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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS7_chr15_78754206_78816464 | 78765671 | C | G | missense_variant | MODERATE | HG06807.hp2 | a0029 | a0029c0115 | a0029c0115t0001 | a0029c0115t0001g0146 | 1 | 136 | 0.0074 | 0 | c.424 others(4): Show |
p.Gly others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4484/5520 | 4240/5061 | 1414/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765671 | C | T | missense_variant | MODERATE | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(239): Show |
a0002a0003a0004others(44): Show | a0002c0001a0002c0068a0002c0069others(66): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(73): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(219): Show |
242 | 377 | 0.6419 | 0 | c.424 others(4): Show |
p.Gly others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4484/5520 | 4240/5061 | 1414/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765698 | C | T | missense_variant | MODERATE | HG02965.hp2 | a0056 | a0056c0074 | a0056c0074t0012 | a0056c0074t0012g0344 | 1 | 378 | 0.0026 | 0 | c.421 others(4): Show |
p.Ala others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4457/5520 | 4213/5061 | 1405/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765728 | C | G | missense_variant | MODERATE | HG02965.hp2 | a0056 | a0056c0074 | a0056c0074t0012 | a0056c0074t0012g0344 | 1 | 378 | 0.0026 | 0 | c.418 others(4): Show |
p.Ala others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4427/5520 | 4183/5061 | 1395/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765748 | A | G | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(57): Show |
a0002a0012a0016others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(49): Show |
60 | 378 | 0.1587 | 0 | c.416 others(4): Show |
p.Val others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4407/5520 | 4163/5061 | 1388/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765845 | G | A | missense_variant | MODERATE | HG00738.hp1 HG00741.hp1 |
a0023 | a0023c0041 | a0023c0041t0001 | a0023c0041t0001g0110 a0023c0041t0001g0111 |
2 | 378 | 0.0053 | 0 | c.406 others(4): Show |
p.Pro others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4310/5520 | 4066/5061 | 1356/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765871 | A | G | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(65): Show |
a0002a0012a0016others(10): Show | a0002c0001a0002c0068a0002c0069others(14): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(15): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(57): Show |
68 | 378 | 0.1799 | 0 | c.404 others(4): Show |
p.Met others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4284/5520 | 4040/5061 | 1347/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765940 | G | A | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(57): Show |
a0002a0012a0016others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(49): Show |
60 | 378 | 0.1587 | 0 | c.397 others(4): Show |
p.Ser others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4215/5520 | 3971/5061 | 1324/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765941 | A | G | missense_variant | MODERATE | HG02622.hp1 HG02723.hp2 |
a0028 | a0028c0032 | a0028c0032t0001 | a0028c0032t0001g0195 a0028c0032t0001g0226 |
2 | 378 | 0.0053 | 0 | c.397 others(4): Show |
p.Ser others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4214/5520 | 3970/5061 | 1324/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765956 | T | C | missense_variant | MODERATE | 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.395 others(4): Show |
p.Thr others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4199/5520 | 3955/5061 | 1319/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765965 | A | T | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(58): Show |
a0002a0012a0016others(6): Show | a0002c0001a0002c0068a0002c0069others(10): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(11): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(50): Show |
61 | 378 | 0.1614 | 0 | c.394 others(4): Show |
p.Ser others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4190/5520 | 3946/5061 | 1316/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765968 | G | A | missense_variant | MODERATE | HG02965.hp2 | a0056 | a0056c0074 | a0056c0074t0012 | a0056c0074t0012g0344 | 1 | 378 | 0.0026 | 0 | c.394 others(4): Show |
p.Pro others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4187/5520 | 3943/5061 | 1315/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765980 | C | G | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(57): Show |
a0002a0012a0016others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(49): Show |
60 | 378 | 0.1587 | 0 | c.393 others(4): Show |
p.Glu others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4175/5520 | 3931/5061 | 1311/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765986 | A | G | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(56): Show |
a0002a0012a0016others(4): Show | a0002c0001a0002c0068a0002c0069others(8): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(9): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(48): Show |
59 | 378 | 0.1561 | 0 | c.392 others(4): Show |
p.Ser others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4169/5520 | 3925/5061 | 1309/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765994 | C | T | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(57): Show |
a0002a0012a0016others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(49): Show |
60 | 378 | 0.1587 | 0 | c.391 others(4): Show |
p.Arg others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4161/5520 | 3917/5061 | 1306/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78765997 | A | C | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(57): Show |
a0002a0012a0016others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(49): Show |
60 | 378 | 0.1587 | 0 | c.391 others(4): Show |
p.Val others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4158/5520 | 3914/5061 | 1305/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78766003 | A | G | missense_variant | MODERATE | HG03098.hp1 | a0057 | a0057c0095 | a0057c0095t0001 | a0057c0095t0001g0059 | 1 | 378 | 0.0026 | 0 | c.390 others(4): Show |
p.Met others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4152/5520 | 3908/5061 | 1303/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78766033 | A | G | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(57): Show |
a0002a0012a0016others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(49): Show |
60 | 378 | 0.1587 | 0 | c.387 others(4): Show |
p.Leu others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 4122/5520 | 3878/5061 | 1293/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78766049 | C | T | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(57): Show |
a0002a0012a0016others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(49): Show |
60 | 378 | 0.1587 | 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 |
a0002a0012a0016others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(49): Show |
60 | 378 | 0.1587 | 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 | a0056 | a0056c0074 | a0056c0074t0012 | a0056c0074t0012g0344 | 1 | 378 | 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 |
a0013a0025a0059others(1): Show | a0013c0019a0013c0093a0013c0104others(3): Show | a0013c0019t0001a0013c0093t0001a0013c0104t0001others(3): Show | a0013c0019t0001g0243 a0013c0019t0001g0277 a0013c0019t0001g0287 others(7): Show |
10 | 378 | 0.0265 | 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 | a0062 | a0062c0094 | a0062c0094t0001 | a0062c0094t0001g0296 | 1 | 378 | 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 |
a0031a0045a0060 | a0031c0036a0045c0056a0060c0078 | a0031c0036t0001a0045c0056t0003a0060c0078t0001 | a0031c0036t0001g0338 a0031c0036t0001g0339 a0045c0056t0003g0180 others(1): Show |
4 | 378 | 0.0106 | 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 | a0045 | a0045c0056 | a0045c0056t0003 | a0045c0056t0003g0180 | 1 | 378 | 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 |
a0019a0024a0043 | a0019c0025a0024c0037a0043c0118 | a0019c0025t0001a0024c0037t0001a0043c0118t0001 | a0019c0025t0001g0055 a0019c0025t0001g0056 a0019c0025t0001g0057 others(3): Show |
6 | 378 | 0.0159 | 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 |
a0019a0024a0041others(2): Show | a0019c0025a0024c0037a0041c0085others(2): Show | a0019c0025t0001a0024c0037t0001a0041c0085t0005others(2): Show | a0019c0025t0001g0055 a0019c0025t0001g0056 a0019c0025t0001g0057 others(5): Show |
8 | 378 | 0.0212 | 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 |
a0019a0024a0041others(1): Show | a0019c0025a0024c0037a0041c0085others(1): Show | a0019c0025t0001a0024c0037t0001a0041c0085t0005others(1): Show | a0019c0025t0001g0055 a0019c0025t0001g0056 a0019c0025t0001g0057 others(4): Show |
7 | 378 | 0.0185 | 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 |
a0019a0024a0041others(2): Show | a0019c0025a0024c0037a0041c0085others(2): Show | a0019c0025t0001a0024c0037t0001a0041c0085t0005others(2): Show | a0019c0025t0001g0055 a0019c0025t0001g0056 a0019c0025t0001g0057 others(5): Show |
8 | 378 | 0.0212 | 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(85): Show |
a0005a0008a0011others(23): Show | a0005c0005a0005c0047a0005c0108others(30): Show | a0005c0005t0002a0005c0005t0011a0005c0047t0002others(31): Show | a0005c0005t0002g0009 a0005c0005t0002g0012 a0005c0005t0002g0115 others(81): Show |
88 | 378 | 0.2328 | 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 |
a0009a0012a0048others(1): Show | a0009c0009a0012c0015a0048c0117others(1): Show | a0009c0009t0001a0012c0015t0001a0048c0117t0001others(1): Show | a0009c0009t0001g0020 a0009c0009t0001g0021 a0009c0009t0001g0035 others(14): Show |
19 | 378 | 0.0503 | 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 |
a0033 | a0033c0046 | a0033c0046t0001 | a0033c0046t0001g0153 a0033c0046t0001g0161 |
2 | 378 | 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 | a0054c0092t0001g0240 | 1 | 378 | 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 | a0047 | a0047c0067 | a0047c0067t0001 | a0047c0067t0001g0069 | 1 | 378 | 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 |
a0037a0042a0060 | a0037c0072a0042c0064a0060c0078 | a0037c0072t0013a0042c0064t0001a0060c0078t0001 | a0037c0072t0013g0348 a0042c0064t0001g0225 a0060c0078t0001g0337 |
3 | 378 | 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 | a0061 | a0061c0109 | a0061c0109t0002 | a0061c0109t0002g0145 | 1 | 378 | 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 |
a0061a0073 | a0061c0109a0073c0110 | a0061c0109t0002a0073c0110t0002 | a0061c0109t0002g0145 a0073c0110t0002g0144 |
2 | 378 | 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 | a0067 | a0067c0054 | a0067c0054t0001 | a0067c0054t0001g0046 | 1 | 378 | 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 | a0067 | a0067c0054 | a0067c0054t0001 | a0067c0054t0001g0046 | 1 | 378 | 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 | a0068 | a0068c0055 | a0068c0055t0001 | a0068c0055t0001g0202 | 1 | 378 | 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 | a0056 | a0056c0074 | a0056c0074t0012 | a0056c0074t0012g0344 | 1 | 378 | 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 | a0062 | a0062c0094 | a0062c0094t0001 | a0062c0094t0001g0296 | 1 | 378 | 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 |
a0050a0055 | a0050c0111a0055c0112 | a0050c0111t0001a0055c0112t0001 | a0050c0111t0001g0148 a0055c0112t0001g0147 |
2 | 378 | 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 |
a0033 | a0033c0046 | a0033c0046t0001 | a0033c0046t0001g0153 a0033c0046t0001g0161 |
2 | 378 | 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(72): Show |
a0005a0007a0011others(20): Show | a0005c0005a0005c0047a0005c0108others(30): Show | a0005c0005t0002a0005c0005t0011a0005c0047t0002others(31): Show | a0005c0005t0002g0009 a0005c0005t0002g0012 a0005c0005t0002g0115 others(69): Show |
75 | 378 | 0.1984 | 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 |
a0021 | a0021c0020 | a0021c0020t0001 | a0021c0020t0001g0025 a0021c0020t0001g0343 |
3 | 378 | 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 | a0065 | a0065c0090 | a0065c0090t0001 | a0065c0090t0001g0268 | 1 | 377 | 0.0027 | 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 | a0039 | a0039c0086 | a0039c0086t0001 | a0039c0086t0001g0036 | 1 | 378 | 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 |
a0015a0035 | a0015c0017a0015c0079a0035c0028 | a0015c0017t0001a0015c0079t0001a0035c0028t0001 | a0015c0017t0001g0199 a0015c0017t0001g0200 a0015c0017t0001g0206 others(4): Show |
7 | 378 | 0.0185 | 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 | a0040 | a0040c0121 | a0040c0121t0001 | a0040c0121t0001g0049 | 1 | 378 | 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 |