-662C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995891 | |||||||
chr1:179995898 | A | G | 3 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0016t0003g0045 |
4 | HG02055.hp1 HG02451.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.396-655A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995898 | |||||||
chr1:179996002 | G | A | 163 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(160): Show |
164 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.396-551G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179996002 | |||||||
chr1:179996091 | T | G | 163 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(160): Show |
164 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.396-462T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179996091 | |||||||
chr1:179997308 | G | A | 1 | a0002c0020t0019g0011 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1018+133G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179997308 | |||||||
chr1:179997367 | C | G | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.1018+192C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179997367 | |||||||
chr1:179997404 | G | A | 1 | a0002c0002t0002g0244 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1018+229G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179997404 | |||||||
chr1:179997522 | C | T | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.1018+347C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179997522 | |||||||
chr1:179997543 | C | CA | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0002c0002t0002g0004 others(17): Show |
20 | HG00323.hp1 HG01123.hp2 HG01256.hp2 others(17): Show |
intron_variant | MODIFIER | c.1018+386dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179997543 | ||||||
chr1:179997543 | C | CAA | 19 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(16): Show |
19 | HG00558.hp2 HG00738.hp1 HG00738.hp2 others(16): Show |
intron_variant | MODIFIER | c.1018+385_1018+386d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179997543 | ||||||
chr1:179997584 | A | T | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1018+409A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179997584 | |||||||
chr1:179997918 | A | G | 1 | a0001c0033t0001g0174 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.1018+743A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179997918 | |||||||
chr1:179998009 | CT | C | 161 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(158): Show |
162 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(159): Show |
intron_variant | MODIFIER | c.1018+847delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998009 | ||||||
chr1:179998220 | G | C | 4 | a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 others(1): Show |
4 | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.1018+1045G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998220 | |||||||
chr1:179998248 | G | A | 4 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(1): Show |
4 | HG02258.hp1 HG03130.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1018+1073G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998248 | |||||||
chr1:179998295 | T | C | 29 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(26): Show |
29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.1018+1120T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998295 | |||||||
chr1:179998297 | T | TATTA | 29 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(26): Show |
29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.1018+1125_1018+112 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998297 | ||||||
chr1:179998300 | T | TAATTTTC | 6 | a0002c0002t0004g0023 a0002c0002t0004g0024 a0002c0002t0004g0025 others(3): Show |
6 | HG02886.hp1 HG03098.hp2 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.1018+1125_1018+112 others(11): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998300 | |||||||
chr1:179998303 | C | CT | 13 | a0002c0002t0003g0044 a0002c0002t0005g0135 a0002c0002t0007g0067 others(10): Show |
13 | HG01175.hp1 HG01346.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.1018+1151dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998303 | ||||||
chr1:179998303 | C | CTT | 13 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0026 others(10): Show |
13 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(10): Show |
intron_variant | MODIFIER | c.1018+1150_1018+115 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998303 | ||||||
chr1:179998303 | C | T | 6 | a0002c0002t0004g0023 a0002c0002t0004g0024 a0002c0002t0004g0025 others(3): Show |
6 | HG02886.hp1 HG03098.hp2 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.1018+1128C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998303 | |||||||
chr1:179998307 | T | TC | 4 | a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0194 others(1): Show |
4 | NA18612.hp2 NA18953.hp1 NA19012.hp2 others(1): Show |
intron_variant | MODIFIER | c.1018+1132_1018+113 others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998307 | |||||||
chr1:179998308 | T | C | 90 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(87): Show |
90 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(87): Show |
intron_variant | MODIFIER | c.1018+1133T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998308 | |||||||
chr1:179998309 | T | TTC | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.1018+1135_1018+113 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998309 | ||||||
chr1:179998311 | T | TTC | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1018+1137_1018+113 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998311 | ||||||
chr1:179998348 | G | A | 1 | a0022c0030t0001g0217 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.1018+1173G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998348 | |||||||
chr1:179998447 | A | G | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.1018+1272A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998447 | |||||||
chr1:179998702 | C | G | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1018+1527C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998702 | |||||||
chr1:179998783 | C | T | 1 | a0001c0001t0001g0165 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1018+1608C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998783 | |||||||
chr1:179998889 | G | GA | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.1018+1717dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998889 | ||||||
chr1:179998975 | C | T | 1 | a0001c0001t0001g0183 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1018+1800C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998975 | |||||||
chr1:179999086 | C | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.1018+1911C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179999086 | |||||||
chr1:179999150 | C | T | 1 | a0002c0020t0019g0011 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1018+1975C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179999150 | |||||||
chr1:179999154 | G | A | 137 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(134): Show |
137 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(134): Show |
intron_variant | MODIFIER | c.1018+1979G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179999154 | |||||||
chr1:179999253 | A | T | 2 | a0005c0005t0002g0126 a0005c0005t0002g0136 |
2 | HG02559.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.1018+2078A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179999253 | |||||||
chr1:179999475 | AT | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1018+2309delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179999475 | ||||||
chr1:180000101 | A | G | 1 | a0022c0030t0001g0217 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.1018+2926A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000101 | |||||||
chr1:180000315 | C | T | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1019-2859C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000315 | |||||||
chr1:180000316 | G | A | 19 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0016t0003g0045 others(16): Show |
20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.1019-2858G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000316 | |||||||
chr1:180000340 | C | CT | 33 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(30): Show |
33 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(30): Show |
intron_variant | MODIFIER | c.1019-2820dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 180000340 | ||||||
chr1:180000511 | T | A | 3 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0016c0018t0001g0040 |
3 | HG02004.hp2 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1019-2663T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000511 | |||||||
chr1:180000512 | T | A | 3 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0016c0018t0001g0040 |
3 | HG02004.hp2 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1019-2662T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000512 | |||||||
chr1:180000513 | T | A | 3 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0016c0018t0001g0040 |
3 | HG02004.hp2 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1019-2661T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000513 | |||||||
chr1:180000521 | A | G | 1 | a0001c0001t0001g0150 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1019-2653A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000521 | |||||||
chr1:180000549 | G | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.1019-2625G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000549 | |||||||
chr1:180000813 | G | A | 1 | a0002c0002t0020g0035 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1019-2361G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000813 | |||||||
chr1:180000836 | G | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1019-2338G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000836 | |||||||
chr1:180000878 | A | G | 1 | a0001c0001t0001g0194 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1019-2296A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000878 | |||||||
chr1:180000914 | A | G | 44 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(41): Show |
44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.1019-2260A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000914 | |||||||
chr1:180001016 | T | C | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.1019-2158T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180001016 | |||||||
chr1:180001153 | C | A | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1019-2021C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180001153 | |||||||
chr1:180001447 | T | C | 1 | a0001c0001t0001g0158 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1019-1727T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180001447 | |||||||
chr1:180001584 | G | A | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1019-1590G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180001584 | |||||||
chr1:180001666 | T | A | 2 | a0004c0004t0003g0048 a0004c0004t0003g0051 |
2 | HG02257.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.1019-1508T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180001666 | |||||||
chr1:180002061 | T | C | 1 | a0001c0001t0001g0220 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1019-1113T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002061 | |||||||
chr1:180002349 | C | G | 2 | a0002c0007t0002g0059 a0002c0007t0002g0060 |
2 | HG03130.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1019-825C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002349 | |||||||
chr1:180002352 | T | G | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1019-822T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002352 | |||||||
chr1:180002568 | A | G | 4 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(1): Show |
4 | HG01192.hp1 HG02004.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.1019-606A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002568 | |||||||
chr1:180002722 | G | A | 46 | a0003c0003t0001g0092 a0003c0003t0002g0078 a0003c0003t0002g0079 others(43): Show |
46 | HG00544.hp1 HG01261.hp1 HG02015.hp1 others(43): Show |
intron_variant | MODIFIER | c.1019-452G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002722 | |||||||
chr1:180002816 | A | G | 2 | a0003c0003t0002g0079 a0003c0003t0002g0080 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.1019-358A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002816 | |||||||
chr1:180002901 | A | G | 3 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0016t0003g0045 |
4 | HG02055.hp1 HG02451.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1019-273A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002901 | |||||||
chr1:180003158 | T | A | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1019-16T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180003158 | |||||||
chr1:180003330 | A | G | 1 | a0002c0020t0019g0011 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1132+43A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180003330 | |||||||
chr1:180003335 | A | G | 1 | a0002c0020t0019g0011 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1132+48A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180003335 | |||||||
chr1:180003417 | G | A | 4 | a0004c0004t0003g0047 a0004c0004t0003g0052 a0004c0004t0003g0054 others(1): Show |
4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1132+130G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180003417 | |||||||
chr1:180003591 | C | T | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.1132+304C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180003591 | |||||||
chr1:180003808 | T | G | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1132+521T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180003808 | |||||||
chr1:180003854 | C | T | 10 | a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0136 others(7): Show |
10 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(7): Show |
intron_variant | MODIFIER | c.1132+567C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180003854 | |||||||
chr1:180004015 | A | G | 1 | a0018c0032t0002g0129 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1132+728A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004015 | |||||||
chr1:180004144 | G | T | 1 | a0002c0002t0002g0245 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1132+857G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004144 | |||||||
chr1:180004424 | C | G | 1 | a0001c0001t0001g0178 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.1132+1137C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004424 | |||||||
chr1:180004718 | T | C | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1132+1431T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004718 | |||||||
chr1:180004820 | A | G | 2 | a0002c0002t0003g0001 a0002c0002t0003g0044 |
3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1132+1533A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004820 | |||||||
chr1:180004864 | A | AGGCT | 20 | a0002c0002t0002g0127 a0002c0002t0002g0243 a0002c0002t0005g0122 others(17): Show |
21 | HG00733.hp2 HG01069.hp1 HG01074.hp2 others(18): Show |
intron_variant | MODIFIER | c.1133-1581_1133-157 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004864 | ||||||
chr1:180004864 | A | AGGCTGGC others(5): Show |
1 | a0008c0029t0010g0012 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1132+1578_1133-157 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004864 | ||||||
chr1:180004864 | AGGCT | A | 4 | a0002c0016t0003g0045 a0004c0004t0003g0055 a0004c0004t0003g0056 others(1): Show |
4 | HG02615.hp2 HG02698.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1133-1581_1133-157 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004864 | ||||||
chr1:180004869 | GGCTGGCT others(5): Show |
G | 2 | a0001c0001t0001g0204 a0004c0004t0003g0053 |
2 | HG02647.hp2 HG03654.hp2 |
intron_variant | MODIFIER | c.1133-1581_1133-157 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004869 | ||||||
chr1:180004873 | G | GGCTT | 9 | a0002c0002t0002g0130 a0003c0003t0002g0090 a0003c0003t0002g0093 others(6): Show |
9 | HG02027.hp1 HG02056.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.1133-1548_1133-154 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | ||||||
chr1:180004873 | G | T | 14 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0004c0004t0003g0043 others(11): Show |
15 | HG01516.hp1 HG01517.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.1133-1581G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004873 | |||||||
chr1:180004873 | GGCTTGCT others(1): Show |
G | 4 | a0001c0001t0001g0187 a0002c0002t0002g0244 a0002c0002t0002g0245 others(1): Show |
4 | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.1133-1552_1133-154 others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | ||||||
chr1:180004873 | GGCTTGCT others(5): Show |
G | 8 | a0002c0002t0004g0031 a0002c0002t0015g0020 a0006c0008t0011g0017 others(5): Show |
8 | HG00323.hp1 HG02572.hp1 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.1133-1556_1133-154 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | ||||||
chr1:180004873 | GGCTTGCT others(9): Show |
G | 7 | a0001c0001t0001g0153 a0001c0001t0001g0170 a0001c0001t0001g0225 others(4): Show |
7 | HG00597.hp1 HG01069.hp2 HG01516.hp2 others(4): Show |
intron_variant | MODIFIER | c.1133-1560_1133-154 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | ||||||
chr1:180004873 | GGCTTGCT others(13): Show |
G | 11 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(8): Show |
11 | HG00558.hp2 HG00738.hp1 HG01123.hp2 others(8): Show |
intron_variant | MODIFIER | c.1133-1564_1133-154 others(24): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | ||||||
chr1:180004873 | GGCTTGCT others(17): Show |
G | 11 | a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0025 others(8): Show |
11 | HG01109.hp2 HG01256.hp2 HG01258.hp2 others(8): Show |
intron_variant | MODIFIER | c.1133-1568_1133-154 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | ||||||
chr1:180004873 | GGCTTGCT others(21): Show |
G | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.1133-1572_1133-154 others(32): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | ||||||
chr1:180004885 | T | G | 3 | a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0016g0246 |
3 | HG02109.hp1 HG02486.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.1133-1569T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004885 | |||||||
chr1:180004889 | T | G | 10 | a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0015g0020 others(7): Show |
10 | HG00323.hp1 HG02109.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.1133-1565T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004889 | |||||||
chr1:180004890 | G | T | 1 | a0002c0002t0004g0031 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.1133-1564G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004890 | |||||||
chr1:180004893 | T | G | 4 | a0002c0002t0004g0021 a0002c0002t0004g0024 a0002c0002t0004g0034 others(1): Show |
4 | HG00597.hp1 HG02129.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.1133-1561T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004893 | |||||||
chr1:180004894 | G | T | 1 | a0002c0002t0004g0031 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.1133-1560G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004894 | |||||||
chr1:180004894 | GCTTGCTT others(9): Show |
G | 1 | a0007c0006t0002g0231 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1133-1556_1133-154 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004894 | ||||||
chr1:180004897 | T | G | 5 | a0002c0002t0004g0033 a0002c0002t0004g0036 a0002c0002t0004g0037 others(2): Show |
5 | HG00558.hp2 HG00738.hp1 HG01123.hp2 others(2): Show |
intron_variant | MODIFIER | c.1133-1557T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004897 | |||||||
chr1:180004898 | G | T | 95 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(92): Show |
95 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(92): Show |
intron_variant | MODIFIER | c.1133-1556G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004898 | |||||||
chr1:180004901 | T | G | 11 | a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0025 others(8): Show |
11 | HG01109.hp2 HG01256.hp2 HG01258.hp2 others(8): Show |
intron_variant | MODIFIER | c.1133-1553T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004901 | |||||||
chr1:180004902 | G | GCTTTCTT others(1): Show |
3 | a0002c0002t0005g0124 a0002c0002t0005g0134 a0011c0012t0009g0065 |
3 | HG01167.hp2 HG01169.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1133-1549_1133-154 others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004902 | ||||||
chr1:180004902 | G | GCTTTCTT others(5): Show |
4 | a0003c0003t0002g0108 a0003c0003t0002g0116 a0003c0003t0002g0118 others(1): Show |
4 | HG02040.hp1 NA19030.hp2 NA19062.hp2 others(1): Show |
intron_variant | MODIFIER | c.1133-1549_1133-154 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004902 | ||||||
chr1:180004902 | G | GCTTTCTT others(9): Show |
1 | a0002c0002t0005g0133 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1133-1549_1133-154 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004902 | ||||||
chr1:180004902 | G | T | 102 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(99): Show |
102 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(99): Show |
intron_variant | MODIFIER | c.1133-1552G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004902 | |||||||
chr1:180004902 | GCTTGCTT others(9): Show |
G | 1 | a0003c0003t0002g0079 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1133-1548_1133-153 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004902 | ||||||
chr1:180004906 | G | GCTTGCTT others(17): Show |
1 | a0002c0007t0002g0060 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1133-1545_1133-154 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTGCTT others(9): Show |
2 | a0005c0005t0002g0126 a0005c0005t0002g0138 |
2 | HG01891.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTGCTT others(13): Show |
3 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0005c0005t0002g0143 |
3 | HG02258.hp1 HG03669.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(24): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTGCTT others(17): Show |
1 | a0005c0005t0002g0141 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1133-1545_1133-154 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTGCTT others(21): Show |
1 | a0002c0020t0019g0011 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1133-1545_1133-154 others(32): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTGCTT others(5): Show |
2 | a0003c0003t0002g0097 a0003c0003t0002g0115 |
2 | HG02165.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTGCTT others(9): Show |
1 | a0005c0005t0002g0136 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1133-1545_1133-154 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTGCTT others(13): Show |
3 | a0002c0007t0002g0242 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02896.hp1 HG02897.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(24): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTGCTT others(17): Show |
2 | a0005c0005t0002g0125 a0010c0010t0002g0237 |
2 | HG01074.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTGCTT others(1): Show |
4 | a0003c0003t0002g0102 a0003c0003t0002g0112 a0008c0015t0002g0131 others(1): Show |
4 | HG00544.hp1 HG02135.hp2 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTGCTT others(5): Show |
1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1133-1545_1133-154 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTGCTT others(9): Show |
2 | a0002c0007t0002g0241 a0005c0005t0002g0142 |
2 | HG03098.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTT | 14 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0002t0005g0128 others(11): Show |
14 | HG00733.hp2 HG01261.hp1 HG01346.hp1 others(11): Show |
intron_variant | MODIFIER | c.1133-1502_1133-149 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTTCTT others(1): Show |
13 | a0002c0002t0005g0122 a0002c0002t0007g0067 a0003c0003t0002g0085 others(10): Show |
13 | HG01099.hp2 HG01516.hp1 HG01517.hp1 others(10): Show |
intron_variant | MODIFIER | c.1133-1506_1133-149 others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTTCTT others(5): Show |
9 | a0002c0002t0002g0244 a0002c0002t0005g0135 a0002c0002t0016g0246 others(6): Show |
9 | HG01175.hp1 HG02486.hp1 HG02698.hp1 others(6): Show |
intron_variant | MODIFIER | c.1133-1510_1133-149 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTTCTT others(9): Show |
8 | a0002c0002t0002g0245 a0002c0002t0007g0064 a0002c0016t0003g0045 others(5): Show |
8 | HG02109.hp1 HG02486.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.1133-1514_1133-149 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | GCTTTCTT others(17): Show |
1 | a0004c0004t0003g0047 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1133-1522_1133-149 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004906 | G | T | 123 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(120): Show |
123 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(120): Show |
intron_variant | MODIFIER | c.1133-1548G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004906 | |||||||
chr1:180004906 | GCTTT | G | 9 | a0002c0002t0002g0073 a0002c0002t0002g0077 a0002c0002t0005g0123 others(6): Show |
9 | HG02723.hp2 HG02922.hp2 HG02965.hp1 others(6): Show |
intron_variant | MODIFIER | c.1133-1502_1133-149 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | ||||||
chr1:180004910 | T | G | 10 | a0002c0002t0002g0076 a0003c0003t0002g0089 a0003c0003t0002g0091 others(7): Show |
10 | HG02056.hp1 HG02056.hp2 HG03486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1133-1544T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004910 | |||||||
chr1:180004914 | T | G | 2 | a0002c0002t0005g0123 a0003c0003t0002g0082 |
2 | HG06807.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1133-1540T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004914 | |||||||
chr1:180004925 | TTC | T | 77 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(74): Show |
77 | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(74): Show |
intron_variant | MODIFIER | c.1133-1527_1133-152 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004925 | ||||||
chr1:180004927 | C | CTT | 9 | a0001c0001t0001g0070 a0001c0001t0001g0183 a0001c0001t0001g0184 others(6): Show |
9 | HG00323.hp2 HG01168.hp2 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.1133-1525_1133-152 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004927 | ||||||
chr1:180004931 | C | CTTTCTTT others(3): Show |
1 | a0001c0001t0001g0204 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1133-1521_1133-151 others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004931 | ||||||
chr1:180004931 | C | CTTTCTTT others(7): Show |
3 | a0001c0001t0001g0153 a0001c0001t0001g0170 a0001c0001t0001g0225 |
3 | HG01069.hp2 HG01516.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.1133-1521_1133-150 others(18): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004931 | ||||||
chr1:180004955 | C | CTTT | 5 | a0001c0001t0001g0072 a0001c0001t0001g0153 a0001c0001t0001g0170 others(2): Show |
5 | HG01069.hp2 HG01516.hp2 HG01517.hp2 others(2): Show |
intron_variant | MODIFIER | c.1133-1499_1133-149 others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004955 | |||||||
chr1:180004958 | CT | C | 89 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(86): Show |
89 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(86): Show |
intron_variant | MODIFIER | c.1133-1495delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004958 | |||||||
chr1:180004959 | T | C | 5 | a0001c0001t0001g0072 a0001c0001t0001g0153 a0001c0001t0001g0170 others(2): Show |
5 | HG01069.hp2 HG01516.hp2 HG01517.hp2 others(2): Show |
intron_variant | MODIFIER | c.1133-1495T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004959 | |||||||
chr1:180004980 | CT | C | 33 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(30): Show |
33 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.1133-1464delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004980 | ||||||
chr1:180005077 | C | CT | 6 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(3): Show |
6 | HG01243.hp1 HG02809.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.1133-1368dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180005077 | ||||||
chr1:180005154 | A | G | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1133-1300A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005154 | |||||||
chr1:180005172 | G | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1133-1282G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005172 | |||||||
chr1:180005297 | G | T | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.1133-1157G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005297 | |||||||
chr1:180005367 | T | A | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.1133-1087T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005367 | |||||||
chr1:180005442 | A | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1133-1012A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005442 | |||||||
chr1:180005479 | A | G | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.1133-975A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005479 | |||||||
chr1:180005497 | G | A | 9 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(6): Show |
9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.1133-957G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005497 | |||||||
chr1:180005989 | G | A | 1 | a0001c0001t0001g0170 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1133-465G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005989 | |||||||
chr1:180006056 | A | G | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.1133-398A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180006056 | |||||||
chr1:180006318 | A | T | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.1133-136A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180006318 | |||||||
chr1:180006362 | A | G | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1133-92A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180006362 | |||||||
chr1:180006622 | T | A | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1246+55T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180006622 | |||||||
chr1:180006856 | T | C | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1246+289T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180006856 | |||||||
chr1:180007005 | A | G | 1 | a0021c0026t0001g0181 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1246+438A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007005 | |||||||
chr1:180007053 | G | T | 1 | a0001c0001t0001g0147 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1246+486G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007053 | |||||||
chr1:180007217 | C | T | 4 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 others(1): Show |
4 | HG01891.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.1246+650C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007217 | |||||||
chr1:180007286 | T | C | 1 | a0002c0002t0005g0128 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1246+719T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007286 | |||||||
chr1:180007327 | T | G | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.1246+760T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007327 | |||||||
chr1:180007422 | G | A | 1 | a0003c0003t0002g0121 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.1246+855G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007422 | |||||||
chr1:180007505 | C | T | 1 | a0015c0019t0001g0223 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1246+938C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007505 | |||||||
chr1:180007520 | A | G | 1 | a0005c0005t0002g0141 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1246+953A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007520 | |||||||
chr1:180007548 | G | A | 1 | a0001c0001t0001g0144 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.1246+981G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007548 | |||||||
chr1:180007595 | G | T | 1 | a0015c0019t0001g0223 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1246+1028G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007595 | |||||||
chr1:180007679 | C | T | 1 | a0002c0007t0002g0241 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1246+1112C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007679 | |||||||
chr1:180007762 | A | T | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1246+1195A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007762 | |||||||
chr1:180007798 | CATT | C | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.1246+1232_1246+123 others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007798 | |||||||
chr1:180007839 | C | CGT | 17 | a0001c0001t0001g0171 a0002c0002t0002g0006 a0002c0002t0002g0073 others(14): Show |
17 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(14): Show |
intron_variant | MODIFIER | c.1246+1311_1246+131 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | ||||||
chr1:180007839 | C | CGTGT | 30 | a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0156 others(27): Show |
30 | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.1246+1309_1246+131 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | ||||||
chr1:180007839 | C | CGTGTGT | 33 | a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0070 others(30): Show |
33 | HG00323.hp2 HG00639.hp2 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1246+1307_1246+131 others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | ||||||
chr1:180007839 | C | CGTGTGTG others(1): Show |
44 | a0001c0001t0001g0071 a0001c0001t0001g0144 a0001c0001t0001g0146 others(41): Show |
44 | HG00544.hp2 HG00733.hp1 HG01069.hp2 others(41): Show |
intron_variant | MODIFIER | c.1246+1305_1246+131 others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | ||||||
chr1:180007839 | C | CGTGTGTG others(3): Show |
14 | a0001c0001t0001g0041 a0001c0001t0001g0145 a0001c0001t0001g0182 others(11): Show |
14 | HG01167.hp1 HG01928.hp2 HG02004.hp2 others(11): Show |
intron_variant | MODIFIER | c.1246+1303_1246+131 others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | ||||||
chr1:180007839 | C | CGTGTGTG others(5): Show |
6 | a0001c0001t0001g0039 a0001c0001t0001g0178 a0001c0001t0001g0183 others(3): Show |
6 | HG01496.hp1 HG02080.hp1 HG02165.hp2 others(3): Show |
intron_variant | MODIFIER | c.1246+1301_1246+131 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | ||||||
chr1:180007839 | C | CGTGTGTG others(7): Show |
2 | a0001c0001t0001g0152 a0001c0001t0001g0192 |
2 | HG02922.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1246+1299_1246+131 others(18): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | ||||||
chr1:180007839 | CGT | C | 51 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0002t0005g0122 others(48): Show |
53 | HG00544.hp1 HG00639.hp1 HG01069.hp1 others(50): Show |
intron_variant | MODIFIER | c.1246+1311_1246+131 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | ||||||
chr1:180007839 | CGTGT | C | 19 | a0002c0002t0002g0127 a0004c0004t0003g0043 a0004c0004t0003g0046 others(16): Show |
19 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(16): Show |
intron_variant | MODIFIER | c.1246+1309_1246+131 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | ||||||
chr1:180007839 | CGTGTGT | C | 5 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(2): Show |
5 | HG02615.hp1 HG02723.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.1246+1307_1246+131 others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | ||||||
chr1:180007839 | CGTGTGTG others(1): Show |
C | 4 | a0003c0003t0002g0085 a0003c0003t0002g0104 a0007c0006t0002g0230 others(1): Show |
4 | HG01074.hp2 HG03490.hp1 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.1246+1305_1246+131 others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | ||||||
chr1:180007839 | CGTGTGTG others(3): Show |
C | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1246+1303_1246+131 others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | ||||||
chr1:180007839 | CGTGTGTG others(5): Show |
C | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.1246+1301_1246+131 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | ||||||
chr1:180008015 | A | G | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.1246+1448A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180008015 | |||||||
chr1:180008031 | A | C | 4 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(1): Show |
4 | HG02723.hp2 HG02922.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.1246+1464A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180008031 | |||||||
chr1:180008197 | G | C | 44 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(41): Show |
44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.1246+1630G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180008197 | |||||||
chr1:180008446 | G | GTTAGCTA | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.1246+1881_1246+188 others(11): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180008446 | ||||||
chr1:180008646 | T | C | 3 | a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0162 |
3 | HG00639.hp2 NA18971.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.1246+2079T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180008646 | |||||||
chr1:180008864 | G | T | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1246+2297G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180008864 | |||||||
chr1:180008928 | G | A | 4 | a0004c0004t0003g0047 a0004c0004t0003g0052 a0004c0004t0003g0054 others(1): Show |
4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1246+2361G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180008928 | |||||||
chr1:180009066 | C | G | 240 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(237): Show |
242 | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(239): Show |
intron_variant | MODIFIER | c.1246+2499C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180009066 | |||||||
chr1:180009100 | C | T | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.1246+2533C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180009100 | |||||||
chr1:180009222 | A | T | 1 | a0001c0001t0001g0155 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1246+2655A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180009222 | |||||||
chr1:180009514 | C | G | 9 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(6): Show |
9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.1247-2415C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180009514 | |||||||
chr1:180009758 | C | T | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.1247-2171C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180009758 | |||||||
chr1:180009957 | A | G | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1247-1972A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180009957 | |||||||
chr1:180010295 | T | C | 1 | a0001c0001t0001g0216 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1247-1634T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010295 | |||||||
chr1:180010404 | CT | C | 117 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(114): Show |
117 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(114): Show |
intron_variant | MODIFIER | c.1247-1506delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180010404 | ||||||
chr1:180010404 | CTT | C | 19 | a0001c0001t0001g0153 a0001c0001t0001g0197 a0001c0001t0001g0210 others(16): Show |
19 | HG01069.hp2 HG01074.hp2 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.1247-1507_1247-150 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180010404 | ||||||
chr1:180010492 | C | T | 1 | a0022c0030t0001g0217 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.1247-1437C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010492 | |||||||
chr1:180010515 | A | T | 1 | a0002c0002t0007g0064 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1247-1414A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010515 | |||||||
chr1:180010537 | C | T | 1 | a0001c0001t0001g0184 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1247-1392C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010537 | |||||||
chr1:180010582 | T | C | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.1247-1347T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010582 | |||||||
chr1:180010693 | T | C | 137 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(134): Show |
137 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(134): Show |
intron_variant | MODIFIER | c.1247-1236T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010693 | |||||||
chr1:180010714 | A | T | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1247-1215A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010714 | |||||||
chr1:180010749 | G | A | 1 | a0002c0002t0004g0027 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1247-1180G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010749 | |||||||
chr1:180010776 | T | A | 2 | a0002c0002t0003g0001 a0002c0002t0003g0044 |
3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1247-1153T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010776 | |||||||
chr1:180010958 | T | C | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.1247-971T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010958 | |||||||
chr1:180010987 | C | CT | 46 | a0003c0003t0001g0092 a0003c0003t0002g0078 a0003c0003t0002g0079 others(43): Show |
46 | HG00544.hp1 HG01261.hp1 HG02015.hp1 others(43): Show |
intron_variant | MODIFIER | c.1247-933dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180010987 | ||||||
chr1:180011060 | G | A | 2 | a0008c0015t0002g0131 a0008c0015t0002g0132 |
2 | HG02622.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1247-869G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180011060 | |||||||
chr1:180011085 | T | C | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.1247-844T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180011085 | |||||||
chr1:180011278 | ACTCTTTG others(14): Show |
A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1247-649_1247-629d others(23): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180011278 | ||||||
chr1:180011544 | C | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.1247-385C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180011544 | |||||||
chr1:180011566 | T | C | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1247-363T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180011566 | |||||||
chr1:180011919 | A | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1247-10A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180011919 | |||||||
chr1:180012317 | A | C | 1 | a0001c0001t0001g0183 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1393+242A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180012317 | |||||||
chr1:180012407 | A | G | 1 | a0002c0002t0007g0068 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1393+332A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180012407 | |||||||
chr1:180012767 | G | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.1393+692G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180012767 | |||||||
chr1:180012823 | C | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1393+748C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180012823 | |||||||
chr1:180013196 | G | T | 1 | a0002c0020t0019g0011 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1394-651G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180013196 | |||||||
chr1:180013208 | A | C | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.1394-639A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180013208 | |||||||
chr1:180013268 | T | G | 1 | a0007c0006t0002g0227 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1394-579T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180013268 | |||||||
chr1:180013425 | G | T | 163 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(160): Show |
164 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.1394-422G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180013425 | |||||||
chr1:180013549 | C | T | 1 | a0002c0016t0003g0045 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1394-298C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180013549 | |||||||
chr1:180013803 | G | T | 3 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 |
3 | HG00323.hp2 HG01261.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1394-44G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180013803 | |||||||
chr1:180014530 | G | A | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.2052+25G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180014530 | |||||||
chr1:180014856 | A | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.2052+351A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180014856 | |||||||
chr1:180014877 | G | A | 240 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(237): Show |
242 | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(239): Show |
intron_variant | MODIFIER | c.2052+372G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180014877 | |||||||
chr1:180014921 | T | C | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2052+416T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180014921 | |||||||
chr1:180014994 | ATAT | A | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.2052+495_2052+497d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | 180014994 | ||||||
chr1:180015137 | CAA | C | 5 | a0001c0001t0001g0155 a0001c0001t0001g0168 a0001c0001t0001g0171 others(2): Show |
5 | HG00558.hp1 HG01243.hp2 HG01346.hp2 others(2): Show |
intron_variant | MODIFIER | c.2052+633_2052+634d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015137 | |||||||
chr1:180015207 | A | ATTGT | 4 | a0002c0002t0004g0025 a0010c0010t0002g0237 a0010c0010t0002g0238 others(1): Show |
4 | HG02818.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.2053-639_2053-636d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | 180015207 | ||||||
chr1:180015210 | G | GTTTA | 48 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0145 others(45): Show |
49 | HG01069.hp1 HG01099.hp1 HG01167.hp2 others(46): Show |
intron_variant | MODIFIER | c.2053-599_2053-596d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | 180015210 | ||||||
chr1:180015210 | G | GTTTATTT others(1): Show |
6 | a0001c0001t0001g0156 a0001c0001t0001g0158 a0002c0007t0002g0242 others(3): Show |
6 | HG00544.hp2 HG01516.hp1 HG01517.hp1 others(3): Show |
intron_variant | MODIFIER | c.2053-603_2053-596d others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | 180015210 | ||||||
chr1:180015210 | GTTTA | G | 49 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(46): Show |
50 | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.2053-599_2053-596d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | 180015210 | ||||||
chr1:180015210 | GTTTATTT others(9): Show |
G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.2053-611_2053-596d others(18): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | 180015210 | ||||||
chr1:180015214 | A | G | 13 | a0001c0001t0001g0038 a0002c0002t0004g0022 a0002c0002t0004g0023 others(10): Show |
13 | HG00558.hp2 HG01192.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.2053-635A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015214 | |||||||
chr1:180015218 | A | G | 8 | a0002c0002t0004g0021 a0002c0002t0004g0030 a0002c0002t0004g0031 others(5): Show |
8 | HG00597.hp1 HG00738.hp1 HG01109.hp2 others(5): Show |
intron_variant | MODIFIER | c.2053-631A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015218 | |||||||
chr1:180015258 | C | T | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.2053-591C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015258 | |||||||
chr1:180015303 | G | T | 19 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0016t0003g0045 others(16): Show |
20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.2053-546G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015303 | |||||||
chr1:180015384 | G | A | 2 | a0002c0002t0002g0004 a0002c0022t0002g0003 |
2 | HG01243.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.2053-465G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015384 | |||||||
chr1:180015476 | C | T | 24 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0007t0002g0058 others(21): Show |
25 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(22): Show |
intron_variant | MODIFIER | c.2053-373C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015476 | |||||||
chr1:180015554 | A | G | 1 | a0005c0005t0002g0137 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.2053-295A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015554 | |||||||
chr1:180015624 | A | G | 38 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(35): Show |
38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.2053-225A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015624 | |||||||
chr1:180015648 | G | A | 1 | a0003c0003t0002g0106 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2053-201G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015648 | |||||||
chr1:180016021 | C | T | 33 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(30): Show |
33 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.2174+51C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016021 | |||||||
chr1:180016297 | T | A | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+327T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016297 | |||||||
chr1:180016319 | T | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.2174+349T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016319 | |||||||
chr1:180016340 | T | A | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2174+370T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016340 | |||||||
chr1:180016371 | G | C | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.2174+401G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016371 | |||||||
chr1:180016579 | C | T | 1 | a0002c0007t0002g0058 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2174+609C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016579 | |||||||
chr1:180016659 | TG | T | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+690delG | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016659 | |||||||
chr1:180016660 | G | GT | 20 | a0001c0001t0001g0235 a0002c0002t0002g0004 a0002c0002t0002g0005 others(17): Show |
20 | HG01243.hp1 HG02258.hp1 HG02559.hp2 others(17): Show |
intron_variant | MODIFIER | c.2174+708dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr1 | 180016660 | ||||||
chr1:180016660 | G | GTT | 112 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(109): Show |
113 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(110): Show |
intron_variant | MODIFIER | c.2174+707_2174+708d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr1 | 180016660 | ||||||
chr1:180016660 | G | GTTT | 6 | a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0180 others(3): Show |
6 | HG00597.hp2 HG02027.hp2 HG02040.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+706_2174+708d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr1 | 180016660 | ||||||
chr1:180016660 | GT | G | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+708delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr1 | 180016660 | ||||||
chr1:180016813 | C | T | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+843C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016813 | |||||||
chr1:180016814 | A | G | 1 | a0002c0002t0004g0031 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.2174+844A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016814 | |||||||
chr1:180016870 | C | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+900C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016870 | |||||||
chr1:180016871 | C | G | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+901C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016871 | |||||||
chr1:180016873 | G | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+903G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016873 | |||||||
chr1:180016874 | G | C | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+904G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016874 | |||||||
chr1:180016876 | AGGTCTTA others(8): Show |
A | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+907_2174+921d others(17): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016876 | |||||||
chr1:180016892 | A | C | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+922A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016892 | |||||||
chr1:180016912 | C | T | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+942C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016912 | |||||||
chr1:180016986 | T | C | 10 | a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0136 others(7): Show |
10 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(7): Show |
intron_variant | MODIFIER | c.2174+1016T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016986 | |||||||
chr1:180017041 | A | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+1071A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017041 | |||||||
chr1:180017174 | C | G | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.2174+1204C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017174 | |||||||
chr1:180017215 | T | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0191 a0001c0001t0001g0192 |
3 | HG02922.hp1 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.2174+1245T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017215 | |||||||
chr1:180017276 | A | G | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.2174+1306A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017276 | |||||||
chr1:180017319 | A | G | 2 | a0001c0001t0001g0153 a0001c0001t0001g0170 |
2 | HG01069.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.2174+1349A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017319 | |||||||
chr1:180017388 | G | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0191 a0001c0001t0001g0192 |
3 | HG02922.hp1 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.2174+1418G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017388 | |||||||
chr1:180017473 | A | G | 3 | a0009c0009t0008g0008 a0009c0009t0008g0009 a0009c0009t0008g0010 |
3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.2174+1503A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017473 | |||||||
chr1:180017618 | A | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+1648A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017618 | |||||||
chr1:180017693 | G | A | 7 | a0002c0002t0005g0122 a0002c0002t0005g0123 a0002c0002t0005g0124 others(4): Show |
7 | HG00639.hp1 HG00733.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.2174+1723G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017693 | |||||||
chr1:180017694 | T | G | 7 | a0002c0002t0005g0122 a0002c0002t0005g0123 a0002c0002t0005g0124 others(4): Show |
7 | HG00639.hp1 HG00733.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.2174+1724T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017694 | |||||||
chr1:180017698 | T | C | 1 | a0008c0029t0010g0012 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2174+1728T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017698 | |||||||
chr1:180017733 | A | C | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+1763A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017733 | |||||||
chr1:180018331 | G | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2175-1618G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018331 | |||||||
chr1:180018446 | C | A | 1 | a0001c0001t0001g0218 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2175-1503C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018446 | |||||||
chr1:180018523 | T | C | 9 | a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 others(6): Show |
9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.2175-1426T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018523 | |||||||
chr1:180018623 | C | T | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.2175-1326C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018623 | |||||||
chr1:180018644 | C | A | 15 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(12): Show |
15 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(12): Show |
intron_variant | MODIFIER | c.2175-1305C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018644 | |||||||
chr1:180018679 | T | A | 15 | a0002c0020t0019g0011 a0006c0008t0006g0014 a0006c0008t0006g0015 others(12): Show |
15 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(12): Show |
intron_variant | MODIFIER | c.2175-1270T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018679 | |||||||
chr1:180018687 | G | A | 1 | a0008c0015t0002g0132 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2175-1262G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018687 | |||||||
chr1:180018722 | T | C | 1 | a0003c0003t0002g0236 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2175-1227T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018722 | |||||||
chr1:180018767 | T | C | 15 | a0002c0020t0019g0011 a0006c0008t0006g0014 a0006c0008t0006g0015 others(12): Show |
15 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(12): Show |
intron_variant | MODIFIER | c.2175-1182T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018767 | |||||||
chr1:180018856 | T | C | 95 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(92): Show |
95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.2175-1093T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018856 | |||||||
chr1:180018857 | C | CT | 90 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(87): Show |
90 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(87): Show |
intron_variant | MODIFIER | c.2175-1075dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr1 | 180018857 | ||||||
chr1:180018873 | T | A | 1 | a0002c0002t0004g0031 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.2175-1076T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018873 | |||||||
chr1:180018931 | A | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.2175-1018A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018931 | |||||||
chr1:180019021 | A | G | 4 | a0004c0004t0003g0047 a0004c0004t0003g0052 a0004c0004t0003g0054 others(1): Show |
4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.2175-928A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019021 | |||||||
chr1:180019280 | T | A | 1 | a0002c0020t0019g0011 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2175-669T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019280 | |||||||
chr1:180019340 | C | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.2175-609C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019340 | |||||||
chr1:180019463 | C | T | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.2175-486C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019463 | |||||||
chr1:180019808 | A | C | 2 | a0004c0004t0003g0048 a0004c0004t0003g0051 |
2 | HG02257.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.2175-141A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019808 | |||||||
chr1:180019844 | T | G | 2 | a0002c0007t0002g0241 a0002c0007t0002g0242 |
2 | HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2175-105T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019844 | |||||||
chr1:180019935 | A | G | 2 | a0001c0001t0001g0152 a0001c0001t0001g0192 |
2 | HG02922.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.2175-14A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019935 | |||||||
chr1:180021103 | C | T | 1 | a0002c0016t0003g0045 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3235+94C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180021103 | |||||||
chr1:180021231 | A | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3235+222A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180021231 | |||||||
chr1:180021428 | C | T | 1 | a0002c0020t0019g0011 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3235+419C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180021428 | |||||||
chr1:180021609 | G | A | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.3235+600G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180021609 | |||||||
chr1:180021644 | C | T | 2 | a0001c0001t0001g0152 a0001c0001t0001g0192 |
2 | HG02922.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.3235+635C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180021644 | |||||||
chr1:180021651 | C | CCTT | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.3235+644_3235+645i others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr1 | 180021651 | ||||||
chr1:180022256 | A | G | 1 | a0001c0001t0017g0207 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3236-442A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022256 | |||||||
chr1:180022267 | G | T | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.3236-431G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022267 | |||||||
chr1:180022278 | C | CT | 25 | a0001c0001t0001g0240 a0002c0002t0003g0001 a0002c0002t0003g0044 others(22): Show |
26 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(23): Show |
intron_variant | MODIFIER | c.3236-418dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr1 | 180022278 | ||||||
chr1:180022389 | G | T | 1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3236-309G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022389 | |||||||
chr1:180022457 | A | T | 33 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(30): Show |
33 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.3236-241A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022457 | |||||||
chr1:180022553 | A | T | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.3236-145A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022553 | |||||||
chr1:180022563 | A | G | 1 | a0009c0009t0008g0008 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3236-135A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022563 | |||||||
chr1:180022654 | T | C | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3236-44T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022654 | |||||||
chr1:180022941 | A | G | 163 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(160): Show |
164 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.3386+93A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180022941 | |||||||
chr1:180023187 | G | A | 1 | a0003c0003t0002g0102 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.3386+339G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180023187 | |||||||
chr1:180023202 | G | A | 7 | a0002c0002t0015g0020 a0007c0006t0002g0042 a0007c0006t0002g0227 others(4): Show |
7 | HG01074.hp2 HG02572.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.3386+354G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180023202 | |||||||
chr1:180023282 | GA | G | 19 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0016t0003g0045 others(16): Show |
20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.3386+443delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr1 | 180023282 | ||||||
chr1:180023752 | C | T | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.3387-667C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180023752 | |||||||
chr1:180023990 | A | G | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.3387-429A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180023990 | |||||||
chr1:180024080 | ATTG | A | 4 | a0002c0002t0005g0124 a0002c0002t0005g0133 a0002c0002t0005g0134 others(1): Show |
4 | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(1): Show |
intron_variant | MODIFIER | c.3387-336_3387-334d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr1 | 180024080 | ||||||
chr1:180024138 | G | A | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3387-281G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180024138 | |||||||
chr1:180024166 | T | A | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.3387-253T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180024166 | |||||||
chr1:180024288 | T | TAATA | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.3387-128_3387-125d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr1 | 180024288 | ||||||
chr1:180024621 | A | G | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.3550+39A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024621 | |||||||
chr1:180024658 | T | C | 173 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(170): Show |
174 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(171): Show |
intron_variant | MODIFIER | c.3550+76T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024658 | |||||||
chr1:180024709 | T | G | 4 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(1): Show |
4 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.3550+127T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024709 | |||||||
chr1:180024746 | A | G | 1 | a0001c0001t0001g0196 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.3550+164A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024746 | |||||||
chr1:180024823 | CAAAG | C | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3550+247_3550+250d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180024823 | ||||||
chr1:180024874 | T | C | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3550+292T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024874 | |||||||
chr1:180024893 | G | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3550+311G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024893 | |||||||
chr1:180024980 | A | G | 1 | a0008c0029t0010g0012 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3550+398A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024980 | |||||||
chr1:180024987 | T | C | 163 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(160): Show |
164 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.3550+405T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024987 | |||||||
chr1:180024993 | T | G | 1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3550+411T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024993 | |||||||
chr1:180025025 | T | C | 173 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(170): Show |
174 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(171): Show |
intron_variant | MODIFIER | c.3550+443T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025025 | |||||||
chr1:180025079 | C | T | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.3550+497C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025079 | |||||||
chr1:180025115 | G | T | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3550+533G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025115 | |||||||
chr1:180025146 | G | A | 1 | a0001c0033t0001g0174 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3550+564G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025146 | |||||||
chr1:180025160 | G | A | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.3550+578G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025160 | |||||||
chr1:180025379 | G | A | 29 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(26): Show |
29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.3550+797G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025379 | |||||||
chr1:180025389 | C | T | 1 | a0001c0001t0001g0179 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.3550+807C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025389 | |||||||
chr1:180025413 | C | T | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.3550+831C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025413 | |||||||
chr1:180025432 | T | C | 1 | a0001c0001t0001g0222 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3550+850T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025432 | |||||||
chr1:180025472 | A | G | 1 | a0003c0003t0002g0112 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.3550+890A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025472 | |||||||
chr1:180025493 | T | C | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.3550+911T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025493 | |||||||
chr1:180025667 | G | A | 1 | a0001c0001t0001g0232 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.3550+1085G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025667 | |||||||
chr1:180025790 | C | G | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.3550+1208C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025790 | |||||||
chr1:180025934 | A | G | 4 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 others(1): Show |
4 | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.3550+1352A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025934 | |||||||
chr1:180025955 | G | A | 19 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0016t0003g0045 others(16): Show |
20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.3550+1373G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025955 | |||||||
chr1:180026058 | CG | C | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.3550+1478delG | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180026058 | ||||||
chr1:180026186 | G | T | 3 | a0001c0001t0001g0152 a0001c0001t0001g0191 a0001c0001t0001g0192 |
3 | HG02922.hp1 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3550+1604G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026186 | |||||||
chr1:180026249 | C | T | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.3550+1667C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026249 | |||||||
chr1:180026270 | CA | C | 26 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(23): Show |
26 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(23): Show |
intron_variant | MODIFIER | c.3550+1703delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180026270 | ||||||
chr1:180026338 | C | T | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.3550+1756C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026338 | |||||||
chr1:180026356 | G | A | 3 | a0009c0009t0008g0008 a0009c0009t0008g0009 a0009c0009t0008g0010 |
3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.3550+1774G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026356 | |||||||
chr1:180026446 | A | G | 3 | a0005c0005t0002g0126 a0005c0005t0002g0136 a0023c0028t0010g0013 |
3 | HG02559.hp2 HG02976.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.3550+1864A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026446 | |||||||
chr1:180026489 | T | G | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.3550+1907T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026489 | |||||||
chr1:180026778 | A | G | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3550+2196A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026778 | |||||||
chr1:180026840 | G | A | 162 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(159): Show |
163 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(160): Show |
intron_variant | MODIFIER | c.3550+2258G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026840 | |||||||
chr1:180027060 | C | T | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3550+2478C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027060 | |||||||
chr1:180027155 | C | A | 1 | a0001c0001t0001g0144 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.3550+2573C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027155 | |||||||
chr1:180027278 | G | A | 3 | a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 |
3 | HG01168.hp2 HG03834.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.3550+2696G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027278 | |||||||
chr1:180027293 | A | G | 1 | a0006c0008t0006g0016 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3550+2711A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027293 | |||||||
chr1:180027390 | G | A | 1 | a0001c0001t0001g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.3550+2808G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027390 | |||||||
chr1:180027403 | G | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3550+2821G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027403 | |||||||
chr1:180027498 | A | G | 3 | a0005c0005t0002g0141 a0005c0005t0002g0142 a0005c0005t0002g0143 |
3 | HG03669.hp1 HG03834.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.3550+2916A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027498 | |||||||
chr1:180027547 | G | T | 1 | a0003c0003t0002g0114 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.3550+2965G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027547 | |||||||
chr1:180027616 | C | T | 1 | a0002c0002t0004g0021 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.3550+3034C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027616 | |||||||
chr1:180027844 | C | T | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3550+3262C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027844 | |||||||
chr1:180027883 | T | C | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.3550+3301T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027883 | |||||||
chr1:180027938 | C | T | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3550+3356C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027938 | |||||||
chr1:180028559 | G | A | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3551-2761G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180028559 | |||||||
chr1:180028570 | G | A | 1 | a0001c0001t0001g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.3551-2750G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180028570 | |||||||
chr1:180028588 | A | C | 1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3551-2732A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180028588 | |||||||
chr1:180028669 | T | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3551-2651T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180028669 | |||||||
chr1:180029510 | G | C | 38 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(35): Show |
38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.3551-1810G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180029510 | |||||||
chr1:180029544 | T | C | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.3551-1776T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180029544 | |||||||
chr1:180029628 | C | T | 2 | a0001c0001t0001g0197 a0001c0001t0001g0198 |
2 | NA18946.hp2 NA19055.hp1 |
intron_variant | MODIFIER | c.3551-1692C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180029628 | |||||||
chr1:180029697 | G | A | 131 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(128): Show |
131 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(128): Show |
intron_variant | MODIFIER | c.3551-1623G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180029697 | |||||||
chr1:180030068 | C | T | 25 | a0001c0001t0001g0240 a0002c0002t0003g0001 a0002c0002t0003g0044 others(22): Show |
26 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(23): Show |
intron_variant | MODIFIER | c.3551-1252C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030068 | |||||||
chr1:180030144 | T | A | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3551-1176T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030144 | |||||||
chr1:180030213 | G | GTA | 23 | a0001c0001t0001g0218 a0001c0001t0001g0240 a0003c0003t0001g0092 others(20): Show |
23 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(20): Show |
intron_variant | MODIFIER | c.3551-1091_3551-109 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180030213 | ||||||
chr1:180030213 | G | GTATA | 4 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(1): Show |
4 | HG01123.hp2 HG01256.hp2 HG01258.hp2 others(1): Show |
intron_variant | MODIFIER | c.3551-1093_3551-109 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180030213 | ||||||
chr1:180030213 | GTA | G | 12 | a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0221 others(9): Show |
12 | HG01123.hp1 HG01167.hp1 HG01256.hp1 others(9): Show |
intron_variant | MODIFIER | c.3551-1091_3551-109 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180030213 | ||||||
chr1:180030280 | CGTATATA others(27): Show |
C | 1 | a0001c0001t0001g0150 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.3551-1030_3551-997 others(37): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180030280 | ||||||
chr1:180030317 | A | ATATGTAT others(19): Show |
30 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.3551-1000_3551-999 others(29): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180030317 | ||||||
chr1:180030317 | A | ATATGTAT others(15): Show |
5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3551-1000_3551-999 others(25): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180030317 | ||||||
chr1:180030340 | T | C | 1 | a0018c0032t0002g0129 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.3551-980T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030340 | |||||||
chr1:180030343 | A | ATG | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3551-977_3551-976i others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030343 | |||||||
chr1:180030377 | T | C | 72 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(69): Show |
72 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(69): Show |
intron_variant | MODIFIER | c.3551-943T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030377 | |||||||
chr1:180030497 | T | C | 1 | a0005c0005t0002g0126 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.3551-823T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030497 | |||||||
chr1:180030513 | A | C | 1 | a0001c0001t0001g0194 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.3551-807A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030513 | |||||||
chr1:180030713 | G | A | 30 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.3551-607G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030713 | |||||||
chr1:180030732 | A | G | 1 | a0001c0001t0001g0215 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.3551-588A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030732 | |||||||
chr1:180030843 | T | A | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.3551-477T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030843 | |||||||
chr1:180030936 | A | C | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3551-384A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030936 | |||||||
chr1:180030961 | G | A | 1 | a0004c0004t0003g0053 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3551-359G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030961 | |||||||
chr1:180031055 | A | G | 1 | a0002c0002t0005g0133 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.3551-265A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180031055 | |||||||
chr1:180031169 | A | G | 1 | a0005c0005t0002g0138 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.3551-151A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180031169 | |||||||
chr1:180031222 | T | A | 1 | a0001c0001t0001g0184 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.3551-98T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180031222 | |||||||
chr1:180031259 | A | G | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3551-61A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180031259 | |||||||
chr1:180031262 | ATC | A | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3551-51_3551-50del others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180031262 | ||||||
chr1:180031583 | A | G | 1 | a0001c0001t0001g0072 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.3725+89A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180031583 | |||||||
chr1:180031643 | C | T | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3725+149C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180031643 | |||||||
chr1:180031749 | G | A | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.3725+255G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180031749 | |||||||
chr1:180031946 | C | A | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.3725+452C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180031946 | |||||||
chr1:180032002 | TC | T | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.3725+510delC | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | INFO_REALIGN_3_PRIME | chr1 | 180032002 | ||||||
chr1:180032024 | C | CTT | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3725+531_3725+532d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | INFO_REALIGN_3_PRIME | chr1 | 180032024 | ||||||
chr1:180032110 | T | C | 30 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.3725+616T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032110 | |||||||
chr1:180032381 | A | C | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.3725+887A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032381 | |||||||
chr1:180032573 | G | C | 2 | a0003c0003t0002g0079 a0003c0003t0002g0080 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.3725+1079G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032573 | |||||||
chr1:180032576 | A | G | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.3725+1082A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032576 | |||||||
chr1:180032622 | A | G | 2 | a0001c0001t0001g0178 a0001c0001t0012g0193 |
2 | HG02080.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.3725+1128A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032622 | |||||||
chr1:180032727 | T | C | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3726-1135T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032727 | |||||||
chr1:180032775 | T | C | 1 | a0001c0001t0001g0188 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.3726-1087T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032775 | |||||||
chr1:180032935 | A | G | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3726-927A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032935 | |||||||
chr1:180032948 | T | C | 1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3726-914T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032948 | |||||||
chr1:180032980 | C | T | 1 | a0001c0001t0001g0158 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.3726-882C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032980 | |||||||
chr1:180033008 | A | AT | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3726-853dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | INFO_REALIGN_3_PRIME | chr1 | 180033008 | ||||||
chr1:180033116 | G | A | 1 | a0002c0020t0019g0011 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3726-746G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033116 | |||||||
chr1:180033229 | G | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.3726-633G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033229 | |||||||
chr1:180033384 | G | A | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.3726-478G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033384 | |||||||
chr1:180033411 | C | T | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.3726-451C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033411 | |||||||
chr1:180033463 | G | A | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.3726-399G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033463 | |||||||
chr1:180033473 | A | G | 1 | a0001c0001t0017g0207 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3726-389A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033473 | |||||||
chr1:180033553 | T | G | 1 | a0002c0002t0004g0021 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.3726-309T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033553 | |||||||
chr1:180033848 | A | G | 8 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0007c0006t0002g0042 others(5): Show |
9 | HG01074.hp2 HG02055.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.3726-14A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033848 | |||||||
chr1:180034142 | C | A | 30 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.3946+60C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034142 | |||||||
chr1:180034157 | TTTGAG | T | 4 | a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0234 others(1): Show |
4 | HG01891.hp2 NA18943.hp1 NA18961.hp2 others(1): Show |
intron_variant | MODIFIER | c.3946+82_3946+86del others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr1 | 180034157 | ||||||
chr1:180034288 | G | A | 1 | a0009c0009t0008g0010 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3946+206G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034288 | |||||||
chr1:180034335 | C | T | 3 | a0001c0001t0001g0152 a0001c0001t0001g0191 a0001c0001t0001g0192 |
3 | HG02922.hp1 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3946+253C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034335 | |||||||
chr1:180034353 | T | C | 33 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(30): Show |
33 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.3946+271T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034353 | |||||||
chr1:180034373 | C | T | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.3946+291C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034373 | |||||||
chr1:180034376 | A | G | 163 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(160): Show |
164 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.3946+294A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034376 | |||||||
chr1:180034443 | C | T | 2 | a0004c0004t0003g0048 a0004c0004t0003g0051 |
2 | HG02257.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.3946+361C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034443 | |||||||
chr1:180034473 | C | CT | 166 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(163): Show |
167 | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(164): Show |
intron_variant | MODIFIER | c.3946+404dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr1 | 180034473 | ||||||
chr1:180034473 | C | CTT | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.3946+403_3946+404d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr1 | 180034473 | ||||||
chr1:180034514 | G | C | 1 | a0001c0001t0001g0191 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3946+432G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034514 | |||||||
chr1:180034630 | C | T | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.3946+548C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034630 | |||||||
chr1:180034765 | C | T | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3946+683C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034765 | |||||||
chr1:180034933 | G | A | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3946+851G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034933 | |||||||
chr1:180034943 | C | T | 1 | a0004c0004t0003g0056 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.3946+861C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034943 | |||||||
chr1:180035265 | G | A | 1 | a0002c0002t0002g0244 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.3946+1183G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180035265 | |||||||
chr1:180035410 | A | G | 38 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(35): Show |
38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.3946+1328A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180035410 | |||||||
chr1:180035466 | T | C | 2 | a0003c0003t0002g0079 a0003c0003t0002g0080 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.3946+1384T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180035466 | |||||||
chr1:180035707 | G | C | 1 | a0002c0002t0004g0027 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3947-1219G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180035707 | |||||||
chr1:180035790 | A | T | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3947-1136A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180035790 | |||||||
chr1:180035805 | C | T | 1 | a0002c0002t0002g0130 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3947-1121C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180035805 | |||||||
chr1:180036060 | G | T | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3947-866G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180036060 | |||||||
chr1:180036095 | G | A | 1 | a0005c0005t0002g0125 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.3947-831G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180036095 | |||||||
chr1:180036097 | A | G | 1 | a0004c0004t0003g0046 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.3947-829A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180036097 | |||||||
chr1:180036573 | G | A | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3947-353G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180036573 | |||||||
chr1:180036614 | TTTAAA | T | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.3947-306_3947-302d others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr1 | 180036614 | ||||||
chr1:180036670 | T | C | 1 | a0022c0030t0001g0217 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.3947-256T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180036670 | |||||||
chr1:180037408 | A | AG | 3 | a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0011t0001g0148 |
3 | HG02027.hp2 HG02135.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.4110+322dupG | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180037408 | ||||||
chr1:180037411 | G | GT | 13 | a0002c0020t0019g0011 a0003c0003t0002g0091 a0003c0003t0002g0101 others(10): Show |
13 | HG00738.hp2 HG02056.hp1 HG02056.hp2 others(10): Show |
intron_variant | MODIFIER | c.4110+339dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180037411 | ||||||
chr1:180037411 | GT | G | 11 | a0001c0001t0001g0182 a0002c0002t0002g0127 a0002c0002t0004g0036 others(8): Show |
11 | HG01167.hp1 HG01168.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.4110+339delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180037411 | ||||||
chr1:180037412 | T | G | 85 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(82): Show |
85 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(82): Show |
intron_variant | MODIFIER | c.4110+323T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180037412 | |||||||
chr1:180037413 | T | G | 1 | a0001c0001t0001g0182 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.4110+324T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180037413 | |||||||
chr1:180037646 | G | GTTTA | 4 | a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 others(1): Show |
4 | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.4110+573_4110+576d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180037646 | ||||||
chr1:180037666 | T | A | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.4110+577T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180037666 | |||||||
chr1:180037807 | G | A | 1 | a0001c0001t0001g0163 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.4110+718G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180037807 | |||||||
chr1:180037810 | C | T | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4110+721C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180037810 | |||||||
chr1:180038224 | TTTTTG | T | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4110+1150_4110+115 others(9): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180038224 | ||||||
chr1:180038344 | G | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4110+1255G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180038344 | |||||||
chr1:180038369 | G | A | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.4110+1280G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180038369 | |||||||
chr1:180038788 | G | A | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.4110+1699G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180038788 | |||||||
chr1:180039061 | A | G | 1 | a0004c0004t0003g0043 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.4110+1972A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039061 | |||||||
chr1:180039086 | G | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4110+1997G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039086 | |||||||
chr1:180039112 | G | A | 1 | a0008c0029t0010g0012 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4110+2023G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039112 | |||||||
chr1:180039114 | C | T | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.4111-2024C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039114 | |||||||
chr1:180039136 | T | TG | 7 | a0001c0001t0001g0170 a0001c0001t0001g0220 a0002c0002t0005g0122 others(4): Show |
7 | HG01099.hp2 HG02615.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.4111-1996dupG | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180039136 | ||||||
chr1:180039217 | G | A | 1 | a0003c0003t0002g0106 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.4111-1921G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039217 | |||||||
chr1:180039224 | G | C | 3 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0169 |
3 | HG02004.hp1 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.4111-1914G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039224 | |||||||
chr1:180039247 | C | CA | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4111-1881dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180039247 | ||||||
chr1:180039283 | G | A | 1 | a0004c0004t0003g0063 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.4111-1855G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039283 | |||||||
chr1:180039283 | G | GGAGA | 138 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(135): Show |
138 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.4111-1852_4111-185 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180039283 | ||||||
chr1:180039482 | C | A | 30 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.4111-1656C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039482 | |||||||
chr1:180039759 | C | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.4111-1379C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039759 | |||||||
chr1:180039787 | T | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.4111-1351T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039787 | |||||||
chr1:180039789 | T | TCAA | 31 | a0001c0001t0001g0240 a0002c0002t0003g0001 a0002c0002t0003g0044 others(28): Show |
32 | HG01074.hp2 HG01099.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.4111-1333_4111-133 others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180039789 | ||||||
chr1:180039908 | A | G | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4111-1230A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039908 | |||||||
chr1:180040076 | G | A | 2 | a0005c0005t0002g0139 a0005c0005t0002g0140 |
2 | NA18975.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.4111-1062G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040076 | |||||||
chr1:180040144 | C | G | 1 | a0021c0026t0001g0181 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.4111-994C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040144 | |||||||
chr1:180040189 | A | T | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4111-949A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040189 | |||||||
chr1:180040190 | C | G | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4111-948C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040190 | |||||||
chr1:180040191 | A | T | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4111-947A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040191 | |||||||
chr1:180040192 | G | GTC | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4111-946_4111-945i others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040192 | |||||||
chr1:180040474 | G | T | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4111-664G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040474 | |||||||
chr1:180040524 | G | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4111-614G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040524 | |||||||
chr1:180040545 | C | T | 1 | a0001c0001t0001g0164 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.4111-593C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040545 | |||||||
chr1:180040638 | G | GA | 7 | a0002c0016t0003g0045 a0007c0006t0002g0042 a0007c0006t0002g0227 others(4): Show |
7 | HG01074.hp2 HG02615.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.4111-490dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180040638 | ||||||
chr1:180040645 | A | T | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.4111-493A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040645 | |||||||
chr1:180040647 | A | AT | 21 | a0001c0001t0001g0240 a0002c0002t0003g0001 a0002c0002t0003g0044 others(18): Show |
22 | HG01074.hp1 HG01099.hp1 HG01346.hp1 others(19): Show |
intron_variant | MODIFIER | c.4111-491_4111-490i others(3): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040647 | |||||||
chr1:180040647 | A | T | 77 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(74): Show |
78 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(75): Show |
intron_variant | MODIFIER | c.4111-491A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040647 | |||||||
chr1:180040649 | T | A | 1 | a0001c0001t0001g0170 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.4111-489T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040649 | |||||||
chr1:180041020 | T | C | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.4111-118T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180041020 | |||||||
chr1:180041497 | A | G | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4222-165A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 18/37 | chr1 | 180041497 | |||||||
chr1:180041567 | T | C | 160 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(157): Show |
161 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(158): Show |
intron_variant | MODIFIER | c.4222-95T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 18/37 | chr1 | 180041567 | |||||||
chr1:180041648 | C | A | 1 | a0001c0001t0001g0160 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.4222-14C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 18/37 | chr1 | 180041648 | |||||||
chr1:180041944 | A | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.4362+142A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180041944 | |||||||
chr1:180042127 | T | TTC | 7 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0007t0002g0058 others(4): Show |
8 | HG02055.hp1 HG02258.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.4362+330_4362+331d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042127 | ||||||
chr1:180042127 | TTC | T | 3 | a0002c0002t0004g0034 a0002c0002t0020g0035 a0003c0003t0002g0080 |
3 | HG00558.hp2 HG02572.hp2 NA18948.hp2 |
intron_variant | MODIFIER | c.4362+330_4362+331d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042127 | ||||||
chr1:180042130 | T | TCA | 9 | a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0199 others(6): Show |
9 | HG00738.hp1 HG01243.hp2 HG01346.hp2 others(6): Show |
intron_variant | MODIFIER | c.4362+329_4362+330i others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042130 | ||||||
chr1:180042132 | T | A | 25 | a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0199 others(22): Show |
25 | HG00597.hp1 HG00738.hp1 HG01109.hp2 others(22): Show |
intron_variant | MODIFIER | c.4362+330T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042132 | |||||||
chr1:180042132 | T | TCACA | 65 | a0001c0001t0001g0038 a0001c0001t0001g0144 a0001c0001t0001g0145 others(62): Show |
65 | HG00544.hp2 HG00558.hp1 HG00733.hp1 others(62): Show |
intron_variant | MODIFIER | c.4362+363_4362+366d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | ||||||
chr1:180042132 | T | TCACACA | 11 | a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0001g0072 others(8): Show |
11 | HG00597.hp2 HG00639.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.4362+361_4362+366d others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | ||||||
chr1:180042132 | T | TCACACAC others(3): Show |
4 | a0001c0001t0001g0041 a0001c0001t0001g0169 a0001c0001t0001g0191 others(1): Show |
4 | HG02004.hp1 HG02818.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.4362+357_4362+366d others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | ||||||
chr1:180042132 | T | TCACACAC others(7): Show |
2 | a0009c0009t0008g0009 a0009c0009t0008g0010 |
2 | HG02809.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4362+353_4362+366d others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | ||||||
chr1:180042132 | T | TCTCA | 7 | a0002c0016t0003g0045 a0007c0006t0002g0042 a0007c0006t0002g0227 others(4): Show |
7 | HG01074.hp2 HG02615.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.4362+331_4362+332i others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | ||||||
chr1:180042132 | T | TCTCACA | 9 | a0001c0001t0001g0070 a0006c0008t0006g0014 a0006c0008t0006g0015 others(6): Show |
9 | HG00323.hp1 HG00323.hp2 HG01123.hp2 others(6): Show |
intron_variant | MODIFIER | c.4362+331_4362+332i others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | ||||||
chr1:180042132 | T | TCTCACAC others(7): Show |
1 | a0002c0020t0019g0011 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.4362+331_4362+332i others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | ||||||
chr1:180042132 | T | TCTCTCAC others(5): Show |
1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4362+331_4362+332i others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | ||||||
chr1:180042132 | T | TCTCTCAC others(11): Show |
1 | a0008c0029t0010g0012 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4362+331_4362+332i others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | ||||||
chr1:180042132 | TCA | T | 65 | a0002c0002t0002g0127 a0002c0002t0002g0243 a0002c0002t0002g0244 others(62): Show |
66 | HG00544.hp1 HG00639.hp1 HG00733.hp2 others(63): Show |
intron_variant | MODIFIER | c.4362+365_4362+366d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | ||||||
chr1:180042134 | A | T | 16 | a0004c0004t0003g0043 a0004c0004t0003g0046 a0004c0004t0003g0047 others(13): Show |
16 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(13): Show |
intron_variant | MODIFIER | c.4362+332A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042134 | |||||||
chr1:180042136 | A | T | 4 | a0002c0002t0002g0127 a0004c0004t0003g0048 a0004c0004t0003g0051 others(1): Show |
4 | HG02257.hp1 HG02698.hp2 HG03239.hp1 others(1): Show |
intron_variant | MODIFIER | c.4362+334A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042136 | |||||||
chr1:180042168 | A | G | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4362+366A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042168 | |||||||
chr1:180042350 | T | C | 1 | a0001c0001t0001g0038 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.4362+548T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042350 | |||||||
chr1:180042538 | C | G | 1 | a0002c0002t0005g0123 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.4363-518C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042538 | |||||||
chr1:180042555 | A | T | 127 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(124): Show |
127 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(124): Show |
intron_variant | MODIFIER | c.4363-501A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042555 | |||||||
chr1:180042557 | A | G | 71 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(68): Show |
71 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(68): Show |
intron_variant | MODIFIER | c.4363-499A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042557 | |||||||
chr1:180042587 | A | G | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.4363-469A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042587 | |||||||
chr1:180043219 | T | C | 2 | a0003c0003t0002g0079 a0003c0003t0002g0080 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.4499+27T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | chr1 | 180043219 | |||||||
chr1:180043555 | A | G | 5 | a0005c0005t0002g0125 a0005c0005t0002g0138 a0005c0005t0002g0141 others(2): Show |
5 | HG01074.hp1 HG01891.hp1 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.4499+363A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | chr1 | 180043555 | |||||||
chr1:180043708 | A | G | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.4500-343A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | chr1 | 180043708 | |||||||
chr1:180043772 | T | TTG | 33 | a0002c0002t0002g0130 a0002c0002t0003g0001 a0002c0002t0007g0002 others(30): Show |
35 | HG01069.hp1 HG01074.hp2 HG01346.hp1 others(32): Show |
intron_variant | MODIFIER | c.4500-247_4500-246d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr1 | 180043772 | ||||||
chr1:180043772 | T | TTGTG | 7 | a0002c0002t0002g0127 a0002c0002t0003g0044 a0002c0007t0002g0059 others(4): Show |
7 | HG02055.hp1 HG02698.hp2 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.4500-249_4500-246d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr1 | 180043772 | ||||||
chr1:180043772 | TTG | T | 17 | a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 others(14): Show |
17 | HG00558.hp2 HG01109.hp2 HG01168.hp1 others(14): Show |
intron_variant | MODIFIER | c.4500-247_4500-246d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr1 | 180043772 | ||||||
chr1:180043772 | TTGTG | T | 9 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(6): Show |
9 | HG01243.hp1 HG02572.hp1 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.4500-249_4500-246d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr1 | 180043772 | ||||||
chr1:180043772 | TTGTGTG | T | 93 | a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0070 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.4500-251_4500-246d others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr1 | 180043772 | ||||||
chr1:180043772 | TTGTGTGT others(11): Show |
T | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4500-263_4500-246d others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr1 | 180043772 | ||||||
chr1:180043968 | CT | C | 7 | a0002c0002t0005g0122 a0002c0002t0005g0123 a0002c0002t0005g0124 others(4): Show |
7 | HG00639.hp1 HG00733.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.4500-82delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | chr1 | 180043968 | |||||||
chr1:180044004 | G | A | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.4500-47G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | chr1 | 180044004 | |||||||
chr1:180044045 | T | C | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
splice_region_variant&intron_variant | LOW | c.4500-6T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | chr1 | 180044045 | |||||||
chr1:180044398 | T | G | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.4622+225T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044398 | |||||||
chr1:180044471 | G | C | 3 | a0009c0009t0008g0008 a0009c0009t0008g0009 a0009c0009t0008g0010 |
3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.4622+298G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044471 | |||||||
chr1:180044495 | C | T | 1 | a0001c0001t0001g0221 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.4622+322C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044495 | |||||||
chr1:180044593 | C | T | 1 | a0001c0001t0001g0199 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.4622+420C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044593 | |||||||
chr1:180044609 | T | G | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4622+436T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044609 | |||||||
chr1:180044615 | G | A | 1 | a0002c0007t0002g0058 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4622+442G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044615 | |||||||
chr1:180044644 | A | C | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.4622+471A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044644 | |||||||
chr1:180044665 | C | T | 1 | a0001c0001t0001g0165 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.4622+492C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044665 | |||||||
chr1:180044802 | A | G | 1 | a0003c0003t0002g0108 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.4622+629A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044802 | |||||||
chr1:180044841 | A | T | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.4622+668A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044841 | |||||||
chr1:180044849 | A | G | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.4622+676A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044849 | |||||||
chr1:180044896 | G | GA | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.4622+734dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr1 | 180044896 | ||||||
chr1:180045033 | TTTTATTG others(12): Show |
T | 2 | a0004c0004t0003g0048 a0004c0004t0003g0051 |
2 | HG02257.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.4622+863_4622+881d others(21): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr1 | 180045033 | ||||||
chr1:180045053 | T | C | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.4622+880T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045053 | |||||||
chr1:180045126 | G | A | 1 | a0013c0021t0004g0032 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.4622+953G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045126 | |||||||
chr1:180045235 | A | G | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.4622+1062A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045235 | |||||||
chr1:180045323 | C | CA | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.4622+1151dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr1 | 180045323 | ||||||
chr1:180045354 | A | T | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.4622+1181A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045354 | |||||||
chr1:180045599 | T | C | 163 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(160): Show |
164 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.4622+1426T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045599 | |||||||
chr1:180045729 | A | G | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4622+1556A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045729 | |||||||
chr1:180045763 | T | C | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.4622+1590T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045763 | |||||||
chr1:180045953 | C | G | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4622+1780C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045953 | |||||||
chr1:180045965 | T | C | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.4622+1792T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045965 | |||||||
chr1:180046220 | G | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4622+2047G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180046220 | |||||||
chr1:180046377 | T | G | 4 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(1): Show |
4 | HG02723.hp2 HG02922.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.4623-2159T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180046377 | |||||||
chr1:180046717 | A | G | 9 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(6): Show |
9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.4623-1819A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180046717 | |||||||
chr1:180047373 | G | T | 1 | a0001c0001t0001g0183 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4623-1163G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180047373 | |||||||
chr1:180047380 | G | T | 2 | a0001c0001t0001g0183 a0001c0001t0001g0225 |
2 | HG01496.hp1 HG01516.hp2 |
intron_variant | MODIFIER | c.4623-1156G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180047380 | |||||||
chr1:180047389 | A | T | 5 | a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 others(2): Show |
5 | NA18941.hp1 NA18988.hp2 NA18998.hp2 others(2): Show |
intron_variant | MODIFIER | c.4623-1147A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180047389 | |||||||
chr1:180047569 | C | T | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4623-967C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180047569 | |||||||
chr1:180047757 | C | CA | 111 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(108): Show |
111 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(108): Show |
intron_variant | MODIFIER | c.4623-758dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr1 | 180047757 | ||||||
chr1:180047757 | C | CAA | 5 | a0001c0001t0001g0188 a0001c0001t0001g0210 a0001c0001t0001g0232 others(2): Show |
5 | HG02109.hp2 HG03130.hp2 NA18949.hp1 others(2): Show |
intron_variant | MODIFIER | c.4623-759_4623-758d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr1 | 180047757 | ||||||
chr1:180047757 | CAAAAAAA others(2): Show |
C | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4623-766_4623-758d others(11): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr1 | 180047757 | ||||||
chr1:180047844 | A | G | 1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4623-692A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180047844 | |||||||
chr1:180048195 | G | A | 1 | a0002c0002t0016g0246 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4623-341G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180048195 | |||||||
chr1:180048365 | C | T | 1 | a0003c0003t0002g0236 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4623-171C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180048365 | |||||||
chr1:180048924 | G | A | 1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4792+219G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180048924 | |||||||
chr1:180049086 | A | T | 1 | a0002c0002t0007g0068 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4792+381A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049086 | |||||||
chr1:180049119 | C | T | 154 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(151): Show |
156 | HG00323.hp1 HG00544.hp1 HG00558.hp2 others(153): Show |
intron_variant | MODIFIER | c.4792+414C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049119 | |||||||
chr1:180049316 | A | G | 10 | a0003c0003t0002g0091 a0005c0005t0002g0125 a0005c0005t0002g0126 others(7): Show |
10 | HG01074.hp1 HG01891.hp1 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.4792+611A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049316 | |||||||
chr1:180049407 | T | C | 26 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(23): Show |
26 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(23): Show |
intron_variant | MODIFIER | c.4792+702T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049407 | |||||||
chr1:180049519 | A | G | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4792+814A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049519 | |||||||
chr1:180049543 | CT | C | 121 | a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0211 others(118): Show |
122 | HG00323.hp1 HG00544.hp1 HG00639.hp1 others(119): Show |
intron_variant | MODIFIER | c.4792+857delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180049543 | ||||||
chr1:180049543 | CTT | C | 19 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(16): Show |
19 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(16): Show |
intron_variant | MODIFIER | c.4792+856_4792+857d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180049543 | ||||||
chr1:180049864 | A | G | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4792+1159A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049864 | |||||||
chr1:180049890 | C | G | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.4792+1185C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049890 | |||||||
chr1:180050156 | C | T | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4792+1451C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050156 | |||||||
chr1:180050163 | A | G | 3 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 |
3 | HG01256.hp2 HG01258.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.4792+1458A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050163 | |||||||
chr1:180050204 | G | A | 1 | a0002c0002t0002g0243 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4792+1499G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050204 | |||||||
chr1:180050274 | A | G | 1 | a0001c0001t0001g0196 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.4792+1569A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050274 | |||||||
chr1:180050491 | C | T | 6 | a0002c0002t0005g0123 a0002c0002t0005g0124 a0002c0002t0005g0128 others(3): Show |
6 | HG00639.hp1 HG00733.hp2 HG01167.hp2 others(3): Show |
intron_variant | MODIFIER | c.4792+1786C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050491 | |||||||
chr1:180050612 | G | A | 112 | a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0076 others(109): Show |
114 | HG00544.hp1 HG00639.hp1 HG00733.hp2 others(111): Show |
intron_variant | MODIFIER | c.4792+1907G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050612 | |||||||
chr1:180050639 | G | A | 6 | a0001c0001t0001g0150 a0001c0001t0001g0208 a0001c0001t0001g0209 others(3): Show |
6 | HG01496.hp2 NA18955.hp1 NA18956.hp2 others(3): Show |
intron_variant | MODIFIER | c.4792+1934G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050639 | |||||||
chr1:180050673 | C | CA | 35 | a0001c0001t0001g0153 a0001c0001t0001g0170 a0001c0001t0001g0172 others(32): Show |
35 | HG01069.hp2 HG01109.hp1 HG01123.hp1 others(32): Show |
intron_variant | MODIFIER | c.4792+1985dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180050673 | ||||||
chr1:180050673 | CA | C | 20 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(17): Show |
20 | HG00639.hp2 HG01099.hp1 HG01192.hp1 others(17): Show |
intron_variant | MODIFIER | c.4792+1985delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180050673 | ||||||
chr1:180050673 | CAAA | C | 23 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(20): Show |
23 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.4792+1983_4792+198 others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180050673 | ||||||
chr1:180050673 | CAAAA | C | 5 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(2): Show |
5 | HG02723.hp1 HG03453.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.4792+1982_4792+198 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180050673 | ||||||
chr1:180050675 | A | C | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.4792+1970A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050675 | |||||||
chr1:180050676 | A | C | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.4792+1971A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050676 | |||||||
chr1:180050690 | AC | A | 4 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(1): Show |
4 | HG02809.hp2 HG03041.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.4792+1986delC | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050690 | |||||||
chr1:180050691 | C | A | 17 | a0002c0022t0002g0003 a0004c0004t0003g0043 a0004c0004t0003g0046 others(14): Show |
17 | HG01243.hp1 HG01346.hp1 HG01516.hp1 others(14): Show |
intron_variant | MODIFIER | c.4792+1986C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050691 | |||||||
chr1:180050725 | T | G | 1 | a0005c0005t0002g0125 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.4792+2020T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050725 | |||||||
chr1:180050792 | A | G | 150 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(147): Show |
152 | HG00323.hp1 HG00544.hp1 HG00558.hp2 others(149): Show |
intron_variant | MODIFIER | c.4792+2087A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050792 | |||||||
chr1:180051009 | A | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.4793-1961A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051009 | |||||||
chr1:180051484 | A | G | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.4793-1486A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051484 | |||||||
chr1:180051510 | AT | A | 10 | a0003c0003t0002g0091 a0005c0005t0002g0125 a0005c0005t0002g0126 others(7): Show |
10 | HG01074.hp1 HG01891.hp1 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.4793-1459delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051510 | |||||||
chr1:180051638 | T | A | 1 | a0001c0001t0001g0235 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.4793-1332T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051638 | |||||||
chr1:180051915 | C | T | 81 | a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0076 others(78): Show |
82 | HG00544.hp1 HG00639.hp1 HG00733.hp2 others(79): Show |
intron_variant | MODIFIER | c.4793-1055C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051915 | |||||||
chr1:180051916 | G | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4793-1054G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051916 | |||||||
chr1:180051949 | G | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.4793-1021G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051949 | |||||||
chr1:180052033 | C | T | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4793-937C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052033 | |||||||
chr1:180052054 | A | G | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.4793-916A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052054 | |||||||
chr1:180052093 | G | A | 1 | a0004c0004t0003g0053 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.4793-877G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052093 | |||||||
chr1:180052209 | CT | C | 4 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 others(1): Show |
4 | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.4793-758delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180052209 | ||||||
chr1:180052345 | T | C | 1 | a0001c0001t0001g0169 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.4793-625T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052345 | |||||||
chr1:180052470 | A | G | 1 | a0002c0002t0020g0035 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.4793-500A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052470 | |||||||
chr1:180052540 | A | G | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4793-430A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052540 | |||||||
chr1:180052599 | TTTGA | T | 24 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0007t0002g0058 others(21): Show |
25 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(22): Show |
intron_variant | MODIFIER | c.4793-365_4793-362d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180052599 | ||||||
chr1:180052613 | A | T | 1 | a0004c0004t0003g0053 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.4793-357A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052613 | |||||||
chr1:180053172 | T | C | 1 | a0003c0003t0002g0105 | 1 | NA20752.hp2 | splice_region_variant&intron_variant | LOW | c.4989+6T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053172 | |||||||
chr1:180053208 | T | G | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.4989+42T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053208 | |||||||
chr1:180053224 | T | C | 1 | a0024c0023t0002g0007 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4989+58T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053224 | |||||||
chr1:180053432 | A | G | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.4989+266A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053432 | |||||||
chr1:180053529 | A | G | 1 | a0008c0029t0010g0012 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4990-221A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053529 | |||||||
chr1:180053678 | A | G | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4990-72A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053678 | |||||||
chr1:180053718 | A | T | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.4990-32A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053718 | |||||||
chr1:180054069 | ATACT | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5174+137_5174+140d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr1 | 180054069 | ||||||
chr1:180054672 | A | T | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5262+170A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180054672 | |||||||
chr1:180055147 | C | G | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.5262+645C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055147 | |||||||
chr1:180055289 | A | G | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.5262+787A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055289 | |||||||
chr1:180055383 | C | G | 1 | a0003c0003t0002g0106 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.5262+881C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055383 | |||||||
chr1:180055546 | C | CT | 99 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(96): Show |
99 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(96): Show |
intron_variant | MODIFIER | c.5262+1068dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180055546 | ||||||
chr1:180055546 | C | CTT | 9 | a0001c0001t0001g0145 a0001c0001t0001g0164 a0001c0001t0001g0172 others(6): Show |
9 | HG01256.hp2 HG01258.hp2 HG01346.hp1 others(6): Show |
intron_variant | MODIFIER | c.5262+1067_5262+106 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180055546 | ||||||
chr1:180055546 | CTT | C | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5262+1067_5262+106 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180055546 | ||||||
chr1:180055612 | G | A | 2 | a0002c0002t0004g0036 a0002c0002t0004g0037 |
2 | HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.5262+1110G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055612 | |||||||
chr1:180055797 | C | T | 30 | a0001c0001t0001g0240 a0002c0002t0003g0001 a0002c0002t0003g0044 others(27): Show |
31 | HG01074.hp2 HG01099.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.5262+1295C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055797 | |||||||
chr1:180055922 | T | C | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5262+1420T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055922 | |||||||
chr1:180055997 | T | A | 1 | a0003c0003t0002g0111 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.5262+1495T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055997 | |||||||
chr1:180056318 | C | T | 9 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(6): Show |
9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.5262+1816C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056318 | |||||||
chr1:180056355 | C | T | 1 | a0004c0004t0003g0048 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.5262+1853C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056355 | |||||||
chr1:180056404 | A | G | 3 | a0002c0002t0004g0033 a0002c0002t0004g0036 a0002c0002t0004g0037 |
3 | HG00738.hp1 HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.5262+1902A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056404 | |||||||
chr1:180056465 | T | TC | 68 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0071 others(65): Show |
69 | HG00597.hp2 HG01069.hp1 HG01109.hp1 others(66): Show |
intron_variant | MODIFIER | c.5262+1974dupC | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180056465 | ||||||
chr1:180056465 | T | TCC | 36 | a0001c0001t0001g0041 a0001c0001t0001g0201 a0001c0001t0001g0213 others(33): Show |
36 | HG00544.hp1 HG01261.hp1 HG01346.hp1 others(33): Show |
intron_variant | MODIFIER | c.5262+1973_5262+197 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180056465 | ||||||
chr1:180056465 | TC | T | 39 | a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0203 others(36): Show |
39 | HG00558.hp2 HG00597.hp1 HG00639.hp1 others(36): Show |
intron_variant | MODIFIER | c.5262+1974delC | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180056465 | ||||||
chr1:180056477 | T | C | 2 | a0002c0002t0015g0020 a0005c0005t0002g0125 |
2 | HG01074.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.5262+1975T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056477 | |||||||
chr1:180056601 | C | A | 1 | a0002c0020t0019g0011 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.5262+2099C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056601 | |||||||
chr1:180056632 | G | C | 1 | a0018c0032t0002g0129 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5262+2130G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056632 | |||||||
chr1:180056692 | A | G | 1 | a0002c0002t0020g0035 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.5262+2190A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056692 | |||||||
chr1:180056707 | C | G | 10 | a0003c0003t0002g0091 a0005c0005t0002g0125 a0005c0005t0002g0126 others(7): Show |
10 | HG01074.hp1 HG01891.hp1 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.5262+2205C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056707 | |||||||
chr1:180057017 | G | T | 163 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(160): Show |
164 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.5262+2515G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057017 | |||||||
chr1:180057080 | C | G | 3 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 |
3 | HG01256.hp2 HG01258.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.5262+2578C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057080 | |||||||
chr1:180057099 | C | CT | 7 | a0002c0002t0007g0002 a0002c0002t0007g0064 a0002c0002t0007g0067 others(4): Show |
8 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.5262+2612dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180057099 | ||||||
chr1:180057243 | C | T | 6 | a0001c0001t0001g0150 a0001c0001t0001g0208 a0001c0001t0001g0209 others(3): Show |
6 | HG01496.hp2 NA18955.hp1 NA18956.hp2 others(3): Show |
intron_variant | MODIFIER | c.5262+2741C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057243 | |||||||
chr1:180057256 | A | G | 1 | a0011c0012t0009g0065 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.5262+2754A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057256 | |||||||
chr1:180057422 | T | A | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.5262+2920T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057422 | |||||||
chr1:180057516 | CT | C | 20 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(17): Show |
20 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(17): Show |
intron_variant | MODIFIER | c.5262+3027delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180057516 | ||||||
chr1:180057627 | G | T | 1 | a0001c0011t0001g0148 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.5262+3125G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057627 | |||||||
chr1:180057653 | CT | C | 10 | a0003c0003t0002g0091 a0005c0005t0002g0125 a0005c0005t0002g0126 others(7): Show |
10 | HG01074.hp1 HG01891.hp1 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.5262+3154delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180057653 | ||||||
chr1:180057833 | C | T | 4 | a0004c0004t0003g0047 a0004c0004t0003g0052 a0004c0004t0003g0054 others(1): Show |
4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.5262+3331C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057833 | |||||||
chr1:180057924 | C | T | 2 | a0002c0002t0003g0001 a0002c0002t0003g0044 |
3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.5262+3422C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057924 | |||||||
chr1:180058028 | C | G | 1 | a0001c0001t0001g0173 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.5262+3526C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180058028 | |||||||
chr1:180058094 | T | C | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.5262+3592T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180058094 | |||||||
chr1:180058148 | T | G | 177 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(174): Show |
178 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(175): Show |
intron_variant | MODIFIER | c.5262+3646T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180058148 | |||||||
chr1:180058314 | A | G | 1 | a0019c0025t0013g0176 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.5262+3812A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180058314 | |||||||
chr1:180058490 | T | C | 98 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(95): Show |
98 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(95): Show |
intron_variant | MODIFIER | c.5263-3730T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180058490 | |||||||
chr1:180059015 | C | T | 173 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(170): Show |
174 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(171): Show |
intron_variant | MODIFIER | c.5263-3205C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180059015 | |||||||
chr1:180059041 | G | A | 173 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(170): Show |
174 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(171): Show |
intron_variant | MODIFIER | c.5263-3179G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180059041 | |||||||
chr1:180059536 | C | T | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5263-2684C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180059536 | |||||||
chr1:180059546 | A | G | 1 | a0001c0001t0001g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.5263-2674A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180059546 | |||||||
chr1:180059606 | A | G | 163 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(160): Show |
164 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.5263-2614A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180059606 | |||||||
chr1:180059980 | TA | T | 30 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.5263-2230delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180059980 | ||||||
chr1:180060049 | T | C | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5263-2171T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060049 | |||||||
chr1:180060086 | A | G | 1 | a0005c0005t0002g0143 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.5263-2134A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060086 | |||||||
chr1:180060155 | G | A | 1 | a0004c0004t0003g0046 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.5263-2065G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060155 | |||||||
chr1:180060317 | GT | G | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.5263-1900delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180060317 | ||||||
chr1:180060341 | G | C | 30 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.5263-1879G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060341 | |||||||
chr1:180060376 | C | T | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5263-1844C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060376 | |||||||
chr1:180060460 | A | G | 3 | a0003c0003t0002g0091 a0005c0005t0002g0139 a0005c0005t0002g0140 |
3 | HG02056.hp1 NA18975.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.5263-1760A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060460 | |||||||
chr1:180060516 | G | A | 30 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.5263-1704G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060516 | |||||||
chr1:180060756 | A | T | 3 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0169 |
3 | HG02004.hp1 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.5263-1464A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060756 | |||||||
chr1:180060821 | T | C | 1 | a0018c0032t0002g0129 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5263-1399T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060821 | |||||||
chr1:180061186 | C | CATTG | 105 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(102): Show |
105 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(102): Show |
intron_variant | MODIFIER | c.5263-1008_5263-100 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180061186 | ||||||
chr1:180061186 | CATTGATT others(5): Show |
C | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5263-1016_5263-100 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180061186 | ||||||
chr1:180061353 | C | T | 1 | a0003c0003t0002g0108 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.5263-867C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061353 | |||||||
chr1:180061397 | A | G | 138 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(135): Show |
138 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.5263-823A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061397 | |||||||
chr1:180061415 | A | C | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.5263-805A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061415 | |||||||
chr1:180061483 | C | A | 3 | a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0180 |
3 | HG02015.hp2 HG02040.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.5263-737C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061483 | |||||||
chr1:180061506 | T | G | 5 | a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 others(2): Show |
5 | NA18941.hp1 NA18988.hp2 NA18998.hp2 others(2): Show |
intron_variant | MODIFIER | c.5263-714T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061506 | |||||||
chr1:180061670 | G | A | 3 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0016t0003g0045 |
4 | HG02055.hp1 HG02451.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.5263-550G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061670 | |||||||
chr1:180061802 | G | C | 14 | a0003c0003t0002g0082 a0003c0003t0002g0089 a0003c0003t0002g0090 others(11): Show |
14 | HG00544.hp1 HG02056.hp2 HG02135.hp2 others(11): Show |
intron_variant | MODIFIER | c.5263-418G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061802 | |||||||
chr1:180061845 | C | T | 2 | a0008c0015t0002g0131 a0008c0015t0002g0132 |
2 | HG02622.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.5263-375C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061845 | |||||||
chr1:180061854 | T | C | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.5263-366T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061854 | |||||||
chr1:180061923 | G | A | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5263-297G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061923 | |||||||
chr1:180062046 | T | G | 32 | a0001c0001t0001g0191 a0001c0001t0001g0240 a0002c0002t0003g0001 others(29): Show |
33 | HG01074.hp2 HG01099.hp1 HG01346.hp1 others(30): Show |
intron_variant | MODIFIER | c.5263-174T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180062046 | |||||||
chr1:180062496 | G | A | 1 | a0005c0005t0002g0141 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.5409+130G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180062496 | |||||||
chr1:180062650 | G | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5409+284G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180062650 | |||||||
chr1:180062722 | C | A | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.5409+356C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180062722 | |||||||
chr1:180062724 | C | T | 1 | a0003c0003t0002g0090 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.5409+358C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180062724 | |||||||
chr1:180062801 | A | G | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5409+435A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180062801 | |||||||
chr1:180063058 | C | T | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5409+692C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063058 | |||||||
chr1:180063095 | T | C | 8 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0007c0006t0002g0042 others(5): Show |
9 | HG01074.hp2 HG02055.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.5409+729T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063095 | |||||||
chr1:180063138 | G | A | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5409+772G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063138 | |||||||
chr1:180063174 | C | A | 1 | a0001c0033t0001g0174 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.5409+808C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063174 | |||||||
chr1:180063186 | C | CT | 101 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(98): Show |
101 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(98): Show |
intron_variant | MODIFIER | c.5409+841dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr1 | 180063186 | ||||||
chr1:180063186 | C | CTT | 18 | a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0179 others(15): Show |
18 | HG01496.hp2 HG01891.hp2 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.5409+840_5409+841d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr1 | 180063186 | ||||||
chr1:180063186 | CT | C | 38 | a0001c0001t0001g0240 a0002c0002t0003g0001 a0002c0002t0003g0044 others(35): Show |
39 | HG00733.hp2 HG01074.hp1 HG01074.hp2 others(36): Show |
intron_variant | MODIFIER | c.5409+841delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr1 | 180063186 | ||||||
chr1:180063186 | CTT | C | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5409+840_5409+841d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr1 | 180063186 | ||||||
chr1:180063215 | C | T | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.5409+849C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063215 | |||||||
chr1:180063316 | C | T | 1 | a0002c0002t0004g0031 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.5409+950C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063316 | |||||||
chr1:180063374 | A | T | 1 | a0017c0024t0001g0154 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.5409+1008A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063374 | |||||||
chr1:180063538 | C | T | 1 | a0022c0030t0001g0217 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.5409+1172C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063538 | |||||||
chr1:180063782 | C | T | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.5410-1333C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063782 | |||||||
chr1:180063812 | C | CA | 122 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(119): Show |
122 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(119): Show |
intron_variant | MODIFIER | c.5410-1294dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr1 | 180063812 | ||||||
chr1:180064016 | C | T | 1 | a0002c0002t0005g0133 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.5410-1099C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180064016 | |||||||
chr1:180064203 | A | G | 1 | a0005c0005t0002g0143 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.5410-912A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180064203 | |||||||
chr1:180064216 | G | A | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5410-899G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180064216 | |||||||
chr1:180064309 | C | T | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.5410-806C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180064309 | |||||||
chr1:180064384 | A | G | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5410-731A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180064384 | |||||||
chr1:180064902 | C | A | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.5410-213C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180064902 | |||||||
chr1:180065013 | A | G | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.5410-102A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180065013 | |||||||
chr1:180065087 | A | G | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.5410-28A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180065087 | |||||||
chr1:180065106 | T | G | 1 | a0001c0001t0001g0146 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.5410-9T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180065106 | |||||||
chr1:180065296 | CTT | C | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5567+25_5567+26del others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065296 | |||||||
chr1:180065400 | A | G | 4 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 others(1): Show |
4 | HG01891.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.5567+128A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065400 | |||||||
chr1:180065467 | G | A | 130 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(127): Show |
130 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(127): Show |
intron_variant | MODIFIER | c.5567+195G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065467 | |||||||
chr1:180065746 | A | G | 1 | a0006c0008t0011g0017 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5567+474A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065746 | |||||||
chr1:180065762 | C | A | 3 | a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0216 |
3 | HG01928.hp1 NA18953.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.5567+490C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065762 | |||||||
chr1:180065763 | A | C | 3 | a0001c0001t0001g0038 a0002c0002t0007g0002 a0002c0002t0015g0020 |
4 | HG01069.hp1 HG01192.hp1 HG02258.hp2 others(1): Show |
intron_variant | MODIFIER | c.5567+491A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065763 | |||||||
chr1:180065764 | A | G | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5567+492A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065764 | |||||||
chr1:180065870 | A | G | 1 | a0001c0001t0017g0207 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.5567+598A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065870 | |||||||
chr1:180066228 | G | A | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.5567+956G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066228 | |||||||
chr1:180066228 | G | C | 1 | a0003c0003t0002g0108 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.5567+956G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066228 | |||||||
chr1:180066288 | A | C | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.5567+1016A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066288 | |||||||
chr1:180066561 | C | A | 240 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(237): Show |
242 | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(239): Show |
intron_variant | MODIFIER | c.5567+1289C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066561 | |||||||
chr1:180066611 | G | A | 30 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.5567+1339G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066611 | |||||||
chr1:180066672 | G | A | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.5567+1400G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066672 | |||||||
chr1:180066944 | T | A | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5567+1672T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066944 | |||||||
chr1:180067522 | T | G | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5567+2250T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180067522 | |||||||
chr1:180067619 | G | T | 8 | a0002c0002t0004g0021 a0002c0002t0004g0031 a0002c0002t0004g0033 others(5): Show |
8 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.5567+2347G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180067619 | |||||||
chr1:180068052 | T | G | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.5567+2780T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068052 | |||||||
chr1:180068078 | T | G | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.5567+2806T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068078 | |||||||
chr1:180068080 | G | A | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.5567+2808G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068080 | |||||||
chr1:180068191 | C | A | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.5567+2919C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068191 | |||||||
chr1:180068442 | A | C | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5567+3170A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068442 | |||||||
chr1:180068852 | A | G | 128 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(125): Show |
128 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(125): Show |
intron_variant | MODIFIER | c.5567+3580A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068852 | |||||||
chr1:180068853 | C | T | 17 | a0001c0001t0001g0240 a0004c0004t0003g0043 a0004c0004t0003g0046 others(14): Show |
17 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(14): Show |
intron_variant | MODIFIER | c.5567+3581C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068853 | |||||||
chr1:180068871 | T | C | 1 | a0004c0004t0003g0053 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.5567+3599T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068871 | |||||||
chr1:180069333 | T | C | 8 | a0002c0002t0004g0021 a0002c0002t0004g0031 a0002c0002t0004g0033 others(5): Show |
8 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.5567+4061T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069333 | |||||||
chr1:180069359 | C | T | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5567+4087C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069359 | |||||||
chr1:180069408 | T | G | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5567+4136T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069408 | |||||||
chr1:180069430 | T | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5567+4158T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069430 | |||||||
chr1:180069488 | A | C | 1 | a0001c0001t0001g0071 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.5567+4216A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069488 | |||||||
chr1:180069580 | G | A | 1 | a0002c0002t0004g0021 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.5567+4308G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069580 | |||||||
chr1:180069703 | A | G | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5567+4431A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069703 | |||||||
chr1:180069783 | A | T | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.5567+4511A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069783 | |||||||
chr1:180070002 | C | T | 92 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(89): Show |
92 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(89): Show |
intron_variant | MODIFIER | c.5567+4730C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070002 | |||||||
chr1:180070411 | T | C | 1 | a0001c0001t0001g0210 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.5568-4611T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070411 | |||||||
chr1:180070478 | A | G | 1 | a0006c0008t0006g0019 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.5568-4544A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070478 | |||||||
chr1:180070556 | A | T | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.5568-4466A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070556 | |||||||
chr1:180070562 | G | C | 1 | a0006c0008t0011g0017 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5568-4460G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070562 | |||||||
chr1:180070625 | C | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5568-4397C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070625 | |||||||
chr1:180070719 | G | C | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.5568-4303G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070719 | |||||||
chr1:180070816 | G | A | 1 | a0001c0001t0001g0145 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.5568-4206G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070816 | |||||||
chr1:180070981 | C | G | 1 | a0001c0011t0001g0148 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.5568-4041C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070981 | |||||||
chr1:180071018 | C | T | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5568-4004C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071018 | |||||||
chr1:180071025 | G | C | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5568-3997G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071025 | |||||||
chr1:180071111 | A | T | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5568-3911A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071111 | |||||||
chr1:180071146 | C | CA | 32 | a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0072 others(29): Show |
33 | HG00323.hp2 HG00639.hp1 HG00733.hp2 others(30): Show |
intron_variant | MODIFIER | c.5568-3855dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180071146 | ||||||
chr1:180071146 | CA | C | 23 | a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0182 others(20): Show |
23 | HG01069.hp2 HG01167.hp1 HG01168.hp2 others(20): Show |
intron_variant | MODIFIER | c.5568-3855delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180071146 | ||||||
chr1:180071274 | A | G | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.5568-3748A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071274 | |||||||
chr1:180071316 | G | T | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5568-3706G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071316 | |||||||
chr1:180071331 | C | T | 1 | a0001c0001t0001g0160 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.5568-3691C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071331 | |||||||
chr1:180071459 | C | CA | 20 | a0001c0001t0001g0198 a0001c0001t0001g0203 a0002c0002t0004g0021 others(17): Show |
20 | HG00597.hp1 HG00738.hp1 HG01109.hp2 others(17): Show |
intron_variant | MODIFIER | c.5568-3544dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180071459 | ||||||
chr1:180071459 | CA | C | 14 | a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0164 others(11): Show |
14 | HG00558.hp1 HG01074.hp1 HG02723.hp1 others(11): Show |
intron_variant | MODIFIER | c.5568-3544delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180071459 | ||||||
chr1:180071477 | A | T | 4 | a0003c0003t0001g0092 a0003c0003t0002g0078 a0003c0003t0002g0103 others(1): Show |
4 | HG04228.hp2 NA18949.hp2 NA18978.hp2 others(1): Show |
intron_variant | MODIFIER | c.5568-3545A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071477 | |||||||
chr1:180071498 | T | C | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5568-3524T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071498 | |||||||
chr1:180071628 | C | CAAAAATT others(6068): Show |
1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5568-3380_5568-337 others(6079): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180071628 | ||||||
chr1:180071645 | T | C | 26 | a0001c0001t0001g0240 a0002c0002t0003g0001 a0002c0002t0003g0044 others(23): Show |
27 | HG01074.hp2 HG01099.hp1 HG01346.hp1 others(24): Show |
intron_variant | MODIFIER | c.5568-3377T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071645 | |||||||
chr1:180071781 | C | CA | 122 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(119): Show |
122 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(119): Show |
intron_variant | MODIFIER | c.5568-3231dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180071781 | ||||||
chr1:180071813 | A | G | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5568-3209A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071813 | |||||||
chr1:180071912 | G | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5568-3110G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071912 | |||||||
chr1:180072012 | A | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.5568-3010A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072012 | |||||||
chr1:180072097 | A | G | 131 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(128): Show |
131 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(128): Show |
intron_variant | MODIFIER | c.5568-2925A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072097 | |||||||
chr1:180072152 | A | T | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.5568-2870A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072152 | |||||||
chr1:180072288 | G | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5568-2734G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072288 | |||||||
chr1:180072312 | G | A | 1 | a0001c0011t0001g0148 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.5568-2710G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072312 | |||||||
chr1:180072530 | G | A | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5568-2492G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072530 | |||||||
chr1:180072659 | T | C | 1 | a0002c0002t0005g0128 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.5568-2363T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072659 | |||||||
chr1:180072683 | G | A | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5568-2339G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072683 | |||||||
chr1:180072816 | A | G | 2 | a0002c0002t0004g0022 a0002c0002t0004g0023 |
2 | HG02647.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.5568-2206A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072816 | |||||||
chr1:180072967 | C | CA | 10 | a0003c0003t0002g0091 a0005c0005t0002g0125 a0005c0005t0002g0126 others(7): Show |
10 | HG01074.hp1 HG01891.hp1 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.5568-2054dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180072967 | ||||||
chr1:180073116 | A | T | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.5568-1906A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180073116 | |||||||
chr1:180073157 | G | A | 1 | a0001c0001t0001g0218 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.5568-1865G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180073157 | |||||||
chr1:180073159 | A | G | 44 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(41): Show |
44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.5568-1863A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180073159 | |||||||
chr1:180073253 | T | C | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.5568-1769T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180073253 | |||||||
chr1:180073806 | A | G | 3 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0169 |
3 | HG02004.hp1 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.5568-1216A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180073806 | |||||||
chr1:180074372 | A | G | 93 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(90): Show |
93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.5568-650A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180074372 | |||||||
chr1:180074399 | C | T | 1 | a0001c0001t0001g0071 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.5568-623C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180074399 | |||||||
chr1:180074404 | G | A | 130 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(127): Show |
130 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(127): Show |
intron_variant | MODIFIER | c.5568-618G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180074404 | |||||||
chr1:180074676 | CATCTTCT others(13): Show |
C | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5568-343_5568-324d others(22): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180074676 | ||||||
chr1:180074707 | A | T | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5568-315A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180074707 | |||||||
chr1:180074788 | T | C | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.5568-234T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180074788 | |||||||
chr1:180074849 | A | G | 1 | a0002c0002t0004g0024 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.5568-173A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180074849 | |||||||
chr1:180075340 | A | G | 1 | a0006c0008t0006g0019 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.5767+119A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180075340 | |||||||
chr1:180075435 | A | AAC | 98 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(95): Show |
98 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(95): Show |
intron_variant | MODIFIER | c.5767+215_5767+216i others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180075435 | ||||||
chr1:180075449 | G | A | 1 | a0002c0002t0016g0246 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.5767+228G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180075449 | |||||||
chr1:180075474 | T | G | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5767+253T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180075474 | |||||||
chr1:180075626 | G | T | 1 | a0001c0001t0001g0038 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.5767+405G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180075626 | |||||||
chr1:180075948 | C | T | 1 | a0001c0001t0001g0191 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.5767+727C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180075948 | |||||||
chr1:180075958 | G | GGAAAAAA others(24): Show |
1 | a0001c0001t0001g0164 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.5767+738_5767+768d others(33): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180075958 | ||||||
chr1:180075959 | GA | G | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5767+749delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180075959 | ||||||
chr1:180076113 | G | C | 1 | a0001c0001t0001g0149 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.5767+892G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076113 | |||||||
chr1:180076217 | A | C | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.5767+996A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076217 | |||||||
chr1:180076341 | A | G | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5767+1120A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076341 | |||||||
chr1:180076356 | T | A | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.5767+1135T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076356 | |||||||
chr1:180076381 | C | T | 2 | a0001c0001t0001g0163 a0001c0001t0018g0175 |
2 | HG03669.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.5767+1160C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076381 | |||||||
chr1:180076412 | A | G | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.5767+1191A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076412 | |||||||
chr1:180076512 | T | C | 1 | a0001c0001t0001g0166 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.5767+1291T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076512 | |||||||
chr1:180076558 | G | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5767+1337G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076558 | |||||||
chr1:180076605 | A | G | 1 | a0004c0004t0003g0056 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.5767+1384A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076605 | |||||||
chr1:180076606 | T | G | 1 | a0001c0001t0001g0199 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.5767+1385T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076606 | |||||||
chr1:180076617 | C | T | 1 | a0003c0003t0002g0084 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.5767+1396C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076617 | |||||||
chr1:180076662 | A | T | 1 | a0001c0001t0001g0199 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.5767+1441A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076662 | |||||||
chr1:180076867 | A | G | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5768-1596A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076867 | |||||||
chr1:180076935 | A | G | 2 | a0001c0001t0001g0184 a0001c0001t0001g0216 |
2 | HG01928.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.5768-1528A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076935 | |||||||
chr1:180077016 | G | T | 1 | a0001c0001t0018g0175 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.5768-1447G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077016 | |||||||
chr1:180077052 | T | C | 1 | a0001c0001t0001g0070 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.5768-1411T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077052 | |||||||
chr1:180077102 | A | C | 2 | a0008c0015t0002g0131 a0008c0015t0002g0132 |
2 | HG02622.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.5768-1361A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077102 | |||||||
chr1:180077379 | T | TAAAG | 138 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(135): Show |
138 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.5768-1081_5768-108 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180077379 | ||||||
chr1:180077447 | A | G | 1 | a0003c0003t0002g0112 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.5768-1016A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077447 | |||||||
chr1:180077535 | C | T | 24 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0007t0002g0058 others(21): Show |
25 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(22): Show |
intron_variant | MODIFIER | c.5768-928C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077535 | |||||||
chr1:180077671 | T | TA | 7 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(4): Show |
7 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.5768-772dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180077671 | ||||||
chr1:180077671 | T | TAA | 6 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(3): Show |
6 | HG00558.hp2 HG01168.hp1 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.5768-773_5768-772d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180077671 | ||||||
chr1:180077671 | T | TAAA | 92 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 others(89): Show |
92 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(89): Show |
intron_variant | MODIFIER | c.5768-774_5768-772d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180077671 | ||||||
chr1:180077671 | T | TAAAA | 18 | a0001c0001t0001g0071 a0001c0001t0001g0146 a0001c0001t0001g0147 others(15): Show |
18 | HG01175.hp2 HG01243.hp2 HG01496.hp1 others(15): Show |
intron_variant | MODIFIER | c.5768-775_5768-772d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180077671 | ||||||
chr1:180077776 | A | G | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.5768-687A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077776 | |||||||
chr1:180077877 | T | G | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.5768-586T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077877 | |||||||
chr1:180078064 | C | G | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.5768-399C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180078064 | |||||||
chr1:180078682 | A | C | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
splice_region_variant&intron_variant | LOW | c.5979+8A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | chr1 | 180078682 | |||||||
chr1:180079179 | GA | G | 87 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(84): Show |
87 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(84): Show |
intron_variant | MODIFIER | c.5979+514delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr1 | 180079179 | ||||||
chr1:180079223 | C | CT | 96 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(93): Show |
96 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(93): Show |
intron_variant | MODIFIER | c.5979+560dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr1 | 180079223 | ||||||
chr1:180079523 | A | T | 15 | a0003c0003t0002g0082 a0003c0003t0002g0089 a0003c0003t0002g0090 others(12): Show |
15 | HG00544.hp1 HG02056.hp2 HG02135.hp2 others(12): Show |
intron_variant | MODIFIER | c.5979+849A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | chr1 | 180079523 | |||||||
chr1:180079877 | A | T | 129 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(126): Show |
129 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(126): Show |
intron_variant | MODIFIER | c.5980-640A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | chr1 | 180079877 | |||||||
chr1:180079974 | A | G | 123 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(120): Show |
123 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(120): Show |
intron_variant | MODIFIER | c.5980-543A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | chr1 | 180079974 | |||||||
chr1:180080460 | A | G | 1 | a0007c0006t0002g0231 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.5980-57A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | chr1 | 180080460 | |||||||
chr1:180080705 | C | T | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.6124+44C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180080705 | |||||||
chr1:180080804 | ACCATATT others(8): Show |
A | 5 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(2): Show |
5 | HG00323.hp1 HG01123.hp2 HG01256.hp2 others(2): Show |
intron_variant | MODIFIER | c.6124+157_6124+171d others(17): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr1 | 180080804 | ||||||
chr1:180080887 | T | G | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.6124+226T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180080887 | |||||||
chr1:180080923 | G | A | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.6124+262G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180080923 | |||||||
chr1:180080929 | G | A | 1 | a0008c0029t0010g0012 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.6124+268G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180080929 | |||||||
chr1:180080984 | C | T | 4 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(1): Show |
4 | HG01192.hp1 HG02004.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.6124+323C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180080984 | |||||||
chr1:180081017 | G | A | 16 | a0004c0004t0003g0043 a0004c0004t0003g0046 a0004c0004t0003g0047 others(13): Show |
16 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(13): Show |
intron_variant | MODIFIER | c.6124+356G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081017 | |||||||
chr1:180081034 | A | AT | 12 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(9): Show |
12 | HG00323.hp1 HG00738.hp2 HG01074.hp2 others(9): Show |
intron_variant | MODIFIER | c.6124+386dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr1 | 180081034 | ||||||
chr1:180081416 | C | G | 5 | a0004c0004t0003g0046 a0004c0004t0003g0049 a0004c0004t0003g0050 others(2): Show |
5 | HG01346.hp1 HG02486.hp2 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.6124+755C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081416 | |||||||
chr1:180081442 | T | G | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.6124+781T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081442 | |||||||
chr1:180081455 | A | T | 19 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0016t0003g0045 others(16): Show |
20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.6124+794A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081455 | |||||||
chr1:180081470 | A | G | 1 | a0003c0003t0002g0118 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.6124+809A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081470 | |||||||
chr1:180081714 | C | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.6124+1053C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081714 | |||||||
chr1:180081844 | C | A | 4 | a0003c0003t0002g0097 a0003c0003t0002g0099 a0003c0003t0002g0112 others(1): Show |
4 | HG00544.hp1 HG02165.hp1 NA18947.hp1 others(1): Show |
intron_variant | MODIFIER | c.6124+1183C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081844 | |||||||
chr1:180081973 | G | A | 3 | a0005c0005t0002g0141 a0005c0005t0002g0142 a0005c0005t0002g0143 |
3 | HG03669.hp1 HG03834.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.6124+1312G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081973 | |||||||
chr1:180082130 | A | T | 2 | a0002c0007t0002g0059 a0002c0007t0002g0060 |
2 | HG03130.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.6124+1469A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082130 | |||||||
chr1:180082236 | T | C | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.6124+1575T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082236 | |||||||
chr1:180082341 | G | C | 1 | a0004c0004t0003g0053 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.6125-1677G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082341 | |||||||
chr1:180082502 | A | G | 1 | a0023c0028t0010g0013 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6125-1516A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082502 | |||||||
chr1:180082592 | G | T | 2 | a0004c0004t0003g0048 a0004c0004t0003g0051 |
2 | HG02257.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.6125-1426G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082592 | |||||||
chr1:180082611 | G | A | 1 | a0001c0001t0001g0149 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.6125-1407G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082611 | |||||||
chr1:180082699 | A | G | 1 | a0001c0001t0001g0145 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.6125-1319A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082699 | |||||||
chr1:180082882 | A | G | 123 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(120): Show |
123 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(120): Show |
intron_variant | MODIFIER | c.6125-1136A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082882 | |||||||
chr1:180083529 | CAG | C | 13 | a0002c0002t0005g0122 a0002c0002t0005g0123 a0002c0002t0005g0124 others(10): Show |
14 | HG00639.hp1 HG00733.hp2 HG01069.hp1 others(11): Show |
intron_variant | MODIFIER | c.6125-488_6125-487d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180083529 | |||||||
chr1:180083717 | T | C | 1 | a0001c0001t0001g0178 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.6125-301T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180083717 | |||||||
chr1:180083737 | C | T | 4 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(1): Show |
4 | HG01192.hp1 HG02004.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.6125-281C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180083737 | |||||||
chr1:180083829 | G | A | 1 | a0003c0003t0002g0236 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.6125-189G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180083829 | |||||||
chr1:180084396 | G | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.6285+218G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084396 | |||||||
chr1:180084410 | G | A | 2 | a0011c0012t0009g0065 a0011c0012t0009g0066 |
2 | HG03041.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.6285+232G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084410 | |||||||
chr1:180084425 | C | T | 1 | a0001c0001t0001g0038 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.6285+247C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084425 | |||||||
chr1:180084442 | G | A | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.6285+264G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084442 | |||||||
chr1:180084446 | G | T | 1 | a0004c0004t0003g0056 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.6285+268G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084446 | |||||||
chr1:180084513 | C | T | 8 | a0001c0001t0001g0152 a0001c0001t0001g0192 a0002c0020t0019g0011 others(5): Show |
8 | HG02723.hp1 HG02809.hp1 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.6285+335C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084513 | |||||||
chr1:180084522 | G | A | 1 | a0006c0008t0006g0019 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.6285+344G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084522 | |||||||
chr1:180084779 | G | A | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.6285+601G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084779 | |||||||
chr1:180085280 | T | C | 1 | a0001c0001t0001g0072 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.6285+1102T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180085280 | |||||||
chr1:180085349 | T | C | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.6285+1171T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180085349 | |||||||
chr1:180085480 | T | C | 2 | a0002c0007t0002g0059 a0002c0007t0002g0060 |
2 | HG03130.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.6285+1302T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180085480 | |||||||
chr1:180085508 | GTTACACA others(15): Show |
G | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.6285+1345_6285+136 others(26): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | 180085508 | ||||||
chr1:180085589 | T | A | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.6285+1411T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180085589 | |||||||
chr1:180085926 | G | A | 6 | a0002c0002t0007g0002 a0002c0002t0007g0064 a0002c0002t0007g0067 others(3): Show |
7 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.6286-1652G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180085926 | |||||||
chr1:180085953 | T | C | 3 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 |
3 | HG01258.hp1 NA18946.hp2 NA19055.hp1 |
intron_variant | MODIFIER | c.6286-1625T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180085953 | |||||||
chr1:180086010 | A | G | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.6286-1568A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086010 | |||||||
chr1:180086089 | A | G | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.6286-1489A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086089 | |||||||
chr1:180086150 | A | C | 121 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(118): Show |
121 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(118): Show |
intron_variant | MODIFIER | c.6286-1428A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086150 | |||||||
chr1:180086220 | A | G | 35 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show |
35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.6286-1358A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086220 | |||||||
chr1:180086475 | T | C | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.6286-1103T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086475 | |||||||
chr1:180086525 | A | G | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.6286-1053A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086525 | |||||||
chr1:180086540 | C | CAT | 33 | a0001c0001t0001g0177 a0002c0002t0002g0075 a0002c0002t0007g0067 others(30): Show |
33 | HG01261.hp1 HG02015.hp1 HG02027.hp1 others(30): Show |
intron_variant | MODIFIER | c.6286-1018_6286-101 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | 180086540 | ||||||
chr1:180086540 | C | CATAT | 3 | a0003c0003t0002g0106 a0012c0014t0002g0087 a0012c0014t0002g0088 |
3 | NA18956.hp1 NA18961.hp1 NA18967.hp2 |
intron_variant | MODIFIER | c.6286-1020_6286-101 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | 180086540 | ||||||
chr1:180086540 | CAT | C | 50 | a0001c0001t0001g0164 a0001c0001t0001g0191 a0001c0001t0001g0212 others(47): Show |
51 | HG00323.hp1 HG01074.hp1 HG01074.hp2 others(48): Show |
intron_variant | MODIFIER | c.6286-1018_6286-101 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | 180086540 | ||||||
chr1:180086540 | CATAT | C | 105 | a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0070 others(102): Show |
105 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(102): Show |
intron_variant | MODIFIER | c.6286-1020_6286-101 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | 180086540 | ||||||
chr1:180086540 | CATATAT | C | 9 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0169 others(6): Show |
9 | HG02004.hp1 HG02717.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.6286-1022_6286-101 others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | 180086540 | ||||||
chr1:180086560 | T | A | 1 | a0004c0004t0003g0053 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.6286-1018T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086560 | |||||||
chr1:180086850 | A | C | 10 | a0003c0003t0002g0091 a0005c0005t0002g0125 a0005c0005t0002g0126 others(7): Show |
10 | HG01074.hp1 HG01891.hp1 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.6286-728A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086850 | |||||||
chr1:180087007 | T | G | 1 | a0002c0022t0002g0003 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.6286-571T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180087007 | |||||||
chr1:180087236 | A | G | 1 | a0001c0001t0001g0145 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.6286-342A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180087236 | |||||||
chr1:180087353 | C | T | 2 | a0002c0002t0004g0036 a0002c0002t0004g0037 |
2 | HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.6286-225C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180087353 | |||||||
chr1:180087356 | G | T | 1 | a0001c0001t0001g0216 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.6286-222G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180087356 | |||||||
chr1:180087405 | G | A | 1 | a0001c0011t0001g0148 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.6286-173G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180087405 | |||||||
chr1:180087971 | T | A | 1 | a0005c0005t0002g0141 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.6425+254T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180087971 | |||||||
chr1:180088101 | T | C | 1 | a0001c0001t0001g0159 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.6425+384T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088101 | |||||||
chr1:180088145 | G | A | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.6425+428G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088145 | |||||||
chr1:180088325 | A | G | 1 | a0001c0001t0001g0159 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.6425+608A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088325 | |||||||
chr1:180088421 | CA | C | 65 | a0001c0001t0001g0199 a0001c0001t0001g0209 a0002c0002t0002g0130 others(62): Show |
66 | HG00544.hp1 HG00639.hp1 HG00733.hp2 others(63): Show |
intron_variant | MODIFIER | c.6425+719delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180088421 | ||||||
chr1:180088421 | CAA | C | 172 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(169): Show |
173 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(170): Show |
intron_variant | MODIFIER | c.6425+718_6425+719d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180088421 | ||||||
chr1:180088456 | C | T | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.6425+739C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088456 | |||||||
chr1:180088680 | C | A | 1 | a0002c0016t0003g0045 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.6425+963C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088680 | |||||||
chr1:180088746 | A | T | 2 | a0003c0003t0002g0079 a0003c0003t0002g0080 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.6425+1029A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088746 | |||||||
chr1:180088797 | G | T | 24 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0007t0002g0058 others(21): Show |
25 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(22): Show |
intron_variant | MODIFIER | c.6425+1080G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088797 | |||||||
chr1:180088853 | A | G | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.6425+1136A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088853 | |||||||
chr1:180088993 | G | A | 3 | a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0162 |
3 | HG00639.hp2 NA18971.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.6425+1276G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088993 | |||||||
chr1:180089057 | A | G | 1 | a0001c0001t0001g0188 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.6425+1340A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089057 | |||||||
chr1:180089323 | C | T | 1 | a0001c0001t0001g0146 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.6426-1391C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089323 | |||||||
chr1:180089397 | A | G | 1 | a0006c0008t0011g0017 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.6426-1317A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089397 | |||||||
chr1:180089414 | C | G | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.6426-1300C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089414 | |||||||
chr1:180089456 | G | A | 1 | a0003c0003t0002g0108 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.6426-1258G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089456 | |||||||
chr1:180089471 | T | C | 1 | a0001c0001t0001g0164 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.6426-1243T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089471 | |||||||
chr1:180089494 | C | T | 2 | a0002c0002t0005g0124 a0002c0002t0005g0134 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.6426-1220C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089494 | |||||||
chr1:180089550 | C | G | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.6426-1164C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089550 | |||||||
chr1:180089582 | C | CA | 12 | a0001c0001t0001g0146 a0001c0001t0001g0179 a0001c0001t0001g0226 others(9): Show |
12 | HG01074.hp2 HG02135.hp1 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.6426-1115dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180089582 | ||||||
chr1:180089582 | CA | C | 21 | a0001c0001t0001g0199 a0002c0002t0002g0127 a0002c0002t0004g0021 others(18): Show |
21 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(18): Show |
intron_variant | MODIFIER | c.6426-1115delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180089582 | ||||||
chr1:180089582 | CAA | C | 5 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(2): Show |
5 | HG00323.hp1 HG01123.hp2 HG01256.hp2 others(2): Show |
intron_variant | MODIFIER | c.6426-1116_6426-111 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180089582 | ||||||
chr1:180089781 | C | T | 30 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.6426-933C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089781 | |||||||
chr1:180089814 | G | A | 4 | a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0221 others(1): Show |
4 | HG01123.hp1 HG01167.hp1 HG01256.hp1 others(1): Show |
intron_variant | MODIFIER | c.6426-900G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089814 | |||||||
chr1:180089830 | A | G | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.6426-884A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089830 | |||||||
chr1:180089929 | A | G | 1 | a0001c0001t0001g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.6426-785A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089929 | |||||||
chr1:180089946 | C | T | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.6426-768C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089946 | |||||||
chr1:180090104 | A | G | 1 | a0001c0001t0001g0069 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.6426-610A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090104 | |||||||
chr1:180090120 | A | G | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.6426-594A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090120 | |||||||
chr1:180090152 | C | T | 30 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(27): Show |
30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.6426-562C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090152 | |||||||
chr1:180090154 | T | G | 173 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(170): Show |
174 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(171): Show |
intron_variant | MODIFIER | c.6426-560T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090154 | |||||||
chr1:180090267 | C | T | 1 | a0001c0001t0001g0144 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.6426-447C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090267 | |||||||
chr1:180090274 | C | T | 19 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0016t0003g0045 others(16): Show |
20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.6426-440C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090274 | |||||||
chr1:180090287 | C | T | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.6426-427C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090287 | |||||||
chr1:180090439 | G | A | 6 | a0001c0001t0001g0150 a0001c0001t0001g0208 a0001c0001t0001g0209 others(3): Show |
6 | HG01496.hp2 NA18955.hp1 NA18956.hp2 others(3): Show |
intron_variant | MODIFIER | c.6426-275G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090439 | |||||||
chr1:180090470 | C | CGGGAGGC others(10): Show |
1 | a0001c0001t0001g0072 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.6426-242_6426-226d others(19): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090470 | ||||||
chr1:180090545 | C | CA | 11 | a0002c0002t0003g0044 a0002c0002t0007g0067 a0002c0020t0019g0011 others(8): Show |
11 | HG01261.hp1 HG02055.hp1 HG02572.hp2 others(8): Show |
intron_variant | MODIFIER | c.6426-144dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090545 | ||||||
chr1:180090545 | C | CAAAAAAA others(5): Show |
1 | a0001c0001t0001g0149 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.6426-155_6426-144d others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090545 | ||||||
chr1:180090545 | CAAAAAAA others(3): Show |
C | 23 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(20): Show |
23 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.6426-153_6426-144d others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090545 | ||||||
chr1:180090545 | CAAAAAAA others(4): Show |
C | 1 | a0002c0002t0004g0037 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.6426-154_6426-144d others(13): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090545 | ||||||
chr1:180090545 | CAAAAAAA others(5): Show |
C | 1 | a0004c0004t0003g0046 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.6426-155_6426-144d others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090545 | ||||||
chr1:180090556 | A | AAAAAAAA others(7): Show |
1 | a0001c0001t0001g0071 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.6426-145_6426-144i others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090556 | ||||||
chr1:180090556 | A | AAAAAAAA others(6): Show |
1 | a0001c0001t0001g0165 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.6426-146_6426-145i others(15): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090556 | ||||||
chr1:180090557 | A | AAAAAAAA others(7): Show |
1 | a0001c0001t0001g0147 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.6426-153_6426-140d others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090557 | ||||||
chr1:180090557 | A | AAAAAAAA others(6): Show |
15 | a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0150 others(12): Show |
15 | HG00544.hp2 HG01109.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.6426-145_6426-144i others(15): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090557 | ||||||
chr1:180090557 | A | AAAAAAAA others(5): Show |
72 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(69): Show |
72 | HG00323.hp2 HG00558.hp1 HG00597.hp2 others(69): Show |
intron_variant | MODIFIER | c.6426-146_6426-145i others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090557 | ||||||
chr1:180090557 | A | AAAAAAAA others(4): Show |
1 | a0001c0001t0001g0159 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.6426-147_6426-146i others(13): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090557 | ||||||
chr1:180090558 | A | AAAAAAAA others(5): Show |
1 | a0001c0001t0001g0232 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.6426-145_6426-144i others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090558 | ||||||
chr1:180090558 | A | AAAAAAAA others(4): Show |
1 | a0001c0001t0001g0199 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.6426-146_6426-145i others(13): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090558 | ||||||
chr1:180090601 | GACATACC others(1): Show |
G | 99 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(96): Show |
99 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(96): Show |
intron_variant | MODIFIER | c.6426-110_6426-103d others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090601 | ||||||
chr1:180090676 | A | C | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.6426-38A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090676 | |||||||
chr1:180090967 | G | A | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.6508+171G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180090967 | |||||||
chr1:180091008 | G | T | 19 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0016t0003g0045 others(16): Show |
20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.6508+212G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091008 | |||||||
chr1:180091039 | C | G | 1 | a0002c0002t0015g0020 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.6508+243C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091039 | |||||||
chr1:180091095 | C | G | 99 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(96): Show |
99 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(96): Show |
intron_variant | MODIFIER | c.6508+299C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091095 | |||||||
chr1:180091141 | A | G | 99 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(96): Show |
99 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(96): Show |
intron_variant | MODIFIER | c.6508+345A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091141 | |||||||
chr1:180091182 | CT | C | 25 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(22): Show |
25 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.6508+400delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr1 | 180091182 | ||||||
chr1:180091202 | A | AT | 10 | a0001c0001t0001g0218 a0002c0002t0003g0001 a0002c0002t0003g0044 others(7): Show |
11 | HG01074.hp2 HG02055.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.6508+406_6508+407i others(3): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091202 | |||||||
chr1:180091203 | C | G | 10 | a0001c0001t0001g0218 a0002c0002t0003g0001 a0002c0002t0003g0044 others(7): Show |
11 | HG01074.hp2 HG02055.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.6508+407C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091203 | |||||||
chr1:180091203 | C | T | 153 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(150): Show |
153 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(150): Show |
intron_variant | MODIFIER | c.6508+407C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091203 | |||||||
chr1:180091205 | G | A | 1 | a0001c0001t0001g0203 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.6508+409G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091205 | |||||||
chr1:180091233 | G | A | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.6508+437G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091233 | |||||||
chr1:180091502 | T | A | 9 | a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 others(6): Show |
9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.6508+706T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091502 | |||||||
chr1:180091556 | C | T | 1 | a0008c0015t0002g0132 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.6508+760C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091556 | |||||||
chr1:180091623 | G | C | 1 | a0001c0001t0001g0163 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.6508+827G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091623 | |||||||
chr1:180091667 | C | T | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.6508+871C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091667 | |||||||
chr1:180091750 | C | T | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.6509-864C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091750 | |||||||
chr1:180091828 | C | CA | 6 | a0003c0003t0002g0089 a0003c0003t0002g0094 a0003c0003t0002g0095 others(3): Show |
6 | HG02135.hp2 NA18967.hp2 NA18979.hp2 others(3): Show |
intron_variant | MODIFIER | c.6509-771dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr1 | 180091828 | ||||||
chr1:180092046 | C | CA | 123 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(120): Show |
123 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(120): Show |
intron_variant | MODIFIER | c.6509-558dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr1 | 180092046 | ||||||
chr1:180092144 | G | A | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.6509-470G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180092144 | |||||||
chr1:180092569 | T | C | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.6509-45T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180092569 | |||||||
chr1:180095073 | T | A | 2 | a0008c0015t0002g0131 a0008c0015t0002g0132 |
2 | HG02622.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.8512-450T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/37 | chr1 | 180095073 | |||||||
chr1:180095147 | A | C | 1 | a0002c0020t0019g0011 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.8512-376A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/37 | chr1 | 180095147 | |||||||
chr1:180095232 | T | TAGAC | 129 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(126): Show |
129 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(126): Show |
intron_variant | MODIFIER | c.8512-288_8512-285d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/37 | INFO_REALIGN_3_PRIME | chr1 | 180095232 | ||||||
chr1:180095488 | A | C | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.8512-35A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/37 | chr1 | 180095488 | |||||||
chr1:180096402 | C | CA | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.9066+233dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr1 | 180096402 | ||||||
chr1:180096402 | CA | C | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.9066+233delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr1 | 180096402 | ||||||
chr1:180096420 | C | A | 1 | a0003c0003t0002g0096 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.9066+236C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180096420 | |||||||
chr1:180096650 | G | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.9066+466G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180096650 | |||||||
chr1:180096968 | A | ATGCTGGT others(2): Show |
16 | a0001c0001t0001g0240 a0004c0004t0003g0043 a0004c0004t0003g0046 others(13): Show |
16 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(13): Show |
intron_variant | MODIFIER | c.9066+812_9066+820d others(11): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr1 | 180096968 | ||||||
chr1:180097064 | G | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.9066+880G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180097064 | |||||||
chr1:180097767 | T | C | 4 | a0002c0020t0019g0011 a0009c0009t0008g0008 a0009c0009t0008g0009 others(1): Show |
4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.9067-1096T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180097767 | |||||||
chr1:180097785 | A | AT | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.9067-1072dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr1 | 180097785 | ||||||
chr1:180097833 | C | A | 1 | a0001c0001t0001g0071 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.9067-1030C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180097833 | |||||||
chr1:180097904 | T | C | 25 | a0001c0001t0001g0240 a0002c0002t0003g0001 a0002c0002t0003g0044 others(22): Show |
26 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(23): Show |
intron_variant | MODIFIER | c.9067-959T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180097904 | |||||||
chr1:180098057 | G | A | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.9067-806G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098057 | |||||||
chr1:180098083 | G | T | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.9067-780G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098083 | |||||||
chr1:180098089 | G | A | 3 | a0001c0001t0001g0240 a0004c0004t0003g0046 a0004c0004t0003g0049 |
3 | HG01099.hp1 HG02896.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.9067-774G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098089 | |||||||
chr1:180098108 | T | G | 3 | a0003c0003t0002g0089 a0003c0003t0002g0095 a0003c0003t0002g0111 |
3 | NA18995.hp1 NA19055.hp2 NA19083.hp2 |
intron_variant | MODIFIER | c.9067-755T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098108 | |||||||
chr1:180098116 | A | G | 4 | a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0177 others(1): Show |
4 | HG00597.hp2 HG02027.hp2 HG02080.hp2 others(1): Show |
intron_variant | MODIFIER | c.9067-747A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098116 | |||||||
chr1:180098258 | C | T | 1 | a0001c0001t0001g0170 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.9067-605C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098258 | |||||||
chr1:180098330 | TTTG | T | 238 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(235): Show |
240 | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(237): Show |
intron_variant | MODIFIER | c.9067-512_9067-510d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr1 | 180098330 | ||||||
chr1:180098460 | C | T | 3 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0169 |
3 | HG02004.hp1 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.9067-403C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098460 | |||||||
chr1:180098635 | T | C | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9067-228T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098635 | |||||||
chr1:180098779 | G | A | 38 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(35): Show |
38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.9067-84G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098779 | |||||||
chr1:180098779 | G | T | 1 | a0001c0001t0001g0038 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.9067-84G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098779 | |||||||
chr1:180098787 | G | A | 1 | a0004c0004t0003g0050 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.9067-76G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098787 | |||||||
chr1:180098853 | G | A | 29 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(26): Show |
29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.9067-10G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098853 | |||||||
chr1:180099654 | T | C | 1 | a0001c0001t0001g0240 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.9189+669T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180099654 | |||||||
chr1:180099780 | A | AT | 26 | a0001c0001t0001g0191 a0002c0002t0002g0004 a0002c0002t0002g0005 others(23): Show |
26 | HG01109.hp2 HG01168.hp1 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.9189+818dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180099780 | ||||||
chr1:180099780 | A | ATT | 8 | a0002c0002t0004g0024 a0002c0002t0004g0029 a0002c0002t0004g0033 others(5): Show |
8 | HG00738.hp1 HG01169.hp1 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.9189+817_9189+818d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180099780 | ||||||
chr1:180099780 | A | ATTT | 6 | a0002c0002t0004g0021 a0002c0002t0004g0031 a0002c0002t0004g0034 others(3): Show |
6 | HG00558.hp2 HG00597.hp1 HG02129.hp1 others(3): Show |
intron_variant | MODIFIER | c.9189+816_9189+818d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180099780 | ||||||
chr1:180099780 | AT | A | 6 | a0002c0002t0005g0124 a0002c0002t0007g0064 a0003c0003t0002g0119 others(3): Show |
6 | HG01167.hp2 HG02559.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.9189+818delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180099780 | ||||||
chr1:180099780 | ATTTTTTT | A | 89 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(86): Show |
89 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(86): Show |
intron_variant | MODIFIER | c.9189+812_9189+818d others(9): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180099780 | ||||||
chr1:180099850 | A | G | 1 | a0015c0019t0001g0223 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.9189+865A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180099850 | |||||||
chr1:180099988 | G | A | 4 | a0004c0004t0003g0047 a0004c0004t0003g0052 a0004c0004t0003g0054 others(1): Show |
4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.9189+1003G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180099988 | |||||||
chr1:180100029 | G | A | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.9189+1044G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100029 | |||||||
chr1:180100075 | C | T | 2 | a0001c0001t0001g0232 a0002c0002t0004g0033 |
2 | HG00738.hp1 NA18949.hp1 |
intron_variant | MODIFIER | c.9189+1090C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100075 | |||||||
chr1:180100093 | C | T | 1 | a0001c0001t0001g0163 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.9189+1108C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100093 | |||||||
chr1:180100313 | C | A | 1 | a0004c0004t0003g0056 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.9189+1328C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100313 | |||||||
chr1:180100351 | C | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.9189+1366C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100351 | |||||||
chr1:180100603 | G | A | 1 | a0003c0003t0002g0096 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.9189+1618G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100603 | |||||||
chr1:180100769 | A | G | 1 | a0001c0001t0001g0156 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.9189+1784A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100769 | |||||||
chr1:180100920 | C | A | 1 | a0004c0004t0003g0046 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.9189+1935C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100920 | |||||||
chr1:180101082 | A | G | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+2097A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101082 | |||||||
chr1:180101270 | G | A | 1 | a0008c0029t0010g0012 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.9189+2285G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101270 | |||||||
chr1:180101286 | AT | A | 18 | a0001c0001t0001g0172 a0002c0002t0004g0021 a0002c0002t0004g0022 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+2312delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180101286 | ||||||
chr1:180101346 | C | A | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+2361C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101346 | |||||||
chr1:180101351 | T | C | 2 | a0001c0001t0001g0184 a0001c0001t0001g0216 |
2 | HG01928.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.9189+2366T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101351 | |||||||
chr1:180101488 | A | G | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.9189+2503A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101488 | |||||||
chr1:180101505 | A | T | 2 | a0001c0001t0001g0156 a0001c0001t0001g0167 |
2 | HG00597.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.9189+2520A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101505 | |||||||
chr1:180101604 | C | T | 4 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 others(1): Show |
4 | HG01891.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.9189+2619C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101604 | |||||||
chr1:180101958 | A | C | 139 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(136): Show |
139 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(136): Show |
intron_variant | MODIFIER | c.9189+2973A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101958 | |||||||
chr1:180102063 | C | G | 3 | a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0180 |
3 | HG02015.hp2 HG02040.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.9189+3078C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102063 | |||||||
chr1:180102134 | A | AT | 16 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 others(13): Show |
16 | HG01074.hp2 HG01175.hp1 HG02135.hp2 others(13): Show |
intron_variant | MODIFIER | c.9189+3168dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180102134 | ||||||
chr1:180102134 | AT | A | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+3168delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180102134 | ||||||
chr1:180102134 | ATT | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.9189+3167_9189+316 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180102134 | ||||||
chr1:180102228 | C | T | 1 | a0002c0007t0002g0242 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.9189+3243C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102228 | |||||||
chr1:180102276 | G | C | 137 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(134): Show |
137 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(134): Show |
intron_variant | MODIFIER | c.9189+3291G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102276 | |||||||
chr1:180102371 | G | A | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.9189+3386G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102371 | |||||||
chr1:180102475 | G | A | 1 | a0001c0001t0001g0038 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.9189+3490G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102475 | |||||||
chr1:180102508 | A | C | 2 | a0002c0002t0003g0001 a0002c0002t0003g0044 |
3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.9189+3523A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102508 | |||||||
chr1:180102527 | T | C | 2 | a0011c0012t0009g0065 a0011c0012t0009g0066 |
2 | HG03041.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.9189+3542T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102527 | |||||||
chr1:180102542 | C | T | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.9189+3557C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102542 | |||||||
chr1:180102649 | T | C | 98 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(95): Show |
98 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(95): Show |
intron_variant | MODIFIER | c.9189+3664T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102649 | |||||||
chr1:180102852 | A | G | 175 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(172): Show |
176 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(173): Show |
intron_variant | MODIFIER | c.9189+3867A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102852 | |||||||
chr1:180102977 | A | G | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.9189+3992A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102977 | |||||||
chr1:180103134 | A | T | 1 | a0008c0029t0010g0012 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.9189+4149A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180103134 | |||||||
chr1:180103374 | C | T | 1 | a0003c0013t0002g0110 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.9189+4389C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180103374 | |||||||
chr1:180103477 | T | C | 2 | a0005c0005t0002g0126 a0005c0005t0002g0136 |
2 | HG02559.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.9189+4492T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180103477 | |||||||
chr1:180103581 | G | T | 1 | a0015c0019t0001g0223 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.9189+4596G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180103581 | |||||||
chr1:180103809 | C | T | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.9189+4824C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180103809 | |||||||
chr1:180103815 | T | G | 132 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(129): Show |
132 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(129): Show |
intron_variant | MODIFIER | c.9189+4830T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180103815 | |||||||
chr1:180103953 | C | CAAAATAT others(17): Show |
7 | a0002c0002t0002g0127 a0002c0002t0007g0002 a0002c0002t0007g0064 others(4): Show |
8 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.9189+5031_9189+505 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180103953 | ||||||
chr1:180103953 | C | CAAATATA others(16): Show |
18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+4971_9189+497 others(27): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180103953 | ||||||
chr1:180103953 | CAAAATAT others(17): Show |
C | 8 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(5): Show |
8 | HG00738.hp2 HG01243.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.9189+5031_9189+505 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180103953 | ||||||
chr1:180104235 | T | C | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+5250T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104235 | |||||||
chr1:180104266 | A | G | 1 | a0002c0002t0004g0031 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.9189+5281A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104266 | |||||||
chr1:180104356 | C | T | 97 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(94): Show |
97 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.9189+5371C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104356 | |||||||
chr1:180104382 | T | A | 1 | a0002c0002t0002g0005 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.9189+5397T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104382 | |||||||
chr1:180104398 | C | T | 137 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(134): Show |
137 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(134): Show |
intron_variant | MODIFIER | c.9189+5413C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104398 | |||||||
chr1:180104413 | A | G | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.9189+5428A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104413 | |||||||
chr1:180104430 | T | C | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+5445T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104430 | |||||||
chr1:180104657 | G | A | 4 | a0004c0004t0003g0047 a0004c0004t0003g0052 a0004c0004t0003g0054 others(1): Show |
4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.9189+5672G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104657 | |||||||
chr1:180105215 | G | C | 1 | a0005c0005t0002g0141 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.9190-5782G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180105215 | |||||||
chr1:180105281 | G | A | 3 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 |
3 | NA18612.hp2 NA18947.hp2 NA19083.hp1 |
intron_variant | MODIFIER | c.9190-5716G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180105281 | |||||||
chr1:180105567 | C | T | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.9190-5430C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180105567 | |||||||
chr1:180105657 | A | G | 1 | a0002c0016t0003g0045 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.9190-5340A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180105657 | |||||||
chr1:180105704 | A | G | 9 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(6): Show |
9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.9190-5293A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180105704 | |||||||
chr1:180105878 | A | G | 1 | a0001c0001t0001g0155 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.9190-5119A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180105878 | |||||||
chr1:180106253 | A | G | 177 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(174): Show |
178 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(175): Show |
intron_variant | MODIFIER | c.9190-4744A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106253 | |||||||
chr1:180106298 | A | G | 1 | a0004c0004t0003g0046 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.9190-4699A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106298 | |||||||
chr1:180106306 | C | G | 1 | a0013c0021t0004g0032 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.9190-4691C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106306 | |||||||
chr1:180106357 | A | G | 5 | a0002c0007t0002g0058 a0002c0007t0002g0059 a0002c0007t0002g0060 others(2): Show |
5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.9190-4640A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106357 | |||||||
chr1:180106429 | G | A | 1 | a0004c0004t0003g0052 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.9190-4568G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106429 | |||||||
chr1:180106523 | C | T | 92 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(89): Show |
92 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(89): Show |
intron_variant | MODIFIER | c.9190-4474C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106523 | |||||||
chr1:180106709 | G | A | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.9190-4288G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106709 | |||||||
chr1:180106722 | G | A | 1 | a0003c0003t0002g0101 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.9190-4275G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106722 | |||||||
chr1:180106806 | A | AT | 8 | a0001c0001t0001g0185 a0001c0001t0001g0208 a0005c0005t0002g0139 others(5): Show |
8 | HG02809.hp1 HG03453.hp2 HG03471.hp2 others(5): Show |
intron_variant | MODIFIER | c.9190-4177dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180106806 | ||||||
chr1:180106806 | AT | A | 6 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(3): Show |
6 | HG01192.hp1 HG02004.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.9190-4177delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180106806 | ||||||
chr1:180106806 | ATT | A | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.9190-4178_9190-417 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180106806 | ||||||
chr1:180106969 | A | G | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9190-4028A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106969 | |||||||
chr1:180107334 | G | A | 4 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(1): Show |
4 | HG01192.hp1 HG02004.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.9190-3663G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107334 | |||||||
chr1:180107434 | C | T | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.9190-3563C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107434 | |||||||
chr1:180107524 | C | T | 1 | a0001c0001t0001g0218 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.9190-3473C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107524 | |||||||
chr1:180107536 | C | T | 19 | a0002c0002t0003g0001 a0002c0002t0003g0044 a0002c0016t0003g0045 others(16): Show |
20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.9190-3461C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107536 | |||||||
chr1:180107624 | C | T | 1 | a0002c0020t0019g0011 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.9190-3373C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107624 | |||||||
chr1:180107664 | G | A | 2 | a0002c0002t0003g0001 a0002c0002t0003g0044 |
3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.9190-3333G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107664 | |||||||
chr1:180107683 | C | G | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.9190-3314C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107683 | |||||||
chr1:180107687 | C | T | 1 | a0005c0005t0002g0138 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.9190-3310C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107687 | |||||||
chr1:180107830 | A | AAAAAC | 94 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.9190-3142_9190-313 others(9): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180107830 | ||||||
chr1:180107915 | A | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.9190-3082A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107915 | |||||||
chr1:180107947 | G | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.9190-3050G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107947 | |||||||
chr1:180108240 | T | C | 6 | a0007c0006t0002g0042 a0007c0006t0002g0227 a0007c0006t0002g0228 others(3): Show |
6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.9190-2757T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108240 | |||||||
chr1:180108334 | A | G | 17 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(14): Show |
17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.9190-2663A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108334 | |||||||
chr1:180108352 | G | T | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9190-2645G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108352 | |||||||
chr1:180108446 | G | A | 1 | a0004c0004t0003g0052 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.9190-2551G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108446 | |||||||
chr1:180108466 | C | T | 8 | a0002c0002t0004g0021 a0002c0002t0004g0031 a0002c0002t0004g0033 others(5): Show |
8 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.9190-2531C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108466 | |||||||
chr1:180108517 | G | A | 1 | a0003c0003t0002g0086 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.9190-2480G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108517 | |||||||
chr1:180108519 | G | A | 1 | a0014c0017t0001g0161 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.9190-2478G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108519 | |||||||
chr1:180108542 | T | C | 1 | a0017c0024t0001g0154 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.9190-2455T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108542 | |||||||
chr1:180108558 | G | A | 1 | a0006c0031t0006g0018 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.9190-2439G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108558 | |||||||
chr1:180108645 | A | T | 1 | a0001c0001t0001g0201 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.9190-2352A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108645 | |||||||
chr1:180108841 | C | G | 24 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(21): Show |
24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.9190-2156C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108841 | |||||||
chr1:180108879 | G | A | 5 | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(2): Show |
5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.9190-2118G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108879 | |||||||
chr1:180109123 | C | CT | 110 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(107): Show |
110 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(107): Show |
intron_variant | MODIFIER | c.9190-1859dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180109123 | ||||||
chr1:180109123 | C | CTT | 18 | a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(15): Show |
18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9190-1860_9190-185 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180109123 | ||||||
chr1:180109211 | C | T | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.9190-1786C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109211 | |||||||
chr1:180109370 | C | T | 1 | a0002c0002t0007g0067 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.9190-1627C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109370 | |||||||
chr1:180109371 | G | A | 1 | a0001c0001t0001g0149 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.9190-1626G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109371 | |||||||
chr1:180109414 | G | A | 6 | a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.9190-1583G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109414 | |||||||
chr1:180109447 | T | C | 1 | a0002c0002t0004g0021 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.9190-1550T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109447 | |||||||
chr1:180109464 | A | G | 4 | a0004c0004t0003g0047 a0004c0004t0003g0052 a0004c0004t0003g0054 others(1): Show |
4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.9190-1533A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109464 | |||||||
chr1:180109601 | G | A | 1 | a0001c0001t0001g0240 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.9190-1396G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109601 | |||||||
chr1:180109636 | G | T | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.9190-1361G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109636 | |||||||
chr1:180109674 | C | T | 1 | a0003c0003t0002g0108 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.9190-1323C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109674 | |||||||
chr1:180109722 | G | A | 1 | a0013c0021t0004g0032 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.9190-1275G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109722 | |||||||
chr1:180109781 | G | A | 1 | a0001c0001t0001g0184 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.9190-1216G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109781 | |||||||
chr1:180109782 | C | T | 2 | a0008c0029t0010g0012 a0023c0028t0010g0013 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.9190-1215C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109782 | |||||||
chr1:180109924 | C | T | 1 | a0002c0002t0002g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.9190-1073C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109924 | |||||||
chr1:180110092 | TTAAAA | T | 3 | a0010c0010t0002g0237 a0010c0010t0002g0238 a0010c0010t0002g0239 |
3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.9190-900_9190-896d others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180110092 | ||||||
chr1:180110209 | T | C | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.9190-788T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110209 | |||||||
chr1:180110241 | A | G | 1 | a0002c0002t0003g0044 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.9190-756A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110241 | |||||||
chr1:180110273 | C | A | 1 | a0001c0001t0001g0172 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.9190-724C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110273 | |||||||
chr1:180110316 | G | A | 1 | a0022c0030t0001g0217 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.9190-681G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110316 | |||||||
chr1:180110420 | T | C | 4 | a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 others(1): Show |
4 | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.9190-577T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110420 | |||||||
chr1:180110590 | A | C | 6 | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.9190-407A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110590 | |||||||
chr1:180110924 | C | T | 1 | a0001c0001t0001g0038 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.9190-73C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110924 | |||||||
chr1:180110980 | T | G | 87 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(84): Show |
87 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(84): Show |
intron_variant | MODIFIER | c.9190-17T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110980 |