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 | 65821538 | ATATTT | A | intron_variant | MODIFIER | HG02027.hp2 HG03704.hp1 HG03834.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0002a0002c0001t0001 | a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0003t0002g0109 others(1): Show |
4 | 112 | 0.0357 | -5 | c.239 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65828690 | TTTTGA | T | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00735.hp1 others(38): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(5): Show | a0001c0002t0001g0014 a0001c0002t0001g0034 a0001c0002t0001g0035 others(38): Show |
41 | 112 | 0.3661 | -5 | c.239 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65852291 | CTCCCT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(97): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0002c0001others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(13): Show | a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(97): Show |
100 | 112 | 0.8929 | -5 | c.216 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65973359 | TAATAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(52): Show |
55 | 112 | 0.4911 | -5 | c.173 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65986703 | TTATAA | T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00642.hp1 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0001a0002c0004others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(13): Show | a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0009 others(63): Show |
66 | 112 | 0.5893 | -5 | c.173 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66013121 | ATTATT | A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(38): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0004c0005t0001 | a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(38): Show |
41 | 112 | 0.3661 | -5 | c.165 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66029747 | TTTAGA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(89): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0001a0002c0004others(4): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(8): Show | a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(89): Show |
92 | 112 | 0.8214 | -5 | c.137 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 13/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66127540 | ATTACT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0006others(10): Show | a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(94): Show |
97 | 112 | 0.8661 | -5 | c.642 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 6/26 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101911094 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01255.hp1 HG01516.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0024others(6): Show | a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0189 others(33): Show |
36 | 336 | 0.1071 | -5 | c.-41 others(16): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3915 | chr11 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80563524 | CTTTTT | C | intron_variant | MODIFIER | HG00733.hp2 HG01891.hp1 HG02080.hp1 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0035 others(19): Show |
22 | 164 | 0.1342 | -5 | c.285 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80596725 | ATCACT | A | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01192.hp1 others(49): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0009a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(49): Show |
52 | 164 | 0.3171 | -5 | c.280 others(26): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80637097 | AAAAAG | A | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG01261.hp2 others(42): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0008a0001c0009others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0034 others(42): Show |
45 | 164 | 0.2744 | -5 | c.280 others(26): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80859395 | TGTGGG | T | intron_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01433.hp2 others(12): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0020 | a0001c0001t0002a0001c0001t0004a0003c0003t0002others(2): Show | a0001c0001t0002g0112 a0001c0001t0004g0094 a0001c0001t0004g0159 others(12): Show |
15 | 164 | 0.0915 | -5 | c.762 others(22): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 9/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80859552 | ATAAAT | A | intron_variant | MODIFIER | HG02615.hp1 NA18522.hp1 |
a0007 | a0007c0010 | a0007c0010t0001a0007c0010t0005 | a0007c0010t0001g0057 a0007c0010t0005g0056 |
2 | 164 | 0.0122 | -5 | c.762 others(22): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 9/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80944822 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02738.hp1 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0005a0001c0014t0003a0002c0002t0003others(4): Show | a0001c0001t0005g0009 a0001c0014t0003g0151 a0002c0002t0003g0068 others(4): Show |
7 | 164 | 0.0427 | -5 | c.-34 others(16): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 3085 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81185787 | GTGAAC | G | downstream_gene_variant | MODIFIER | HG00673.hp1 NA18942.hp2 NA18971.hp2 |
a0001a0045 | a0001c0001a0045c0039 | a0001c0001t0001a0045c0039t0001 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0045c0039t0001g0251 |
3 | 384 | 0.0078 | -5 | c.*39 others(16): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3808 | chr17 | TogoVar | |||||||
CEP152_chr15_48732938_48816069 | 48785918 | AAAGAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(120): Show |
a0001a0002a0006others(10): Show | a0001c0001a0001c0025a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0025t0001others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(115): Show |
123 | 342 | 0.3597 | -5 | c.117 others(24): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 9/26 | chr15 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84134837 | AATTAT | A | intron_variant | MODIFIER | HG02258.hp2 HG02886.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0005 a0001c0005t0004g0085 a0001c0005t0004g0086 others(4): Show |
7 | 214 | 0.0327 | -5 | c.387 others(24): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 25/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84149350 | AAAATT | A | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0119 a0002c0002t0002g0146 a0002c0002t0002g0155 |
3 | 214 | 0.0140 | -5 | c.377 others(22): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 24/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84170373 | CAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02809.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0010 | a0001c0001t0002a0001c0004t0002a0005c0010t0002 | a0001c0001t0002g0110 a0001c0001t0002g0140 a0001c0001t0002g0199 others(4): Show |
7 | 214 | 0.0327 | -5 | c.228 others(22): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 17/26 | chr6 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243160919 | TAAAAC | T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00738.hp2 others(39): Show |
a0001 | a0001c0001a0001c0010a0001c0025 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0002g0009 a0001c0001t0002g0062 a0001c0001t0002g0081 others(39): Show |
42 | 303 | 0.1386 | -5 | c.367 others(24): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243259237 | TAAAAA | T | upstream_gene_variant | MODIFIER | HG01981.hp1 HG02615.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0116 others(3): Show |
6 | 303 | 0.0198 | -5 | c.-42 others(16): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 3957 | chr1 | TogoVar | |||||||
CEP192_chr18_12986362_13130036 | 13003451 | GAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(137): Show |
a0001a0005a0008others(10): Show | a0001c0002a0001c0034a0001c0037others(14): Show | a0001c0002t0001a0001c0002t0005a0001c0034t0001others(15): Show | a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 others(132): Show |
140 | 392 | 0.3571 | -5 | c.290 others(22): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 3/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13108313 | TTAAAC | T | intron_variant | MODIFIER | HG02976.hp1 HG03209.hp2 HG03516.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0342 a0002c0001t0001g0343 a0002c0001t0001g0360 others(1): Show |
4 | 392 | 0.0102 | -5 | c.704 others(24): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 40/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP19_chr3_196701277_196717250 | 196707493 | AGTCTG | A | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG00741.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0029 | a0001c0001t0004g0005 a0001c0001t0004g0015 a0001c0001t0004g0022 others(6): Show |
46 | 432 | 0.1065 | -5 | c.*53 others(12): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 3/3 | 53 | chr3 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15866132 | TAAGTA | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0018others(1): Show | a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0022 others(30): Show |
78 | 433 | 0.1801 | -5 | c.*13 others(16): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 5/5 | 1303 | chr16 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15890556 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG02257.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0068 a0001c0001t0006g0005 a0001c0001t0006g0056 others(4): Show |
17 | 433 | 0.0393 | -5 | c.-19 others(16): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | |||||||
CEP250_chr20_35450598_35524280 | 35458964 | ATCTTT | A | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0025 | a0003c0004t0007g0025 a0003c0004t0007g0026 a0003c0004t0007g0027 others(4): Show |
7 | 260 | 0.0269 | -5 | c.-22 others(22): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93703624 | ACTGTT | A | intron_variant | MODIFIER | HG01099.hp1 HG02165.hp1 HG03579.hp1 others(13): Show |
a0006a0009a0026 | a0006c0004a0006c0039a0009c0017others(1): Show | a0006c0004t0001a0006c0039t0001a0009c0017t0002others(1): Show | a0006c0004t0001g0002 a0006c0004t0001g0027 a0006c0004t0001g0029 others(10): Show |
16 | 354 | 0.0452 | -5 | c.559 others(22): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 179961554 | ATTGTT | A | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
a0002a0009 | a0002c0020a0009c0009 | a0002c0020t0019a0009c0009t0008 | a0002c0020t0019g0010 a0009c0009t0008g0007 a0009c0009t0008g0008 others(1): Show |
4 | 248 | 0.0161 | -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 | 179976350 | TAAAAG | T | intron_variant | MODIFIER | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(23): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0001a0002c0002t0003a0002c0007t0002others(2): Show | a0001c0001t0001g0241 a0002c0002t0003g0043 a0002c0002t0003g0044 others(23): Show |
26 | 248 | 0.1048 | -5 | c.-13 others(22): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180034157 | TTTGAG | T | intron_variant | MODIFIER | HG01891.hp2 NA18943.hp1 NA18961.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 a0001c0001t0001g0234 a0001c0001t0001g0235 others(1): Show |
4 | 248 | 0.0161 | -5 | c.394 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180036614 | TTTAAA | T | intron_variant | MODIFIER | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0059 a0002c0007t0002g0060 a0002c0007t0002g0061 others(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 |
a0002a0008a0009others(1): Show | a0002c0020a0008c0030a0009c0009others(1): Show | a0002c0020t0019a0008c0030t0010a0009c0009t0008others(1): Show | a0002c0020t0019g0010 a0008c0030t0010g0011 a0009c0009t0008g0007 others(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 |
a0010 | a0010c0010 | a0010c0010t0002 | a0010c0010t0002g0238 a0010c0010t0002g0239 a0010c0010t0002g0240 |
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 | a0001c0001t0001g0001 a0001c0001t0001g0219 a0001c0001t0001g0252 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0183 a0001c0001t0001g0219 others(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 | a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0010 others(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 | a0001c0001t0002g0086 a0001c0001t0002g0094 a0001c0001t0002g0096 others(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 | a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0011g0029 others(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 | a0002c0002t0015g0037 a0002c0002t0015g0038 a0002c0002t0015g0039 others(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 | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 others(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 | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 others(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 | a0001c0001t0028g0073 a0001c0001t0028g0074 a0001c0001t0063g0076 others(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 | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 others(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 | a0001c0001t0012g0218 a0001c0001t0012g0219 a0001c0001t0012g0220 others(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 | a0001c0001t0045g0088 a0001c0001t0053g0141 |
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 | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0044 others(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 | a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0082 others(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 | a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0233 others(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 |