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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPL_chr1_173794550_173829883 | 173825449 | C | CATTATTA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG01361.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0008 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0036 others(10): Show |
28 | 60 | 0.4667 | 9 | c.-13 others(20): Show |
CENPL | ENSG00000120334.16 | transcript | ENST00000682279.1 | protein_coding | 567 | chr1 | TogoVar | |||||||
CENPN_chr16_81002214_81036485 | 81024565 | T | TCAACTCA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(157): Show |
a0002a0010 | a0002c0001a0002c0006a0002c0011others(1): Show | a0002c0001t0002a0002c0001t0003a0002c0001t0006others(25): Show | a0002c0001t0002g0002 a0002c0001t0002g0003 a0002c0001t0002g0009 others(87): Show |
160 | 396 | 0.4040 | 9 | c.634 others(24): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24811282 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00673.hp1 others(76): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(8): Show | a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0146 others(49): Show |
79 | 133 | 0.5940 | 9 | c.217 others(26): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp2 HG01261.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(5): Show | a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0146 others(39): Show |
50 | 104 | 0.4808 | 9 | c.767 others(24): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CGAAAAAA others(2): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19056.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0019 | 3 | 57 | 0.0526 | 9 | c.767 others(24): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | chr2 | TogoVar | |||||||
CENPP_chr9_92320953_92625529 | 92474742 | C | CTCATCAT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01074.hp2 HG02109.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0200 a0001c0001t0003g0139 a0001c0001t0003g0144 others(11): Show |
14 | 61 | 0.2295 | 9 | c.564 others(28): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPV_chr17_16337537_16358469 | 16353372 | G | GCGGAGGC others(2): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(213): Show |
a0001a0003a0005 | a0001c0001a0001c0006a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(61): Show |
216 | 353 | 0.6119 | 9 | c.56_ others(14): Show |
p.Gly others(11): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 1/5 | 97/1132 | 64/819 | 22/272 | chr17 | TogoVar | |||
CEP104_chr1_3807086_3862211 | 3852901 | C | CGGCCAAG others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(129): Show |
a0002a0011a0018 | a0002c0002a0002c0005a0002c0012others(2): Show | a0002c0002t0001a0002c0002t0011a0002c0002t0022others(7): Show | a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0007 others(101): Show |
132 | 380 | 0.3474 | 9 | c.-14 others(24): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 1/21 | chr1 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65789696 | T | TCATCTCC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(65): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(11): Show | a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0021 others(65): Show |
68 | 110 | 0.6182 | 9 | c.239 others(30): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65797057 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01891.hp1 HG02027.hp1 others(13): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(2): Show | a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0057 others(13): Show |
16 | 75 | 0.2133 | 9 | c.239 others(30): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65951749 | C | CCCCCCCC others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00735.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 a0001c0002t0001g0046 a0001c0002t0001g0052 others(8): Show |
11 | 80 | 0.1375 | 9 | c.187 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66185180 | A | AAGAACTG others(2): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0003c0006 | a0001c0003t0002a0002c0001t0002a0003c0006t0002 | a0001c0003t0002g0109 a0001c0003t0002g0112 a0002c0001t0002g0111 others(1): Show |
4 | 110 | 0.0364 | 9 | c.-8- others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG02976.hp2 |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0001a0003c0006t0001 | a0001c0002t0001g0020 a0001c0002t0001g0021 a0003c0006t0001g0022 |
3 | 73 | 0.0411 | 9 | c.-30 others(20): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | |||||||
CEP120_chr5_123339892_123428403 | 123409992 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG02148.hp2 HG03453.hp1 HG03942.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0169 a0002c0002t0001g0201 a0003c0003t0001g0308 |
3 | 196 | 0.0153 | 9 | c.463 others(26): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 4/19 | chr5 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101929974 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02647.hp2 others(8): Show |
a0003a0004 | a0003c0004a0004c0006 | a0003c0004t0010a0003c0004t0021a0003c0004t0038others(3): Show | a0003c0004t0010g0315 a0003c0004t0010g0321 a0003c0004t0021g0316 others(8): Show |
11 | 212 | 0.0519 | 9 | c.248 others(26): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02165.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0002g0214 a0001c0001t0004g0169 a0001c0001t0012g0304 others(3): Show |
6 | 154 | 0.0390 | 9 | c.249 others(26): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101998592 | C | CAAAAAAA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02074.hp1 HG02451.hp2 HG02970.hp1 others(12): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0003a0008c0007others(1): Show | a0001c0001t0012a0002c0003t0007a0002c0003t0029others(2): Show | a0001c0001t0012g0304 a0001c0001t0012g0305 a0001c0001t0012g0306 others(12): Show |
15 | 39 | 0.3846 | 9 | c.*95 others(18): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 11/11 | 968 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP128_chr14_80491479_80946738 | 80563524 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02080.hp2 HG02132.hp1 others(6): Show |
a0001a0008a0009 | a0001c0001a0008c0011a0009c0021 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0002g0133 others(6): Show |
9 | 61 | 0.1475 | 9 | c.285 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80596819 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02922.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0009a0001c0014others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0009t0006others(2): Show | a0001c0001t0002g0155 a0001c0001t0004g0160 a0001c0001t0004g0162 others(3): Show |
6 | 19 | 0.3158 | 9 | c.280 others(30): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80617219 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01192.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0005a0002c0002t0003a0002c0002t0004others(2): Show | a0001c0001t0005g0053 a0002c0002t0003g0066 a0002c0002t0004g0070 others(3): Show |
6 | 14 | 0.4286 | 9 | c.280 others(30): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80629155 | A | ATTTTATT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00735.hp1 others(134): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0001c0009others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(134): Show |
137 | 162 | 0.8457 | 9 | c.280 others(30): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80678049 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02970.hp2 HG03041.hp1 others(9): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0015a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0028 a0001c0001t0003g0149 a0001c0001t0005g0051 others(9): Show |
12 | 69 | 0.1739 | 9 | c.280 others(30): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80880908 | A | AATAATTA others(2): Show |
intron_variant | MODIFIER | NA19240.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0003 a0001c0001t0005g0002 |
2 | 131 | 0.0153 | 9 | c.645 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 8/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80880910 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03516.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0012 a0005c0005t0001g0008 |
2 | 70 | 0.0286 | 9 | c.645 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 8/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80935646 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01243.hp1 others(12): Show |
a0001a0004a0012 | a0001c0001a0001c0022a0004c0004others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0022t0005others(2): Show | a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0106 others(12): Show |
15 | 65 | 0.2308 | 9 | c.-16 others(26): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 2/24 | chr14 | TogoVar | |||||||
CEP135_chr4_55943945_56038361 | 55961764 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG03927.hp2 NA18946.hp2 others(3): Show |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0002a0009c0014t0002 | a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0092 others(3): Show |
6 | 93 | 0.0645 | 9 | c.699 others(26): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48741130 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01169.hp2 others(8): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0105 a0001c0001t0001g0216 others(7): Show |
11 | 153 | 0.0719 | 9 | c.409 others(26): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 26/26 | chr15 | TogoVar | |||||||
CEP152_chr15_48732938_48816069 | 48787163 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(73): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0009a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(69): Show |
76 | 101 | 0.7525 | 9 | c.117 others(28): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 9/26 | chr15 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84159548 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02809.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0002a0002c0012t0002 | a0001c0001t0002g0137 a0001c0001t0002g0195 a0001c0001t0002g0196 others(1): Show |
4 | 180 | 0.0222 | 9 | c.278 others(28): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | |||||||
CEP164_chr11_117322854_117418266 | 117355999 | G | GAGCAGCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(79): Show |
a0003a0005a0006others(7): Show | a0003c0003a0003c0022a0005c0007others(9): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0005others(14): Show | a0003c0003t0002g0131 a0003c0003t0004g0007 a0003c0003t0004g0037 others(77): Show |
82 | 387 | 0.2119 | 9 | c.393 others(26): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243231190 | C | CATCATCA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01928.hp2 others(7): Show |
a0002a0010 | a0002c0002a0002c0021a0010c0011 | a0002c0002t0001a0002c0002t0006a0002c0021t0001others(1): Show | a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0145 others(7): Show |
10 | 187 | 0.0535 | 9 | c.-41 others(26): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
CEP192_chr18_12986362_13130036 | 13000091 | C | CTCTCTTT others(2): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02976.hp1 HG03209.hp2 others(6): Show |
a0002a0009 | a0002c0001a0009c0009 | a0002c0001t0001a0009c0009t0001 | a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0316 others(6): Show |
9 | 160 | 0.0563 | 9 | c.164 others(24): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15861477 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0042 others(4): Show |
8 | 131 | 0.0611 | 9 | c.*59 others(20): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 4241 | chr16 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15890556 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01516.hp2 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0006 a0002c0002t0004g0010 a0002c0002t0004g0014 others(6): Show |
20 | 174 | 0.1149 | 9 | c.-19 others(20): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | |||||||
CEP295NL_chr17_78885579_78908201 | 78885669 | T | TGGGTGTG others(2): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG02074.hp1 HG02165.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0124 others(1): Show |
5 | 428 | 0.0117 | 9 | c.*49 others(20): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 4909 | chr17 | TogoVar | |||||||
CEP295_chr11_93656682_93735358 | 93712856 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02109.hp2 others(2): Show |
a0005a0014a0016 | a0005c0006a0005c0011a0014c0023others(1): Show | a0005c0006t0001a0005c0011t0001a0014c0023t0001others(1): Show | a0005c0006t0001g0041 a0005c0011t0001g0242 a0005c0011t0001g0244 others(2): Show |
5 | 29 | 0.1724 | 9 | c.574 others(28): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180096968 | A | ATGCTGGT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(13): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0240 a0004c0004t0003g0043 a0004c0004t0003g0046 others(13): Show |
16 | 246 | 0.0650 | 9 | c.906 others(26): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174291782 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02056.hp2 HG02109.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0025 a0002c0002t0004g0067 a0002c0002t0004g0072 others(7): Show |
11 | 364 | 0.0302 | 9 | c.-14 others(28): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134557376 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01069.hp1 others(9): Show |
a0001a0004a0008 | a0001c0003a0004c0007a0008c0009 | a0001c0003t0003a0001c0003t0008a0001c0003t0023others(3): Show | a0001c0003t0003g0155 a0001c0003t0003g0170 a0001c0003t0003g0184 others(8): Show |
12 | 84 | 0.1429 | 9 | c.146 others(26): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649722 | G | GAGGTGTG others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02602.hp1 HG03834.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0073 others(3): Show |
6 | 90 | 0.0667 | 9 | c.177 others(28): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 651078 | G | GAGGTGTG others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(3): Show |
6 | 90 | 0.0667 | 9 | c.177 others(28): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
CEP78_chr9_78231075_78284690 | 78249224 | T | TTTGTCGT others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02257.hp2 HG02559.hp2 others(9): Show |
a0001a0004 | a0001c0004a0004c0012 | a0001c0004t0014a0001c0004t0023a0001c0004t0028others(5): Show | a0001c0004t0014g0023 a0001c0004t0014g0030 a0001c0004t0014g0115 others(8): Show |
12 | 168 | 0.0714 | 9 | c.106 others(26): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78249224 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(166): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0012a0001c0001t0013others(51): Show | a0001c0001t0003g0018 a0001c0001t0003g0033 a0001c0001t0003g0092 others(141): Show |
169 | 325 | 0.5200 | 9 | c.106 others(26): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94344541 | A | ACTATATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01361.hp2 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0352 a0003c0005t0005g0353 a0003c0005t0005g0354 others(4): Show |
7 | 362 | 0.0193 | 9 | c.134 others(28): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94423457 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00738.hp2 others(24): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(24): Show |
27 | 291 | 0.0928 | 9 | c.-10 others(30): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02897.hp1 NA18979.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0128 others(3): Show |
6 | 122 | 0.0492 | 9 | c.232 others(28): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118640342 | G | GTGGAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(205): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0012others(7): Show | a0001c0001t0004a0001c0001t0007a0002c0002t0002others(25): Show | a0001c0001t0004g0071 a0001c0001t0004g0083 a0001c0001t0004g0084 others(205): Show |
208 | 300 | 0.6933 | 9 | c.74- others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26241244 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01516.hp1 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0106 a0001c0001t0003g0107 a0002c0002t0001g0211 others(3): Show |
6 | 107 | 0.0561 | 9 | c.55+ others(24): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02257.hp2 HG02809.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0004c0004t0003a0004c0004t0008 | a0001c0001t0003g0097 a0001c0001t0003g0113 a0004c0004t0003g0277 others(3): Show |
6 | 103 | 0.0583 | 9 | c.208 others(26): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32944220 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(35): Show |
a0001a0005a0014others(1): Show | a0001c0004a0005c0006a0014c0022others(1): Show | a0001c0004t0001a0001c0004t0002a0005c0006t0007others(3): Show | a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0145 others(35): Show |
38 | 207 | 0.1836 | 9 | c.595 others(26): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 5/18 | chr19 | TogoVar |