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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPP_chr9_92320953_92625529 | 92449437 | CAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG01169.hp1 HG01257.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0073a0001c0001t0001g0106a0001c0001t0001g0107others(13): Show | 16 | 260 | 0.0615 | -5 | c.564 others(24): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92528547 | ACAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(95): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(19): Show | a0001c0001t0001g0015a0001c0001t0001g0135a0001c0001t0001g0137others(95): Show | 98 | 260 | 0.3769 | -5 | c.565 others(24): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92533303 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG02698.hp1 HG02735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0017 | a0001c0001t0007g0189a0001c0001t0007g0190a0001c0001t0007g0193others(5): Show | 8 | 260 | 0.0308 | -5 | c.565 others(24): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92537661 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01496.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0213others(1): Show | 4 | 260 | 0.0154 | -5 | c.565 others(24): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92543471 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG01169.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0047 | a0001c0001t0005g0021a0001c0001t0005g0022a0001c0001t0005g0023others(9): Show | 12 | 260 | 0.0462 | -5 | c.565 others(24): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92582030 | GTGTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG01358.hp1 HG01496.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0123others(13): Show | 16 | 260 | 0.0615 | -5 | c.565 others(24): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPQ_chr6_49458370_49498107 | 49488840 | GTAGTC | G | intron_variant | MODIFIER | HG02486.hp2 HG02970.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0086a0001c0001t0004g0087a0001c0001t0004g0088others(1): Show | 4 | 362 | 0.0111 | -5 | c.675 others(20): Show |
CENPQ | ENSG00000031691.7 | transcript | ENST00000335783.4 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CENPU_chr4_184689085_184739096 | 184692618 | ATTTTC | A | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01109.hp1 others(23): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0005others(2): Show | a0001c0001t0017a0003c0003t0003a0005c0005t0016others(2): Show | a0001c0001t0017g0149a0003c0003t0003g0026a0003c0003t0003g0027others(21): Show | 26 | 358 | 0.0726 | -5 | c.*26 others(16): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 1466 | chr4 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184726974 | TGGGGG | T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(46): Show |
a0003a0005a0006others(1): Show | a0003c0003a0003c0008a0005c0005others(3): Show | a0003c0003t0003a0003c0008t0004a0005c0005t0004others(4): Show | a0003c0003t0003g0026a0003c0003t0003g0027a0003c0003t0003g0245others(35): Show | 49 | 358 | 0.1369 | -5 | c.215 others(22): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 3/12 | chr4 | TogoVar | ||||||
CENPVL1_chrX_51705512_51717131 | 51706430 | TGAGAG | T | upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 238 | 0.0042 | -5 | c.-40 others(16): Show |
CENPVL1 | ENSG00000223591.5 | transcript | ENST00000602548.2 | protein_coding | 4081 | chrX | TogoVar | ||||||
CENPVL3_chrX_51612020_51623912 | 51623200 | AGACAG | A | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 298 | 0.0034 | -5 | c.-43 others(16): Show |
CENPVL3 | ENSG00000224109.4 | transcript | ENST00000417339.4 | protein_coding | 4289 | chrX | TogoVar | ||||||
CENPV_chr17_16337537_16358469 | 16346841 | TTTTTG | T | intron_variant | MODIFIER | NA18967.hp2 NA19007.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 3 | 356 | 0.0084 | -5 | c.579 others(22): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 3/4 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65675632 | TAAAAG | T | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01109.hp1 others(10): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(1): Show | a0001c0002t0001g0034a0001c0002t0001g0056a0001c0002t0001g0061others(10): Show | 13 | 112 | 0.1161 | -5 | c.269 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65716152 | TCTTTG | T | intron_variant | MODIFIER | HG02717.hp2 HG02976.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0020a0002c0001t0001g0066 | 2 | 112 | 0.0179 | -5 | c.260 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 23/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65735558 | CCTGAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00642.hp2 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0047others(44): Show | 47 | 112 | 0.4196 | -5 | c.260 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 23/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65821533 | TATATA | T | intron_variant | MODIFIER | HG03017.hp1 HG03688.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0060a0002c0001t0001g0026 | 2 | 112 | 0.0179 | -5 | c.239 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65821535 | TATATA | T | intron_variant | MODIFIER | HG01517.hp1 NA18986.hp1 NA20129.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0089a0001c0002t0001g0091a0001c0002t0001g0103others(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 | 65821536 | ATATAT | A | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00735.hp1 others(9): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0014a0001c0002t0001g0053a0001c0002t0001g0070others(9): Show | 12 | 112 | 0.1071 | -5 | c.239 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65821538 | ATATTT | A | intron_variant | MODIFIER | HG02027.hp2 HG03704.hp1 HG03834.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0002a0002c0001t0001 | a0001c0002t0001g0057a0001c0002t0001g0058a0001c0003t0002g0109others(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 |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(5): Show | a0001c0002t0001g0014a0001c0002t0001g0034a0001c0002t0001g0035others(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 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(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 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(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 |
a0001a0002a0004others(2): Show | a0001c0003a0002c0001a0002c0004others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(13): Show | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0009others(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 |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(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 |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0002c0004others(4): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(8): Show | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(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 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(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 | a0001c0001t0002g0181a0001c0001t0002g0182a0001c0001t0002g0189others(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 | a0001c0001t0001g0026a0001c0001t0001g0031a0001c0001t0001g0035others(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 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0034others(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 |
a0001a0003a0012 | a0001c0001a0003c0003a0012c0020 | a0001c0001t0002a0001c0001t0004a0003c0003t0002others(2): Show | a0001c0001t0002g0112a0001c0001t0004g0094a0001c0001t0004g0159others(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 | a0007c0010t0001g0057a0007c0010t0005g0056 | 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 | a0001c0001t0005g0009a0001c0014t0003g0151a0002c0002t0003g0068others(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 |
a0001a0030 | a0001c0001a0030c0039 | a0001c0001t0001a0030c0039t0001 | a0001c0001t0001g0198a0001c0001t0001g0199a0030c0039t0001g0251 | 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 |
a0001a0002a0007others(9): Show | a0001c0001a0001c0024a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0024t0001others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(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 | a0001c0005t0004g0005a0001c0005t0004g0085a0001c0005t0004g0086others(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 | a0002c0002t0002g0119a0002c0002t0002g0146a0002c0002t0002g0155 | 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 | a0001c0001t0002g0110a0001c0001t0002g0140a0001c0001t0002g0199others(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 | a0001c0001a0001c0010a0001c0023 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0002g0009a0001c0001t0002g0062a0001c0001t0002g0081others(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 | a0001c0001t0001g0094a0001c0001t0001g0115a0001c0001t0001g0116others(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 |
a0000a0001a0005others(10): Show | a0000c0035a0001c0002a0001c0033others(15): Show | a0000c0035t0001a0001c0002t0001a0001c0033t0001others(15): Show | a0000c0035t0001g0264a0001c0002t0001g0016a0001c0002t0001g0017others(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 | a0002c0001t0001g0342a0002c0001t0001g0343a0002c0001t0001g0360others(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 | a0001c0001t0004g0005a0001c0001t0004g0015a0001c0001t0004g0022others(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 | a0001c0001t0003g0002a0001c0001t0003g0003a0001c0001t0003g0022others(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 | a0001c0001t0002g0068a0001c0001t0006g0005a0001c0001t0006g0056others(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 | a0003c0004t0007g0025a0003c0004t0007g0026a0003c0004t0007g0027others(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 |
a0006a0009a0017 | a0006c0004a0006c0037a0009c0017others(1): Show | a0006c0004t0001a0006c0037t0001a0009c0017t0002others(1): Show | a0006c0004t0001g0002a0006c0004t0001g0027a0006c0004t0001g0029others(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 |
a0002a0008 | a0002c0020a0008c0009 | a0002c0020t0019a0008c0009t0008 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(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 | a0001c0001t0001g0241a0002c0002t0003g0043a0002c0002t0003g0044others(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 | a0001c0001t0001g0220a0001c0001t0001g0234a0001c0001t0001g0235others(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 |