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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM2_chr8_39738735_39843227 | 39836204 | CATTTTTT | C | intron_variant | MODIFIER | NA19007.hp1 NA19058.hp2 NA19063.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0296 |
5 | 328 | 0.0152 | -7 | c.132 others(22): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 2/20 | chr8 | TogoVar | |||||||
ADAM32_chr8_39102734_39289917 | 39160539 | CAAAAAAA | C | intron_variant | MODIFIER | HG02559.hp1 HG02723.hp2 HG02895.hp2 others(2): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0003a0006c0008others(1): Show | a0001c0001t0001a0002c0003t0001a0006c0008t0002others(1): Show | a0001c0001t0001g0007 a0002c0003t0001g0151 a0002c0003t0001g0157 others(2): Show |
5 | 7 | 0.7143 | -7 | c.526 others(22): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33635081 | TAGTTTTA | T | intron_variant | MODIFIER | HG02809.hp1 NA18906.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0009a0003c0005t0010 | a0001c0001t0009g0199 a0003c0005t0010g0193 |
2 | 222 | 0.0090 | -7 | c.188 others(26): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33771713 | ATATATTG | A | intron_variant | MODIFIER | HG00408.hp1 HG01361.hp2 HG01884.hp2 others(26): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0036others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 others(26): Show |
29 | 222 | 0.1306 | -7 | c.490 others(26): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33777703 | GAGGCATC | G | intron_variant | MODIFIER | HG00438.hp1 HG02523.hp2 NA18988.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0002c0004t0002g0037 |
3 | 222 | 0.0135 | -7 | c.490 others(26): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33857434 | AGAAAATG | A | intron_variant | MODIFIER | HG02280.hp1 NA20129.hp2 |
a0001a0004 | a0001c0050a0004c0049 | a0001c0050t0005a0004c0049t0014 | a0001c0050t0005g0202 a0004c0049t0014g0190 |
2 | 222 | 0.0090 | -7 | c.489 others(26): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70684840 | GCCTGGGT | G | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00597.hp2 others(35): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0007others(19): Show | a0001c0002t0018a0001c0002t0020a0001c0002t0041others(25): Show | a0001c0002t0018g0040 a0001c0002t0018g0045 a0001c0002t0020g0015 others(35): Show |
38 | 342 | 0.1111 | -7 | c.522 others(24): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70709495 | GTTTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(21): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0007a0001c0017others(14): Show | a0001c0002t0034a0001c0007t0037a0001c0017t0004others(16): Show | a0001c0002t0034g0218 a0001c0007t0037g0071 a0001c0017t0004g0189 others(21): Show |
24 | 38 | 0.6316 | -7 | c.870 others(22): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977393 | TATATATA | T | intron_variant | MODIFIER | HG02040.hp1 NA18988.hp2 |
a0003a0004 | a0003c0015a0004c0003 | a0003c0015t0046a0004c0003t0001 | a0003c0015t0046g0065 a0004c0003t0001g0069 |
2 | 224 | 0.0089 | -7 | c.295 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100077283 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02647.hp2 others(6): Show |
a0003a0004a0006others(1): Show | a0003c0009a0004c0003a0004c0030others(2): Show | a0003c0009t0001a0003c0009t0003a0004c0003t0001others(3): Show | a0003c0009t0001g0110 a0003c0009t0001g0126 a0003c0009t0001g0199 others(6): Show |
9 | 18 | 0.5000 | -7 | c.213 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77334788 | AAATATAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(109): Show |
a0001a0003a0005others(10): Show | a0001c0001a0001c0016a0001c0023others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0119 a0001c0001t0002g0001 a0001c0001t0002g0025 others(108): Show |
112 | 324 | 0.3457 | -7 | c.185 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77375890 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(46): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0007a0003c0002others(11): Show | a0001c0001t0001a0002c0007t0003a0003c0002t0006others(19): Show | a0001c0001t0001g0119 a0002c0007t0003g0125 a0003c0002t0006g0013 others(46): Show |
49 | 77 | 0.6364 | -7 | c.496 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129633212 | AAAGTTTC | A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(66): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(66): Show |
69 | 224 | 0.3080 | -7 | c.177 others(26): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129713821 | GGGGTTCT | G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(76): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(76): Show |
79 | 224 | 0.3527 | -7 | c.331 others(26): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG02280.hp1 others(17): Show |
a0001a0002a0017 | a0001c0009a0002c0004a0002c0020others(2): Show | a0001c0009t0001a0002c0004t0001a0002c0004t0002others(3): Show | a0001c0009t0001g0171 a0002c0004t0001g0015 a0002c0004t0001g0251 others(17): Show |
20 | 58 | 0.3448 | -7 | c.428 others(26): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43409601 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(76): Show |
a0001a0005a0010others(1): Show | a0001c0001a0001c0002a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 others(76): Show |
79 | 100 | 0.7900 | -7 | c.428 others(28): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43514560 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01109.hp2 others(36): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0039 others(36): Show |
39 | 42 | 0.9286 | -7 | c.614 others(26): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43536503 | CAATAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(34): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 others(34): Show |
37 | 304 | 0.1217 | -7 | c.454 others(24): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179112281 | TTTAAGAA | T | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02976.hp1 others(1): Show |
a0002a0003a0008 | a0002c0039a0003c0012a0008c0036others(1): Show | a0002c0039t0007a0003c0012t0007a0008c0036t0007others(1): Show | a0002c0039t0007g0210 a0003c0012t0007g0120 a0008c0036t0007g0036 others(1): Show |
4 | 213 | 0.0188 | -7 | c.*15 others(18): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 22/22 | 1579 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72316358 | TATCTCTG | T | intron_variant | MODIFIER | HG03453.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0029 a0001c0001t0004g0019 |
2 | 180 | 0.0111 | -7 | c.148 others(24): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 10/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72530056 | AATATGTT | A | intron_variant | MODIFIER | HG00140.hp2 HG02258.hp2 HG06807.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0016a0003c0005t0003 | a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0016g0092 others(1): Show |
4 | 126 | 0.0317 | -7 | c.504 others(26): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72530829 | TATATATA | T | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG03453.hp1 others(1): Show |
a0001a0009 | a0001c0001a0009c0018 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(1): Show | a0001c0001t0001g0136 a0001c0001t0004g0138 a0001c0001t0018g0139 others(1): Show |
4 | 180 | 0.0222 | -7 | c.504 others(26): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS5_chr21_26912922_26972088 | 26951679 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0010others(10): Show | a0001c0001t0006g0188 a0001c0001t0006g0193 a0001c0001t0007g0197 others(16): Show |
21 | 105 | 0.2000 | -7 | c.123 others(26): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 2/7 | chr21 | TogoVar | |||||||
ADAMTS5_chr21_26912922_26972088 | 26963641 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0018others(6): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0015others(21): Show | a0001c0001t0003g0013 a0001c0001t0003g0312 a0001c0001t0003g0313 others(35): Show |
46 | 55 | 0.8364 | -7 | c.110 others(26): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65256978 | TCTCTCTC | T | intron_variant | MODIFIER | HG02280.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0188 a0001c0001t0005g0201 |
2 | 202 | 0.0099 | -7 | c.183 others(26): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 14/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65275213 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG02451.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0014 others(4): Show |
7 | 19 | 0.3684 | -7 | c.151 others(26): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65276825 | CTGAAGTA | C | intron_variant | MODIFIER | HG00741.hp2 HG02451.hp1 HG02486.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0084 a0001c0001t0001g0167 a0001c0001t0002g0009 others(7): Show |
10 | 202 | 0.0495 | -7 | c.151 others(26): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65381529 | ATTTTTTT | A | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02630.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0125 a0001c0001t0001g0163 a0001c0001t0002g0014 others(8): Show |
11 | 88 | 0.1250 | -7 | c.107 others(28): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65398805 | AAAGAAAG | A | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01168.hp2 others(6): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0074 a0001c0001t0001g0110 a0001c0001t0001g0126 others(6): Show |
9 | 182 | 0.0495 | -7 | c.107 others(28): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64540975 | CCAATGTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(116): Show |
a0001a0003a0007others(7): Show | a0001c0001a0001c0004a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(114): Show |
119 | 284 | 0.4190 | -7 | c.552 others(24): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 36/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64593958 | ATGATGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01257.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(5): Show | a0001c0001t0001g0018 a0001c0001t0002g0089 a0001c0001t0002g0204 others(14): Show |
17 | 202 | 0.0842 | -7 | c.435 others(24): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 28/39 | chr3 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18655806 | TAAAAAAA | T | intron_variant | MODIFIER | HG01975.hp1 HG01975.hp2 HG02976.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0042a0002c0001others(3): Show | a0001c0006t0011a0001c0042t0003a0002c0001t0001others(4): Show | a0001c0006t0011g0047 a0001c0042t0003g0195 a0002c0001t0001g0193 others(4): Show |
7 | 10 | 0.7000 | -7 | c.835 others(24): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18711930 | TCCCTGAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(42): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0005a0001c0007others(24): Show | a0001c0002t0001a0001c0002t0004a0001c0005t0002others(32): Show | a0001c0002t0001g0125 a0001c0002t0004g0091 a0001c0005t0002g0149 others(42): Show |
45 | 216 | 0.2083 | -7 | c.187 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18768546 | GGTAGGTA | G | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00738.hp1 others(45): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0005others(20): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(34): Show | a0001c0002t0001g0077 a0001c0002t0002g0062 a0001c0002t0002g0063 others(45): Show |
48 | 216 | 0.2222 | -7 | c.221 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18815711 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(4): Show |
a0001a0002a0007others(1): Show | a0001c0057a0001c0080a0002c0001others(4): Show | a0001c0057t0002a0001c0080t0002a0002c0001t0007others(4): Show | a0001c0057t0002g0001 a0001c0080t0002g0004 a0002c0001t0007g0208 others(4): Show |
7 | 92 | 0.0761 | -7 | c.380 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18904633 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01257.hp1 others(4): Show |
a0001a0002a0011 | a0001c0002a0001c0005a0001c0010others(2): Show | a0001c0002t0002a0001c0005t0002a0001c0010t0002others(3): Show | a0001c0002t0002g0066 a0001c0002t0002g0128 a0001c0005t0002g0009 others(4): Show |
7 | 26 | 0.2692 | -7 | c.485 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133552332 | GTTGAATC | G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00738.hp1 others(9): Show |
a0001a0002a0005 | a0001c0010a0001c0011a0001c0015others(4): Show | a0001c0010t0001a0001c0010t0002a0001c0011t0001others(5): Show | a0001c0010t0001g0084 a0001c0010t0002g0075 a0001c0010t0002g0088 others(9): Show |
12 | 150 | 0.0800 | -7 | c.940 others(24): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133563998 | AGAGAAGG | A | intron_variant | MODIFIER | HG01496.hp2 HG01943.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0001g0052 a0001c0001t0001g0120 a0001c0001t0001g0130 others(10): Show |
13 | 144 | 0.0903 | -7 | c.174 others(26): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83678788 | TGTATATA | T | intron_variant | MODIFIER | HG01884.hp1 HG02896.hp2 HG02897.hp2 |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0001 | a0001c0001t0001g0073 a0001c0001t0001g0075 a0008c0010t0001g0074 |
3 | 272 | 0.0110 | -7 | c.69+ others(24): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ADAMTSL3_chr15_83649123_84044842 | 83994586 | GTTTTTTT | G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(9): Show |
a0001a0007 | a0001c0001a0001c0057a0007c0007 | a0001c0001t0001a0001c0057t0001a0007c0007t0001 | a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0088 others(9): Show |
12 | 35 | 0.3429 | -7 | c.397 others(26): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 23/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 906755 | TGGACAGG | T | intron_variant | MODIFIER | HG03654.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0014 |
2 | 10 | 0.2000 | -7 | c.389 others(24): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45186885 | TATGTCTA | T | intron_variant | MODIFIER | HG02896.hp2 HG03225.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0014g0209 |
3 | 348 | 0.0086 | -7 | c.156 others(26): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | chr21 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1235764 | CCAAAGAG | C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01934.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0010a0001c0001t0031a0002c0002t0002others(5): Show | a0001c0001t0010g0013 a0001c0001t0031g0059 a0002c0002t0002g0043 others(6): Show |
9 | 102 | 0.0882 | -7 | c.136 others(26): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1236141 | CTGTGAAG | C | intron_variant | MODIFIER | HG02040.hp1 HG02615.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0007 | a0001c0003t0001g0052 a0002c0002t0007g0004 |
2 | 102 | 0.0196 | -7 | c.136 others(26): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1236513 | CTGTGAAG | C | intron_variant | MODIFIER | HG02040.hp1 NA18945.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0007 | a0001c0001t0003g0102 a0002c0002t0007g0004 |
2 | 100 | 0.0200 | -7 | c.136 others(26): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1566063 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02055.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0030others(2): Show | a0001c0001t0001g0065 a0001c0001t0011g0026 a0001c0001t0030g0034 others(3): Show |
6 | 47 | 0.1277 | -7 | c.100 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1603020 | ACACACAT | A | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG02080.hp2 others(22): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(21): Show | a0001c0001t0001g0069 a0001c0001t0003g0098 a0001c0001t0009g0055 others(22): Show |
25 | 106 | 0.2358 | -7 | c.100 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1604238 | TTATAAAG | T | intron_variant | MODIFIER | HG01243.hp1 HG02717.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0011a0004c0005t0037 | a0001c0001t0011g0026 a0004c0005t0037g0064 |
2 | 106 | 0.0189 | -7 | c.100 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1619302 | AAAAAAAG | A | intron_variant | MODIFIER | HG02027.hp1 NA18984.hp2 NA18989.hp1 others(2): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0015 | a0001c0001t0035a0001c0001t0057a0002c0002t0002others(2): Show | a0001c0001t0035g0079 a0001c0001t0057g0103 a0002c0002t0002g0067 others(2): Show |
5 | 106 | 0.0472 | -7 | c.100 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01070.hp2 others(40): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0013 | a0001c0001t0003a0001c0001t0009a0003c0003t0003others(10): Show | a0001c0001t0003g0006 a0001c0001t0003g0087 a0001c0001t0003g0088 others(39): Show |
43 | 110 | 0.3909 | -7 | c.-17 others(18): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar |