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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP350_chr1_179949810_180119875 | 180036614 | TTTAAA | T | intron_variant | MODIFIER | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | 248 | 0.0202 | -5 | c.394 others(22): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180038224 | TTTTTG | T | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
a0002a0008a0010others(1): Show | a0002c0020a0008c0009a0010c0029others(1): Show | a0002c0020t0019a0008c0009t0008a0010c0029t0010others(1): Show | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | 248 | 0.0242 | -5 | c.411 others(24): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180110092 | TTAAAA | T | intron_variant | MODIFIER | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
a0009 | a0009c0010 | a0009c0010t0002 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | 248 | 0.0121 | -5 | c.919 others(22): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP41_chr7_130388771_130446016 | 130389406 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00639.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0219a0001c0001t0001g0252others(27): Show | 33 | 346 | 0.0954 | -5 | c.*94 others(16): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 4364 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130390125 | CATTAT | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01175.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0183a0001c0001t0001g0219others(10): Show | 15 | 346 | 0.0434 | -5 | c.*87 others(16): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 3645 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130401467 | TATAAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(127): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(33): Show | a0001c0001t0002g0004a0001c0001t0002g0009a0001c0001t0002g0010others(120): Show | 130 | 346 | 0.3757 | -5 | c.642 others(20): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 8/10 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130426438 | GAAAGA | G | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01070.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(17): Show | a0001c0001t0002g0086a0001c0001t0002g0094a0001c0001t0002g0096others(59): Show | 70 | 346 | 0.2023 | -5 | c.97+ others(20): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167009499 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG01256.hp2 HG01257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0051others(1): Show | a0001c0001t0001g0149a0001c0001t0001g0152a0001c0001t0011g0029others(2): Show | 6 | 376 | 0.0160 | -5 | c.439 others(22): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167011256 | AATATT | A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp2 others(19): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0015a0002c0002t0035a0002c0002t0036others(14): Show | a0002c0002t0015g0037a0002c0002t0015g0038a0002c0002t0015g0039others(19): Show | 22 | 376 | 0.0585 | -5 | c.519 others(20): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 6/12 | chr6 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167020908 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(117): Show |
a0001a0002a0006 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(58): Show | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0009others(112): Show | 120 | 376 | 0.3192 | -5 | c.580 others(22): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167030867 | CTTTGT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(138): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(73): Show | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0009others(130): Show | 141 | 376 | 0.3750 | -5 | c.989 others(22): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 10/12 | chr6 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167050776 | AAAAAG | A | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0063a0001c0001t0065others(2): Show | a0001c0001t0028g0073a0001c0001t0028g0074a0001c0001t0063g0076others(3): Show | 6 | 376 | 0.0160 | -5 | c.*10 others(18): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 10803 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP43_chr6_166994397_167057718 | 167050781 | GAAAAA | G | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(40): Show | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0009others(88): Show | 96 | 376 | 0.2553 | -5 | c.*10 others(18): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 10822 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP57L1_chr6_109090507_109179418 | 109107370 | TTTCTC | T | intron_variant | MODIFIER | HG02572.hp1 HG03225.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0027a0001c0001t0028 | a0001c0001t0012g0218a0001c0001t0012g0219a0001c0001t0012g0220others(2): Show | 5 | 228 | 0.0219 | -5 | c.-4+ others(22): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109116084 | CATTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0053 | a0001c0001t0045g0088a0001c0001t0053g0141 | 2 | 228 | 0.0088 | -5 | c.-4+ others(22): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109116127 | GTGTTA | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(75): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0044others(71): Show | 78 | 228 | 0.3421 | -5 | c.-4+ others(22): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109136700 | TTTTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00738.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0037a0001c0001t0001g0051a0001c0001t0001g0082others(14): Show | 17 | 228 | 0.0746 | -5 | c.-3- others(20): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57_chr11_95785498_95837693 | 95800763 | GGTTAT | G | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0008a0001c0003t0005 | a0001c0001t0005g0039a0001c0001t0005g0040a0001c0001t0005g0233others(19): Show | 24 | 340 | 0.0706 | -5 | c.202 others(22): Show |
CEP57 | ENSG00000166037.11 | transcript | ENST00000325542.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134565801 | TAAGAA | T | downstream_gene_variant | MODIFIER | HG02572.hp1 HG03139.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0113a0001c0001t0007g0114a0001c0001t0007g0115others(1): Show | 4 | 322 | 0.0124 | -5 | c.*42 others(16): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 771 | chr3 | TogoVar | ||||||
CEP68_chr2_65051416_65092004 | 65066744 | AAATAT | A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(31): Show |
a0001a0003a0007others(1): Show | a0001c0006a0003c0003a0007c0007others(1): Show | a0001c0006t0006a0001c0006t0025a0003c0003t0001others(8): Show | a0001c0006t0006g0119a0001c0006t0025g0128a0003c0003t0001g0125others(22): Show | 34 | 360 | 0.0944 | -5 | c.-46 others(22): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65066746 | ATATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp1 HG01257.hp2 others(2): Show |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0003a0007c0007t0003 | a0003c0003t0003g0102a0003c0003t0003g0123a0007c0007t0003g0024others(1): Show | 5 | 360 | 0.0139 | -5 | c.-46 others(22): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
CEP68_chr2_65051416_65092004 | 65073108 | CCTTAT | C | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0013a0001c0001t0007g0143a0001c0001t0007g0144 | 5 | 360 | 0.0139 | -5 | c.188 others(22): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65081694 | TTTTTG | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(64): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(7): Show | a0001c0001t0024a0001c0006t0006a0001c0006t0025others(9): Show | a0001c0001t0024g0069a0001c0006t0006g0113a0001c0006t0006g0114others(43): Show | 67 | 360 | 0.1861 | -5 | c.210 others(22): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEP70_chr3_138489344_138599260 | 138495007 | ATTTGT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(76): Show |
a0003 | a0003c0003a0003c0005a0003c0007 | a0003c0003t0003a0003c0005t0003a0003c0007t0003 | a0003c0003t0003g0003a0003c0003t0003g0009a0003c0003t0003g0010others(70): Show | 79 | 318 | 0.2484 | -5 | c.*3_ others(10): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 18/18 | 3 | chr3 | TogoVar | |||||
CEP70_chr3_138489344_138599260 | 138527166 | TTTTTG | T | intron_variant | MODIFIER | HG01175.hp1 HG01433.hp2 HG02602.hp1 others(2): Show |
a0003a0007 | a0003c0003a0007c0009 | a0003c0003t0003a0007c0009t0004 | a0003c0003t0003g0010a0003c0003t0003g0011a0007c0009t0004g0217 | 5 | 318 | 0.0157 | -5 | c.870 others(22): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 10/17 | chr3 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138532605 | CGGTAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(88): Show |
a0003a0004 | a0003c0003a0003c0005a0003c0007others(1): Show | a0003c0003t0001a0003c0003t0003a0003c0005t0003others(2): Show | a0003c0003t0001g0026a0003c0003t0001g0027a0003c0003t0001g0060others(82): Show | 91 | 318 | 0.2862 | -5 | c.636 others(18): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12671638 | CTTTCT | C | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01952.hp1 HG02165.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0003g0003others(4): Show | 9 | 380 | 0.0237 | -5 | c.*17 others(16): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 986 | chr18 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78236969 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG00735.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0015others(6): Show | a0001c0001t0003g0018a0001c0001t0003g0033a0001c0001t0003g0092others(27): Show | 34 | 340 | 0.1000 | -5 | c.253 others(20): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP78_chr9_78231075_78284690 | 78237955 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01074.hp1 others(24): Show |
a0001a0006 | a0001c0003a0001c0007a0006c0013 | a0001c0003t0004a0001c0003t0009a0001c0003t0027others(8): Show | a0001c0003t0004g0016a0001c0003t0004g0031a0001c0003t0004g0176others(20): Show | 27 | 340 | 0.0794 | -5 | 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 | 78254666 | GAATAA | G | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0028a0001c0004t0062 | a0001c0004t0014g0023a0001c0004t0014g0115a0001c0004t0028g0219others(2): Show | 6 | 340 | 0.0177 | -5 | c.125 others(22): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 10/16 | chr9 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94343470 | CTTTTT | C | intron_variant | MODIFIER | HG01070.hp2 HG02976.hp2 NA18954.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0033a0001c0001t0001g0049a0001c0001t0001g0138others(3): Show | 6 | 364 | 0.0165 | -5 | c.134 others(24): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94385730 | CCTTTA | C | intron_variant | MODIFIER | HG02056.hp2 NA18962.hp1 NA19072.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029a0001c0001t0007g0030a0001c0001t0007g0031others(1): Show | 4 | 364 | 0.0110 | -5 | c.550 others(22): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 6/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94413794 | CTTTAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(98): Show |
a0001a0007 | a0001c0001a0001c0011a0007c0010 | a0001c0001t0001a0001c0011t0001a0007c0010t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(98): Show | 101 | 364 | 0.2775 | -5 | c.-10 others(24): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94434070 | CATAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01978.hp1 others(14): Show |
a0001a0007 | a0001c0001a0001c0011a0007c0010 | a0001c0001t0001a0001c0011t0001a0007c0010t0001 | a0001c0001t0001g0212a0001c0001t0001g0241a0001c0001t0001g0242others(14): Show | 17 | 364 | 0.0467 | -5 | c.-10 others(24): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118496356 | TTTTTA | T | intron_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG01884.hp2 others(16): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0005others(1): Show | a0001c0001t0001a0004c0004t0006a0005c0005t0008others(2): Show | a0001c0001t0001g0133a0004c0004t0006g0041a0004c0004t0006g0042others(16): Show | 19 | 302 | 0.0629 | -5 | c.125 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519464 | GTGTGT | G | intron_variant | MODIFIER | HG00741.hp1 HG02809.hp1 HG02922.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0031 | a0002c0002t0002g0225a0002c0002t0002g0226a0002c0002t0031g0302 | 3 | 302 | 0.0099 | -5 | c.113 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519574 | GTGTGT | G | intron_variant | MODIFIER | HG01255.hp2 HG02818.hp1 HG02896.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0023a0002c0002t0002a0005c0005t0008 | a0001c0001t0023g0078a0002c0002t0002g0189a0002c0002t0002g0273others(3): Show | 6 | 302 | 0.0199 | -5 | c.113 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519576 | GTGTGT | G | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01934.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0178a0002c0002t0005g0265a0002c0002t0005g0267others(4): Show | 7 | 302 | 0.0232 | -5 | c.113 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118534100 | TCAAAA | T | intron_variant | MODIFIER | HG02451.hp1 HG02886.hp2 HG02965.hp2 others(3): Show |
a0007 | a0007c0007 | a0007c0007t0011a0007c0007t0013 | a0007c0007t0011g0253a0007c0007t0011g0254a0007c0007t0011g0255others(3): Show | 6 | 302 | 0.0199 | -5 | c.102 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118544107 | CTGAGA | C | intron_variant | MODIFIER | HG00621.hp1 HG01255.hp2 HG01884.hp2 others(9): Show |
a0005a0011 | a0005c0005a0011c0011 | a0005c0005t0008a0005c0005t0015a0011c0011t0008 | a0005c0005t0008g0250a0005c0005t0008g0251a0005c0005t0008g0252others(9): Show | 12 | 302 | 0.0397 | -5 | c.102 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118569341 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00733.hp1 others(35): Show |
a0003a0010 | a0003c0003a0010c0010 | a0003c0003t0003a0003c0003t0016a0010c0010t0003 | a0003c0003t0003g0001a0003c0003t0003g0002a0003c0003t0003g0003others(35): Show | 38 | 302 | 0.1258 | -5 | c.233 others(22): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600301 | GTGTGT | G | intron_variant | MODIFIER | HG01069.hp2 HG01934.hp2 HG02083.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0110a0001c0001t0004g0099a0001c0001t0004g0100others(5): Show | 8 | 302 | 0.0265 | -5 | c.232 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26252341 | TGACCA | T | intron_variant | MODIFIER | NA18968.hp1 NA19057.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0052 | 3 | 342 | 0.0088 | -5 | c.209 others(22): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP89_chr19_32870925_32976958 | 32913301 | ATATAT | A | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp2 HG02818.hp2 others(10): Show |
a0000a0003a0005 | a0000c0005a0003c0010a0005c0008 | a0000c0005t0005a0003c0010t0014a0005c0008t0006 | a0000c0005t0005g0106a0003c0010t0014g0168a0003c0010t0014g0366others(10): Show | 13 | 386 | 0.0337 | -5 | c.156 others(24): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32913303 | ATATTT | A | intron_variant | MODIFIER | HG00642.hp2 HG02559.hp1 NA21309.hp2 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0001a0002c0001t0002 | a0001c0004t0001g0200a0002c0001t0002g0309a0002c0001t0002g0310 | 3 | 386 | 0.0078 | -5 | c.156 others(24): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32913308 | TTTTTG | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(122): Show |
a0000a0001a0007others(2): Show | a0000c0012a0001c0002a0001c0004others(4): Show | a0000c0012t0004a0000c0012t0021a0001c0002t0001others(11): Show | a0000c0012t0004g0065a0000c0012t0021g0015a0001c0002t0001g0001others(119): Show | 125 | 386 | 0.3238 | -5 | c.156 others(24): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32972705 | TTTTTC | T | upstream_gene_variant | MODIFIER | HG02897.hp2 NA19057.hp2 NA19060.hp1 |
a0003a0005 | a0003c0003a0005c0008 | a0003c0003t0003a0005c0008t0006 | a0003c0003t0003g0003a0005c0008t0006g0095 | 3 | 386 | 0.0078 | -5 | c.-83 others(14): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 748 | chr19 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101730231 | TTTTTG | T | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp2 others(31): Show |
a0001a0013 | a0001c0001a0001c0002a0013c0018 | a0001c0001t0001a0001c0001t0014a0001c0001t0015others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0094a0001c0001t0001g0095others(27): Show | 34 | 352 | 0.0966 | -5 | c.447 others(22): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP97_chr3_101719614_101775562 | 101760022 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(80): Show |
a0001a0007a0011 | a0001c0001a0001c0008a0007c0014others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0027others(75): Show | 83 | 352 | 0.2358 | -5 | c.181 others(24): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEPT1_chr1_111135223_111190104 | 111154187 | GTATTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0033a0001c0001t0001g0108others(49): Show | 78 | 410 | 0.1902 | -5 | c.340 others(22): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |