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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS13_chr9_133417367_133464386 | 133429936 | C | T | splice_region_variant others(1): Show |
LOW | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 362 | 0.0028 | 0 | c.825 others(5): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 7/28 | chr9 | TogoVar | |||||||
ADAMTS13_chr9_133417367_133464386 | 133438373 | G | A | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG01891.hp2 HG02818.hp2 others(4): Show |
a0002a0009a0025 | a0002c0040a0009c0012a0025c0053 | a0002c0040t0001a0009c0012t0001a0025c0053t0001 | a0002c0040t0001g0300 a0009c0012t0001g0033 a0009c0012t0001g0034 others(4): Show |
7 | 362 | 0.0193 | 0 | c.170 others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 14/28 | chr9 | TogoVar | |||||||
ADAMTS13_chr9_133417367_133464386 | 133440337 | C | T | splice_region_variant others(1): Show |
LOW | HG02145.hp2 HG02257.hp1 HG02965.hp1 others(1): Show |
a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0023 a0011c0015t0001g0068 a0011c0015t0001g0262 |
4 | 362 | 0.0110 | 0 | c.178 others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 15/28 | chr9 | TogoVar | |||||||
ADAMTS13_chr9_133417367_133464386 | 133456213 | C | T | missense_variant others(1): Show |
MODERATE | HG00639.hp1 | a0021 | a0021c0049 | a0021c0049t0001 | a0021c0049t0001g0157 | 1 | 362 | 0.0028 | 0 | c.354 others(4): Show |
p.Ala others(7): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 26/29 | 3622/4399 | 3545/4116 | 1182/1371 | chr9 | TogoVar | |||
ADAMTS14_chr10_70667506_70767441 | 70729384 | C | T | splice_region_variant others(1): Show |
LOW | HG03927.hp1 | a0001 | a0001c0012 | a0001c0012t0009 | a0001c0012t0009g0007 | 1 | 352 | 0.0028 | 0 | c.954 others(5): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 5/21 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70744192 | G | A | splice_region_variant others(1): Show |
LOW | HG01433.hp1 HG02809.hp2 |
a0006 | a0006c0042 | a0006c0042t0005 | a0006c0042t0005g0047 a0006c0042t0005g0048 |
2 | 352 | 0.0057 | 0 | c.218 others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 14/21 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70751472 | C | T | splice_region_variant others(1): Show |
LOW | HG00733.hp2 HG03239.hp2 HG03831.hp2 others(3): Show |
a0001a0003 | a0001c0012a0003c0074 | a0001c0012t0003a0001c0012t0009a0003c0074t0003 | a0001c0012t0003g0106 a0001c0012t0003g0116 a0001c0012t0003g0230 others(3): Show |
6 | 352 | 0.0170 | 0 | c.242 others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 16/21 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70751650 | C | T | splice_region_variant others(1): Show |
LOW | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0114 | 1 | 352 | 0.0028 | 0 | c.259 others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 17/21 | chr10 | TogoVar | |||||||
ADAMTS15_chr11_130443645_130481645 | 130461491 | C | T | splice_region_variant others(1): Show |
LOW | HG01993.hp1 | a0003 | a0003c0040 | a0003c0040t0002 | a0003c0040t0002g0001 | 1 | 396 | 0.0025 | 0 | c.960 others(3): Show |
p.Asp others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1289/6006 | 960/2853 | 320/950 | chr11 | TogoVar | |||
ADAMTS15_chr11_130443645_130481645 | 130470922 | T | G | missense_variant others(1): Show |
MODERATE | NA18995.hp1 | a0017 | a0017c0032 | a0017c0032t0009 | a0017c0032t0009g0264 | 1 | 396 | 0.0025 | 0 | c.172 others(4): Show |
p.Ser others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 6/8 | 2052/6006 | 1723/2853 | 575/950 | chr11 | TogoVar | |||
ADAMTS16_chr5_5135330_5325304 | 5186045 | T | C | splice_region_variant others(1): Show |
LOW | HG02486.hp1 HG03225.hp2 |
a0001a0027 | a0001c0010a0027c0043 | a0001c0010t0001a0027c0043t0023 | a0001c0010t0001g0065 a0027c0043t0023g0141 |
2 | 330 | 0.0061 | 0 | c.764 others(5): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 4/22 | chr5 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5200107 | A | ATC | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(173): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0010a0001c0022others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(104): Show | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 others(172): Show |
176 | 254 | 0.6929 | 2 | c.131 others(15): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5200107 | A | ATCTC | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00438.hp2 HG00544.hp2 others(67): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0022a0001c0032others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0001g0320 others(67): Show |
70 | 148 | 0.4730 | 4 | c.131 others(17): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5200107 | ATCTCTC | A | splice_region_variant others(1): Show |
LOW | HG03669.hp2 NA18983.hp2 NA18997.hp2 others(2): Show |
a0006a0007a0015others(1): Show | a0006c0029a0007c0027a0015c0035others(1): Show | a0006c0029t0001a0007c0027t0001a0015c0035t0001others(1): Show | a0006c0029t0001g0024 a0007c0027t0001g0250 a0007c0027t0001g0252 others(2): Show |
5 | 83 | 0.0602 | -6 | c.131 others(20): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5200276 | A | C | splice_region_variant others(1): Show |
LOW | HG01106.hp2 HG01496.hp2 HG02486.hp2 others(8): Show |
a0002a0003a0004 | a0002c0005a0003c0006a0003c0017others(2): Show | a0002c0005t0009a0003c0006t0016a0003c0017t0001others(6): Show | a0002c0005t0009g0206 a0003c0006t0016g0172 a0003c0017t0001g0241 others(8): Show |
11 | 330 | 0.0333 | 0 | c.145 others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 9/22 | chr5 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5262653 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(62): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0023a0001c0050others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(51): Show | a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0074 others(62): Show |
65 | 330 | 0.1970 | 0 | c.266 others(6): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 17/22 | chr5 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99974568 | G | A | splice_region_variant others(1): Show |
LOW | NA19009.hp1 | a0007 | a0007c0060 | a0007c0060t0003 | a0007c0060t0003g0009 | 1 | 226 | 0.0044 | 0 | c.312 others(6): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 21/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100048851 | T | C | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(98): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0005a0001c0007others(40): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0065others(80): Show | a0001c0002t0002g0169 a0001c0002t0005g0081 a0001c0002t0005g0158 others(98): Show |
101 | 226 | 0.4469 | 0 | c.259 others(6): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100281221 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(65): Show |
a0001a0002a0003others(7): Show | a0001c0018a0001c0045a0001c0046others(23): Show | a0001c0018t0010a0001c0018t0016a0001c0018t0070others(48): Show | a0001c0018t0010g0006 a0001c0018t0010g0007 a0001c0018t0016g0223 others(65): Show |
68 | 226 | 0.3009 | 0 | c.789 others(5): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100341815 | C | T | splice_region_variant others(1): Show |
LOW | HG03239.hp1 | a0002 | a0002c0011 | a0002c0011t0063 | a0002c0011t0063g0053 | 1 | 226 | 0.0044 | 0 | c.79+ others(4): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 1/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77282128 | T | C | splice_region_variant | LOW | HG02895.hp1 HG02897.hp2 HG03041.hp1 others(1): Show |
a0007a0023a0024 | a0007c0010a0023c0032a0024c0028 | a0007c0010t0031a0023c0032t0018a0024c0028t0030 | a0007c0010t0031g0310 a0023c0032t0018g0175 a0023c0032t0018g0176 others(1): Show |
4 | 324 | 0.0123 | 0 | c.*18 others(5): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 23/23 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77289415 | C | G | splice_region_variant others(1): Show |
LOW | HG02602.hp1 HG02738.hp2 |
a0014a0032 | a0014c0015a0032c0064 | a0014c0015t0001a0032c0064t0001 | a0014c0015t0001g0226 a0032c0064t0001g0208 |
2 | 322 | 0.0062 | 0 | c.340 others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77289415 | C | T | splice_region_variant others(1): Show |
LOW | HG02523.hp1 HG04184.hp1 |
a0003 | a0003c0002 | a0003c0002t0026a0003c0002t0027 | a0003c0002t0026g0066 a0003c0002t0027g0219 |
2 | 322 | 0.0062 | 0 | c.340 others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77293264 | G | C | splice_region_variant others(1): Show |
LOW | NA19079.hp2 | a0003 | a0003c0002 | a0003c0002t0007 | a0003c0002t0007g0070 | 1 | 324 | 0.0031 | 0 | c.300 others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 19/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77341806 | TA | T | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01123.hp2 HG01243.hp1 others(19): Show |
a0002a0003a0004others(6): Show | a0002c0007a0003c0002a0004c0003others(6): Show | a0002c0007t0037a0003c0002t0006a0004c0003t0001others(13): Show | a0002c0007t0037g0095 a0003c0002t0006g0214 a0004c0003t0001g0229 others(19): Show |
22 | 324 | 0.0679 | -1 | c.161 others(7): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 10/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77359310 | G | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(133): Show |
a0002a0003a0004others(19): Show | a0002c0007a0002c0055a0002c0057others(25): Show | a0002c0007t0003a0002c0007t0005a0002c0007t0035others(55): Show | a0002c0007t0003g0069 a0002c0007t0003g0125 a0002c0007t0003g0133 others(133): Show |
136 | 324 | 0.4198 | 0 | c.132 others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 8/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77364184 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(63): Show |
a0002a0004a0005others(10): Show | a0002c0007a0002c0055a0002c0057others(14): Show | a0002c0007t0003a0002c0007t0005a0002c0007t0035others(30): Show | a0002c0007t0003g0069 a0002c0007t0003g0165 a0002c0007t0003g0267 others(63): Show |
66 | 324 | 0.2037 | 0 | c.972 others(5): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 5/22 | chr16 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129528682 | A | G | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG01167.hp2 HG01243.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(13): Show |
16 | 224 | 0.0714 | 0 | c.132 others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | chr5 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129679759 | T | C | splice_region_variant others(1): Show |
LOW | HG00544.hp2 HG00558.hp2 HG00642.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(6): Show | a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0119 others(30): Show |
33 | 224 | 0.1473 | 0 | c.250 others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 16/22 | chr5 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129735115 | C | T | splice_region_variant others(1): Show |
LOW | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0134 | 1 | 224 | 0.0045 | 0 | c.349 others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 22/22 | chr5 | TogoVar | |||||||
ADAMTS1_chr21_26830755_26850409 | 26841994 | C | CA | splice_region_variant others(1): Show |
LOW | HG01255.hp1 HG02257.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0016a0001c0005t0033a0001c0005t0034 | a0001c0005t0016g0019 a0001c0005t0033g0061 a0001c0005t0034g0062 |
6 | 478 | 0.0126 | 1 | c.107 others(7): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
ADAMTS1_chr21_26830755_26850409 | 26842332 | C | T | splice_region_variant others(1): Show |
LOW | HG01192.hp2 HG02622.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0041 a0001c0001t0014g0090 |
3 | 478 | 0.0063 | 0 | c.107 others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43399060 | A | G | splice_region_variant others(1): Show |
LOW | HG01192.hp2 HG02886.hp1 HG03486.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 |
3 | 304 | 0.0099 | 0 | c.445 others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 29/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43429731 | A | G | splice_region_variant others(1): Show |
LOW | HG02258.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0150 | 1 | 304 | 0.0033 | 0 | c.338 others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 23/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43432474 | T | TA | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(102): Show |
a0001a0005a0010others(1): Show | a0001c0001a0001c0003a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(102): Show |
105 | 304 | 0.3454 | 1 | c.293 others(7): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 20/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43432475 | A | T | splice_region_variant others(1): Show |
LOW | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0300 | 1 | 304 | 0.0033 | 0 | c.293 others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 20/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43446715 | T | C | splice_region_variant others(1): Show |
LOW | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 304 | 0.0033 | 0 | c.208 others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 14/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43453908 | C | T | missense_variant others(1): Show |
MODERATE | HG03130.hp1 HG03540.hp2 |
a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0207 a0009c0014t0001g0209 |
2 | 304 | 0.0066 | 0 | c.175 others(4): Show |
p.Glu others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 12/39 | 2041/6358 | 1759/5733 | 587/1910 | chr12 | TogoVar | |||
ADAMTS20_chr12_43348866_43557203 | 43466803 | T | G | splice_region_variant others(1): Show |
LOW | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 304 | 0.0033 | 0 | c.122 others(6): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 8/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43551825 | CT | C | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG00558.hp2 HG00597.hp1 others(20): Show |
a0001a0002a0017 | a0001c0001a0002c0004a0002c0026others(2): Show | a0001c0001t0001a0002c0004t0001a0002c0004t0002others(3): Show | a0001c0001t0001g0265 a0001c0001t0001g0266 a0002c0004t0001g0251 others(20): Show |
23 | 304 | 0.0757 | -1 | c.91+ others(5): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 1/38 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179130106 | T | C | splice_region_variant others(1): Show |
LOW | NA20905.hp1 | a0002 | a0002c0102 | a0002c0102t0001 | a0002c0102t0001g0250 | 1 | 274 | 0.0036 | 0 | c.229 others(6): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 15/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179207715 | C | A | missense_variant others(1): Show |
MODERATE | HG02109.hp1 | a0019 | a0019c0081 | a0019c0081t0028 | a0019c0081t0028g0051 | 1 | 274 | 0.0036 | 0 | c.689 others(3): Show |
p.Gly others(6): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/22 | 822/6783 | 689/3636 | 230/1211 | chr5 | TogoVar | |||
ADAMTS3_chr4_72275969_72574221 | 72414808 | C | T | splice_region_variant others(1): Show |
LOW | HG02486.hp1 NA19030.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0028 others(1): Show |
4 | 180 | 0.0222 | 0 | c.661 others(5): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72567405 | GA | G | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00639.hp1 HG00741.hp2 others(75): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 others(75): Show |
78 | 180 | 0.4333 | -1 | c.70- others(5): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
ADAMTS4_chr1_161179302_161204054 | 161195634 | A | G | splice_region_variant others(1): Show |
LOW | HG02559.hp1 NA18522.hp2 NA18972.hp2 others(3): Show |
a0002a0003 | a0002c0010a0003c0007 | a0002c0010t0082a0002c0010t0083a0003c0007t0014others(2): Show | a0002c0010t0082g0164 a0002c0010t0083g0165 a0003c0007t0014g0048 others(2): Show |
6 | 372 | 0.0161 | 0 | c.109 others(4): Show |
p.Gly others(6): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 4/9 | 1519/9777 | 1092/2514 | 364/837 | chr1 | TogoVar | |||
ADAMTS6_chr5_65143738_65486920 | 65151950 | C | T | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00423.hp2 HG00735.hp2 others(60): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0025 others(60): Show |
63 | 202 | 0.3119 | 0 | c.324 others(6): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 24/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65451620 | G | C | missense_variant others(1): Show |
MODERATE | HG02083.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0012 | 1 | 202 | 0.0050 | 0 | c.928 others(3): Show |
p.Pro others(6): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/25 | 1785/7309 | 928/3354 | 310/1117 | chr5 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78762569 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(43): Show |
a0005a0008a0014others(6): Show | a0005c0005a0005c0047a0005c0108others(8): Show | a0005c0005t0002a0005c0005t0011a0005c0047t0002others(9): Show | a0005c0005t0002g0009 a0005c0005t0002g0012 a0005c0005t0002g0115 others(40): Show |
46 | 378 | 0.1217 | 0 | c.474 others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 22/23 | chr15 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78764712 | G | C | splice_region_variant others(1): Show |
LOW | HG02004.hp2 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0134 | 1 | 378 | 0.0026 | 0 | c.426 others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/23 | chr15 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78771828 | C | T | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02074.hp1 HG02083.hp2 others(35): Show |
a0003a0007a0011others(7): Show | a0003c0082a0007c0010a0007c0029others(15): Show | a0003c0082t0001a0007c0010t0001a0007c0029t0001others(15): Show | a0003c0082t0001g0312 a0007c0010t0001g0045 a0007c0010t0001g0047 others(35): Show |
38 | 378 | 0.1005 | 0 | c.213 others(4): Show |
p.Gly others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 15/24 | 2377/5520 | 2133/5061 | 711/1686 | chr15 | TogoVar |