regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS17_chr15_99966437_100346975 | 100058268 | C | CCCTATCC others(33): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0022 | a0002c0022t0035 | a0002c0022t0035g0040 | 1 | 228 | 0.0044 | 40 | c.213 others(59): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100152953 | C | CCAGTAGA others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(136): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0005a0001c0007others(51): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(106): Show | a0001c0002t0002g0169a0001c0002t0004g0081a0001c0002t0004g0158others(136): Show | 139 | 228 | 0.6097 | 40 | c.132 others(57): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 9/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100339564 | C | CCCACATT others(33): Show |
intron_variant | MODIFIER | HG02293.hp2 HG03130.hp1 |
a0001a0005 | a0001c0010a0005c0035 | a0001c0010t0009a0005c0035t0010 | a0001c0010t0009g0022a0005c0035t0010g0021 | 2 | 228 | 0.0088 | 40 | c.450 others(57): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 2/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01106.hp2 others(4): Show |
a0001a0012a0029others(1): Show | a0001c0001a0012c0012a0029c0042others(1): Show | a0001c0001t0002a0001c0001t0050a0012c0012t0010others(2): Show | a0001c0001t0002g0123a0001c0001t0002g0249a0001c0001t0002g0250others(4): Show | 7 | 326 | 0.0215 | 40 | c.253 others(59): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129658351 | A | AAGAAAGA others(33): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0022 | a0002c0022t0002 | a0002c0022t0002g0194 | 1 | 226 | 0.0044 | 40 | c.230 others(57): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 306 | 0.0033 | 40 | c.161 others(59): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179208108 | A | AGCCCGCA others(33): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00597.hp1 others(111): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(76): Show | a0001c0001t0001g0049a0001c0001t0002g0105a0001c0001t0004g0026others(111): Show | 114 | 276 | 0.4130 | 40 | c.689 others(55): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179331396 | T | TGGAGGGA others(33): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp2 others(45): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0018others(25): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(31): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0069others(45): Show | 48 | 276 | 0.1739 | 40 | c.534 others(59): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72455909 | T | TGTATATA others(33): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 182 | 0.0055 | 40 | c.505 others(59): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72455933 | T | TATATAGT others(33): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02071.hp2 HG02080.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0017a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0002g0043others(10): Show | 13 | 182 | 0.0714 | 40 | c.505 others(59): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS4_chr1_161179302_161204054 | 161188883 | A | AATATATA others(33): Show |
3_prime_UTR_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0071 | 1 | 374 | 0.0027 | 40 | c.*22 others(51): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2254 | chr1 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18626873 | T | TTCTTTCT others(33): Show |
intron_variant | MODIFIER | HG01168.hp1 HG03704.hp2 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0004 | a0001c0003t0001g0196a0002c0001t0004g0213 | 2 | 218 | 0.0092 | 40 | c.601 others(57): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18634860 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0126 | 1 | 218 | 0.0046 | 40 | c.602 others(57): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83674766 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00733.hp1 others(17): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0016others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0016t0001others(7): Show | a0001c0001t0001g0029a0001c0001t0001g0146a0002c0002t0001g0078others(17): Show | 20 | 274 | 0.0730 | 40 | c.69+ others(57): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83714785 | T | TTCTTTCT others(33): Show |
intron_variant | MODIFIER | HG01099.hp2 NA20752.hp1 NA20752.hp2 |
a0005a0008 | a0005c0005a0005c0046a0008c0011 | a0005c0005t0002a0005c0046t0005a0008c0011t0001 | a0005c0005t0002g0018a0005c0046t0005g0033a0008c0011t0001g0030 | 3 | 274 | 0.0110 | 40 | c.189 others(59): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83823920 | T | TTCTTCTT others(33): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 274 | 0.0037 | 40 | c.600 others(57): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83903936 | A | AGGAAGGA others(33): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0271 | 1 | 274 | 0.0037 | 40 | c.170 others(59): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83903936 | A | AGGAAGGG others(33): Show |
intron_variant | MODIFIER | NA18985.hp1 NA19000.hp1 NA19077.hp1 others(1): Show |
a0002a0016a0035 | a0002c0002a0016c0042a0016c0043others(1): Show | a0002c0002t0003a0016c0042t0001a0016c0043t0001others(1): Show | a0002c0002t0003g0132a0016c0042t0001g0141a0016c0043t0001g0220others(1): Show | 4 | 274 | 0.0146 | 40 | c.170 others(59): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | chr15 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1514178 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03540.hp1 NA18984.hp1 others(2): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0013 | a0001c0001t0054a0002c0002t0002a0002c0002t0044others(2): Show | a0001c0001t0054g0083a0002c0002t0002g0067a0002c0002t0044g0049others(2): Show | 5 | 106 | 0.0472 | 40 | c.101 others(61): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1576111 | A | AGTCACAG others(33): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0019 | a0001c0001t0012g0024a0001c0001t0019g0038 | 2 | 106 | 0.0189 | 40 | c.100 others(61): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1576111 | A | AGTCACAG others(33): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG01243.hp1 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(25): Show | a0001c0001t0001g0078a0001c0001t0010g0013a0001c0001t0011g0026others(25): Show | 28 | 106 | 0.2642 | 40 | c.100 others(61): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 348 | 0.0029 | 40 | c.-17 others(51): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | ||||||
ADCY1_chr7_45569368_45728116 | 45641932 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0005 | a0001c0005t0025 | a0001c0005t0025g0122 | 1 | 278 | 0.0036 | 40 | c.102 others(59): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7557192 | G | GATATATA others(33): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0052 | 1 | 140 | 0.0071 | 40 | c.570 others(59): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY5_chr3_123277296_123454090 | 123310103 | T | TACACACA others(33): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 260 | 0.0039 | 40 | c.244 others(59): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 12/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123348036 | A | AGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01255.hp1 HG02559.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0164a0001c0001t0001g0204a0001c0001t0001g0234others(6): Show | 9 | 260 | 0.0346 | 40 | c.128 others(57): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 2/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123359331 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 260 | 0.0039 | 40 | c.113 others(59): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123396819 | C | CGAGAGAG others(33): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0066 | 1 | 260 | 0.0039 | 40 | c.113 others(61): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130992382 | C | CACATATA others(33): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0003a0001c0009t0010 | a0001c0003t0003g0095a0001c0009t0010g0008 | 2 | 246 | 0.0081 | 40 | c.961 others(57): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | ||||||
ADD1_chr4_2838844_2935062 | 2852198 | C | CTTTCCTT others(33): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0313 | 1 | 320 | 0.0031 | 40 | c.-21 others(57): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ADD3_chr10_110002984_110140565 | 110065539 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0259a0001c0001t0002g0249 | 2 | 288 | 0.0069 | 40 | c.-29 others(59): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGB_chr6_146593972_146820462 | 146614223 | T | TCCTTCCT others(33): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0053 | 1 | 276 | 0.0036 | 40 | c.74+ others(57): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGB_chr6_146593972_146820462 | 146691425 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 1 | 276 | 0.0036 | 40 | c.148 others(57): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGB_chr6_146593972_146820462 | 146691447 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03195.hp2 |
a0003 | a0003c0005a0003c0011 | a0003c0005t0001a0003c0011t0001 | a0003c0005t0001g0153a0003c0011t0001g0235 | 2 | 276 | 0.0073 | 40 | c.148 others(57): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGB_chr6_146593972_146820462 | 146766430 | A | AAAATTAA others(33): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0013 | a0013c0039 | a0013c0039t0001 | a0013c0039t0001g0130 | 1 | 276 | 0.0036 | 40 | c.375 others(59): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 28/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRB1_chr8_142444649_142550007 | 142475896 | C | CGGGGCTG others(33): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0052 | 1 | 310 | 0.0032 | 40 | c.946 others(55): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 68875150 | C | CTCCTTCC others(33): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 120 | 0.0083 | 40 | c.758 others(59): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 68906316 | A | ATATATTG others(33): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0060 | 2 | 120 | 0.0167 | 40 | c.758 others(59): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 69031519 | C | CTCTTTCT others(33): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01433.hp2 HG01517.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0046a0001c0001t0001g0050a0001c0001t0001g0094others(7): Show | 10 | 120 | 0.0833 | 40 | c.210 others(61): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 69043321 | A | AAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0074a0001c0001t0002g0036a0001c0002t0002g0037others(1): Show | 4 | 120 | 0.0333 | 40 | c.210 others(59): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRE3_chr19_14614117_14679844 | 14636149 | T | TCTTTCTT others(33): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0016 | a0016c0028 | a0016c0028t0002 | a0016c0028t0002g0016 | 1 | 372 | 0.0027 | 40 | c.148 others(59): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/15 | chr19 | TogoVar | ||||||
ADGRE3_chr19_14614117_14679844 | 14636149 | T | TCTTTCTT others(33): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00738.hp2 HG03486.hp1 |
a0001a0002a0021 | a0001c0001a0002c0003a0021c0022 | a0001c0001t0001a0002c0003t0001a0021c0022t0001 | a0001c0001t0001g0129a0002c0003t0001g0322a0021c0022t0001g0341 | 3 | 372 | 0.0081 | 40 | c.148 others(59): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/15 | chr19 | TogoVar | ||||||
ADGRG2_chrX_18984307_19127468 | 19059588 | A | AAGTAGTA others(33): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 188 | 0.0053 | 40 | c.118 others(57): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 3/28 | chrX | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 91014136 | C | CCACACAC others(33): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0039 | a0039c0088 | a0039c0088t0003 | a0039c0088t0003g0084 | 1 | 158 | 0.0063 | 40 | c.181 others(63): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADGRV1_chr5_90553797_91169437 | 91035861 | T | TATATAAT others(33): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0057 | a0057c0028 | a0057c0028t0001 | a0057c0028t0001g0153 | 1 | 158 | 0.0063 | 40 | c.181 others(63): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | chr5 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74274732 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 200 | 0.0050 | 40 | c.195 others(59): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74346365 | T | TGCAATGT others(33): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18906.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0100a0001c0002t0004g0101a0001c0002t0004g0136 | 3 | 200 | 0.0150 | 40 | c.273 others(59): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74480206 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 200 | 0.0050 | 40 | c.556 others(59): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74702524 | T | TTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0008 | 2 | 200 | 0.0100 | 40 | c.965 others(57): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADM5_chr19_49684594_49695575 | 49692130 | T | TGGGGCCT others(33): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 NA19068.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 392 | 0.0077 | 40 | c.*16 others(51): Show |
ADM5 | ENSG00000224420.4 | transcript | ENST00000420022.4 | protein_coding | 1556 | chr19 | TogoVar |