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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0035 | 1 | 45 | 0.0222 | 20 | c.-61 others(41): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111576137 | T | TAACATAA others(13): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01123.hp1 HG01256.hp1 others(41): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0031 others(41): Show |
44 | 195 | 0.2256 | 20 | c.252 others(39): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588991 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18968.hp1 NA18994.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 a0002c0002t0001g0040 a0002c0002t0001g0041 others(2): Show |
5 | 28 | 0.1786 | 20 | c.251 others(37): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 | 1 | 78 | 0.0128 | 20 | c.251 others(37): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92071010 | C | CTGCTGCT others(13): Show |
frameshift_variant | HIGH | NA20905.hp1 | a0045 | a0045c0056 | a0045c0056t0001 | a0045c0056t0001g0312 | 1 | 102 | 0.0098 | 20 | c.915 others(27): Show |
p.Gly others(5): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | |||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0098 | 1 | 11 | 0.0909 | 20 | c.151 others(39): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105662027 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 105 | 0.0095 | 20 | c.578 others(37): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692403 | T | TTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0227 | 1 | 244 | 0.0041 | 20 | c.356 others(39): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692407 | T | TTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01346.hp1 others(16): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0011 a0001c0001t0001g0129 a0001c0001t0002g0033 others(16): Show |
19 | 235 | 0.0809 | 20 | c.356 others(39): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | NA19000.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0028 | a0001c0001t0011g0143 a0001c0001t0028g0007 |
2 | 69 | 0.0290 | 20 | c.355 others(39): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727777 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0074 a0001c0001t0005g0038 |
2 | 172 | 0.0116 | 20 | c.355 others(39): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105731748 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01256.hp1 HG02135.hp2 others(11): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0129 a0001c0001t0001g0155 others(11): Show |
14 | 65 | 0.2154 | 20 | c.355 others(39): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105733513 | T | TCCATCCA others(13): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0007 | a0007c0010 | a0007c0010t0027 | a0007c0010t0027g0204 | 1 | 250 | 0.0040 | 20 | c.355 others(39): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105790674 | A | ACTATCTA others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02572.hp1 HG02630.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0218 a0001c0001t0002g0201 a0001c0001t0007g0022 others(3): Show |
6 | 21 | 0.2857 | 20 | c.251 others(37): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214583 | T | TATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0041 | 1 | 426 | 0.0023 | 20 | c.-40 others(31): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4009 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0008 |
3 | 215 | 0.0140 | 20 | c.-41 others(31): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 214 | 0.0093 | 20 | c.-41 others(31): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57239587 | T | TAGAGAGA others(13): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(69): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0025 others(6): Show |
72 | 158 | 0.4557 | 20 | c.*41 others(31): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 4040 | chr19 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69598313 | G | GCGAGCGA others(13): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 76 | 0.0132 | 20 | c.-13 others(31): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 161 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69614314 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 34 | 0.0294 | 20 | c.309 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69870447 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03225.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0029a0002c0002t0036 | a0001c0001t0029g0022 a0002c0002t0036g0017 |
2 | 60 | 0.0333 | 20 | c.310 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69870448 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02630.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020 | a0001c0001t0001g0073 a0001c0001t0002g0062 a0001c0001t0020g0029 |
3 | 21 | 0.1429 | 20 | c.310 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69872834 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0031 | a0002c0002t0031g0007 | 1 | 24 | 0.0417 | 20 | c.310 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69888540 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029 | a0001c0001t0005g0012 a0001c0001t0029g0022 |
2 | 12 | 0.1667 | 20 | c.310 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70011314 | T | TCTCTCCT others(13): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 19 | 0.0526 | 20 | c.523 others(41): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70156891 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 14 | 0.0714 | 20 | c.660 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70245169 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0073 a0001c0001t0003g0072 |
2 | 51 | 0.0392 | 20 | c.660 others(41): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33899460 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01070.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0174 a0001c0001t0001g0214 a0003c0003t0003g0007 |
3 | 8 | 0.3750 | 20 | c.446 others(39): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933491 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0004c0005t0007 | a0002c0002t0001g0061 a0004c0005t0007g0265 |
2 | 221 | 0.0090 | 20 | c.446 others(39): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933524 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19081.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0111 a0002c0002t0001g0063 |
2 | 189 | 0.0106 | 20 | c.446 others(39): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933524 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG00741.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0134 a0001c0012t0001g0064 |
2 | 189 | 0.0106 | 20 | c.446 others(39): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933524 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 188 | 0.0053 | 20 | c.446 others(39): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933524 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 188 | 0.0053 | 20 | c.446 others(39): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32503319 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0118 | 1 | 312 | 0.0032 | 20 | c.93+ others(35): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32503367 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG01346.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0007a0001c0001t0008a0001c0001t0010others(5): Show | a0001c0001t0007g0259 a0001c0001t0008g0276 a0001c0001t0008g0295 others(6): Show |
9 | 103 | 0.0874 | 20 | c.93+ others(35): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32548144 | C | CTCTTTTT others(13): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0008 | a0001c0008t0094 | a0001c0008t0094g0054 | 1 | 321 | 0.0031 | 20 | c.301 others(35): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32548151 | C | CTTTTGTT others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01192.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0005 | a0001c0001t0022a0001c0001t0023a0001c0001t0031others(9): Show | a0001c0001t0022g0290 a0001c0001t0022g0293 a0001c0001t0022g0294 others(19): Show |
22 | 142 | 0.1549 | 20 | c.301 others(35): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32556519 | A | AAATAAAT others(13): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02071.hp1 HG02132.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0001g0183 a0001c0001t0003g0025 a0001c0001t0003g0026 others(6): Show |
9 | 66 | 0.1364 | 20 | c.609 others(37): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32566180 | A | ATCTTTTT others(13): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03225.hp2 NA19030.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0103others(3): Show | a0001c0001t0001g0040 a0001c0001t0003g0226 a0001c0001t0103g0240 others(3): Show |
6 | 63 | 0.0952 | 20 | c.121 others(39): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579574 | T | TATTATAT others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0033a0001c0002t0059 | a0001c0002t0033g0090 a0001c0002t0033g0091 a0001c0002t0059g0092 |
3 | 308 | 0.0097 | 20 | c.168 others(37): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678874 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0135 | 1 | 442 | 0.0023 | 20 | c.287 others(35): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678880 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01255.hp1 HG02280.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0111 a0001c0001t0002g0009 a0002c0002t0001g0010 others(6): Show |
10 | 180 | 0.0556 | 20 | c.287 others(35): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63138059 | C | CTCCCTCC others(13): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0024 | 1 | 215 | 0.0047 | 20 | c.*92 others(31): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4699 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63153330 | C | CTATCTAT others(13): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00609.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0056 | a0001c0001t0004g0004 a0001c0001t0004g0034 a0001c0001t0004g0035 others(11): Show |
38 | 441 | 0.0862 | 20 | c.-24 others(31): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 2130 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63153334 | C | CTATCTAT others(13): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG01433.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0031others(2): Show | a0001c0001t0005g0052 a0001c0001t0005g0100 a0001c0001t0010g0014 others(3): Show |
8 | 406 | 0.0197 | 20 | c.-24 others(31): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 2134 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63153338 | C | CTATCTAT others(13): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0099 | 1 | 446 | 0.0022 | 20 | c.-25 others(31): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 2138 | chr12 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179486139 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01515.hp2 HG01517.hp1 others(28): Show |
a0001a0002a0011others(1): Show | a0001c0002a0001c0007a0001c0011others(4): Show | a0001c0002t0001a0001c0007t0001a0001c0011t0001others(4): Show | a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 others(28): Show |
31 | 160 | 0.1938 | 20 | c.209 others(39): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179486139 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 130 | 0.0077 | 20 | c.209 others(39): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179488634 | C | CTTTTCTT others(13): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0022 | 1 | 168 | 0.0060 | 20 | c.209 others(39): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | chr1 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 320815 | C | CTACAACC others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(173): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(52): Show | a0001c0001t0001g0073 a0001c0001t0001g0090 a0001c0001t0001g0191 others(170): Show |
176 | 375 | 0.4693 | 20 | c.879 others(37): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar |