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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS10_chr19_8575240_8615715 | 8603882 | G | A | splice_region_variant others(1): Show |
LOW | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0028a0001c0013t0001g0029 | 2 | 384 | 0.0052 | 0 | c.438 others(3): Show |
p.His others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 5/26 | 724/4251 | 438/3312 | 146/1103 | chr19 | TogoVar | ||
ADAMTS10_chr19_8575240_8615715 | 8605006 | G | A | splice_region_variant others(1): Show |
LOW | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0177 | 1 | 384 | 0.0026 | 0 | c.435 others(5): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 4/25 | chr19 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8608125 | T | TG | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(327): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0009others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(317): Show | 330 | 384 | 0.8594 | 1 | c.-10 others(14): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 2/25 | chr19 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33649702 | C | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(108): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0008others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0024others(108): Show | 111 | 224 | 0.4955 | 0 | c.119 others(6): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 7/23 | chr5 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133426349 | T | G | splice_region_variant others(1): Show |
LOW | HG01069.hp2 HG01071.hp1 HG03491.hp1 others(1): Show |
a0018a0019 | a0018c0024a0019c0025 | a0018c0024t0001a0019c0025t0001 | a0018c0024t0001g0023a0019c0025t0001g0125a0019c0025t0001g0126 | 4 | 364 | 0.0110 | 0 | c.686 others(5): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 6/28 | chr9 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133429936 | C | T | splice_region_variant others(1): Show |
LOW | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 364 | 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 |
a0002a0008a0023 | a0002c0040a0008c0012a0023c0053 | a0002c0040t0001a0008c0012t0001a0023c0053t0001 | a0002c0040t0001g0302a0008c0012t0001g0032a0008c0012t0001g0033others(4): Show | 7 | 364 | 0.0192 | 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 |
a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0022a0010c0015t0001g0067a0010c0015t0001g0264 | 4 | 364 | 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 | a0029 | a0029c0049 | a0029c0049t0001 | a0029c0049t0001g0163 | 1 | 364 | 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 | a0001c0012t0009g0003 | 1 | 354 | 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 | a0006c0042t0005g0005a0006c0042t0005g0006 | 2 | 354 | 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 | a0001c0012t0003g0102a0001c0012t0003g0114a0001c0012t0003g0228others(3): Show | 6 | 354 | 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 | a0001c0002t0034g0112 | 1 | 354 | 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 | a0003c0040t0002g0256 | 1 | 398 | 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 | a0011 | a0011c0032 | a0011c0032t0009 | a0011c0032t0009g0301 | 1 | 398 | 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 |
a0001a0033 | a0001c0010a0033c0043 | a0001c0010t0001a0033c0043t0023 | a0001c0010t0001g0063a0033c0043t0023g0141 | 2 | 332 | 0.0060 | 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(174): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0010a0001c0022others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(105): Show | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0025others(173): Show | 177 | 332 | 0.5331 | 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 | a0001c0001t0001g0042a0001c0001t0001g0071a0001c0001t0001g0320others(67): Show | 70 | 332 | 0.2108 | 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 | a0006c0029t0001g0023a0007c0027t0001g0251a0007c0027t0001g0255others(2): Show | 5 | 332 | 0.0151 | -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 | a0002c0005t0009g0203a0003c0006t0016g0172a0003c0017t0001g0242others(8): Show | 11 | 332 | 0.0331 | 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 | a0001c0001t0001g0042a0001c0001t0001g0049a0001c0001t0001g0071others(62): Show | 65 | 332 | 0.1958 | 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 | a0007c0061 | a0007c0061t0003 | a0007c0061t0003g0009 | 1 | 228 | 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(99): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0005a0001c0007others(41): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0065others(81): Show | a0001c0002t0002g0169a0001c0002t0004g0081a0001c0002t0004g0158others(99): Show | 102 | 228 | 0.4474 | 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(66): Show |
a0001a0002a0003others(7): Show | a0001c0018a0001c0046a0001c0047others(24): Show | a0001c0018t0010a0001c0018t0016a0001c0018t0070others(49): Show | a0001c0018t0010g0006a0001c0018t0010g0007a0001c0018t0016g0223others(66): Show | 69 | 228 | 0.3026 | 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 | 228 | 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 |
a0007a0021a0024 | a0007c0010a0021c0028a0024c0032 | a0007c0010t0032a0021c0028t0031a0024c0032t0018 | a0007c0010t0032g0310a0021c0028t0031g0306a0024c0032t0018g0175others(1): Show | 4 | 326 | 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 |
a0014a0040 | a0014c0015a0040c0064 | a0014c0015t0001a0040c0064t0001 | a0014c0015t0001g0226a0040c0064t0001g0208 | 2 | 326 | 0.0061 | 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 | a0003c0002t0026g0067a0003c0002t0027g0219 | 2 | 326 | 0.0061 | 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 | a0003c0002t0007g0071 | 1 | 326 | 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 | a0002c0007t0038a0003c0002t0006a0004c0003t0001others(13): Show | a0002c0007t0038g0095a0003c0002t0006g0214a0004c0003t0001g0229others(19): Show | 22 | 326 | 0.0675 | -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 | a0002c0007t0004a0002c0007t0005a0002c0007t0036others(55): Show | a0002c0007t0004g0070a0002c0007t0004g0125a0002c0007t0004g0133others(133): Show | 136 | 326 | 0.4172 | 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 | a0002c0007t0004a0002c0007t0005a0002c0007t0036others(30): Show | a0002c0007t0004g0070a0002c0007t0004g0165a0002c0007t0004g0267others(63): Show | 66 | 326 | 0.2025 | 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 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(13): Show | 16 | 226 | 0.0708 | 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 | a0001c0001t0001g0115a0001c0001t0001g0117a0001c0001t0001g0119others(30): Show | 33 | 226 | 0.1460 | 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 | 226 | 0.0044 | 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 | a0001c0005t0019a0001c0005t0037a0001c0005t0038others(1): Show | a0001c0005t0019g0021a0001c0005t0037g0062a0001c0005t0038g0063others(1): Show | 6 | 480 | 0.0125 | 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 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0040a0001c0001t0016g0093 | 3 | 480 | 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 | a0001c0003t0001g0132a0001c0003t0001g0133a0001c0003t0001g0134 | 3 | 306 | 0.0098 | 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 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0150 | 1 | 306 | 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 |
a0001a0006a0013others(1): Show | a0001c0001a0001c0003a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(102): Show | 105 | 306 | 0.3431 | 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 | 306 | 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 | 306 | 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 | a0009c0014t0001g0207a0009c0014t0001g0209 | 2 | 306 | 0.0065 | 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 | a0001c0002t0001g0117 | 1 | 306 | 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 |
a0001a0002a0016 | a0001c0001a0002c0004a0002c0026others(2): Show | a0001c0001t0001a0002c0004t0001a0002c0004t0002others(3): Show | a0001c0001t0001g0265a0001c0001t0001g0266a0002c0004t0001g0251others(20): Show | 23 | 306 | 0.0752 | -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 | a0004 | a0004c0102 | a0004c0102t0001 | a0004c0102t0001g0251 | 1 | 276 | 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 | a0036 | a0036c0081 | a0036c0081t0028 | a0036c0081t0028g0053 | 1 | 276 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0073a0001c0001t0002g0019a0001c0001t0002g0020others(1): Show | 4 | 182 | 0.0220 | 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(76): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0166others(76): Show | 79 | 182 | 0.4341 | -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 | a0002c0010t0084a0002c0010t0085a0003c0007t0017others(2): Show | a0002c0010t0084g0164a0002c0010t0085g0165a0003c0007t0017g0048others(2): Show | 6 | 374 | 0.0160 | 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 |