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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7L1_chr7_105599772_105881599 | 105710401 | CTTTTTTT | C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02280.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0075 a0001c0001t0001g0144 a0001c0001t0001g0202 others(10): Show |
13 | 46 | 0.2826 | -7 | c.356 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105724573 | CAAAAAAA | C | intron_variant | MODIFIER | HG00673.hp2 HG01167.hp2 HG01169.hp2 others(19): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0119 a0001c0001t0001g0129 others(19): Show |
22 | 70 | 0.3143 | -7 | c.356 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105820126 | CAAAAAAA | C | intron_variant | MODIFIER | HG02738.hp1 HG02896.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0145 a0001c0001t0004g0246 a0001c0001t0006g0248 others(3): Show |
6 | 60 | 0.1000 | -7 | c.251 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105845204 | CAAAAAAA | C | intron_variant | MODIFIER | HG01978.hp2 HG02083.hp2 HG02132.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0039others(1): Show | a0001c0001t0002g0026 a0001c0001t0002g0078 a0001c0001t0002g0106 others(4): Show |
7 | 41 | 0.1707 | -7 | c.250 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74536670 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(90): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0016a0001c0001t0029others(10): Show | a0001c0001t0002g0000 a0001c0001t0016g0000 a0001c0001t0029g0000 others(10): Show |
93 | 94 | 0.9894 | -7 | c.-14 others(18): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63928324 | CTTATATA | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01993.hp2 others(34): Show |
a0003a0009a0014others(4): Show | a0003c0004a0003c0005a0003c0026others(6): Show | a0003c0004t0003a0003c0004t0016a0003c0005t0003others(7): Show | a0003c0004t0003g0160 a0003c0004t0003g0167 a0003c0004t0003g0168 others(34): Show |
37 | 298 | 0.1242 | -7 | c.394 others(26): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91251812 | TGGTAAGG | T | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01175.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0071 a0001c0002t0001g0011 a0001c0002t0001g0016 others(22): Show |
26 | 356 | 0.0730 | -7 | c.656 others(26): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AURKAIP1_chr1_1368736_1380207 | 1370965 | TCAGGCCC | T | downstream_gene_variant | MODIFIER | HG01123.hp2 HG02965.hp2 HG02970.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0004 a0001c0001t0001g0019 a0005c0006t0001g0013 |
7 | 356 | 0.0197 | -7 | c.*28 others(18): Show |
AURKAIP1 | ENSG00000175756.14 | transcript | ENST00000338338.10 | protein_coding | 2770 | chr1 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8207454 | TCCTCCGC | T | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp2 HG03139.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 | 5 | 426 | 0.0117 | -7 | c.207 others(20): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69670555 | CAAAAAAA | C | intron_variant | MODIFIER | HG01175.hp2 HG01952.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029a0001c0001t0035 | a0001c0001t0005g0005 a0001c0001t0005g0020 a0001c0001t0029g0022 others(1): Show |
4 | 10 | 0.4000 | -7 | c.309 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69850398 | CAAAAAAA | C | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp1 HG03239.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0003g0035 others(4): Show |
7 | 9 | 0.7778 | -7 | c.310 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69922064 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068 |
3 | 76 | 0.0395 | -7 | c.522 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70117110 | TTTTTTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0018others(9): Show | a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 others(14): Show |
17 | 76 | 0.2237 | -7 | c.523 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70156891 | TAAAAAAA | T | intron_variant | MODIFIER | HG01175.hp2 HG02055.hp2 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0029a0001c0001t0035others(3): Show | a0001c0001t0001g0032 a0001c0001t0029g0022 a0001c0001t0035g0019 others(3): Show |
6 | 19 | 0.3158 | -7 | c.660 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70245132 | AAGTGTGT | A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01934.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068 others(2): Show |
5 | 60 | 0.0833 | -7 | c.660 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70439538 | CAAAAAAA | C | intron_variant | MODIFIER | HG01952.hp2 HG02165.hp2 HG04199.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0034 a0001c0001t0003g0033 a0001c0001t0005g0005 others(2): Show |
5 | 60 | 0.0833 | -7 | c.690 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70485994 | AAATAAAT | A | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02647.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0025others(8): Show | a0001c0001t0005g0020 a0001c0001t0009g0006 a0001c0001t0009g0008 others(9): Show |
12 | 76 | 0.1579 | -7 | c.690 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70724443 | CTTTTTTT | C | intron_variant | MODIFIER | HG01433.hp1 HG02630.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0025 | a0001c0001t0001g0032 a0001c0001t0001g0074 a0001c0001t0020g0029 others(1): Show |
4 | 32 | 0.1250 | -7 | c.742 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70739003 | CTTTTTTT | C | intron_variant | MODIFIER | HG01952.hp2 HG02257.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0073 a0001c0001t0005g0005 a0001c0001t0006g0010 others(2): Show |
5 | 8 | 0.6250 | -7 | c.743 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33878454 | TAGGCTAG | T | intron_variant | MODIFIER | HG01081.hp2 HG01346.hp1 HG02258.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0003a0004c0004t0001 | a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 others(9): Show |
12 | 264 | 0.0455 | -7 | c.446 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33899460 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp2 HG01071.hp1 others(14): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0003others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0038 others(14): Show |
17 | 22 | 0.7727 | -7 | c.446 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33962919 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG02109.hp1 HG02559.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 others(5): Show |
8 | 13 | 0.6154 | -7 | c.445 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33968099 | TAAAAAAA | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01884.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0007 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 others(4): Show |
7 | 27 | 0.2593 | -7 | c.445 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34014384 | ACAAAAAC | A | intron_variant | MODIFIER | HG03041.hp2 HG03927.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0070 a0001c0001t0001g0078 |
3 | 247 | 0.0121 | -7 | c.268 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34029517 | CAAAAAAA | C | intron_variant | MODIFIER | HG02132.hp1 HG02258.hp2 NA18951.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0104 a0001c0001t0001g0155 a0001c0001t0002g0156 others(2): Show |
5 | 28 | 0.1786 | -7 | c.267 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32540871 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00621.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(32): Show | a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0196 others(46): Show |
49 | 50 | 0.9800 | -7 | c.94- others(22): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32546830 | AAAAAAAT | A | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
a0002 | a0002c0005 | a0002c0005t0021a0002c0005t0048a0002c0005t0049others(4): Show | a0002c0005t0021g0314 a0002c0005t0021g0319 a0002c0005t0048g0320 others(5): Show |
8 | 328 | 0.0244 | -7 | c.301 others(24): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579297 | ATATATAT | A | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG02486.hp1 others(6): Show |
a0001a0002 | a0001c0007a0002c0003 | a0001c0007t0014a0002c0003t0009a0002c0003t0063others(1): Show | a0001c0007t0014g0057 a0001c0007t0014g0058 a0001c0007t0014g0299 others(6): Show |
9 | 328 | 0.0274 | -7 | c.168 others(24): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32581046 | AAAATTCC | A | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG01258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0023a0001c0001t0031others(1): Show | a0001c0001t0022g0290 a0001c0001t0022g0293 a0001c0001t0022g0294 others(6): Show |
9 | 328 | 0.0274 | -7 | c.183 others(24): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32582369 | GAGAGAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(97): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(31): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 others(97): Show |
100 | 328 | 0.3049 | -7 | c.183 others(26): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 15/15 | chr7 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678922 | TGTGTGTG | T | intron_variant | MODIFIER | HG01361.hp1 HG01943.hp2 HG02071.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0092 a0001c0001t0001g0094 others(2): Show |
19 | 429 | 0.0443 | -7 | c.287 others(22): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179421682 | CTTTATCT | C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02572.hp2 others(8): Show |
a0001a0017 | a0001c0007a0017c0028 | a0001c0007t0001a0017c0028t0001 | a0001c0007t0001g0080 a0001c0007t0001g0182 a0001c0007t0001g0185 others(8): Show |
11 | 354 | 0.0311 | -7 | c.123 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179422261 | TAACAATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(187): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0006a0001c0007others(18): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(18): Show | a0001c0002t0001g0206 a0001c0002t0001g0226 a0001c0002t0001g0235 others(186): Show |
190 | 354 | 0.5367 | -7 | c.123 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179459891 | TTTCTTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(103): Show |
a0001a0002a0006others(6): Show | a0001c0002a0001c0007a0001c0011others(9): Show | a0001c0002t0001a0001c0007t0001a0001c0011t0001others(9): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(103): Show |
106 | 354 | 0.2994 | -7 | c.179 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179487995 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
a0001a0002a0004others(7): Show | a0001c0002a0001c0006a0001c0007others(15): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(15): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(193): Show |
197 | 312 | 0.6314 | -7 | c.209 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179488634 | CCTTTCTT | C | intron_variant | MODIFIER | HG00423.hp2 HG01099.hp2 HG01975.hp2 others(16): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0001a0005c0008others(1): Show | a0001c0002t0001a0002c0001t0001a0005c0008t0001others(1): Show | a0001c0002t0001g0235 a0002c0001t0001g0006 a0002c0001t0001g0156 others(16): Show |
19 | 186 | 0.1022 | -7 | c.209 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | chr1 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65525422 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01175.hp2 HG01361.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0001 | a0001c0002t0001a0001c0005t0001a0002c0001t0002others(1): Show | a0001c0002t0001g0268 a0001c0005t0001g0184 a0002c0001t0002g0001 others(6): Show |
9 | 155 | 0.0581 | -7 | c.*45 others(18): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 3140 | chr17 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65538667 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00597.hp2 others(35): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0016a0001c0003t0001others(6): Show | a0001c0002t0001g0050 a0001c0002t0001g0066 a0001c0002t0001g0091 others(24): Show |
38 | 54 | 0.7037 | -7 | c.106 others(24): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
AZGP1_chr7_99961730_99981031 | 99970235 | TTTTTTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(210): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(46): Show |
213 | 430 | 0.4953 | -7 | c.337 others(24): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474970 | TATATATA | T | intron_variant | MODIFIER | HG02135.hp1 HG03704.hp2 NA18944.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0030 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0015 others(4): Show |
8 | 335 | 0.0239 | -7 | c.652 others(24): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474972 | TATATATA | T | intron_variant | MODIFIER | HG01167.hp2 HG02083.hp2 HG03017.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0072 a0001c0001t0002g0077 others(2): Show |
6 | 326 | 0.0184 | -7 | c.652 others(24): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474974 | TATATATA | T | intron_variant | MODIFIER | HG01106.hp1 HG02258.hp2 HG02523.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0019 | a0001c0001t0002g0017 a0001c0001t0004g0237 a0001c0001t0004g0249 others(4): Show |
7 | 335 | 0.0209 | -7 | c.652 others(24): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474976 | TATATATA | T | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023 | a0001c0001t0004g0238 a0001c0001t0023g0232 a0001c0001t0023g0233 |
3 | 341 | 0.0088 | -7 | c.652 others(24): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474980 | TATATATA | T | intron_variant | MODIFIER | HG02451.hp2 HG03490.hp2 HG03831.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0026a0001c0002t0063 | a0001c0002t0006g0325 a0001c0002t0026g0315 a0001c0002t0026g0324 others(1): Show |
4 | 342 | 0.0117 | -7 | c.652 others(24): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474983 | ATATATTT | A | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01243.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006a0001c0002t0008others(1): Show | a0001c0002t0003g0263 a0001c0002t0003g0267 a0001c0002t0003g0269 others(8): Show |
11 | 207 | 0.0531 | -7 | c.652 others(24): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235480905 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0093 a0001c0001t0001g0110 others(30): Show |
34 | 44 | 0.7727 | -7 | c.556 others(22): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235498843 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01071.hp1 HG01099.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023a0001c0001t0043others(2): Show | a0001c0001t0004g0204 a0001c0001t0004g0231 a0001c0001t0004g0235 others(18): Show |
21 | 45 | 0.4667 | -7 | c.113 others(24): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167352273 | TTTTTTTG | T | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG00738.hp1 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0079 a0001c0001t0001g0105 a0001c0001t0001g0108 others(25): Show |
28 | 116 | 0.2414 | -7 | c.-51 others(28): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167435433 | CAAAAAAA | C | intron_variant | MODIFIER | HG01255.hp1 HG02738.hp1 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0023 | a0001c0001t0003g0002 a0001c0001t0003g0030 a0001c0001t0009g0031 others(1): Show |
4 | 48 | 0.0833 | -7 | c.-51 others(28): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167507504 | CAAAAAAA | C | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0016others(1): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0012g0050 others(2): Show |
5 | 64 | 0.0781 | -7 | c.-41 others(28): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |