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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELSR1_chr22_46356174_46542620 | 46392748 | GAGTCTCA others(6): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01261.hp2 HG06807.hp2 others(2): Show |
a0003a0019a0030others(1): Show | a0003c0005a0019c0041a0030c0036others(1): Show | a0003c0005t0002a0019c0041t0010a0030c0036t0001others(1): Show | a0003c0005t0002g0036a0003c0005t0002g0065a0019c0041t0010g0068others(2): Show | 5 | 104 | 0.0481 | -13 | c.596 others(30): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 14/34 | chr22 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71732686 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01071.hp2 others(26): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0004a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0103a0001c0001t0001g0255a0001c0001t0001g0257others(25): Show | 29 | 320 | 0.0906 | -13 | c.139 others(30): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 6/23 | chr9 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80848953 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0008 | a0001c0001t0001g0089a0001c0005t0008g0187 | 2 | 254 | 0.0079 | -13 | c.-17 others(34): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CENATAC_chr11_118993138_119020793 | 119002224 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18971.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 2 | 318 | 0.0063 | -13 | c.383 others(30): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CENATAC_chr11_118993138_119020793 | 119017156 | AGGGTCCA others(6): Show |
A | downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 318 | 0.0031 | -13 | c.*15 others(24): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 1364 | chr11 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103177299 | TTCAGGGA others(6): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp1 others(49): Show |
a0003a0008 | a0003c0003a0008c0009 | a0003c0003t0001a0008c0009t0001 | a0003c0003t0001g0002a0003c0003t0001g0066a0003c0003t0001g0100others(47): Show | 52 | 320 | 0.1625 | -13 | c.124 others(30): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 13/48 | chr4 | TogoVar | ||||||
CENPF_chr1_214598195_214669571 | 214599516 | GTTTTTTT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02280.hp1 others(8): Show |
a0001a0006 | a0001c0001a0006c0007a0006c0030 | a0001c0001t0001a0006c0007t0002a0006c0030t0002 | a0001c0001t0001g0014a0006c0007t0002g0036a0006c0007t0002g0038others(8): Show | 11 | 282 | 0.0390 | -13 | c.-38 others(24): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3678 | chr1 | TogoVar | ||||||
CENPF_chr1_214598195_214669571 | 214616905 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0235 | 1 | 282 | 0.0036 | -13 | c.360 others(30): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CENPH_chr5_69184583_69215357 | 69200719 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG02145.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0170others(15): Show | 27 | 388 | 0.0696 | -13 | c.372 others(30): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CENPH_chr5_69184583_69215357 | 69212427 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(164): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(144): Show | 167 | 388 | 0.4304 | -13 | c.*26 others(24): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 2071 | chr5 | TogoVar | ||||||
CENPN_chr16_81002214_81036485 | 81025689 | CTCTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(189): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0003a0001c0010others(5): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(25): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0006others(87): Show | 192 | 398 | 0.4824 | -13 | c.698 others(28): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CENPO_chr2_24788425_24827376 | 24798975 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG04184.hp1 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0197a0001c0001t0005g0198 | 2 | 382 | 0.0052 | -13 | c.47- others(26): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CENPO_chr2_24788425_24827376 | 24825336 | GGGGGGGG others(6): Show |
G | downstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0176 | 1 | 382 | 0.0026 | -13 | c.*60 others(24): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 2961 | chr2 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92449437 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02056.hp1 HG02300.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0015a0001c0001t0001g0253a0001c0001t0008g0011others(2): Show | 5 | 260 | 0.0192 | -13 | c.564 others(32): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92525209 | TCAGGAGG others(6): Show |
T | intron_variant | MODIFIER | NA18951.hp1 NA18957.hp2 NA18962.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0034 | a0001c0001t0003g0140a0001c0001t0003g0158a0001c0001t0003g0168others(6): Show | 9 | 260 | 0.0346 | -13 | c.565 others(32): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92533317 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0217a0001c0001t0001g0218a0001c0001t0001g0221others(1): Show | 4 | 260 | 0.0154 | -13 | c.565 others(32): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92533319 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 260 | 0.0039 | -13 | c.565 others(32): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPU_chr4_184689085_184739096 | 184708222 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(48): Show |
a0003a0005a0006others(1): Show | a0003c0003a0003c0008a0005c0005others(3): Show | a0003c0003t0003a0003c0008t0004a0005c0005t0004others(4): Show | a0003c0003t0003g0026a0003c0003t0003g0027a0003c0003t0003g0245others(37): Show | 51 | 358 | 0.1425 | -13 | c.797 others(30): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
CENPVL2_chrX_51676212_51687831 | 51685830 | GTGTGTGT others(6): Show |
G | upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 237 | 0.0042 | -13 | c.-30 others(24): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 3000 | chrX | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65679129 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0011a0001c0002t0001g0080a0001c0003t0001g0042others(1): Show | 4 | 112 | 0.0357 | -13 | c.269 others(32): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65986676 | CATTATTT others(6): Show |
C | 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 | -13 | c.173 others(34): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65998403 | AAAGGAAA others(6): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0083 | 1 | 112 | 0.0089 | -13 | c.173 others(32): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66149875 | TTTTTGTT others(6): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01081.hp1 others(13): Show |
