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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP128_chr14_80491479_80946738 | 80520441 | C | CAAAAA | intron_variant | MODIFIER | HG02145.hp1 HG02965.hp2 HG03669.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003 | a0001c0001t0001g0020a0001c0001t0001g0026a0001c0001t0001g0060others(3): Show | 6 | 164 | 0.0366 | 5 | c.307 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 23/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80571844 | C | CTTGAG | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00733.hp2 others(98): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0001c0009others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0021others(98): Show | 101 | 164 | 0.6159 | 5 | c.285 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80617219 | C | CTTTTT | intron_variant | MODIFIER | HG01433.hp1 HG01934.hp2 HG02257.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0025a0001c0001t0001g0037a0001c0001t0001g0039others(13): Show | 16 | 164 | 0.0976 | 5 | c.280 others(26): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80643709 | C | CAAAAA | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01175.hp1 others(65): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(65): Show | 68 | 164 | 0.4146 | 5 | c.280 others(26): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80673645 | C | CAAAAA | intron_variant | MODIFIER | HG01515.hp2 HG01934.hp1 HG02004.hp2 others(14): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0003others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0021a0001c0001t0001g0022others(14): Show | 17 | 164 | 0.1037 | 5 | c.280 others(26): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GTGTGT | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0133a0001c0001t0006g0118a0001c0001t0006g0119 | 3 | 164 | 0.0183 | 5 | c.280 others(26): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80770751 | T | TTCTAC | intron_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01433.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002a0003c0003t0006 | a0001c0001t0002g0112a0003c0003t0002g0120a0003c0003t0002g0127others(3): Show | 6 | 164 | 0.0366 | 5 | c.237 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 16/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80801910 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01433.hp1 others(12): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0005a0005c0005t0001 | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020others(12): Show | 15 | 164 | 0.0915 | 5 | c.121 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80897616 | C | CTTAGT | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG02083.hp2 others(12): Show |
a0001a0003a0012 | a0001c0001a0001c0014a0003c0003others(1): Show | a0001c0001t0004a0001c0014t0003a0003c0003t0002others(2): Show | a0001c0001t0004g0094a0001c0001t0004g0159a0001c0001t0004g0160others(12): Show | 15 | 164 | 0.0915 | 5 | c.573 others(22): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 7/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80937202 | T | TGTGCA | intron_variant | MODIFIER | HG01081.hp1 HG03139.hp1 NA18942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0005g0002others(2): Show | 5 | 164 | 0.0305 | 5 | c.-16 others(22): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 2/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80938245 | A | ATTTTT | intron_variant | MODIFIER | HG02145.hp1 HG02647.hp2 HG02809.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0003a0002c0002t0004others(1): Show | a0001c0001t0004g0159a0001c0001t0004g0160a0001c0001t0004g0161others(7): Show | 10 | 164 | 0.0610 | 5 | c.-16 others(22): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 2/24 | chr14 | TogoVar | ||||||
CEP135_chr4_55943945_56038361 | 55961764 | T | TAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG01346.hp2 HG01981.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0014others(1): Show | a0001c0001t0002g0055a0001c0001t0002g0061a0001c0001t0002g0083others(14): Show | 17 | 346 | 0.0491 | 5 | c.699 others(22): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP152_chr15_48732938_48816069 | 48807904 | T | TTAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(306): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0007a0001c0009others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(294): Show | 309 | 342 | 0.9035 | 5 | c.-7- others(20): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 1/26 | chr15 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84159548 | T | TATATA | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp2 HG01346.hp2 others(3): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0014 | a0001c0001t0001a0001c0001t0003a0003c0003t0003others(1): Show | a0001c0001t0001g0044a0001c0001t0003g0112a0003c0003t0003g0040others(3): Show | 6 | 214 | 0.0280 | 5 | c.278 others(24): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117363759 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG03453.hp2 NA18972.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0004a0003c0003t0005 | a0003c0003t0004g0034a0003c0003t0004g0035a0003c0003t0004g0136others(4): Show | 7 | 390 | 0.0180 | 5 | c.765 others(20): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104890358 | A | ATGGAT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(135): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0003a0001c0006others(41): Show | a0001c0002t0002a0001c0003t0002a0001c0003t0020others(45): Show | a0001c0002t0002g0002a0001c0002t0002g0005a0001c0002t0002g0027others(116): Show | 138 | 328 | 0.4207 | 5 | c.387 others(22): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170_chr1_243119428_243260281 | 243152521 | A | ATTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01168.hp2 others(23): Show |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0001a0009c0017t0007 | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(23): Show | 26 | 303 | 0.0858 | 5 | c.391 others(24): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 14/19 | chr1 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13014384 | T | TCTCAC | intron_variant | MODIFIER | HG00544.hp2 HG02523.hp1 NA18940.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016a0001c0002t0001g0230a0001c0002t0001g0231others(3): Show | 7 | 392 | 0.0179 | 5 | c.520 others(20): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP192_chr18_12986362_13130036 | 13044420 | T | TTTTTG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(116): Show |
a0000a0001a0005others(5): Show | a0000c0035a0001c0002a0001c0033others(10): Show | a0000c0035t0001a0001c0002t0001a0001c0033t0001others(10): Show | a0000c0035t0001g0264a0001c0002t0001g0016a0001c0002t0001g0017others(111): Show | 119 | 392 | 0.3036 | 5 | c.206 others(24): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 15/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP20_chr16_15860719_15893603 | 15877324 | A | AGGAGT | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG00735.hp1 others(67): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0004a0002c0002t0008others(3): Show | a0001c0001t0001g0088a0002c0002t0004g0008a0002c0002t0004g0009others(36): Show | 70 | 433 | 0.1617 | 5 | c.311 others(22): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 3/4 | chr16 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15890063 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01192.hp1 HG01516.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0005a0002c0002t0004a0003c0003t0004 | a0001c0001t0005g0027a0001c0001t0005g0028a0001c0001t0005g0062others(22): Show | 35 | 433 | 0.0808 | 5 | c.-14 others(16): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1461 | chr16 | TogoVar | ||||||
CEP250_chr20_35450598_35524280 | 35461882 | G | GGTTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(253): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0003a0001c0005others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(75): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(239): Show | 256 | 260 | 0.9846 | 5 | c.-10 others(22): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CEP290_chr12_88044016_88147088 | 88048593 | C | CAAATT | downstream_gene_variant | MODIFIER | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | 234 | 0.0128 | 5 | c.*58 others(14): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 422 | chr12 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93681403 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00609.hp1 others(58): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0016a0003c0003others(4): Show | a0001c0001t0001a0001c0016t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(47): Show | 61 | 354 | 0.1723 | 5 | c.765 others(22): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP295_chr11_93656682_93735358 | 93720489 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(165): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0012a0001c0013others(23): Show | a0001c0001t0001a0001c0012t0001a0001c0013t0001others(24): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(152): Show | 168 | 354 | 0.4746 | 5 | c.575 others(22): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP295_chr11_93656682_93735358 | 93729403 | A | AGAGTT | intron_variant | MODIFIER | HG01099.hp1 HG02165.hp1 HG03579.hp1 others(13): Show |
a0006a0009a0017 | a0006c0004a0006c0037a0009c0017others(1): Show | a0006c0004t0001a0006c0037t0001a0009c0017t0002others(1): Show | a0006c0004t0001g0002a0006c0004t0001g0027a0006c0004t0001g0029others(10): Show | 16 | 354 | 0.0452 | 5 | c.730 others(20): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP295_chr11_93656682_93735358 | 93731785 | A | ATTTAC | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02165.hp1 HG02809.hp1 others(15): Show |
a0006a0009a0010others(1): Show | a0006c0004a0006c0037a0009c0017others(2): Show | a0006c0004t0001a0006c0037t0001a0009c0017t0002others(2): Show | a0006c0004t0001g0002a0006c0004t0001g0027a0006c0004t0001g0029others(12): Show | 18 | 354 | 0.0509 | 5 | c.*15 others(16): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 1428 | chr11 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 179961446 | A | AAAAAT | intron_variant | MODIFIER | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
a0008 | a0008c0009 | a0008c0009t0008 | a0008c0009t0008g0007a0008c0009t0008g0008a0008c0009t0008g0009 | 3 | 248 | 0.0121 | 5 | c.-14 others(22): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180107830 | A | AAAAAC | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
a0001a0014a0015others(5): Show | a0001c0001a0001c0011a0001c0033others(7): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(11): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | 248 | 0.3831 | 5 | c.919 others(24): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180118842 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01192.hp1 HG02004.hp1 HG02280.hp1 others(6): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0010others(1): Show | a0001c0001t0001a0002c0002t0002a0009c0010t0002others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(6): Show | 9 | 248 | 0.0363 | 5 | c.*76 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3968 | chr1 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130432588 | C | CAAAAA | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01358.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0002g0086a0001c0001t0002g0097a0001c0001t0002g0175others(11): Show | 17 | 346 | 0.0491 | 5 | c.34- others(20): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130440782 | G | GCCCGC | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(4): Show | a0001c0001t0002g0173a0001c0001t0002g0174a0001c0001t0002g0175others(9): Show | 12 | 346 | 0.0347 | 5 | c.33+ others(18): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174319075 | C | CTAGAT | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01346.hp1 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0005a0001c0003t0007g0010a0001c0003t0007g0044others(4): Show | 10 | 388 | 0.0258 | 5 | c.*16 others(16): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 12/12 | 1699 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
CEP57L1_chr6_109090507_109179418 | 109116084 | C | CATTTT | intron_variant | MODIFIER | HG00323.hp2 HG02083.hp1 HG02451.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0025a0002c0002t0026others(4): Show | a0002c0002t0003g0023a0002c0002t0025g0025a0002c0002t0026g0024others(4): Show | 7 | 228 | 0.0307 | 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 | G | GTGTTA | intron_variant | MODIFIER | HG00099.hp1 HG01168.hp1 HG01192.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0082a0001c0001t0001g0146a0001c0001t0001g0149others(20): Show | 24 | 228 | 0.1053 | 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 | T | TTTTTA | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01168.hp1 others(22): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0038a0001c0001t0001g0097a0001c0001t0001g0195others(21): Show | 25 | 228 | 0.1097 | 5 | c.-3- others(20): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109145193 | C | CTATAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(125): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(67): Show | a0001c0001t0001g0032a0001c0001t0001g0146a0001c0001t0001g0149others(121): Show | 128 | 228 | 0.5614 | 5 | c.-3- others(16): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109148105 | T | TTTTTA | intron_variant | MODIFIER | HG02572.hp1 HG03225.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0027a0001c0001t0028 | a0001c0001t0012g0218a0001c0001t0012g0219a0001c0001t0012g0220others(2): Show | 5 | 228 | 0.0219 | 5 | c.340 others(22): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57_chr11_95785498_95837693 | 95820579 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01071.hp1 HG01168.hp1 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0015a0002c0002t0002g0033a0002c0002t0002g0042others(14): Show | 20 | 340 | 0.0588 | 5 | c.700 others(22): Show |
CEP57 | ENSG00000166037.11 | transcript | ENST00000325542.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP70_chr3_138489344_138599260 | 138555248 | C | CAAAAA | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01243.hp1 others(45): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0138a0001c0001t0001g0169a0001c0001t0001g0171others(41): Show | 48 | 318 | 0.1509 | 5 | c.465 others(24): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 6/17 | chr3 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138571740 | T | TAAAGA | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01496.hp2 others(20): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018a0002c0002t0001g0019a0002c0002t0001g0194others(18): Show | 23 | 318 | 0.0723 | 5 | c.70- others(18): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649874 | G | GACTGT | intron_variant | MODIFIER | HG02602.hp1 HG03834.hp2 HG04228.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072a0002c0002t0001g0079a0002c0002t0001g0088 | 3 | 91 | 0.0330 | 5 | c.177 others(24): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12668597 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG01123.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0040others(10): Show | 14 | 380 | 0.0368 | 5 | c.*47 others(16): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 4027 | chr18 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12672554 | T | TGAAAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(91): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(68): Show | 94 | 380 | 0.2474 | 5 | c.*81 others(14): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 70 | chr18 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78278280 | A | ATTTCC | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0021a0001c0001t0033a0001c0001t0038others(4): Show | a0001c0001t0021g0012a0001c0001t0021g0095a0001c0001t0033g0012others(6): Show | 10 | 340 | 0.0294 | 5 | c.*74 others(16): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 17/17 | 7432 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
CEP78_chr9_78231075_78284690 | 78279066 | G | GAAAAA | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG00735.hp1 others(49): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0015others(19): Show | a0001c0001t0003g0018a0001c0001t0003g0033a0001c0001t0003g0092others(43): Show | 52 | 340 | 0.1529 | 5 | c.*82 others(16): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 17/17 | 8230 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
CEP83_chr12_94302698_94464867 | 94331357 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00738.hp2 others(18): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0016others(18): Show | 21 | 364 | 0.0577 | 5 | c.170 others(22): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 14/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94416574 | A | ACACAC | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp2 HG01433.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137a0001c0001t0001g0144a0001c0001t0001g0150others(7): Show | 10 | 364 | 0.0275 | 5 | c.-10 others(24): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118460150 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(98): Show |
a0002a0003a0005others(3): Show | a0002c0002a0003c0003a0005c0005others(3): Show | a0002c0002t0002a0002c0002t0026a0002c0002t0027others(13): Show | a0002c0002t0002g0173a0002c0002t0002g0174a0002c0002t0002g0175others(98): Show | 101 | 302 | 0.3344 | 5 | c.*52 others(16): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 621 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118460150 | C | CCAAAA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00733.hp1 others(36): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0016 | a0003c0003t0003g0001a0003c0003t0003g0002a0003c0003t0003g0003others(36): Show | 39 | 302 | 0.1291 | 5 | c.*52 others(16): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 621 | chr6 | TogoVar |