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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS7_chr15_78754206_78816464 | 78766049 | C | T | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(57): Show |
a0002a0013a0015others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0006others(53): Show | 60 | 380 | 0.1579 | 0 | c.386 others(4): Show |
p.Gly others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4106/5520 | 3862/5061 | 1288/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766103 | G | A | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(57): Show |
a0002a0013a0015others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0006others(53): Show | 60 | 380 | 0.1579 | 0 | c.380 others(4): Show |
p.Pro others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4052/5520 | 3808/5061 | 1270/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766186 | G | A | missense_variant | MODERATE | HG02965.hp2 | a0059 | a0059c0074 | a0059c0074t0012 | a0059c0074t0012g0354 | 1 | 380 | 0.0026 | 0 | c.372 others(4): Show |
p.Pro others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3969/5520 | 3725/5061 | 1242/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766199 | A | G | missense_variant | MODERATE | HG02040.hp1 HG02083.hp1 HG02155.hp2 others(7): Show |
a0012a0029a0057others(1): Show | a0012c0019a0012c0093a0012c0104others(3): Show | a0012c0019t0001a0012c0093t0001a0012c0104t0001others(3): Show | a0012c0019t0001g0245a0012c0019t0001g0285a0012c0019t0001g0300others(7): Show | 10 | 380 | 0.0263 | 0 | c.371 others(4): Show |
p.Ser others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3956/5520 | 3712/5061 | 1238/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766247 | C | T | missense_variant | MODERATE | HG03579.hp2 | a0057 | a0057c0094 | a0057c0094t0001 | a0057c0094t0001g0314 | 1 | 380 | 0.0026 | 0 | c.366 others(4): Show |
p.Glu others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3908/5520 | 3664/5061 | 1222/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766346 | T | C | missense_variant | MODERATE | HG02015.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
a0028a0056a0069 | a0028c0036a0056c0078a0069c0056 | a0028c0036t0001a0056c0078t0001a0069c0056t0003 | a0028c0036t0001g0348a0028c0036t0001g0349a0056c0078t0001g0347others(1): Show | 4 | 380 | 0.0105 | 0 | c.356 others(4): Show |
p.Thr others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3809/5520 | 3565/5061 | 1189/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766351 | G | A | missense_variant | MODERATE | HG02015.hp2 | a0069 | a0069c0056 | a0069c0056t0003 | a0069c0056t0003g0184 | 1 | 380 | 0.0026 | 0 | c.356 others(4): Show |
p.Pro others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3804/5520 | 3560/5061 | 1187/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766388 | A | G | missense_variant | MODERATE | HG01099.hp1 HG01167.hp1 HG01358.hp1 others(3): Show |
a0020a0024a0041 | a0020c0025a0024c0037a0041c0118 | a0020c0025t0001a0024c0037t0001a0041c0118t0001 | a0020c0025t0001g0050a0020c0025t0001g0051a0020c0025t0001g0054others(3): Show | 6 | 380 | 0.0158 | 0 | c.352 others(4): Show |
p.Ser others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3767/5520 | 3523/5061 | 1175/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766537 | A | G | missense_variant | MODERATE | HG01099.hp1 HG01167.hp1 HG01255.hp1 others(5): Show |
a0020a0024a0037others(2): Show | a0020c0025a0024c0037a0037c0110others(2): Show | a0020c0025t0001a0024c0037t0001a0037c0110t0002others(2): Show | a0020c0025t0001g0050a0020c0025t0001g0051a0020c0025t0001g0054others(5): Show | 8 | 380 | 0.0211 | 0 | c.337 others(4): Show |
p.Leu others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3618/5520 | 3374/5061 | 1125/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766538 | G | T | missense_variant | MODERATE | HG01099.hp1 HG01167.hp1 HG01255.hp1 others(4): Show |
a0020a0024a0041others(1): Show | a0020c0025a0024c0037a0041c0118others(1): Show | a0020c0025t0001a0024c0037t0001a0041c0118t0001others(1): Show | a0020c0025t0001g0050a0020c0025t0001g0051a0020c0025t0001g0054others(4): Show | 7 | 380 | 0.0184 | 0 | c.337 others(4): Show |
p.Leu others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3617/5520 | 3373/5061 | 1125/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766540 | A | G | missense_variant | MODERATE | HG01099.hp1 HG01167.hp1 HG01255.hp1 others(5): Show |
a0020a0024a0037others(2): Show | a0020c0025a0024c0037a0037c0110others(2): Show | a0020c0025t0001a0024c0037t0001a0037c0110t0002others(2): Show | a0020c0025t0001g0050a0020c0025t0001g0051a0020c0025t0001g0054others(5): Show | 8 | 380 | 0.0211 | 0 | c.337 others(4): Show |
p.Val others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3615/5520 | 3371/5061 | 1124/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766609 | T | C | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(86): Show |
a0005a0008a0011others(24): Show | a0005c0005a0005c0047a0005c0108others(30): Show | a0005c0005t0002a0005c0005t0011a0005c0047t0002others(31): Show | a0005c0005t0002g0007a0005c0005t0002g0009a0005c0005t0002g0116others(83): Show | 89 | 380 | 0.2342 | 0 | c.330 others(4): Show |
p.His others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3546/5520 | 3302/5061 | 1101/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766618 | G | A | missense_variant | MODERATE | HG00673.hp2 HG01361.hp2 HG01943.hp1 others(16): Show |
a0009a0013a0042others(1): Show | a0009c0009a0013c0015a0042c0117others(1): Show | a0009c0009t0001a0013c0015t0001a0042c0117t0001others(1): Show | a0009c0009t0001g0016a0009c0009t0001g0026a0009c0009t0001g0037others(15): Show | 19 | 380 | 0.0500 | 0 | c.329 others(4): Show |
p.Pro others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3537/5520 | 3293/5061 | 1098/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766630 | C | T | missense_variant | MODERATE | NA18906.hp1 NA20129.hp2 |
a0023 | a0023c0046 | a0023c0046t0001 | a0023c0046t0001g0153a0023c0046t0001g0155 | 2 | 380 | 0.0053 | 0 | c.328 others(4): Show |
p.Arg others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3525/5520 | 3281/5061 | 1094/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766645 | G | A | missense_variant | MODERATE | HG02717.hp1 | a0054 | a0054c0092 | a0054c0092t0001 | a0054c0092t0001g0244 | 1 | 380 | 0.0026 | 0 | c.326 others(4): Show |
p.Ala others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3510/5520 | 3266/5061 | 1089/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766825 | C | T | missense_variant | MODERATE | HG02027.hp2 | a0065 | a0065c0067 | a0065c0067t0001 | a0065c0067t0001g0063 | 1 | 380 | 0.0026 | 0 | c.308 others(4): Show |
p.Arg others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3330/5520 | 3086/5061 | 1029/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766840 | T | C | missense_variant | MODERATE | HG00408.hp1 HG01255.hp2 HG03486.hp1 |
a0055a0056a0072 | a0055c0064a0056c0078a0072c0072 | a0055c0064t0001a0056c0078t0001a0072c0072t0013 | a0055c0064t0001g0229a0056c0078t0001g0347a0072c0072t0013g0358 | 3 | 380 | 0.0079 | 0 | c.307 others(4): Show |
p.His others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3315/5520 | 3071/5061 | 1024/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766856 | C | T | missense_variant | MODERATE | HG03579.hp1 | a0038 | a0038c0109 | a0038c0109t0002 | a0038c0109t0002g0113 | 1 | 380 | 0.0026 | 0 | c.305 others(4): Show |
p.Ala others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3299/5520 | 3055/5061 | 1019/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766928 | G | A | missense_variant | MODERATE | HG03579.hp1 NA20300.hp1 |
a0037a0038 | a0037c0110a0038c0109 | a0037c0110t0002a0038c0109t0002 | a0037c0110t0002g0147a0038c0109t0002g0113 | 2 | 380 | 0.0053 | 0 | c.298 others(4): Show |
p.Arg others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3227/5520 | 2983/5061 | 995/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78766999 | T | C | missense_variant | MODERATE | NA18968.hp1 | a0060 | a0060c0054 | a0060c0054t0001 | a0060c0054t0001g0042 | 1 | 380 | 0.0026 | 0 | c.291 others(4): Show |
p.Asn others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3156/5520 | 2912/5061 | 971/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78767002 | G | A | missense_variant | MODERATE | NA18968.hp1 | a0060 | a0060c0054 | a0060c0054t0001 | a0060c0054t0001g0042 | 1 | 380 | 0.0026 | 0 | c.290 others(4): Show |
p.Thr others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3153/5520 | 2909/5061 | 970/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78767422 | T | C | missense_variant | MODERATE | NA18973.hp1 | a0064 | a0064c0055 | a0064c0055t0001 | a0064c0055t0001g0206 | 1 | 380 | 0.0026 | 0 | c.281 others(4): Show |
p.His others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 18/24 | 3060/5520 | 2816/5061 | 939/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78768226 | C | T | missense_variant | MODERATE | HG02965.hp2 | a0059 | a0059c0074 | a0059c0074t0012 | a0059c0074t0012g0354 | 1 | 380 | 0.0026 | 0 | c.255 others(4): Show |
p.Arg others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 17/24 | 2796/5520 | 2552/5061 | 851/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78771650 | C | T | missense_variant | MODERATE | HG03579.hp2 | a0057 | a0057c0094 | a0057c0094t0001 | a0057c0094t0001g0314 | 1 | 380 | 0.0026 | 0 | c.231 others(4): Show |
p.Ala others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 15/24 | 2555/5520 | 2311/5061 | 771/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78773167 | T | C | missense_variant | MODERATE | HG02109.hp2 HG02818.hp2 |
a0039a0040 | a0039c0111a0040c0112 | a0039c0111t0001a0040c0112t0001 | a0039c0111t0001g0150a0040c0112t0001g0149 | 2 | 380 | 0.0053 | 0 | c.204 others(4): Show |
p.Met others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 14/24 | 2291/5520 | 2047/5061 | 683/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78774243 | C | T | missense_variant | MODERATE | NA18906.hp1 NA20129.hp2 |
a0023 | a0023c0046 | a0023c0046t0001 | a0023c0046t0001g0153a0023c0046t0001g0155 | 2 | 380 | 0.0053 | 0 | c.193 others(4): Show |
p.Arg others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 13/24 | 2178/5520 | 1934/5061 | 645/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78774713 | C | T | missense_variant | MODERATE | HG00323.hp1 HG00609.hp2 HG00733.hp2 others(73): Show |
a0005a0007a0011others(20): Show | a0005c0005a0005c0047a0005c0108others(30): Show | a0005c0005t0002a0005c0005t0011a0005c0047t0002others(31): Show | a0005c0005t0002g0007a0005c0005t0002g0009a0005c0005t0002g0116others(70): Show | 76 | 380 | 0.2000 | 0 | c.178 others(4): Show |
p.Arg others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 12/24 | 2031/5520 | 1787/5061 | 596/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78776228 | T | C | missense_variant | MODERATE | HG02717.hp2 HG02895.hp1 HG02896.hp2 |
a0022 | a0022c0020 | a0022c0020t0001 | a0022c0020t0001g0020a0022c0020t0001g0353 | 3 | 380 | 0.0079 | 0 | c.166 others(4): Show |
p.Met others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 11/24 | 1910/5520 | 1666/5061 | 556/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78776765 | C | T | missense_variant | MODERATE | NA18939.hp1 | a0048 | a0048c0090 | a0048c0090t0001 | a0048c0090t0001g0307 | 1 | 380 | 0.0026 | 0 | c.154 others(4): Show |
p.Arg others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 10/24 | 1788/5520 | 1544/5061 | 515/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78777523 | G | A | missense_variant | MODERATE | HG01175.hp1 | a0047 | a0047c0086 | a0047c0086t0001 | a0047c0086t0001g0031 | 1 | 380 | 0.0026 | 0 | c.138 others(4): Show |
p.Pro others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 9/24 | 1632/5520 | 1388/5061 | 463/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78777539 | C | T | missense_variant | MODERATE | NA18944.hp2 NA18964.hp1 NA18973.hp2 others(4): Show |
a0016a0033 | a0016c0017a0016c0079a0033c0028 | a0016c0017t0001a0016c0079t0001a0033c0028t0001 | a0016c0017t0001g0203a0016c0017t0001g0204a0016c0017t0001g0210others(4): Show | 7 | 380 | 0.0184 | 0 | c.137 others(4): Show |
p.Asp others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 9/24 | 1616/5520 | 1372/5061 | 458/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78777563 | C | T | missense_variant | MODERATE | HG01243.hp1 | a0046 | a0046c0121 | a0046c0121t0001 | a0046c0121t0001g0044 | 1 | 380 | 0.0026 | 0 | c.134 others(4): Show |
p.Asp others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 9/24 | 1592/5520 | 1348/5061 | 450/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78788282 | G | A | missense_variant | MODERATE | HG02257.hp2 HG02559.hp1 HG03471.hp2 |
a0034a0073 | a0034c0035a0073c0076 | a0034c0035t0007a0073c0076t0007 | a0034c0035t0007g0356a0034c0035t0007g0357a0073c0076t0007g0355 | 3 | 380 | 0.0079 | 0 | c.127 others(4): Show |
p.Ala others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 8/24 | 1515/5520 | 1271/5061 | 424/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78789690 | T | G | missense_variant others(1): Show |
MODERATE | NA19077.hp2 | a0058 | a0058c0063 | a0058c0063t0001 | a0058c0063t0001g0217 | 1 | 380 | 0.0026 | 0 | c.117 others(4): Show |
p.Ser others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 7/24 | 1421/5520 | 1177/5061 | 393/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78790778 | G | A | missense_variant | MODERATE | HG00140.hp2 HG00280.hp2 HG00438.hp2 others(122): Show |
a0001a0009a0012others(24): Show | a0001c0002a0001c0006a0001c0014others(43): Show | a0001c0002t0001a0001c0002t0008a0001c0006t0001others(44): Show | a0001c0002t0001g0014a0001c0002t0001g0015a0001c0002t0001g0053others(116): Show | 125 | 380 | 0.3290 | 0 | c.920 others(3): Show |
p.Thr others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 6/24 | 1164/5520 | 920/5061 | 307/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78796769 | A | G | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(74): Show |
a0005a0006a0008others(14): Show | a0005c0005a0005c0047a0005c0108others(20): Show | a0005c0005t0002a0005c0005t0011a0005c0047t0002others(21): Show | a0005c0005t0002g0007a0005c0005t0002g0009a0005c0005t0002g0116others(69): Show | 77 | 380 | 0.2026 | 0 | c.640 others(3): Show |
p.Ser others(6): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 4/24 | 884/5520 | 640/5061 | 214/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78800526 | G | T | missense_variant | MODERATE | HG03098.hp2 | a0074 | a0074c0048 | a0074c0048t0004 | a0074c0048t0004g0252 | 1 | 380 | 0.0026 | 0 | c.122 others(3): Show |
p.Ala others(5): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 2/24 | 366/5520 | 122/5061 | 41/1686 | chr15 | TogoVar | ||
ADAMTS8_chr11_130399923_130433609 | 130405645 | G | C | missense_variant | MODERATE | NA18970.hp1 | a0031 | a0031c0029 | a0031c0029t0002 | a0031c0029t0002g0149 | 1 | 424 | 0.0024 | 0 | c.258 others(4): Show |
p.Asp others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 9/9 | 2906/3628 | 2583/2670 | 861/889 | chr11 | TogoVar | ||
ADAMTS8_chr11_130399923_130433609 | 130405782 | T | A | missense_variant | MODERATE | HG02965.hp2 HG03516.hp1 |
a0018 | a0018c0019 | a0018c0019t0003 | a0018c0019t0003g0032 | 2 | 424 | 0.0047 | 0 | c.244 others(4): Show |
p.Met others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 9/9 | 2769/3628 | 2446/2670 | 816/889 | chr11 | TogoVar | ||
ADAMTS8_chr11_130399923_130433609 | 130405854 | T | C | missense_variant | MODERATE | HG00639.hp2 HG00733.hp1 HG00735.hp1 others(25): Show |
a0007a0010a0014 | a0007c0008a0010c0011a0014c0018others(1): Show | a0007c0008t0001a0010c0011t0002a0014c0018t0002others(1): Show | a0007c0008t0001g0002a0007c0008t0001g0028a0007c0008t0001g0029others(16): Show | 28 | 424 | 0.0660 | 0 | c.237 others(4): Show |
p.Thr others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 9/9 | 2697/3628 | 2374/2670 | 792/889 | chr11 | TogoVar | ||
ADAMTS8_chr11_130399923_130433609 | 130405899 | G | T | missense_variant | MODERATE | NA19011.hp2 | a0026 | a0026c0044 | a0026c0044t0003 | a0026c0044t0003g0188 | 1 | 424 | 0.0024 | 0 | c.232 others(4): Show |
p.Gln others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 9/9 | 2652/3628 | 2329/2670 | 777/889 | chr11 | TogoVar | ||
ADAMTS8_chr11_130399923_130433609 | 130411593 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(298): Show |
a0001a0003a0005others(17): Show | a0001c0001a0001c0025a0001c0027others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(41): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(211): Show | 301 | 424 | 0.7099 | 0 | c.157 others(4): Show |
p.Ala others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 6/9 | 1897/3628 | 1574/2670 | 525/889 | chr11 | TogoVar | ||
ADAMTS8_chr11_130399923_130433609 | 130414724 | G | T | missense_variant | MODERATE | HG01496.hp1 NA21309.hp1 |
a0019 | a0019c0021 | a0019c0021t0007a0019c0021t0008 | a0019c0021t0007g0302a0019c0021t0008g0303 | 2 | 424 | 0.0047 | 0 | c.137 others(4): Show |
p.Pro others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 5/9 | 1696/3628 | 1373/2670 | 458/889 | chr11 | TogoVar | ||
ADAMTS8_chr11_130399923_130433609 | 130416270 | A | G | missense_variant | MODERATE | HG03195.hp1 | a0027 | a0027c0041 | a0027c0041t0007 | a0027c0041t0007g0310 | 1 | 424 | 0.0024 | 0 | c.115 others(4): Show |
p.Met others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 4/9 | 1480/3628 | 1157/2670 | 386/889 | chr11 | TogoVar | ||
ADAMTS8_chr11_130399923_130433609 | 130416985 | C | T | missense_variant | MODERATE | HG02280.hp1 | a0020 | a0020c0048 | a0020c0048t0002 | a0020c0048t0002g0296 | 1 | 424 | 0.0024 | 0 | c.105 others(4): Show |
p.Glu others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 3/9 | 1374/3628 | 1051/2670 | 351/889 | chr11 | TogoVar | ||
ADAMTS8_chr11_130399923_130433609 | 130419222 | T | C | missense_variant | MODERATE | HG00621.hp2 HG00741.hp2 HG01243.hp2 others(39): Show |
a0006a0009a0012others(6): Show | a0006c0007a0006c0040a0009c0010others(7): Show | a0006c0007t0002a0006c0007t0004a0006c0007t0008others(14): Show | a0006c0007t0002g0197a0006c0007t0002g0220a0006c0007t0002g0221others(38): Show | 42 | 424 | 0.0991 | 0 | c.791 others(3): Show |
p.Asn others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 2/9 | 1114/3628 | 791/2670 | 264/889 | chr11 | TogoVar | ||
ADAMTS8_chr11_130399923_130433609 | 130427746 | C | G | missense_variant | MODERATE | HG01928.hp2 | a0032 | a0032c0026 | a0032c0026t0001 | a0032c0026t0001g0052 | 1 | 424 | 0.0024 | 0 | c.541 others(3): Show |
p.Asp others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 1/9 | 864/3628 | 541/2670 | 181/889 | chr11 | TogoVar | ||
ADAMTS8_chr11_130399923_130433609 | 130427853 | G | C | missense_variant | MODERATE | HG00544.hp2 HG00621.hp1 HG00733.hp2 others(31): Show |
a0005a0011a0017others(2): Show | a0005c0006a0011c0013a0011c0022others(3): Show | a0005c0006t0002a0005c0006t0003a0005c0006t0004others(7): Show | a0005c0006t0002g0247a0005c0006t0002g0251a0005c0006t0002g0253others(29): Show | 34 | 424 | 0.0802 | 0 | c.434 others(3): Show |
p.Ala others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 1/9 | 757/3628 | 434/2670 | 145/889 | chr11 | TogoVar | ||
ADAMTS8_chr11_130399923_130433609 | 130427892 | T | G | missense_variant | MODERATE | NA18942.hp2 NA19004.hp1 |
a0029a0030 | a0029c0033a0030c0034 | a0029c0033t0001a0030c0034t0001 | a0029c0033t0001g0140a0030c0034t0001g0141 | 2 | 424 | 0.0047 | 0 | c.395 others(3): Show |
p.Glu others(6): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 1/9 | 718/3628 | 395/2670 | 132/889 | chr11 | TogoVar | ||
ADAMTS8_chr11_130399923_130433609 | 130428053 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(194): Show |
a0001a0004a0007others(9): Show | a0001c0001a0001c0025a0001c0027others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(123): Show | 197 | 424 | 0.4646 | 0 | c.234 others(3): Show |
p.Glu others(5): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 1/9 | 557/3628 | 234/2670 | 78/889 | chr11 | TogoVar |