a0001a0002a0005 | a0001c0002a0002c0001a0002c0004others(1): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0003others(3): Show | a0001c0002t0001g0014a0001c0002t0001g0088a0001c0002t0001g0089others(13): Show | 16 | 112 | 0.1429 | -13 | c.471 others(32): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101985099 | GAGTCAGG others(6): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0031a0001c0001t0008g0034 | 2 | 336 | 0.0060 | -13 | c.303 others(32): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP128_chr14_80491479_80946738 | 80511184 | TATTAGTT others(6): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0050 | 1 | 164 | 0.0061 | -13 | c.307 others(32): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 23/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80801908 | CCCAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0050 | 1 | 164 | 0.0061 | -13 | c.121 others(32): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84159541 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0006 | a0006c0013 | a0006c0013t0002 | a0006c0013t0002g0113 | 1 | 214 | 0.0047 | -13 | c.278 others(32): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104860325 | GCTGTCCA others(6): Show |
G | upstream_gene_variant | MODIFIER | NA21309.hp2 | a0026 | a0026c0072 | a0026c0072t0002 | a0026c0072t0002g0165 | 1 | 328 | 0.0031 | -13 | c.-52 others(24): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 4942 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104862166 | CTCCACTG others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0048 | a0001c0048t0001 | a0001c0048t0001g0130 | 1 | 328 | 0.0031 | -13 | c.-33 others(24): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 3101 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104862296 | CTCCACTG others(6): Show |
C | upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 328 | 0.0031 | -13 | c.-32 others(24): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 2971 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104872364 | TGTGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0059 | a0001c0059t0001 | a0001c0059t0001g0075 | 1 | 328 | 0.0031 | -13 | c.105 others(30): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104892227 | TGACGAGG others(6): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 328 | 0.0031 | -13 | c.387 others(30): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP20_chr16_15860719_15893603 | 15890556 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 433 | 0.0023 | -13 | c.-19 others(24): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15891785 | CTTTCTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02723.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 2 | 433 | 0.0046 | -13 | c.-32 others(24): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 3183 | chr16 | TogoVar | ||||||
CEP250_chr20_35450598_35524280 | 35485645 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01175.hp1 HG01993.hp2 others(19): Show |
a0001a0014 | a0001c0003a0014c0026 | a0001c0003t0004a0001c0003t0008a0001c0003t0051others(2): Show | a0001c0003t0004g0018a0001c0003t0004g0019a0001c0003t0004g0020others(19): Show | 22 | 260 | 0.0846 | -13 | c.258 others(32): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CEP250_chr20_35450598_35524280 | 35486286 | TTGTACAA others(6): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
a0001a0005a0017 | a0001c0005a0001c0011a0005c0007others(1): Show | a0001c0005t0011a0001c0005t0065a0001c0011t0023others(5): Show | a0001c0005t0011g0141a0001c0005t0011g0142a0001c0005t0011g0143others(11): Show | 14 | 260 | 0.0539 | -13 | c.258 others(32): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CEP250_chr20_35450598_35524280 | 35521508 | TGGGAGAG others(6): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185a0001c0001t0001g0189 | 2 | 260 | 0.0077 | -13 | c.*98 others(24): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2229 | chr20 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93720114 | TCAGGAGG others(6): Show |
T | 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 | -13 | c.575 others(32): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP57_chr11_95785498_95837693 | 95827590 | TTTTCCAT others(6): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG02055.hp2 HG02109.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0006a0001c0001t0004g0012a0001c0001t0004g0023others(10): Show | 19 | 340 | 0.0559 | -13 | c.886 others(28): Show |
CEP57 | ENSG00000166037.11 | transcript | ENST00000325542.10 | protein_coding | 8/10 | chr11 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 610812 | TTGCACAC others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0012 | 1 | 91 | 0.0110 | -13 | c.-15 others(24): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1527 | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 648448 | GTGTGAGG others(6): Show |
G | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 91 | 0.0110 | -13 | c.177 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 648470 | GTGACTGT others(6): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02015.hp1 NA18948.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0006t0001g0012others(1): Show | 4 | 91 | 0.0440 | -13 | c.177 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 648511 | GGACTGTG others(6): Show |
G | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0005 | a0001c0001t0001a0003c0003t0002a0003c0005t0002 | a0001c0001t0001g0062a0001c0001t0001g0069a0003c0003t0002g0020others(5): Show | 8 | 91 | 0.0879 | -13 | c.177 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 648688 | CTGTGAGG others(6): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0058 | 2 | 91 | 0.0220 | -13 | c.177 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 648723 | GTGACTGT others(6): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(2): Show | a0001c0001t0001g0046a0002c0002t0001g0070a0002c0002t0001g0071others(22): Show | 25 | 91 | 0.2747 | -13 | c.177 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 648765 | GGACTGTG others(6): Show |
G | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 91 | 0.0110 | -13 | c.177 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 648845 | GGACTGTG others(6): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0045a0002c0002t0001g0070others(22): Show | 25 | 91 | 0.2747 | -13 | c.177 others(30): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 648909 | GGTGACTG others(6): Show |
G | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 91 | 0.0110 | -13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 649252 | GGACTGTG others(6): Show |
G | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 91 | 0.0110 | -13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 649357 | GGACTGTG others(6): Show |
G | intron_variant | MODIFIER | NA19010.hp1 NA20129.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0020a0003c0003t0002g0026 | 2 | 91 | 0.0220 | -13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |