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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPO_chr2_24788425_24827376 | 24811282 | C | CTTTTTTT | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01168.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(2): Show | a0001c0001t0001g0036a0001c0001t0001g0117a0001c0001t0001g0118others(17): Show | 22 | 382 | 0.0576 | 7 | c.217 others(24): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(174): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0007a0008c0006others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(117): Show | 177 | 382 | 0.4634 | 7 | c.767 others(22): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92533322 | A | ATATATAT | intron_variant | MODIFIER | HG03471.hp1 NA18955.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0014 | a0001c0001t0003g0167a0001c0001t0011g0200a0001c0001t0014g0163 | 3 | 260 | 0.0115 | 7 | c.565 others(26): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92565293 | T | TAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG02486.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0035a0001c0001t0004g0049a0001c0001t0004g0061others(3): Show | 6 | 260 | 0.0231 | 7 | c.565 others(26): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPU_chr4_184689085_184739096 | 184692449 | G | GGGAGACA | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01109.hp1 others(23): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0005others(2): Show | a0001c0001t0017a0003c0003t0003a0005c0005t0016others(2): Show | a0001c0001t0017g0149a0003c0003t0003g0026a0003c0003t0003g0027others(21): Show | 26 | 358 | 0.0726 | 7 | c.*28 others(18): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 1635 | chr4 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184712119 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG01243.hp1 others(17): Show |
a0003a0005 | a0003c0003a0003c0008a0005c0005others(1): Show | a0003c0003t0003a0003c0008t0004a0005c0005t0004others(1): Show | a0003c0003t0003g0245a0003c0003t0003g0246a0003c0008t0004g0242others(11): Show | 20 | 358 | 0.0559 | 7 | c.688 others(22): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184727116 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(26): Show |
a0003a0005a0006 | a0003c0003a0003c0008a0005c0005others(2): Show | a0003c0003t0003a0003c0008t0004a0005c0005t0004others(2): Show | a0003c0003t0003g0245a0003c0003t0003g0246a0003c0008t0004g0157others(17): Show | 29 | 358 | 0.0810 | 7 | c.214 others(24): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 3/12 | chr4 | TogoVar | ||||||
CENPVL2_chrX_51676212_51687831 | 51685843 | T | TGTGTGTG | upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 237 | 0.0042 | 7 | c.-30 others(18): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 3013 | chrX | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3856816 | G | GCCCGCGC | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02622.hp2 others(7): Show |
a0001a0018 | a0001c0006a0018c0010 | a0001c0006t0006a0018c0010t0006 | a0001c0006t0006g0124a0001c0006t0006g0126a0001c0006t0006g0127others(7): Show | 10 | 382 | 0.0262 | 7 | c.-15 others(20): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 1/21 | chr1 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65640154 | A | ATATATAT | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02257.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0005a0001c0003t0001g0007a0002c0001t0001g0024others(2): Show | 5 | 112 | 0.0446 | 7 | c.279 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 25/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65640155 | T | TATATATA | intron_variant | MODIFIER | HG01346.hp2 HG02717.hp2 HG02976.hp2 |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0020a0001c0003t0001g0006a0002c0001t0001g0066 | 3 | 112 | 0.0268 | 7 | c.279 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 25/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65773650 | C | CCCTATCA | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02965.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0020a0001c0002t0001g0021a0001c0002t0001g0069others(2): Show | 5 | 112 | 0.0446 | 7 | c.239 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65778606 | A | AGAAGGCT | intron_variant | MODIFIER | HG01109.hp2 HG03579.hp2 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006a0001c0003t0007 | a0001c0003t0001g0009a0001c0003t0006g0003a0001c0003t0007g0004 | 3 | 112 | 0.0268 | 7 | c.239 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66003990 | T | TTATAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(38): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(38): Show | 41 | 112 | 0.3661 | 7 | c.173 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66166912 | A | AAAAAAAC | intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0006 | a0001c0003t0002a0002c0001t0002a0004c0006t0002 | a0001c0003t0002g0109a0001c0003t0002g0112a0002c0001t0002g0111others(1): Show | 4 | 112 | 0.0357 | 7 | c.470 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66177427 | C | CTTTAATT | intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0006 | a0001c0003t0002a0002c0001t0002a0004c0006t0002 | a0001c0003t0002g0109a0001c0003t0002g0112a0002c0001t0002g0111others(1): Show | 4 | 112 | 0.0357 | 7 | c.107 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2/26 | chr17 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123409992 | C | CACACACA | intron_variant | MODIFIER | HG01123.hp2 HG01891.hp2 HG02071.hp1 others(9): Show |
a0001a0003 | a0001c0006a0003c0003 | a0001c0006t0009a0003c0003t0001 | a0001c0006t0009g0030a0003c0003t0001g0021a0003c0003t0001g0022others(7): Show | 12 | 376 | 0.0319 | 7 | c.463 others(24): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 4/19 | chr5 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80541443 | T | TTAAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00741.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0104a0001c0001t0003g0149a0001c0001t0005g0043others(10): Show | 13 | 164 | 0.0793 | 7 | c.288 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 21/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80580466 | A | AACGAGTT | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00735.hp2 others(46): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0016a0001c0001t0001g0032a0001c0001t0001g0033others(46): Show | 49 | 164 | 0.2988 | 7 | c.280 others(22): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80617219 | C | CTTTTTTT | intron_variant | MODIFIER | HG00733.hp2 HG02132.hp2 NA18906.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0035a0001c0001t0002g0157others(3): Show | 6 | 164 | 0.0366 | 7 | c.280 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80626470 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01192.hp1 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0005a0002c0002t0003a0002c0002t0004others(3): Show | a0001c0001t0005g0053a0001c0001t0005g0054a0002c0002t0003g0079others(5): Show | 8 | 164 | 0.0488 | 7 | c.280 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80673645 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01261.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0003a0002c0002t0004others(1): Show | a0001c0001t0001g0019a0002c0002t0003g0081a0002c0002t0003g0090others(2): Show | 5 | 164 | 0.0305 | 7 | c.280 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80677508 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01123.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0002g0099others(24): Show | 27 | 164 | 0.1646 | 7 | c.280 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80737419 | A | AAAAAGAT | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02280.hp1 others(17): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0022a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0012a0001c0001t0002g0129a0001c0001t0002g0130others(17): Show | 20 | 164 | 0.1220 | 7 | c.280 others(26): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81197380 | A | ACGGGTGG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(152): Show |
a0001a0002a0003others(21): Show | a0001c0003a0001c0004a0001c0051others(34): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(40): Show | a0001c0003t0001g0266a0001c0003t0001g0295a0001c0003t0002g0006others(136): Show | 155 | 384 | 0.4037 | 7 | c.164 others(24): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 13/25 | chr17 | TogoVar | ||||||
CEP135_chr4_55943945_56038361 | 55961764 | T | TAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01255.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0023 | a0001c0001t0002g0008a0001c0001t0002g0011a0001c0001t0002g0052others(13): Show | 17 | 346 | 0.0491 | 7 | c.699 others(24): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP152_chr15_48732938_48816069 | 48758718 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(85): Show |
a0001a0002a0004others(10): Show | a0001c0001a0002c0002a0004c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(82): Show | 88 | 342 | 0.2573 | 7 | c.269 others(26): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 19/26 | chr15 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243178308 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01978.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062a0001c0001t0002g0093a0001c0001t0002g0126others(14): Show | 17 | 303 | 0.0561 | 7 | c.156 others(26): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 10/19 | chr1 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13000091 | C | CTCTCTTT | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp2 others(27): Show |
a0002a0011a0023others(2): Show | a0002c0001a0002c0022a0002c0023others(4): Show | a0002c0001t0001a0002c0022t0001a0002c0023t0001others(4): Show | a0002c0001t0001g0019a0002c0001t0001g0020a0002c0001t0001g0021others(24): Show | 30 | 392 | 0.0765 | 7 | c.164 others(22): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP20_chr16_15860719_15893603 | 15890556 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02922.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0004a0002c0002t0008 | a0001c0001t0005g0062a0001c0001t0005g0064a0001c0001t0005g0065others(4): Show | 8 | 433 | 0.0185 | 7 | c.-19 others(18): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | ||||||
CEP250_chr20_35450598_35524280 | 35451050 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02698.hp1 HG03471.hp1 HG03491.hp1 others(2): Show |
a0001 | a0001c0001a0001c0025 | a0001c0001t0012a0001c0001t0013a0001c0025t0054 | a0001c0001t0012g0215a0001c0001t0012g0216a0001c0001t0012g0217others(2): Show | 5 | 260 | 0.0192 | 7 | c.-49 others(18): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4547 | chr20 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93681403 | A | ATTTTTTT | intron_variant | MODIFIER | HG01099.hp2 HG01358.hp2 HG01943.hp2 others(9): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0001t0001g0059others(9): Show | 12 | 354 | 0.0339 | 7 | c.765 others(24): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP295_chr11_93656682_93735358 | 93720489 | A | AAAAAAAG | intron_variant | MODIFIER | HG00673.hp2 HG02055.hp2 HG02056.hp1 others(15): Show |
a0001a0005a0018others(1): Show | a0001c0001a0005c0006a0018c0024others(1): Show | a0001c0001t0001a0005c0006t0001a0018c0024t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0129a0001c0001t0001g0137others(13): Show | 18 | 354 | 0.0509 | 7 | c.575 others(24): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 179998300 | T | TAATTTTC | intron_variant | MODIFIER | HG02886.hp1 HG03098.hp2 HG03516.hp1 others(3): Show |
a0002a0010a0022 | a0002c0002a0010c0029a0022c0028 | a0002c0002t0004a0010c0029t0010a0022c0028t0010 | a0002c0002t0004g0022a0002c0002t0004g0023a0002c0002t0004g0024others(3): Show | 6 | 248 | 0.0242 | 7 | c.101 others(26): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180008446 | G | GTTAGCTA | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
a0001a0014a0015others(5): Show | a0001c0001a0001c0011a0001c0033others(7): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(11): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | 248 | 0.3790 | 7 | c.124 others(26): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP55_chr10_93491612_93534092 | 93512226 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp2 others(87): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0013others(8): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(15): Show | a0001c0001t0001g0143a0001c0001t0001g0225a0002c0002t0001g0079others(62): Show | 90 | 386 | 0.2332 | 7 | c.529 others(24): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109171242 | A | ATTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0028a0001c0007t0029a0002c0002t0003others(12): Show | a0001c0001t0028g0221a0001c0007t0029g0005a0002c0002t0003g0001others(25): Show | 31 | 228 | 0.1360 | 7 | c.*82 others(18): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 11/11 | 8286 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP70_chr3_138489344_138599260 | 138582472 | A | AAAAAATT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(102): Show |
a0002 | a0002c0002a0002c0012 | a0002c0002t0001a0002c0002t0002a0002c0012t0002 | a0002c0002t0001g0018a0002c0002t0001g0019a0002c0002t0001g0194others(88): Show | 105 | 318 | 0.3302 | 7 | c.-6+ others(22): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 2/17 | chr3 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 628620 | G | GGTTACCA | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0022a0003c0003t0002g0023 | 2 | 91 | 0.0220 | 7 | c.512 others(24): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650590 | G | GGTGTGAC | intron_variant | MODIFIER | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071a0002c0002t0001g0072a0002c0002t0001g0079others(3): Show | 6 | 91 | 0.0659 | 7 | c.177 others(26): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12668597 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02976.hp2 HG04228.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0027others(5): Show | 8 | 380 | 0.0211 | 7 | c.*47 others(18): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 4027 | chr18 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78236969 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG02015.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0009a0001c0003t0027others(1): Show | a0001c0003t0004g0016a0001c0003t0004g0211a0001c0003t0004g0212others(4): Show | 10 | 340 | 0.0294 | 7 | c.253 others(22): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP78_chr9_78231075_78284690 | 78279066 | G | GAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0033a0001c0001t0090 | a0001c0001t0021g0012a0001c0001t0021g0095a0001c0001t0033g0012others(2): Show | 6 | 340 | 0.0177 | 7 | c.*82 others(18): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 17/17 | 8230 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
CEP83_chr12_94302698_94464867 | 94423457 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01361.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0003a0001c0003t0001a0003c0005t0005 | a0001c0001t0003g0335a0001c0001t0003g0336a0001c0001t0003g0337others(13): Show | 16 | 364 | 0.0440 | 7 | c.-10 others(28): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GTGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00597.hp2 others(10): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0058a0001c0001t0001g0105a0001c0001t0001g0127others(10): Show | 13 | 302 | 0.0431 | 7 | c.232 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118613757 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(155): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0057others(155): Show | 158 | 302 | 0.5232 | 7 | c.232 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26238202 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(169): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0003others(7): Show | a0001c0001t0001g0169a0001c0001t0001g0177a0001c0001t0001g0179others(164): Show | 172 | 342 | 0.5029 | 7 | c.-22 others(24): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0098a0001c0001t0003g0104a0001c0001t0003g0109others(6): Show | 9 | 342 | 0.0263 | 7 | c.208 others(24): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26256928 | G | GTGTGTGT | intron_variant | MODIFIER | HG03491.hp2 HG03669.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0205 | 3 | 342 | 0.0088 | 7 | c.904 others(22): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32900888 | C | CTTTTTTT | intron_variant | MODIFIER | HG01361.hp2 HG01433.hp2 HG02145.hp1 others(10): Show |
a0001a0007 | a0001c0002a0007c0011 | a0001c0002t0001a0001c0002t0010a0001c0002t0031others(1): Show | a0001c0002t0001g0028a0001c0002t0001g0036a0001c0002t0001g0058others(10): Show | 13 | 386 | 0.0337 | 7 | c.173 others(24): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 15/18 | chr19 | TogoVar |