view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP112_chr17_65630537_66197133 | 65937702 | G | GGGGTC | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00735.hp1 others(34): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0004c0005t0001 | a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0021 others(34): Show |
37 | 108 | 0.3426 | 5 | c.187 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66005928 | A | AATACT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(37): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0004c0005t0001 | a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(37): Show |
40 | 110 | 0.3636 | 5 | c.165 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66132168 | C | CAAAAA | intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02451.hp1 others(2): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0003c0006 | a0001c0003t0002a0002c0001t0001a0002c0001t0002others(2): Show | a0001c0003t0002g0109 a0002c0001t0001g0044 a0002c0001t0002g0111 others(2): Show |
5 | 19 | 0.2632 | 5 | c.564 others(20): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 5/26 | chr17 | TogoVar | |||||||
CEP120_chr5_123339892_123428403 | 123404165 | T | TCATAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(177): Show |
a0001a0002a0003others(3): Show | a0001c0006a0001c0011a0001c0016others(8): Show | a0001c0006t0002a0001c0006t0003a0001c0006t0008others(16): Show | a0001c0006t0002g0006 a0001c0006t0002g0204 a0001c0006t0002g0205 others(157): Show |
180 | 374 | 0.4813 | 5 | c.464 others(22): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 4/19 | chr5 | TogoVar | |||||||
CEP120_chr5_123339892_123428403 | 123409992 | C | CACACA | intron_variant | MODIFIER | HG00597.hp2 NA18972.hp2 NA18995.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0130 |
3 | 196 | 0.0153 | 5 | c.463 others(22): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 4/19 | chr5 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG02071.hp2 HG03130.hp1 others(6): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0008c0007 | a0001c0001t0002a0001c0001t0009a0002c0003t0003others(3): Show | a0001c0001t0002g0162 a0001c0001t0002g0197 a0001c0001t0009g0298 others(6): Show |
9 | 157 | 0.0573 | 5 | c.249 others(22): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80520441 | C | CAAAAA | intron_variant | MODIFIER | HG02145.hp1 HG02965.hp2 HG03669.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003 | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0060 others(3): Show |
6 | 63 | 0.0952 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0021 others(98): Show |
101 | 162 | 0.6235 | 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 | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 others(13): Show |
16 | 24 | 0.6667 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(65): Show |
68 | 161 | 0.4224 | 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(13): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0003others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 others(13): Show |
16 | 34 | 0.4706 | 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 | a0001c0001t0002g0132 a0001c0001t0006g0118 a0001c0001t0006g0119 |
3 | 48 | 0.0625 | 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 | a0001c0001t0002g0112 a0003c0003t0002g0120 a0003c0003t0002g0127 others(3): Show |
6 | 162 | 0.0370 | 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 | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 others(12): Show |
15 | 64 | 0.2344 | 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 |
a0001a0003a0010 | a0001c0001a0001c0014a0003c0003others(1): Show | a0001c0001t0004a0001c0014t0003a0003c0003t0002others(2): Show | a0001c0001t0004g0094 a0001c0001t0004g0159 a0001c0001t0004g0160 others(12): Show |
15 | 162 | 0.0926 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0005g0002 others(2): Show |
5 | 162 | 0.0309 | 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 | a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 others(7): Show |
10 | 53 | 0.1887 | 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 | a0001c0001t0002g0054 a0001c0001t0002g0060 a0001c0001t0002g0082 others(14): Show |
17 | 104 | 0.1635 | 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(305): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0007a0001c0009others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(293): Show |
308 | 340 | 0.9059 | 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 |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0014 | a0001c0001t0001a0001c0001t0003a0003c0003t0003others(1): Show | a0001c0001t0001g0040 a0001c0001t0003g0113 a0003c0003t0003g0042 others(3): Show |
6 | 182 | 0.0330 | 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 | a0003c0003t0004g0037 a0003c0003t0004g0038 a0003c0003t0004g0139 others(4): Show |
7 | 196 | 0.0357 | 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(134): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0003a0001c0006others(41): Show | a0001c0002t0002a0001c0003t0002a0001c0003t0021others(45): Show | a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0032 others(113): Show |
137 | 326 | 0.4202 | 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 | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(23): Show |
26 | 30 | 0.8667 | 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 | a0001c0002t0001g0017 a0001c0002t0001g0229 a0001c0002t0001g0231 others(3): Show |
7 | 390 | 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 |
a0001a0005a0008others(4): Show | a0001c0002a0001c0033a0001c0034others(9): Show | a0001c0002t0001a0001c0002t0005a0001c0033t0001others(10): Show | a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 others(111): Show |
119 | 390 | 0.3051 | 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 | a0001c0001t0001g0074 a0002c0002t0004g0006 a0002c0002t0004g0008 others(29): Show |
70 | 432 | 0.1620 | 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 | a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0058 others(18): Show |
35 | 278 | 0.1259 | 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(252): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0003a0001c0005others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(74): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(232): Show |
255 | 258 | 0.9884 | 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 |
a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | 232 | 0.0129 | 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 |
a0001a0002a0005others(3): Show | a0001c0001a0001c0016a0002c0003others(4): Show | a0001c0001t0001a0001c0016t0001a0002c0003t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(45): Show |
61 | 75 | 0.8133 | 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(164): Show |
a0001a0003a0004others(15): Show | a0001c0001a0001c0012a0001c0013others(23): Show | a0001c0001t0001a0001c0012t0001a0001c0013t0001others(24): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(150): Show |
167 | 209 | 0.7990 | 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 |
a0006a0009a0024 | a0006c0004a0006c0037a0009c0017others(1): Show | a0006c0004t0001a0006c0037t0001a0009c0017t0002others(1): Show | a0006c0004t0001g0002 a0006c0004t0001g0027 a0006c0004t0001g0029 others(9): Show |
16 | 352 | 0.0455 | 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 |
a0006a0009a0011others(1): Show | a0006c0004a0006c0037a0009c0017others(2): Show | a0006c0004t0001a0006c0037t0001a0009c0017t0002others(2): Show | a0006c0004t0001g0002 a0006c0004t0001g0027 a0006c0004t0001g0029 others(11): Show |
18 | 352 | 0.0511 | 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 |
a0009 | a0009c0009 | a0009c0009t0008 | a0009c0009t0008g0008 a0009c0009t0008g0009 a0009c0009t0008g0010 |
3 | 246 | 0.0122 | 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(91): Show |
a0001a0014a0015others(5): Show | a0001c0001a0001c0011a0001c0033others(7): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(11): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(91): Show |
94 | 245 | 0.3837 | 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 |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0010c0010others(1): Show | a0001c0001t0001a0002c0002t0002a0010c0010t0002others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(6): Show |
9 | 43 | 0.2093 | 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 | a0001c0001t0002g0086 a0001c0001t0002g0097 a0001c0001t0002g0174 others(11): Show |
17 | 210 | 0.0810 | 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 | a0001c0001t0002g0018 a0001c0001t0002g0173 a0001c0001t0002g0174 others(8): Show |
12 | 344 | 0.0349 | 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 | a0001c0003t0007g0007 a0001c0003t0007g0010 a0001c0003t0007g0046 others(3): Show |
10 | 386 | 0.0259 | 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 | a0002c0002t0002a0002c0002t0023a0002c0002t0024others(4): Show | a0002c0002t0002g0023 a0002c0002t0023g0025 a0002c0002t0024g0024 others(4): Show |
7 | 222 | 0.0315 | 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(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(10): Show | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 others(19): Show |
23 | 103 | 0.2233 | 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 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0038 a0001c0001t0001g0084 a0001c0001t0001g0095 others(21): Show |
25 | 172 | 0.1453 | 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(124): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(66): Show | a0001c0001t0001g0032 a0001c0001t0001g0071 a0001c0001t0001g0146 others(120): Show |
127 | 226 | 0.5619 | 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 | a0001c0001t0011a0001c0001t0025a0001c0001t0026 | a0001c0001t0011g0218 a0001c0001t0011g0219 a0001c0001t0011g0220 others(2): Show |
5 | 226 | 0.0221 | 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 | a0002c0002t0002g0015 a0002c0002t0002g0033 a0002c0002t0002g0042 others(14): Show |
20 | 233 | 0.0858 | 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 |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0137 a0001c0001t0001g0168 a0001c0001t0001g0170 others(41): Show |
48 | 134 | 0.3582 | 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 | a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0193 others(18): Show |
23 | 316 | 0.0728 | 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 | a0002c0002t0001g0069 a0002c0002t0001g0078 a0002c0002t0001g0085 |
3 | 89 | 0.0337 | 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 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0015 others(10): Show |
14 | 48 | 0.2917 | 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 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(67): Show |
94 | 378 | 0.2487 | 5 | c.*81 others(14): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 70 | chr18 | TogoVar |