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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS13_chr9_133417367_133464386 | 133445796 | C | T | missense_variant | MODERATE | HG00558.hp2 HG02129.hp2 NA18747.hp2 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0001a0005c0007t0001g0019a0005c0007t0001g0055others(1): Show | 8 | 364 | 0.0220 | 0 | c.270 others(4): Show |
p.Ser others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 21/29 | 2785/4399 | 2708/4116 | 903/1371 | chr9 | TogoVar | ||
ADAMTS13_chr9_133417367_133464386 | 133449811 | G | A | missense_variant | MODERATE | NA19043.hp1 | a0027 | a0027c0043 | a0027c0043t0001 | a0027c0043t0001g0068 | 1 | 364 | 0.0028 | 0 | c.289 others(4): Show |
p.Val others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 23/29 | 2967/4399 | 2890/4116 | 964/1371 | chr9 | TogoVar | ||
ADAMTS13_chr9_133417367_133464386 | 133454467 | G | A | missense_variant | MODERATE | HG00280.hp2 HG00733.hp2 HG01167.hp1 others(4): Show |
a0009a0017 | a0009c0013a0017c0022 | a0009c0013t0001a0017c0022t0001 | a0009c0013t0001g0011a0009c0013t0001g0071a0009c0013t0001g0073others(3): Show | 7 | 364 | 0.0192 | 0 | c.309 others(4): Show |
p.Ala others(7): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 24/29 | 3174/4399 | 3097/4116 | 1033/1371 | chr9 | TogoVar | ||
ADAMTS13_chr9_133417367_133464386 | 133454537 | C | G | missense_variant | MODERATE | NA19043.hp1 | a0027 | a0027c0043 | a0027c0043t0001 | a0027c0043t0001g0068 | 1 | 364 | 0.0028 | 0 | c.316 others(4): Show |
p.Ala others(7): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 24/29 | 3244/4399 | 3167/4116 | 1056/1371 | chr9 | TogoVar | ||
ADAMTS13_chr9_133417367_133464386 | 133455322 | G | A | missense_variant | MODERATE | HG00741.hp2 HG01074.hp1 HG01099.hp1 others(6): Show |
a0007a0013 | a0007c0009a0013c0016 | a0007c0009t0001a0013c0016t0001 | a0007c0009t0001g0206a0007c0009t0001g0246a0007c0009t0001g0247others(6): Show | 9 | 364 | 0.0247 | 0 | c.328 others(4): Show |
p.Arg others(7): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 25/29 | 3364/4399 | 3287/4116 | 1096/1371 | 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 | ||
ADAMTS13_chr9_133417367_133464386 | 133456653 | G | A | missense_variant | MODERATE | HG02818.hp1 HG02818.hp2 HG02886.hp2 others(1): Show |
a0016a0023a0024 | a0016c0021a0023c0053a0024c0055 | a0016c0021t0001a0023c0053t0001a0024c0055t0001 | a0016c0021t0001g0190a0016c0021t0001g0197a0023c0053t0001g0300others(1): Show | 4 | 364 | 0.0110 | 0 | c.365 others(4): Show |
p.Gly others(7): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 27/29 | 3735/4399 | 3658/4116 | 1220/1371 | chr9 | TogoVar | ||
ADAMTS13_chr9_133417367_133464386 | 133457958 | C | T | missense_variant | MODERATE | HG00558.hp1 | a0028 | a0028c0048 | a0028c0048t0001 | a0028c0048t0001g0294 | 1 | 364 | 0.0028 | 0 | c.377 others(4): Show |
p.Ser others(7): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 28/29 | 3850/4399 | 3773/4116 | 1258/1371 | chr9 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70672831 | A | T | missense_variant | MODERATE | HG00423.hp2 HG00609.hp1 HG02165.hp1 others(1): Show |
a0011 | a0011c0022 | a0011c0022t0005 | a0011c0022t0005g0014a0011c0022t0005g0015a0011c0022t0005g0016others(1): Show | 4 | 354 | 0.0113 | 0 | c.29A others(2): Show |
p.Tyr others(5): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1/22 | 326/5557 | 29/3672 | 10/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70674708 | C | T | missense_variant | MODERATE | HG01243.hp2 HG02630.hp1 HG02630.hp2 others(6): Show |
a0010a0019a0032others(1): Show | a0010c0043a0010c0093a0010c0094others(4): Show | a0010c0043t0031a0010c0093t0049a0010c0094t0050others(4): Show | a0010c0043t0031g0063a0010c0043t0031g0064a0010c0093t0049g0061others(6): Show | 9 | 354 | 0.0254 | 0 | c.235 others(3): Show |
p.His others(5): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/22 | 532/5557 | 235/3672 | 79/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70674813 | G | C | missense_variant | MODERATE | HG02155.hp2 | a0031 | a0031c0045 | a0031c0045t0001 | a0031c0045t0001g0162 | 1 | 354 | 0.0028 | 0 | c.340 others(3): Show |
p.Gly others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/22 | 637/5557 | 340/3672 | 114/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70674837 | C | T | missense_variant | MODERATE | NA19065.hp1 NA19085.hp1 |
a0018 | a0018c0091a0018c0092 | a0018c0091t0002a0018c0092t0004 | a0018c0091t0002g0315a0018c0092t0004g0335 | 2 | 354 | 0.0057 | 0 | c.364 others(3): Show |
p.Arg others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/22 | 661/5557 | 364/3672 | 122/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70674846 | C | T | missense_variant | MODERATE | HG03098.hp2 | a0033 | a0033c0095 | a0033c0095t0020 | a0033c0095t0020g0060 | 1 | 354 | 0.0028 | 0 | c.373 others(3): Show |
p.Arg others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/22 | 670/5557 | 373/3672 | 125/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70702339 | G | A | missense_variant | MODERATE | HG00735.hp2 HG01070.hp2 HG01081.hp1 others(8): Show |
a0009a0014a0029others(1): Show | a0009c0023a0009c0050a0009c0051others(5): Show | a0009c0023t0003a0009c0050t0015a0009c0051t0002others(5): Show | a0009c0023t0003g0252a0009c0023t0003g0254a0009c0023t0003g0256others(8): Show | 11 | 354 | 0.0311 | 0 | c.550 others(3): Show |
p.Asp others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 3/22 | 847/5557 | 550/3672 | 184/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70702363 | C | T | missense_variant | MODERATE | NA18747.hp2 NA19012.hp1 |
a0027a0028 | a0027c0086a0028c0085 | a0027c0086t0006a0028c0085t0002 | a0027c0086t0006g0126a0028c0085t0002g0127 | 2 | 354 | 0.0057 | 0 | c.574 others(3): Show |
p.Arg others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 3/22 | 871/5557 | 574/3672 | 192/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70702415 | G | A | missense_variant | MODERATE | NA20805.hp1 | a0020 | a0020c0053 | a0020c0053t0024 | a0020c0053t0024g0204 | 1 | 354 | 0.0028 | 0 | c.626 others(3): Show |
p.Arg others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 3/22 | 923/5557 | 626/3672 | 209/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70708717 | C | T | missense_variant | MODERATE | HG02109.hp2 HG02258.hp1 HG02615.hp2 others(9): Show |
a0008a0012a0015 | a0008c0011a0012c0029a0012c0082others(2): Show | a0008c0011t0005a0012c0029t0008a0012c0029t0038others(3): Show | a0008c0011t0005g0039a0008c0011t0005g0040a0008c0011t0005g0041others(9): Show | 12 | 354 | 0.0339 | 0 | c.809 others(3): Show |
p.Ser others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 4/22 | 1106/5557 | 809/3672 | 270/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70729331 | A | G | missense_variant | MODERATE | HG03098.hp1 HG03579.hp2 |
a0019 | a0019c0044 | a0019c0044t0003 | a0019c0044t0003g0302a0019c0044t0003g0303 | 2 | 354 | 0.0057 | 0 | c.908 others(3): Show |
p.His others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 5/22 | 1205/5557 | 908/3672 | 303/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70729352 | G | A | missense_variant | MODERATE | HG02165.hp2 | a0021 | a0021c0054 | a0021c0054t0023 | a0021c0054t0023g0319 | 1 | 354 | 0.0028 | 0 | c.929 others(3): Show |
p.Arg others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 5/22 | 1226/5557 | 929/3672 | 310/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70736769 | T | A | missense_variant | MODERATE | HG02922.hp2 | a0030 | a0030c0046 | a0030c0046t0003 | a0030c0046t0003g0250 | 1 | 354 | 0.0028 | 0 | c.157 others(4): Show |
p.Asp others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 10/22 | 1872/5557 | 1575/3672 | 525/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70741007 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show |
a0001a0002a0004others(20): Show | a0001c0002a0001c0004a0001c0005others(68): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0013others(119): Show | a0001c0002t0002g0110a0001c0002t0002g0113a0001c0002t0002g0116others(284): Show | 288 | 354 | 0.8136 | 0 | c.176 others(4): Show |
p.Leu others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 12/22 | 2066/5557 | 1769/3672 | 590/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70749884 | C | T | missense_variant | MODERATE | HG01255.hp1 | a0026 | a0026c0056 | a0026c0056t0039 | a0026c0056t0039g0076 | 1 | 354 | 0.0028 | 0 | c.232 others(4): Show |
p.Arg others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 16/22 | 2623/5557 | 2326/3672 | 776/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70749921 | C | T | missense_variant | MODERATE | HG03654.hp1 HG03710.hp1 |
a0017 | a0017c0036 | a0017c0036t0008a0017c0036t0009 | a0017c0036t0008g0028a0017c0036t0009g0082 | 2 | 354 | 0.0057 | 0 | c.236 others(4): Show |
p.Ala others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 16/22 | 2660/5557 | 2363/3672 | 788/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70753879 | C | A | missense_variant | MODERATE | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(47): Show |
a0004a0005a0007others(2): Show | a0004c0006a0004c0010a0004c0014others(11): Show | a0004c0006t0004a0004c0006t0012a0004c0006t0029others(19): Show | a0004c0006t0004g0115a0004c0006t0004g0157a0004c0006t0004g0159others(46): Show | 50 | 354 | 0.1412 | 0 | c.280 others(4): Show |
p.Leu others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 19/22 | 3106/5557 | 2809/3672 | 937/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70753964 | G | A | missense_variant | MODERATE | NA19082.hp2 | a0023 | a0023c0062 | a0023c0062t0001 | a0023c0062t0001g0284 | 1 | 354 | 0.0028 | 0 | c.289 others(4): Show |
p.Arg others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 19/22 | 3191/5557 | 2894/3672 | 965/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70758074 | G | A | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(89): Show |
a0002a0006a0007others(7): Show | a0002c0001a0002c0024a0002c0037others(16): Show | a0002c0001t0001a0002c0001t0005a0002c0001t0022others(26): Show | a0002c0001t0001g0100a0002c0001t0001g0103a0002c0001t0001g0108others(89): Show | 92 | 354 | 0.2599 | 0 | c.305 others(4): Show |
p.Ser others(7): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 20/22 | 3347/5557 | 3050/3672 | 1017/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70758253 | A | G | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(91): Show |
a0002a0006a0007others(8): Show | a0002c0001a0002c0024a0002c0037others(17): Show | a0002c0001t0001a0002c0001t0005a0002c0001t0022others(28): Show | a0002c0001t0001g0100a0002c0001t0001g0103a0002c0001t0001g0108others(91): Show | 94 | 354 | 0.2655 | 0 | c.314 others(4): Show |
p.Glu others(7): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 21/22 | 3443/5557 | 3146/3672 | 1049/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70760498 | C | T | missense_variant | MODERATE | HG01168.hp2 HG01261.hp2 HG02615.hp1 others(1): Show |
a0013 | a0013c0020 | a0013c0020t0002a0013c0020t0007 | a0013c0020t0002g0120a0013c0020t0002g0206a0013c0020t0002g0214others(1): Show | 4 | 354 | 0.0113 | 0 | c.331 others(4): Show |
p.Pro others(7): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 22/22 | 3614/5557 | 3317/3672 | 1106/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70760503 | C | T | missense_variant | MODERATE | HG00621.hp2 HG01106.hp2 HG02015.hp1 others(11): Show |
a0005a0024 | a0005c0008a0005c0009a0024c0065 | a0005c0008t0003a0005c0008t0056a0005c0009t0008others(3): Show | a0005c0008t0003g0278a0005c0008t0003g0316a0005c0008t0003g0317others(11): Show | 14 | 354 | 0.0396 | 0 | c.332 others(4): Show |
p.Pro others(7): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 22/22 | 3619/5557 | 3322/3672 | 1108/1223 | chr10 | TogoVar | ||
ADAMTS14_chr10_70667506_70767441 | 70760621 | G | A | missense_variant | MODERATE | NA18982.hp2 | a0025 | a0025c0066 | a0025c0066t0002 | a0025c0066t0002g0164 | 1 | 354 | 0.0028 | 0 | c.344 others(4): Show |
p.Arg others(7): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 22/22 | 3737/5557 | 3440/3672 | 1147/1223 | chr10 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130449014 | G | C | missense_variant | MODERATE | HG02886.hp1 | a0009 | a0009c0020 | a0009c0020t0012 | a0009c0020t0012g0343 | 1 | 398 | 0.0025 | 0 | c.41G others(2): Show |
p.Arg others(5): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 1/8 | 370/6006 | 41/2853 | 14/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130449211 | T | G | missense_variant | MODERATE | HG02145.hp2 HG02257.hp2 HG02630.hp1 others(2): Show |
a0004 | a0004c0010a0004c0022a0004c0023 | a0004c0010t0005a0004c0010t0013a0004c0010t0020others(2): Show | a0004c0010t0005g0092a0004c0010t0013g0090a0004c0010t0020g0089others(2): Show | 5 | 398 | 0.0126 | 0 | c.238 others(3): Show |
p.Ser others(5): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 1/8 | 567/6006 | 238/2853 | 80/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130449370 | G | C | missense_variant | MODERATE | HG02132.hp1 HG02523.hp2 NA18941.hp2 others(3): Show |
a0005a0019 | a0005c0011a0005c0015a0019c0024 | a0005c0011t0002a0005c0011t0034a0005c0015t0001others(2): Show | a0005c0011t0002g0288a0005c0011t0002g0309a0005c0011t0034g0223others(3): Show | 6 | 398 | 0.0151 | 0 | c.397 others(3): Show |
p.Glu others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 1/8 | 726/6006 | 397/2853 | 133/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130449560 | C | G | missense_variant | MODERATE | NA19078.hp1 | a0018 | a0018c0041 | a0018c0041t0007 | a0018c0041t0007g0157 | 1 | 398 | 0.0025 | 0 | c.587 others(3): Show |
p.Ala others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 1/8 | 916/6006 | 587/2853 | 196/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461507 | A | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.976 others(3): Show |
p.Thr others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1305/6006 | 976/2853 | 326/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461510 | T | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.979 others(3): Show |
p.Cys others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1308/6006 | 979/2853 | 327/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461511 | G | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.980 others(3): Show |
p.Cys others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1309/6006 | 980/2853 | 327/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461513 | G | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.982 others(3): Show |
p.Asp others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1311/6006 | 982/2853 | 328/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461514 | A | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.983 others(3): Show |
p.Asp others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1312/6006 | 983/2853 | 328/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461516 | A | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.985 others(3): Show |
p.Thr others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1314/6006 | 985/2853 | 329/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461520 | T | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.989 others(3): Show |
p.Leu others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1318/6006 | 989/2853 | 330/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461522 | G | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.991 others(3): Show |
p.Gly others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1320/6006 | 991/2853 | 331/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461523 | G | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.992 others(3): Show |
p.Gly others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1321/6006 | 992/2853 | 331/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461525 | A | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.994 others(3): Show |
p.Met others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1323/6006 | 994/2853 | 332/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461526 | T | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.995 others(3): Show |
p.Met others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1324/6006 | 995/2853 | 332/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461527 | G | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.996 others(3): Show |
p.Met others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1325/6006 | 996/2853 | 332/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461528 | G | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.997 others(3): Show |
p.Ala others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1326/6006 | 997/2853 | 333/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461531 | G | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.100 others(4): Show |
p.Asp others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1329/6006 | 1000/2853 | 334/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461532 | A | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.100 others(4): Show |
p.Asp others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1330/6006 | 1001/2853 | 334/950 | chr11 | TogoVar | ||
ADAMTS15_chr11_130443645_130481645 | 130461534 | G | C | missense_variant | MODERATE | NA19078.hp2 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0291 | 1 | 398 | 0.0025 | 0 | c.100 others(4): Show |
p.Val others(6): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2/8 | 1332/6006 | 1003/2853 | 335/950 | chr11 | TogoVar |