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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS20_chr12_43348866_43557203 | 43528348 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 NA18945.hp1 others(4): Show |
a0001a0015 | a0001c0001a0015c0018 | a0001c0001t0001a0001c0001t0003a0015c0018t0001 | a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0234 others(4): Show |
7 | 39 | 0.1795 | 9 | c.613 others(26): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179173212 | T | TTAATAAT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0039a0002c0097 | a0001c0001t0013a0002c0039t0002a0002c0097t0021 | a0001c0001t0013g0019 a0002c0039t0002g0204 a0002c0097t0021g0227 |
3 | 43 | 0.0698 | 9 | c.975 others(26): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 5/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179205757 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0014others(62): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(82): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(127): Show |
130 | 199 | 0.6533 | 9 | c.891 others(26): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179283549 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01934.hp2 HG02280.hp1 others(4): Show |
a0001a0002a0003 | a0001c0004a0001c0014a0002c0006others(4): Show | a0001c0004t0004a0001c0014t0002a0002c0006t0004others(4): Show | a0001c0004t0004g0187 a0001c0014t0002g0072 a0002c0006t0004g0228 others(4): Show |
7 | 46 | 0.1522 | 9 | c.535 others(28): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179283942 | G | GATTATTA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01934.hp2 HG02723.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0070a0002c0006a0003c0007others(3): Show | a0001c0070t0001a0002c0006t0004a0003c0007t0002others(3): Show | a0001c0070t0001g0081 a0002c0006t0004g0228 a0003c0007t0002g0039 others(3): Show |
6 | 118 | 0.0508 | 9 | c.535 others(28): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179329354 | C | CCCAGAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01496.hp2 HG02109.hp2 others(1): Show |
a0001a0003a0005 | a0001c0001a0001c0072a0003c0028others(1): Show | a0001c0001t0004a0001c0072t0002a0003c0028t0002others(1): Show | a0001c0001t0004g0111 a0001c0072t0002g0108 a0003c0028t0002g0110 others(1): Show |
4 | 274 | 0.0146 | 9 | c.534 others(28): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179345240 | G | GGCGGCAG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00639.hp1 HG01167.hp2 HG03453.hp2 |
a0010 | a0010c0085a0010c0086a0010c0087 | a0010c0085t0002a0010c0086t0004a0010c0087t0001 | a0010c0085t0002g0202 a0010c0086t0004g0201 a0010c0087t0001g0200 |
3 | 274 | 0.0109 | 9 | c.80_ others(14): Show |
p.Leu others(11): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 1/22 | 221/6783 | 88/3636 | 30/1211 | chr5 | TogoVar | |||
ADAMTS3_chr4_72275969_72574221 | 72456072 | A | ATATATAC others(2): Show |
intron_variant | MODIFIER | NA18965.hp2 NA18974.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0173 a0002c0002t0002g0077 |
2 | 178 | 0.0112 | 9 | c.505 others(28): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456132 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02622.hp2 others(10): Show |
a0001a0003a0009 | a0001c0001a0001c0006a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0028 others(10): Show |
13 | 65 | 0.2000 | 9 | c.505 others(28): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72550005 | A | AAGGAGAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01928.hp2 NA19060.hp1 others(1): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0001t0002a0001c0017t0001 | a0001c0001t0001g0140 a0001c0001t0001g0156 a0001c0001t0002g0145 others(1): Show |
4 | 176 | 0.0227 | 9 | c.98- others(24): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65196522 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02071.hp1 HG02895.hp1 others(7): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0007 | a0001c0001t0001a0001c0001t0017a0001c0002t0005others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0050 others(7): Show |
10 | 46 | 0.2174 | 9 | c.270 others(26): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 21/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65398796 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG01952.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0164 |
2 | 202 | 0.0099 | 9 | c.107 others(30): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18655806 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG01358.hp2 others(3): Show |
a0001a0002a0006 | a0001c0002a0001c0005a0001c0007others(2): Show | a0001c0002t0003a0001c0005t0002a0001c0005t0004others(3): Show | a0001c0002t0003g0156 a0001c0005t0002g0149 a0001c0005t0004g0020 others(3): Show |
6 | 9 | 0.6667 | 9 | c.835 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18681697 | T | TGTGTTGG others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp2 others(25): Show |
a0001a0002a0003others(5): Show | a0001c0007a0001c0008a0001c0010others(14): Show | a0001c0007t0001a0001c0007t0004a0001c0008t0002others(20): Show | a0001c0007t0001g0170 a0001c0007t0001g0172 a0001c0007t0004g0171 others(25): Show |
28 | 68 | 0.4118 | 9 | c.134 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18696865 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01993.hp1 HG02027.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0005others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0011others(11): Show | a0001c0002t0001g0090 a0001c0002t0002g0063 a0001c0002t0011g0153 others(12): Show |
15 | 21 | 0.7143 | 9 | c.157 others(28): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18828660 | T | TTTATATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp2 others(17): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0003a0001c0005others(13): Show | a0001c0002t0004a0001c0003t0002a0001c0003t0029others(16): Show | a0001c0002t0004g0080 a0001c0003t0002g0126 a0001c0003t0029g0025 others(17): Show |
20 | 83 | 0.2410 | 9 | c.411 others(28): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18878244 | C | CCTGTCGT others(2): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02698.hp2 HG03704.hp1 others(1): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0002c0004others(1): Show | a0001c0002t0008a0001c0003t0015a0002c0004t0008others(1): Show | a0001c0002t0008g0086 a0001c0003t0015g0188 a0002c0004t0008g0089 others(1): Show |
4 | 216 | 0.0185 | 9 | c.425 others(28): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133539653 | A | ACGGCTGT others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01255.hp1 HG01255.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0132 others(8): Show |
11 | 21 | 0.5238 | 9 | c.310 others(22): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133564001 | G | GGGAGAGA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00738.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0033a0002c0018 | a0001c0001t0001a0001c0033t0015a0002c0018t0003 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(5): Show |
8 | 148 | 0.0541 | 9 | c.174 others(28): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | chr9 | TogoVar | |||||||
ADAMTSL3_chr15_83649123_84044842 | 83793459 | G | GTGTTGTT others(2): Show |
intron_variant | MODIFIER | HG02004.hp1 HG03017.hp2 HG03130.hp1 others(2): Show |
a0001a0004a0008 | a0001c0001a0004c0004a0008c0010 | a0001c0001t0001a0004c0004t0001a0008c0010t0001 | a0001c0001t0001g0067 a0001c0001t0001g0070 a0004c0004t0001g0257 others(2): Show |
5 | 112 | 0.0446 | 9 | c.318 others(28): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83823972 | T | TCTCCTCC others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03540.hp1 NA18985.hp2 |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0001a0007c0007t0001 | a0003c0003t0001g0230 a0003c0003t0001g0246 a0007c0007t0001g0160 |
3 | 108 | 0.0278 | 9 | c.600 others(26): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL5_chr19_1500022_1518019 | 1509666 | A | AAAGGGAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(235): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(144): Show |
238 | 348 | 0.6839 | 9 | c.361 others(24): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 5/11 | chr19 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45102799 | C | CATCTGCT others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0008a0001c0003t0095 | a0001c0002t0008g0036 a0001c0002t0008g0037 a0001c0002t0008g0038 others(1): Show |
4 | 348 | 0.0115 | 9 | c.-21 others(30): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1262287 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01243.hp2 HG02886.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0012a0001c0001t0015a0001c0001t0019others(6): Show | a0001c0001t0012g0024 a0001c0001t0015g0005 a0001c0001t0019g0038 others(7): Show |
10 | 36 | 0.2778 | 9 | c.119 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1314443 | T | TTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG02055.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0029a0002c0002t0002a0002c0002t0005others(2): Show | a0001c0001t0029g0031 a0002c0002t0002g0043 a0002c0002t0002g0067 others(4): Show |
7 | 67 | 0.1045 | 9 | c.107 others(30): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADAR_chr1_154577057_154613186 | 154610808 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01433.hp2 others(7): Show |
a0002a0003a0004 | a0002c0002a0003c0004a0004c0005 | a0002c0002t0001a0003c0004t0007a0004c0005t0001 | a0002c0002t0001g0186 a0002c0002t0001g0187 a0003c0004t0007g0011 others(4): Show |
10 | 243 | 0.0412 | 9 | c.-28 others(20): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 2623 | chr1 | TogoVar | |||||||
ADCK5_chr8_144369047_144398242 | 144369453 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(146): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0200 others(92): Show |
149 | 167 | 0.8922 | 9 | c.-46 others(20): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 4593 | chr8 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167840367 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(8): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0002c0001others(2): Show | a0001c0002t0001a0001c0004t0002a0001c0004t0003others(4): Show | a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0004t0002g0200 others(7): Show |
11 | 114 | 0.0965 | 9 | c.300 others(28): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 21/32 | chr1 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167841502 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 HG02818.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0004a0002c0001a0002c0047others(2): Show | a0001c0004t0002a0002c0001t0002a0002c0047t0002others(2): Show | a0001c0004t0002g0202 a0001c0004t0002g0278 a0002c0001t0002g0018 others(6): Show |
9 | 164 | 0.0549 | 9 | c.300 others(28): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 21/32 | chr1 | TogoVar | |||||||
ADCY1_chr7_45569368_45728116 | 45725391 | G | GAAAAGGG others(2): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01261.hp2 HG02155.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0057 | a0001c0002t0003g0114 a0001c0002t0003g0125 a0001c0002t0057g0189 |
3 | 130 | 0.0231 | 9 | c.*11 others(22): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 2276 | chr7 | TogoVar | |||||||
ADCY2_chr5_7391138_7835081 | 7418647 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03195.hp2 HG03209.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0026a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0004others(2): Show | a0001c0001t0001g0005 a0001c0001t0003g0004 a0001c0026t0004g0002 others(2): Show |
5 | 68 | 0.0735 | 9 | c.408 others(26): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7507461 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001a0001c0026 | a0001c0001t0001a0001c0001t0003a0001c0026t0004 | a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0048 others(2): Show |
5 | 50 | 0.1000 | 9 | c.409 others(28): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 2/24 | chr5 | TogoVar | |||||||
ADCY2_chr5_7391138_7835081 | 7589458 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0111 a0001c0001t0007g0077 |
2 | 81 | 0.0247 | 9 | c.571 others(28): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | chr5 | TogoVar | |||||||
ADCY2_chr5_7391138_7835081 | 7589506 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01952.hp1 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0002a0001c0005t0001a0002c0002t0002others(2): Show | a0001c0001t0002g0129 a0001c0005t0001g0060 a0002c0002t0002g0058 others(2): Show |
5 | 116 | 0.0431 | 9 | c.571 others(28): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY3_chr2_24814169_24925237 | 24817466 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01261.hp1 HG01261.hp2 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0004a0001c0006others(6): Show | a0001c0003t0001a0001c0003t0011a0001c0004t0001others(9): Show | a0001c0003t0001g0049 a0001c0003t0001g0114 a0001c0003t0011g0016 others(32): Show |
37 | 88 | 0.4205 | 9 | c.*24 others(20): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 1702 | chr2 | TogoVar | |||||||
ADCY3_chr2_24814169_24925237 | 24911641 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02647.hp1 HG03453.hp2 |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0011a0002c0007t0012 | a0001c0003t0011g0016 a0002c0007t0012g0003 |
3 | 250 | 0.0120 | 9 | c.675 others(26): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
ADCY4_chr14_24313359_24340071 | 24326896 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG02056.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0176 a0001c0001t0002g0102 a0001c0002t0001g0042 others(15): Show |
20 | 105 | 0.1905 | 9 | c.152 others(26): Show |
ADCY4 | ENSG00000129467.14 | transcript | ENST00000418030.7 | protein_coding | 10/24 | chr14 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123298830 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02723.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0138 a0001c0001t0001g0164 a0001c0001t0001g0170 others(3): Show |
6 | 8 | 0.7500 | 9 | c.290 others(28): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 15/20 | chr3 | TogoVar | |||||||
ADCY6_chr12_48761194_48794089 | 48784665 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01255.hp2 others(4): Show |
a0001a0004 | a0001c0003a0004c0009 | a0001c0003t0001a0001c0003t0012a0004c0009t0001 | a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 others(4): Show |
7 | 179 | 0.0391 | 9 | c.-4- others(24): Show |
ADCY6 | ENSG00000174233.12 | transcript | ENST00000357869.8 | protein_coding | 1/21 | chr12 | TogoVar | |||||||
ADCY7_chr16_50261551_50323135 | 50281385 | A | AGGCAGGT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(156): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0035 others(154): Show |
159 | 336 | 0.4732 | 9 | c.-26 others(28): Show |
ADCY7 | ENSG00000121281.13 | transcript | ENST00000673801.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130846888 | T | TTCCCTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01109.hp2 HG01515.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0198 a0001c0001t0002g0128 a0001c0001t0004g0044 others(13): Show |
16 | 121 | 0.1322 | 9 | c.250 others(26): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 11/17 | chr8 | TogoVar | |||||||
ADCY8_chr8_130775301_131045909 | 130870943 | G | GTAGTTTA others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01257.hp2 HG01346.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0041 a0001c0001t0001g0126 a0001c0001t0002g0052 others(9): Show |
12 | 244 | 0.0492 | 9 | c.211 others(28): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 8/17 | chr8 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 4069272 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00597.hp1 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(35): Show | a0001c0001t0002g0220 a0001c0001t0003g0179 a0001c0001t0003g0189 others(44): Show |
47 | 211 | 0.2227 | 9 | c.169 others(30): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
ADD1_chr4_2838844_2935062 | 2852207 | C | CCTTTCCT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(102): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(100): Show |
105 | 159 | 0.6604 | 9 | c.-21 others(26): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADD1_chr4_2838844_2935062 | 2920657 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02451.hp1 HG02818.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0013others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0017others(2): Show | a0001c0001t0001g0092 a0001c0001t0001g0145 a0001c0004t0001g0243 others(7): Show |
10 | 101 | 0.0990 | 9 | c.194 others(28): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADD3_chr10_110002984_110140565 | 110065544 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02258.hp2 others(7): Show |
a0001a0006a0010 | a0001c0001a0006c0007a0010c0011 | a0001c0001t0003a0001c0001t0005a0006c0007t0003others(1): Show | a0001c0001t0003g0001 a0001c0001t0003g0277 a0001c0001t0003g0279 others(6): Show |
10 | 280 | 0.0357 | 9 | c.-29 others(28): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGB_chr6_146593972_146820462 | 146733105 | A | ATTAATGT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(166): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0004others(56): Show | a0001c0001t0002a0001c0002t0002a0001c0004t0002others(60): Show | a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0044 others(165): Show |
169 | 274 | 0.6168 | 9 | c.252 others(24): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 20/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133092776 | A | AGAGAGGG others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02451.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0026 | a0001c0001t0005a0001c0001t0034a0001c0002t0008others(1): Show | a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0034g0059 others(6): Show |
9 | 366 | 0.0246 | 9 | c.3+3 others(22): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502662 | A | ATGCTGGG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(249): Show |
258 | 308 | 0.8377 | 9 | c.267 others(28): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142520408 | A | ATGGTTGT others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02486.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0007a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0007t0003others(3): Show | a0001c0001t0001g0292 a0001c0001t0013g0052 a0001c0007t0003g0275 others(6): Show |
10 | 308 | 0.0325 | 9 | c.292 others(26): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |