regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPS_chr1_10425433_10447808 | 10437758 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0013others(39): Show | 63 | 410 | 0.1537 | -8 | c.210 others(25): Show |
CENPS | ENSG00000175279.22 | transcript | ENST00000309048.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CENPT_chr16_67823157_67852693 | 67841010 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(140): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0005a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(104): Show | 143 | 266 | 0.5376 | -8 | c.-49 others(27): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 1/15 | chr16 | TogoVar | ||||||
CENPVL1_chrX_51705512_51717131 | 51707493 | AAAACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 238 | 0.0042 | -8 | c.-30 others(19): Show |
CENPVL1 | ENSG00000223591.5 | transcript | ENST00000602548.2 | protein_coding | 3018 | chrX | TogoVar | ||||||
CENPVL1_chrX_51705512_51717131 | 51707495 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(44): Show |
a0000a0001a0002others(1): Show | a0000c0006a0001c0001a0001c0003others(2): Show | a0000c0006t0001a0001c0001t0001a0001c0003t0001others(2): Show | a0000c0006t0001g0000a0001c0001t0001g0000a0001c0003t0001g0000others(2): Show | 47 | 238 | 0.1975 | -8 | c.-30 others(19): Show |
CENPVL1 | ENSG00000223591.5 | transcript | ENST00000602548.2 | protein_coding | 3016 | chrX | TogoVar | ||||||
CENPVL2_chrX_51676212_51687831 | 51684454 | CCACTCTC others(1): Show |
C | upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 237 | 0.0042 | -8 | c.-16 others(19): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 1624 | chrX | TogoVar | ||||||
CENPVL2_chrX_51676212_51687831 | 51685791 | CTTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 237 | 0.0084 | -8 | c.-29 others(19): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 2961 | chrX | TogoVar | ||||||
CENPVL2_chrX_51676212_51687831 | 51685792 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01934.hp1 HG02622.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0000a0001c0001t0004g0000 | 11 | 237 | 0.0464 | -8 | c.-29 others(19): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 2962 | chrX | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3807443 | TTTTATTT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(134): Show |
a0001a0004a0011others(5): Show | a0001c0001a0001c0006a0004c0007others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(23): Show | a0001c0001t0003g0009a0001c0001t0003g0025a0001c0001t0003g0026others(115): Show | 137 | 382 | 0.3586 | -8 | c.*79 others(19): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 4642 | chr1 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3861105 | GATTGTGC others(1): Show |
G | upstream_gene_variant | MODIFIER | NA18954.hp1 NA18955.hp1 NA18980.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0002 | a0002c0002t0001g0001a0002c0002t0001g0048a0003c0003t0002g0189 | 3 | 382 | 0.0079 | -8 | c.-42 others(19): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 3895 | chr1 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65651678 | CTTCCTTC others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03225.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0035a0002c0001t0001g0013 | 2 | 112 | 0.0179 | -8 | c.269 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65660460 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01258.hp1 others(7): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0053a0001c0002t0001g0071a0001c0002t0001g0075others(7): Show | 10 | 112 | 0.0893 | -8 | c.269 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65729911 | TCAAACAA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00642.hp2 others(51): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0047others(51): Show | 54 | 112 | 0.4821 | -8 | c.260 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 23/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65735544 | AATGTACT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00642.hp2 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0047others(44): Show | 47 | 112 | 0.4196 | -8 | c.260 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 23/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65742673 | AATGAAAG others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp2 HG03195.hp2 |
a0001a0002 | a0001c0003a0002c0001a0002c0007 | a0001c0003t0001a0002c0001t0001a0002c0007t0001 | a0001c0003t0001g0005a0002c0001t0001g0083a0002c0007t0001g0108 | 3 | 112 | 0.0268 | -8 | c.260 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 23/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65751952 | TTCTATCT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00642.hp1 others(52): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(8): Show | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0035others(52): Show | 55 | 112 | 0.4911 | -8 | c.239 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65751998 | CTATCTAC others(1): Show |
C | intron_variant | MODIFIER | HG03139.hp1 HG03225.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0034a0002c0001t0001g0012 | 2 | 112 | 0.0179 | -8 | c.239 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65752014 | TCATCCAT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02602.hp2 HG03579.hp2 others(1): Show |
a0001a0006 | a0001c0003a0006c0010 | a0001c0003t0001a0001c0003t0006a0001c0003t0007others(1): Show | a0001c0003t0001g0009a0001c0003t0006g0003a0001c0003t0007g0004others(1): Show | 4 | 112 | 0.0357 | -8 | c.239 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65864913 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0003others(1): Show | a0001c0002t0001g0021a0001c0003t0001g0033a0001c0003t0001g0105others(2): Show | 5 | 112 | 0.0446 | -8 | c.216 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65870014 | TAAGAAAG others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01891.hp2 HG02622.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0092a0001c0003t0001g0005a0002c0001t0001g0012others(1): Show | 4 | 112 | 0.0357 | -8 | c.216 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65920362 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02622.hp2 HG02976.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020a0001c0002t0001g0021a0001c0002t0001g0034others(8): Show | 11 | 112 | 0.0982 | -8 | c.198 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65963674 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02027.hp2 others(10): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0006 | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(4): Show | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0009others(10): Show | 13 | 112 | 0.1161 | -8 | c.173 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65989244 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02027.hp2 others(10): Show |
a0001a0004a0006 | a0001c0003a0004c0006a0006c0010 | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(4): Show | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0009others(10): Show | 13 | 112 | 0.1161 | -8 | c.173 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65996129 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02976.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020a0001c0002t0001g0021 | 2 | 112 | 0.0179 | -8 | c.173 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66009189 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00642.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0003c0005others(1): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(3): Show | a0001c0002t0001g0034a0001c0002t0001g0035a0001c0002t0001g0059others(27): Show | 30 | 112 | 0.2679 | -8 | c.165 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66034972 | GCATGTAT others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01258.hp2 others(15): Show |
a0002a0005 | a0002c0001a0002c0004a0002c0007others(2): Show | a0002c0001t0001a0002c0001t0003a0002c0004t0001others(3): Show | a0002c0001t0001g0025a0002c0001t0001g0027a0002c0001t0001g0037others(15): Show | 18 | 112 | 0.1607 | -8 | c.121 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66067016 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01884.hp2 others(8): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0007a0002c0001t0001others(1): Show | a0001c0002t0001g0020a0001c0002t0001g0021a0001c0002t0001g0051others(8): Show | 11 | 112 | 0.0982 | -8 | c.856 others(23): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 9/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66164886 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG04115.hp1 |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0001a0006c0010t0001 | a0001c0002t0001g0073a0006c0010t0001g0010 | 2 | 112 | 0.0179 | -8 | c.470 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66188278 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03041.hp2 NA18983.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0007 | a0001c0002t0001a0002c0001t0001a0002c0007t0001 | a0001c0002t0001g0020a0002c0001t0001g0095a0002c0001t0001g0096others(1): Show | 4 | 112 | 0.0357 | -8 | c.-9+ others(23): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66188286 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG01109.hp2 others(8): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0006others(3): Show | a0001c0002t0001g0014a0001c0003t0001g0009a0001c0003t0006g0003others(8): Show | 11 | 112 | 0.0982 | -8 | c.-9+ others(23): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/26 | chr17 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123375588 | GTTGGGAT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(165): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0008others(5): Show | a0001c0006t0001a0001c0006t0008a0001c0006t0009others(11): Show | a0001c0006t0001g0103a0001c0006t0008g0010a0001c0006t0009g0030others(147): Show | 168 | 376 | 0.4468 | -8 | c.235 others(27): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 16/19 | chr5 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101917028 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00597.hp1 others(59): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0046a0001c0001t0001g0055a0001c0001t0001g0056others(59): Show | 62 | 336 | 0.1845 | -8 | c.128 others(25): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 102003679 | CTAAATAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01255.hp2 others(16): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0037a0001c0001t0001g0083a0001c0001t0001g0085others(16): Show | 19 | 336 | 0.0566 | -8 | c.*60 others(19): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2618 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102004895 | CATATATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01099.hp1 HG01106.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0110a0001c0001t0006g0043a0001c0001t0006g0114others(4): Show | 7 | 336 | 0.0208 | -8 | c.*72 others(19): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3834 | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80615848 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00735.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0019others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0033a0001c0001t0002g0099others(18): Show | 21 | 164 | 0.1281 | -8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80647033 | GCATGTAT others(1): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01515.hp1 HG03098.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0003a0005c0005t0009 | a0001c0001t0001g0019a0001c0001t0001g0030a0002c0002t0003g0077others(1): Show | 4 | 164 | 0.0244 | -8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80656275 | TTATTTAT others(1): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02040.hp2 HG03688.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0003 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0031others(2): Show | 5 | 164 | 0.0305 | -8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80689290 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02280.hp1 others(10): Show |
a0001a0005 | a0001c0001a0001c0022a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0002g0129others(10): Show | 13 | 164 | 0.0793 | -8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80701570 | GGGCATCA others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG06807.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0156a0001c0001t0002g0157a0001c0001t0006g0155 | 3 | 164 | 0.0183 | -8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80706704 | ATCATTAT others(1): Show |
A | intron_variant | MODIFIER | HG03669.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0016a0001c0001t0006g0101 | 2 | 164 | 0.0122 | -8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80711295 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02965.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0026a0002c0002t0003g0143 | 2 | 164 | 0.0122 | -8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80732471 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02602.hp2 HG02886.hp1 HG03688.hp2 others(1): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0020 | a0001c0001t0001a0001c0001t0005a0002c0002t0003others(1): Show | a0001c0001t0001g0020a0001c0001t0005g0002a0002c0002t0003g0141others(1): Show | 4 | 164 | 0.0244 | -8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80733339 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00741.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0021others(28): Show | 31 | 164 | 0.1890 | -8 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80740494 | CTAGATAG others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG01175.hp2 others(7): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0027others(7): Show | 10 | 164 | 0.0610 | -8 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80740543 | TAGACAGA others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01261.hp1 HG02040.hp1 others(6): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0003a0002c0002t0004a0004c0004t0013 | a0002c0002t0003g0076a0002c0002t0003g0079a0002c0002t0003g0090others(6): Show | 9 | 164 | 0.0549 | -8 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80811697 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02922.hp2 others(8): Show |
a0001a0005 | a0001c0001a0001c0022a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0012a0001c0001t0002g0129a0001c0001t0002g0130others(8): Show | 11 | 164 | 0.0671 | -8 | c.121 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80856720 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp2 HG02809.hp2 others(2): Show |
a0001a0012 | a0001c0001a0012c0020 | a0001c0001t0004a0012c0020t0004 | a0001c0001t0004g0159a0001c0001t0004g0160a0001c0001t0004g0161others(2): Show | 5 | 164 | 0.0305 | -8 | c.762 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 9/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80935556 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp2 HG02647.hp2 others(7): Show |
a0001a0012 | a0001c0001a0001c0022a0012c0020 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0003a0001c0001t0004g0159a0001c0001t0004g0160others(7): Show | 10 | 164 | 0.0610 | -8 | c.-16 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 2/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80944822 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01081.hp2 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0019a0002c0002others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0099a0001c0001t0002g0102a0001c0001t0002g0108others(33): Show | 36 | 164 | 0.2195 | -8 | c.-34 others(19): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 3085 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80944850 | AAAAAAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp1 HG02080.hp1 HG02559.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004 | a0002c0002t0003g0077a0002c0002t0003g0078a0002c0002t0003g0089others(5): Show | 8 | 164 | 0.0488 | -8 | c.-34 others(19): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 3113 | chr14 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81227553 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01358.hp2 HG02630.hp1 HG02895.hp2 others(20): Show |
a0005a0012a0014others(4): Show | a0005c0006a0012c0016a0014c0024others(7): Show | a0005c0006t0001a0012c0016t0001a0014c0024t0001others(7): Show | a0005c0006t0001g0005a0005c0006t0001g0022a0005c0006t0001g0250others(16): Show | 23 | 384 | 0.0599 | -8 | c.-48 others(19): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 4589 | chr17 | TogoVar |