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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0029 | a0001c0001t0006g0205 a0001c0001t0029g0206 |
2 | 133 | 0.0150 | 24 | c.467 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 132 | 0.0076 | 24 | c.467 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167 | 1 | 132 | 0.0076 | 24 | c.467 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352510 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 74 | 0.0135 | 24 | c.467 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG02615.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0243 a0001c0001t0002g0118 |
2 | 98 | 0.0204 | 24 | c.565 others(43): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AAAATATA others(17): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 97 | 0.0103 | 24 | c.565 others(43): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 97 | 0.0103 | 24 | c.565 others(43): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92567373 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0134 | 1 | 58 | 0.0172 | 24 | c.565 others(43): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92567403 | T | TATAGATA others(17): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0168 | 1 | 241 | 0.0041 | 24 | c.565 others(43): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184731883 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01975.hp2 NA18983.hp1 |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0014 | a0001c0001t0001g0163 a0005c0004t0014g0293 |
2 | 31 | 0.0645 | 24 | c.48- others(37): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3825008 | A | AGGGGGGC others(17): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0151 | 1 | 373 | 0.0027 | 24 | c.236 others(41): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 18/21 | chr1 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3825053 | A | AGGGGGCA others(17): Show |
intron_variant | MODIFIER | HG02074.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0309 a0001c0001t0008g0246 |
2 | 182 | 0.0110 | 24 | c.236 others(41): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 18/21 | chr1 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3825053 | A | AGGGGGGC others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0140 a0001c0001t0008g0260 |
2 | 182 | 0.0110 | 24 | c.236 others(41): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 18/21 | chr1 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65660177 | C | CTCCTTCC others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02027.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0034 a0001c0002t0001g0048 a0001c0003t0001g0007 others(4): Show |
7 | 26 | 0.2692 | 24 | c.269 others(45): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65920362 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 7 | 0.1429 | 24 | c.198 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65936809 | C | CTCCTCCC others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(49): Show |
52 | 109 | 0.4771 | 24 | c.187 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65950699 | C | CTATTATT others(17): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0065 | 1 | 37 | 0.0270 | 24 | c.187 others(45): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65970437 | T | TGCATGTA others(17): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0006 | a0006c0009 | a0006c0009t0005 | a0006c0009t0005g0002 | 1 | 109 | 0.0092 | 24 | c.173 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66025920 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02976.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0047 |
3 | 8 | 0.3750 | 24 | c.165 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66034970 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03688.hp1 NA19063.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 a0001c0002t0001g0064 |
2 | 88 | 0.0227 | 24 | c.121 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66034972 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02027.hp1 HG02602.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 a0001c0002t0001g0063 a0001c0002t0001g0072 others(4): Show |
7 | 57 | 0.1228 | 24 | c.121 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66034976 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 90 | 0.0111 | 24 | c.121 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00639.hp2 others(4): Show |
a0001a0015 | a0001c0001a0015c0016 | a0001c0001t0002a0001c0001t0009a0001c0001t0060others(1): Show | a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0227 others(4): Show |
7 | 155 | 0.0452 | 24 | c.249 others(41): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101938173 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0222 | 1 | 335 | 0.0030 | 24 | c.249 others(41): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102002582 | T | TATAGGAC others(17): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0292 | 1 | 336 | 0.0030 | 24 | c.*49 others(35): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1521 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 102003184 | G | GTATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0304 a0001c0001t0012g0306 |
2 | 201 | 0.0100 | 24 | c.*55 others(35): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2123 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 102003186 | G | GTATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 HG03195.hp2 NA19063.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0031a0002c0003t0003 | a0001c0001t0001g0073 a0001c0001t0031g0046 a0002c0003t0003g0029 |
3 | 35 | 0.0857 | 24 | c.*55 others(35): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2125 | chr11 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80561896 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0004a0001c0014t0003 | a0001c0001t0004g0160 a0001c0014t0003g0151 |
2 | 67 | 0.0299 | 24 | c.285 others(43): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80619367 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01515.hp2 HG01934.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0002c0002t0003a0002c0006t0003others(1): Show | a0001c0001t0001g0033 a0002c0002t0003g0068 a0002c0006t0003g0096 others(2): Show |
5 | 21 | 0.2381 | 24 | c.280 others(45): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80811818 | T | TTAGATAG others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01175.hp1 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0046 others(17): Show |
20 | 31 | 0.6452 | 24 | c.121 others(45): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81205336 | G | GGGGTAGG others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01358.hp2 HG01496.hp1 others(42): Show |
a0001a0002a0005others(8): Show | a0001c0003a0001c0004a0002c0002others(11): Show | a0001c0003t0001a0001c0004t0001a0002c0002t0001others(11): Show | a0001c0003t0001g0293 a0001c0004t0001g0025 a0001c0004t0001g0268 others(36): Show |
45 | 381 | 0.1181 | 24 | c.515 others(41): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 5/25 | chr17 | TogoVar | |||||||
CEP152_chr15_48732938_48816069 | 48765636 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 92 | 0.0109 | 24 | c.228 others(43): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 17/26 | chr15 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243159761 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 301 | 0.0033 | 24 | c.367 others(43): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243159763 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01891.hp2 others(25): Show |
a0001a0003a0008 | a0001c0001a0001c0014a0003c0003others(2): Show | a0001c0001t0001a0001c0014t0001a0003c0003t0003others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 others(25): Show |
28 | 106 | 0.2642 | 24 | c.367 others(43): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15861895 | C | CTATCACT others(17): Show |
downstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 432 | 0.0023 | 24 | c.*55 others(35): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 3823 | chr16 | TogoVar | |||||||
CEP290_chr12_88044016_88147088 | 88086704 | T | TATCCATC others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG02145.hp2 others(3): Show |
a0001a0002a0008 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0140 a0001c0008t0001g0200 a0002c0002t0001g0112 others(3): Show |
6 | 59 | 0.1017 | 24 | c.419 others(41): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | TogoVar | |||||||
CEP350_chr1_179949810_180119875 | 180004906 | G | GCTTGCTT others(17): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0060 | 1 | 46 | 0.0217 | 24 | c.113 others(43): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180004906 | G | GCTTGCTT others(17): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0141 | 1 | 46 | 0.0217 | 24 | c.113 others(43): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180004906 | G | GCTTGCTT others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02818.hp2 |
a0005a0010 | a0005c0005a0010c0010 | a0005c0005t0002a0010c0010t0002 | a0005c0005t0002g0125 a0010c0010t0002g0237 |
2 | 47 | 0.0426 | 24 | c.113 others(43): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180004906 | G | GCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0047 | 1 | 46 | 0.0217 | 24 | c.113 others(43): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180103953 | C | CAAAATAT others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(5): Show |
a0002a0011 | a0002c0002a0011c0012 | a0002c0002t0002a0002c0002t0007a0011c0012t0009 | a0002c0002t0002g0127 a0002c0002t0007g0002 a0002c0002t0007g0064 others(4): Show |
8 | 220 | 0.0364 | 24 | c.918 others(43): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167042814 | T | TTGTGTGT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(33): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0012a0001c0001t0022a0001c0001t0037others(23): Show | a0001c0001t0012g0001 a0001c0001t0012g0029 a0001c0001t0012g0145 others(30): Show |
36 | 48 | 0.7500 | 24 | c.*28 others(35): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 2862 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP44_chr4_174278911_174325328 | 174320698 | G | GTGTATGT others(17): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 260 | 0.0038 | 24 | c.*33 others(35): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 371 | chr4 | TogoVar | |||||||
CEP63_chr3_134481057_134570031 | 134547614 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0292 | 1 | 7 | 0.1429 | 24 | c.106 others(41): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138499783 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 |
a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0029 a0004c0006t0005g0030 |
2 | 117 | 0.0171 | 24 | c.165 others(41): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 16/17 | chr3 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650104 | G | GTGAGGTG others(17): Show |
intron_variant | MODIFIER | HG01981.hp2 NA18942.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 a0002c0002t0001g0081 |
2 | 74 | 0.0270 | 24 | c.177 others(43): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118542900 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0203 | 1 | 57 | 0.0175 | 24 | c.102 others(45): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(17): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0239 | 1 | 117 | 0.0085 | 24 | c.232 others(43): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0008 | 1 | 117 | 0.0085 | 24 | c.232 others(43): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118614849 | T | TAGACAGA others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0193 | 1 | 212 | 0.0047 | 24 | c.232 others(43): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar |