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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS19_chr5_129455298_129743683 | 129600858 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(89): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(14): Show | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0029 others(89): Show |
92 | 169 | 0.5444 | -9 | c.147 others(28): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43405416 | TCTAATAA others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG04204.hp1 others(1): Show |
a0002a0017 | a0002c0004a0002c0020a0017c0028 | a0002c0004t0001a0002c0020t0001a0017c0028t0001 | a0002c0004t0001g0257 a0002c0004t0001g0264 a0002c0020t0001g0231 others(1): Show |
4 | 285 | 0.0140 | -9 | c.428 others(28): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43405417 | CTAATAAT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(83): Show |
a0001a0005a0006others(4): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(83): Show |
86 | 131 | 0.6565 | -9 | c.428 others(28): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43514560 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00639.hp2 others(67): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(67): Show |
70 | 73 | 0.9589 | -9 | c.614 others(28): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179173212 | TTAATAAT others(2): Show |
T | intron_variant | MODIFIER | HG02083.hp2 NA18983.hp1 NA18984.hp2 others(1): Show |
a0001a0002a0009 | a0001c0001a0002c0005a0009c0020 | a0001c0001t0002a0001c0001t0004a0002c0005t0003others(1): Show | a0001c0001t0002g0102 a0001c0001t0004g0091 a0002c0005t0003g0261 others(1): Show |
4 | 44 | 0.0909 | -9 | c.975 others(26): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 5/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179226246 | TTCTTTCT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0018others(14): Show | a0001c0001t0004a0001c0004t0002a0001c0004t0026others(16): Show | a0001c0001t0004g0027 a0001c0001t0004g0034 a0001c0004t0002g0162 others(20): Show |
23 | 274 | 0.0839 | -9 | c.689 others(28): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72373899 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02559.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0130 others(7): Show |
10 | 60 | 0.1667 | -9 | c.662 others(28): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72455851 | TTTATATA others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01891.hp1 others(5): Show |
a0001a0003a0007 | a0001c0001a0001c0003a0003c0008others(1): Show | a0001c0001t0001a0001c0001t0017a0001c0003t0001others(2): Show | a0001c0001t0001g0039 a0001c0001t0001g0132 a0001c0001t0001g0135 others(5): Show |
8 | 180 | 0.0444 | -9 | c.505 others(28): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72530729 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 HG02965.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(4): Show |
7 | 180 | 0.0389 | -9 | c.504 others(28): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72546759 | AGATTTTA others(2): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02965.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0002g0033 others(1): Show |
4 | 180 | 0.0222 | -9 | c.504 others(26): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72550042 | AGAGGAAG others(2): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02071.hp1 HG02523.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0065 |
3 | 163 | 0.0184 | -9 | c.98- others(24): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAMTS5_chr21_26912922_26972088 | 26951679 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG01069.hp2 others(44): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0001c0028others(4): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(17): Show | a0001c0001t0005g0183 a0001c0001t0005g0191 a0001c0001t0006g0008 others(36): Show |
47 | 131 | 0.3588 | -9 | c.123 others(28): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 2/7 | chr21 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65177703 | GCAATTAA others(2): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 a0001c0001t0001g0144 |
2 | 202 | 0.0099 | -9 | c.291 others(28): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 22/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65275213 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01074.hp1 others(60): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(60): Show |
63 | 75 | 0.8400 | -9 | c.151 others(28): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78806118 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG02056.hp2 others(5): Show |
a0006a0010a0048 | a0006c0007a0006c0119a0010c0013others(1): Show | a0006c0007t0001a0006c0119t0001a0010c0013t0003others(1): Show | a0006c0007t0001g0157 a0006c0007t0001g0158 a0006c0007t0001g0237 others(5): Show |
8 | 376 | 0.0213 | -9 | c.100 others(26): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | |||||||
ADAMTS8_chr11_130399923_130433609 | 130411758 | GTGGCCTG others(2): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00673.hp1 others(73): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0001c0030others(8): Show | a0001c0001t0005a0001c0010t0001a0001c0010t0005others(12): Show | a0001c0001t0005g0020 a0001c0001t0005g0022 a0001c0001t0005g0023 others(57): Show |
76 | 422 | 0.1801 | -9 | c.156 others(26): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 5/8 | chr11 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64593958 | ATGATGTG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG01123.hp1 others(48): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0004a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0108 others(48): Show |
51 | 236 | 0.2161 | -9 | c.435 others(26): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 28/39 | chr3 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18509190 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01175.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0005a0001c0039others(8): Show | a0001c0003t0005a0001c0005t0002a0001c0039t0001others(11): Show | a0001c0003t0005g0211 a0001c0005t0002g0022 a0001c0039t0001g0206 others(13): Show |
16 | 52 | 0.3077 | -9 | c.191 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18800377 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01081.hp2 others(25): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0006a0001c0007others(13): Show | a0001c0002t0002a0001c0006t0003a0001c0006t0005others(21): Show | a0001c0002t0002g0128 a0001c0006t0003g0129 a0001c0006t0005g0042 others(25): Show |
28 | 107 | 0.2617 | -9 | c.380 others(28): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18828661 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02723.hp1 |
a0001 | a0001c0006a0001c0010 | a0001c0006t0002a0001c0010t0002 | a0001c0006t0002g0154 a0001c0010t0002g0067 |
2 | 175 | 0.0114 | -9 | c.411 others(28): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 22/28 | chr9 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18904633 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00642.hp1 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0005others(9): Show | a0001c0002t0008a0001c0003t0001a0001c0003t0015others(11): Show | a0001c0002t0008g0086 a0001c0003t0001g0181 a0001c0003t0015g0188 others(13): Show |
16 | 35 | 0.4571 | -9 | c.485 others(28): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133539653 | ACGGCTGT others(2): Show |
A | intron_variant | MODIFIER | HG03453.hp1 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0004a0002c0009t0001 | a0001c0001t0004g0150 a0002c0009t0001g0149 |
2 | 12 | 0.1667 | -9 | c.310 others(22): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83669453 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(55): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0002c0008others(22): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(24): Show | a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0083 others(55): Show |
58 | 62 | 0.9355 | -9 | c.69+ others(26): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83823884 | TTCTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02257.hp1 others(10): Show |
a0002a0007a0042others(1): Show | a0002c0002a0007c0007a0042c0040others(1): Show | a0002c0002t0001a0002c0002t0003a0007c0007t0001others(3): Show | a0002c0002t0001g0072 a0002c0002t0001g0158 a0002c0002t0001g0159 others(10): Show |
13 | 272 | 0.0478 | -9 | c.600 others(26): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83823893 | CTCTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01192.hp1 HG01516.hp1 others(5): Show |
a0001a0005a0025others(3): Show | a0001c0001a0005c0006a0005c0017others(4): Show | a0001c0001t0001a0005c0006t0001a0005c0017t0001others(4): Show | a0001c0001t0001g0107 a0005c0006t0001g0152 a0005c0006t0001g0155 others(5): Show |
8 | 132 | 0.0606 | -9 | c.600 others(26): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83823966 | TCTTCTTC others(2): Show |
T | intron_variant | MODIFIER | HG01952.hp1 HG02135.hp2 NA18954.hp2 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0004 a0004c0004t0001g0085 a0004c0004t0001g0248 others(1): Show |
4 | 211 | 0.0190 | -9 | c.600 others(26): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83878792 | TTTTCAGG others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(198): Show |
a0001a0002a0004others(25): Show | a0001c0001a0001c0015a0001c0057others(45): Show | a0001c0001t0001a0001c0001t0006a0001c0015t0001others(51): Show | a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0053 others(198): Show |
201 | 272 | 0.7390 | -9 | c.961 others(26): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83906615 | CCACACAC others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 NA19063.hp2 NA19083.hp1 |
a0002 | a0002c0002a0002c0020 | a0002c0002t0001a0002c0020t0001 | a0002c0002t0001g0012 a0002c0002t0001g0201 a0002c0020t0001g0164 |
3 | 77 | 0.0390 | -9 | c.170 others(28): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL4_chr1_150544408_150565933 | 150554874 | CACCGGGA others(2): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02145.hp1 HG02622.hp1 others(5): Show |
a0002a0004 | a0002c0005a0002c0054a0004c0013others(2): Show | a0002c0005t0010a0002c0054t0005a0004c0013t0001others(3): Show | a0002c0005t0010g0063 a0002c0054t0005g0095 a0004c0013t0001g0023 others(4): Show |
8 | 438 | 0.0183 | -9 | c.123 others(26): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADAP2_chr17_30916945_30964322 | 30919464 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01071.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0163 a0001c0001t0001g0230 others(34): Show |
41 | 193 | 0.2124 | -9 | c.-25 others(20): Show |
ADAP2 | ENSG00000184060.11 | transcript | ENST00000330889.8 | protein_coding | 2480 | chr17 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45186799 | TTCCCCTT others(2): Show |
T | intron_variant | MODIFIER | HG01943.hp1 HG01978.hp2 NA18951.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0107 | a0001c0002t0004g0139 a0001c0002t0004g0140 a0001c0002t0107g0138 |
3 | 348 | 0.0086 | -9 | c.156 others(28): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | chr21 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1214377 | GCCTGGAC others(2): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG01884.hp2 others(18): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(14): Show | a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0078 others(18): Show |
21 | 106 | 0.1981 | -9 | c.168 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1220288 | GTGGTGGT others(2): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02258.hp2 NA19043.hp2 |
a0002a0003 | a0002c0002a0002c0004a0003c0006 | a0002c0002t0005a0002c0004t0005a0003c0006t0067 | a0002c0002t0005g0028 a0002c0004t0005g0029 a0003c0006t0067g0080 |
3 | 106 | 0.0283 | -9 | c.151 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 6/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1235765 | CAAAGAGC others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG03017.hp2 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0008 | a0002c0002t0005g0033 a0002c0002t0008g0047 |
2 | 101 | 0.0198 | -9 | c.136 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1235782 | AGGCGAGA others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG03017.hp2 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0008 | a0002c0002t0005g0033 a0002c0002t0008g0047 |
2 | 104 | 0.0192 | -9 | c.136 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1236121 | TGTTGCAA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG02257.hp2 HG03017.hp2 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0007a0002c0002t0008 | a0002c0002t0005g0033 a0002c0002t0007g0001 a0002c0002t0008g0047 |
3 | 106 | 0.0283 | -9 | c.136 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1236493 | TGTTGCAA others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02615.hp1 HG03017.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0010a0001c0003t0001a0002c0002t0004others(2): Show | a0001c0001t0010g0013 a0001c0003t0001g0052 a0002c0002t0004g0096 others(2): Show |
5 | 106 | 0.0472 | -9 | c.136 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1262287 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02965.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0025a0001c0001t0050a0001c0003t0040others(4): Show | a0001c0001t0025g0036 a0001c0001t0050g0077 a0001c0003t0040g0073 others(4): Show |
7 | 33 | 0.2121 | -9 | c.119 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1329929 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG02897.hp1 HG03209.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0001g0065 a0001c0001t0003g0098 a0001c0001t0012g0024 others(1): Show |
4 | 19 | 0.2105 | -9 | c.107 others(30): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1619300 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02897.hp1 NA19043.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0011a0001c0001t0012a0001c0003t0045others(1): Show | a0001c0001t0011g0026 a0001c0001t0012g0024 a0001c0003t0045g0057 others(1): Show |
4 | 106 | 0.0377 | -9 | c.100 others(30): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1620522 | ATGGTGTC others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02257.hp1 others(10): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0050a0001c0001t0051others(10): Show | a0001c0001t0001g0045 a0001c0001t0050g0077 a0001c0001t0051g0051 others(10): Show |
13 | 106 | 0.1226 | -9 | c.100 others(30): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75596553 | CTACAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(112): Show |
a0002a0006a0008 | a0002c0002a0002c0010a0006c0009others(1): Show | a0002c0002t0001a0002c0002t0013a0002c0002t0018others(19): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0011 others(92): Show |
115 | 346 | 0.3324 | -9 | c.*36 others(20): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 314 | chr16 | TogoVar | |||||||
ADAT2_chr6_143417832_143455695 | 143419453 | TACCTTCC others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02809.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0020a0002c0002t0036a0002c0002t0037others(6): Show | a0002c0002t0020g0072 a0002c0002t0020g0074 a0002c0002t0020g0078 others(11): Show |
14 | 320 | 0.0438 | -9 | c.*90 others(20): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 3378 | chr6 | TogoVar | |||||||
ADAT2_chr6_143417832_143455695 | 143455359 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02647.hp1 HG02818.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0001c0001t0123a0001c0001t0162others(1): Show | a0001c0001t0016g0009 a0001c0001t0016g0249 a0001c0001t0123g0060 others(2): Show |
7 | 50 | 0.1400 | -9 | c.-47 others(20): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 4665 | chr6 | TogoVar | |||||||
ADCK1_chr14_77795109_77940014 | 77805252 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0079 others(5): Show |
8 | 138 | 0.0580 | -9 | c.-12 others(26): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77886934 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02735.hp2 HG02886.hp2 others(5): Show |
a0001a0003 | a0001c0003a0001c0005a0001c0012others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(4): Show | a0001c0003t0001g0044 a0001c0003t0002g0011 a0001c0003t0005g0001 others(5): Show |
8 | 280 | 0.0286 | -9 | c.424 others(24): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 4/10 | chr14 | TogoVar | |||||||
ADCK5_chr8_144369047_144398242 | 144369453 | AAATAATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01361.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0167 |
3 | 21 | 0.1429 | -9 | c.-46 others(20): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 4593 | chr8 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167819247 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02559.hp1 others(11): Show |
a0001a0002a0014others(1): Show | a0001c0004a0002c0001a0002c0007others(2): Show | a0001c0004t0002a0002c0001t0002a0002c0007t0002others(2): Show | a0001c0004t0002g0044 a0001c0004t0002g0202 a0001c0004t0002g0278 others(11): Show |
14 | 200 | 0.0700 | -9 | c.428 others(26): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 30/32 | chr1 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167840677 | CTCATTTT others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02896.hp1 HG03195.hp1 others(3): Show |
a0002a0013 | a0002c0001a0002c0031a0002c0047others(1): Show | a0002c0001t0002a0002c0031t0002a0002c0047t0002others(1): Show | a0002c0001t0002g0018 a0002c0001t0002g0022 a0002c0001t0002g0267 others(3): Show |
6 | 324 | 0.0185 | -9 | c.300 others(28): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 21/32 | chr1 | TogoVar | |||||||
ADCY2_chr5_7391138_7835081 | 7538856 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00639.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(18): Show | a0001c0001t0001g0079 a0001c0001t0002g0056 a0001c0001t0007g0102 others(25): Show |
28 | 138 | 0.2029 | -9 | c.570 others(28): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |