view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | 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 | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPQ_chr6_49458370_49498107 | 49487454 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(120): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(83): Show |
123 | 362 | 0.3398 | 16 | c.478 others(31): Show |
CENPQ | ENSG00000031691.7 | transcript | ENST00000335783.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CENPS_chr1_10425433_10447808 | 10435710 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02896.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056 a0001c0001t0004g0231 |
3 | 410 | 0.0073 | 16 | c.209 others(33): Show |
CENPS | ENSG00000175279.22 | transcript | ENST00000309048.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CENPT_chr16_67823157_67852693 | 67841010 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02886.hp1 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0002 | a0003c0003t0001g0157 a0004c0004t0002g0036 |
2 | 266 | 0.0075 | 16 | c.-49 others(35): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
CENPU_chr4_184689085_184739096 | 184699356 | A | AAATAAAT others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0004 | a0004c0005 | a0004c0005t0016 | a0004c0005t0016g0285 | 1 | 358 | 0.0028 | 16 | c.986 others(33): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 11/12 | chr4 | TogoVar | |||||||
CENPU_chr4_184689085_184739096 | 184731881 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0159 a0001c0001t0017g0149 |
2 | 358 | 0.0056 | 16 | c.48- others(29): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CENPU_chr4_184689085_184739096 | 184731883 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00733.hp1 HG01081.hp2 others(37): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0013a0002c0002t0002others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0138 a0001c0001t0001g0140 others(32): Show |
40 | 358 | 0.1117 | 16 | c.48- others(29): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CENPX_chr17_82013703_82027878 | 82026564 | T | TTGTGTGT others(9): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0005 |
2 | 402 | 0.0050 | 16 | c.-37 others(27): Show |
CENPX | ENSG00000169689.15 | transcript | ENST00000392359.8 | protein_coding | 3687 | chr17 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3807443 | T | TTTTATTT others(9): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 HG03041.hp1 HG03669.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0016 | a0003c0003t0002g0004 a0003c0003t0002g0011 a0003c0003t0002g0022 others(5): Show |
10 | 382 | 0.0262 | 16 | c.*79 others(27): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 4642 | chr1 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3807443 | T | TTTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 NA18983.hp1 NA19012.hp1 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0008 a0003c0004t0002g0012 a0003c0004t0002g0192 |
3 | 382 | 0.0079 | 16 | c.*79 others(27): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 4642 | chr1 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3844698 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02809.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0144 a0001c0001t0004g0160 a0001c0001t0013g0031 others(1): Show |
4 | 382 | 0.0105 | 16 | c.566 others(31): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 6/21 | chr1 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3844707 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01167.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0020others(3): Show | a0001c0001t0003g0238 a0001c0001t0003g0259 a0001c0001t0005g0029 others(17): Show |
21 | 382 | 0.0550 | 16 | c.566 others(31): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 6/21 | chr1 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65660177 | C | CTCCTTCC others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(25): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(4): Show | a0001c0002t0001g0014 a0001c0002t0001g0021 a0001c0002t0001g0050 others(25): Show |
28 | 112 | 0.2500 | 16 | c.269 others(37): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65679129 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018 | 1 | 112 | 0.0089 | 16 | c.269 others(35): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65821520 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0010 | 1 | 112 | 0.0089 | 16 | c.239 others(37): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65870014 | T | TAAGAAAG others(9): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03041.hp1 HG03139.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0007a0002c0001t0001 | a0001c0002t0001g0059 a0001c0002t0001g0072 a0001c0002t0001g0078 others(3): Show |
6 | 112 | 0.0536 | 16 | c.216 others(37): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65920359 | C | CAAACAAA others(9): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0004 | 1 | 112 | 0.0089 | 16 | c.198 others(35): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65920362 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02602.hp2 |
a0001a0005 | a0001c0002a0005c0010 | a0001c0002t0001a0005c0010t0001 | a0001c0002t0001g0071 a0005c0010t0001g0010 |
2 | 112 | 0.0179 | 16 | c.198 others(35): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66025920 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00735.hp2 others(22): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0005 | a0001c0002t0001a0002c0001t0001a0002c0001t0008others(1): Show | a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0054 others(22): Show |
25 | 112 | 0.2232 | 16 | c.165 others(35): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66034970 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 112 | 0.0089 | 16 | c.121 others(35): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66092356 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02723.hp2 HG02965.hp1 others(1): Show |
a0001a0002a0005 | a0001c0002a0002c0001a0005c0010 | a0001c0002t0001a0002c0001t0001a0005c0010t0001 | a0001c0002t0001g0051 a0002c0001t0001g0023 a0002c0001t0001g0024 others(1): Show |
4 | 112 | 0.0357 | 16 | c.768 others(33): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 8/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAAAAAAA others(9): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0112 | 1 | 112 | 0.0089 | 16 | c.-30 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0131 | 1 | 336 | 0.0030 | 16 | c.249 others(33): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102003186 | G | GTATATAT others(9): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02074.hp1 HG02897.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0020others(5): Show | a0001c0001t0001g0046 a0001c0001t0005g0118 a0001c0001t0020g0094 others(6): Show |
9 | 336 | 0.0268 | 16 | c.*55 others(27): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2125 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 102003186 | G | GTGTATAT others(9): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 336 | 0.0030 | 16 | c.*55 others(27): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2125 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 102004895 | C | CATATATA others(9): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 NA18955.hp2 NA19005.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0001 | a0001c0001t0019g0047 a0001c0002t0001g0163 a0001c0002t0001g0174 |
3 | 336 | 0.0089 | 16 | c.*72 others(27): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3834 | chr11 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80561896 | C | CTATATAT others(9): Show |
intron_variant | MODIFIER | HG02165.hp1 HG03139.hp2 HG03669.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0009t0006others(1): Show | a0001c0001t0001g0001 a0001c0001t0002g0122 a0001c0001t0002g0124 others(5): Show |
8 | 164 | 0.0488 | 16 | c.285 others(35): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80563524 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 164 | 0.0061 | 16 | c.285 others(35): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80596819 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0006 | a0006c0007 | a0006c0007t0004 | a0006c0007t0004g0147 | 1 | 164 | 0.0061 | 16 | c.280 others(37): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80619367 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | HG03710.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0023 a0001c0001t0002g0129 |
2 | 164 | 0.0122 | 16 | c.280 others(37): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80677508 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0057 | 1 | 164 | 0.0061 | 16 | c.280 others(37): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80678045 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 164 | 0.0061 | 16 | c.280 others(37): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80678049 | A | AAAATATA others(9): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03516.hp2 NA20300.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0005a0005c0005t0001 | a0001c0001t0001g0003 a0001c0001t0005g0004 a0005c0005t0001g0008 |
3 | 164 | 0.0183 | 16 | c.280 others(37): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80678049 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0002g0129 a0001c0001t0002g0130 |
3 | 164 | 0.0183 | 16 | c.280 others(37): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80740543 | T | TAGATAGA others(9): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 164 | 0.0061 | 16 | c.280 others(35): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80810323 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0094 | 1 | 164 | 0.0061 | 16 | c.121 others(37): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80811818 | T | TTAGATAG others(9): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01123.hp1 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0029 others(46): Show |
49 | 164 | 0.2988 | 16 | c.121 others(37): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80935646 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0051 a0001c0001t0005g0059 |
2 | 164 | 0.0122 | 16 | c.-16 others(33): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 2/24 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81205439 | A | AGGAGGGT others(9): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0052 | a0052c0040 | a0052c0040t0001 | a0052c0040t0001g0250 | 1 | 384 | 0.0026 | 16 | c.515 others(33): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 5/25 | chr17 | TogoVar | |||||||
CEP152_chr15_48732938_48816069 | 48777466 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0259 | 1 | 342 | 0.0029 | 16 | c.157 others(35): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 12/26 | chr15 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84154330 | A | ATCTGTCT others(9): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 214 | 0.0047 | 16 | c.299 others(33): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 22/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84154358 | G | GTCTGTCT others(9): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02965.hp1 |
a0001a0005 | a0001c0004a0005c0010 | a0001c0004t0002a0005c0010t0002 | a0001c0004t0002g0211 a0005c0010t0002g0164 |
2 | 214 | 0.0094 | 16 | c.299 others(33): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 22/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84156743 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0211 | 1 | 214 | 0.0047 | 16 | c.278 others(35): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84159547 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0204 | 1 | 214 | 0.0047 | 16 | c.278 others(35): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | |||||||
CEP170B_chr14_104860268_104901747 | 104889949 | G | GATGGATG others(9): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 328 | 0.0031 | 16 | c.387 others(33): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104890390 | G | GTGGATGG others(9): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0080 | a0001c0080t0001 | a0001c0080t0001g0166 | 1 | 328 | 0.0031 | 16 | c.387 others(33): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104890566 | G | GTGGATGG others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0009 | a0009c0026 | a0009c0026t0003 | a0009c0026t0003g0259 | 1 | 328 | 0.0031 | 16 | c.387 others(33): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243159763 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02129.hp1 HG02451.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0053 a0001c0001t0001g0097 a0001c0001t0001g0098 others(8): Show |
11 | 303 | 0.0363 | 16 | c.367 others(35): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243178308 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 303 | 0.0033 | 16 | c.156 others(35): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 10/19 | chr1 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243254187 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 303 | 0.0033 | 16 | c.-42 others(31): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15882734 | T | TCTATCTA others(9): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 433 | 0.0023 | 16 | c.226 others(33): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar |