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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS2_chr5_179105853_179350461 | 179345258 | G | A | missense_variant | MODERATE | HG02886.hp2 | a0020 | a0020c0113 | a0020c0113t0029 | a0020c0113t0029g0276 | 1 | 200 | 0.0050 | 0 | c.71C others(2): Show |
p.Pro others(5): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 1/22 | 204/6783 | 71/3636 | 24/1211 | chr5 | TogoVar | |||
ADAMTS3_chr4_72275969_72574221 | 72283311 | G | A | missense_variant | MODERATE | HG02965.hp1 HG02976.hp2 |
a0007a0008 | a0007c0016a0008c0014 | a0007c0016t0007a0008c0014t0007 | a0007c0016t0007g0134 a0008c0014t0007g0012 |
2 | 180 | 0.0111 | 0 | c.344 others(4): Show |
p.Pro others(7): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 22/22 | 3902/6244 | 3443/3618 | 1148/1205 | chr4 | TogoVar | |||
ADAMTS3_chr4_72275969_72574221 | 72283534 | A | G | missense_variant | MODERATE | HG01243.hp2 HG01884.hp1 HG02486.hp2 others(4): Show |
a0003 | a0003c0005a0003c0007a0003c0008 | a0003c0005t0003a0003c0005t0023a0003c0007t0003others(2): Show | a0003c0005t0003g0014 a0003c0005t0003g0099 a0003c0005t0023g0035 others(4): Show |
7 | 180 | 0.0389 | 0 | c.322 others(4): Show |
p.Ser others(7): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 22/22 | 3679/6244 | 3220/3618 | 1074/1205 | chr4 | TogoVar | |||
ADAMTS3_chr4_72275969_72574221 | 72304051 | T | C | missense_variant | MODERATE | HG01109.hp2 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0026 | 1 | 180 | 0.0056 | 0 | c.229 others(4): Show |
p.Ile others(6): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 17/22 | 2749/6244 | 2290/3618 | 764/1205 | chr4 | TogoVar | |||
ADAMTS3_chr4_72275969_72574221 | 72312448 | C | A | missense_variant | MODERATE | HG03453.hp1 | a0009 | a0009c0018 | a0009c0018t0006 | a0009c0018t0006g0137 | 1 | 180 | 0.0056 | 0 | c.176 others(4): Show |
p.Gln others(6): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 13/22 | 2223/6244 | 1764/3618 | 588/1205 | chr4 | TogoVar | |||
ADAMTS3_chr4_72275969_72574221 | 72312458 | T | C | missense_variant | MODERATE | HG01071.hp1 | a0004 | a0004c0019 | a0004c0019t0001 | a0004c0019t0001g0061 | 1 | 180 | 0.0056 | 0 | c.175 others(4): Show |
p.Asn others(6): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 13/22 | 2213/6244 | 1754/3618 | 585/1205 | chr4 | TogoVar | |||
ADAMTS3_chr4_72275969_72574221 | 72323067 | C | T | missense_variant | MODERATE | HG02976.hp2 | a0008 | a0008c0014 | a0008c0014t0007 | a0008c0014t0007g0012 | 1 | 180 | 0.0056 | 0 | c.892 others(3): Show |
p.Gly others(6): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 6/22 | 1351/6244 | 892/3618 | 298/1205 | chr4 | TogoVar | |||
ADAMTS3_chr4_72275969_72574221 | 72414821 | A | G | missense_variant | MODERATE | HG02071.hp2 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0157 | 1 | 180 | 0.0056 | 0 | c.655 others(3): Show |
p.Tyr others(6): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/22 | 1114/6244 | 655/3618 | 219/1205 | chr4 | TogoVar | |||
ADAMTS3_chr4_72275969_72574221 | 72548569 | C | T | missense_variant | MODERATE | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(133): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 others(133): Show |
136 | 180 | 0.7556 | 0 | c.413 others(3): Show |
p.Arg others(6): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/22 | 872/6244 | 413/3618 | 138/1205 | chr4 | TogoVar | |||
ADAMTS4_chr1_161179302_161204054 | 161191307 | G | T | missense_variant | MODERATE | NA19007.hp1 | a0012 | a0012c0014 | a0012c0014t0015 | a0012c0014t0015g0069 | 1 | 372 | 0.0027 | 0 | c.234 others(4): Show |
p.Thr others(6): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2772/9777 | 2345/2514 | 782/837 | chr1 | TogoVar | |||
ADAMTS4_chr1_161179302_161204054 | 161191383 | C | G | missense_variant | MODERATE | NA18963.hp1 | a0010 | a0010c0018 | a0010c0018t0206 | a0010c0018t0206g0222 | 1 | 372 | 0.0027 | 0 | c.226 others(4): Show |
p.Val others(6): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2696/9777 | 2269/2514 | 757/837 | chr1 | TogoVar | |||
ADAMTS4_chr1_161179302_161204054 | 161191484 | C | T | missense_variant | MODERATE | NA18993.hp1 | a0011 | a0011c0013 | a0011c0013t0142 | a0011c0013t0142g0068 | 1 | 372 | 0.0027 | 0 | c.216 others(4): Show |
p.Arg others(6): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2595/9777 | 2168/2514 | 723/837 | chr1 | TogoVar | |||
ADAMTS4_chr1_161179302_161204054 | 161191494 | G | C | missense_variant | MODERATE | HG01106.hp1 HG01109.hp1 HG01243.hp1 others(39): Show |
a0003a0008 | a0003c0004a0003c0007a0003c0015others(2): Show | a0003c0004t0012a0003c0004t0013a0003c0004t0014others(27): Show | a0003c0004t0012g0009 a0003c0004t0013g0010 a0003c0004t0014g0240 others(27): Show |
42 | 372 | 0.1129 | 0 | c.215 others(4): Show |
p.Pro others(6): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2585/9777 | 2158/2514 | 720/837 | chr1 | TogoVar | |||
ADAMTS4_chr1_161179302_161204054 | 161193247 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(293): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(204): Show | a0001c0001t0005g0067 a0001c0001t0006g0006 a0001c0001t0006g0141 others(220): Show |
296 | 372 | 0.7957 | 0 | c.187 others(4): Show |
p.Gln others(6): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 7/9 | 2304/9777 | 1877/2514 | 626/837 | chr1 | TogoVar | |||
ADAMTS4_chr1_161179302_161204054 | 161193676 | G | A | missense_variant | MODERATE | HG01884.hp1 HG02717.hp2 HG03453.hp1 |
a0006 | a0006c0008 | a0006c0008t0006a0006c0008t0007a0006c0008t0048 | a0006c0008t0006g0134 a0006c0008t0007g0135 a0006c0008t0048g0136 |
3 | 372 | 0.0081 | 0 | c.169 others(4): Show |
p.Arg others(6): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 6/9 | 2126/9777 | 1699/2514 | 567/837 | chr1 | TogoVar | |||
ADAMTS4_chr1_161179302_161204054 | 161194195 | C | T | missense_variant | MODERATE | HG03927.hp2 | a0009 | a0009c0017 | a0009c0017t0001 | a0009c0017t0001g0149 | 1 | 372 | 0.0027 | 0 | c.128 others(4): Show |
p.Ala others(6): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 5/9 | 1715/9777 | 1288/2514 | 430/837 | chr1 | TogoVar | |||
ADAMTS4_chr1_161179302_161204054 | 161198161 | C | T | missense_variant | MODERATE | NA19091.hp2 | a0014 | a0014c0012 | a0014c0012t0007 | a0014c0012t0007g0062 | 1 | 372 | 0.0027 | 0 | c.467 others(3): Show |
p.Arg others(6): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 1/9 | 894/9777 | 467/2514 | 156/837 | chr1 | TogoVar | |||
ADAMTS4_chr1_161179302_161204054 | 161198191 | C | T | missense_variant | MODERATE | HG01106.hp2 | a0007 | a0007c0016 | a0007c0016t0002 | a0007c0016t0002g0148 | 1 | 372 | 0.0027 | 0 | c.437 others(3): Show |
p.Gly others(6): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 1/9 | 864/9777 | 437/2514 | 146/837 | chr1 | TogoVar | |||
ADAMTS4_chr1_161179302_161204054 | 161198357 | T | C | missense_variant | MODERATE | HG01074.hp1 HG01515.hp2 HG01517.hp2 |
a0005 | a0005c0009 | a0005c0009t0051a0005c0009t0181 | a0005c0009t0051g0051 a0005c0009t0181g0249 |
3 | 372 | 0.0081 | 0 | c.271 others(3): Show |
p.Thr others(5): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 1/9 | 698/9777 | 271/2514 | 91/837 | chr1 | TogoVar | |||
ADAMTS4_chr1_161179302_161204054 | 161198399 | C | T | missense_variant | MODERATE | HG00280.hp2 HG00735.hp1 HG00735.hp2 others(14): Show |
a0004a0008 | a0004c0005a0008c0011 | a0004c0005t0019a0004c0005t0037a0004c0005t0038others(10): Show | a0004c0005t0019g0011 a0004c0005t0037g0024 a0004c0005t0038g0023 others(10): Show |
17 | 372 | 0.0457 | 0 | c.229 others(3): Show |
p.Ala others(5): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 1/9 | 656/9777 | 229/2514 | 77/837 | chr1 | TogoVar | |||
ADAMTS4_chr1_161179302_161204054 | 161198480 | G | A | missense_variant | MODERATE | NA19065.hp2 | a0013 | a0013c0021 | a0013c0021t0004 | a0013c0021t0004g0250 | 1 | 372 | 0.0027 | 0 | c.148 others(3): Show |
p.Arg others(5): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 1/9 | 575/9777 | 148/2514 | 50/837 | chr1 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26930036 | A | G | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(286): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0005a0001c0006others(33): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(111): Show | a0001c0001t0003g0013 a0001c0001t0003g0031 a0001c0001t0003g0032 others(254): Show |
289 | 396 | 0.7298 | 0 | c.207 others(4): Show |
p.Leu others(6): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 7/8 | 2772/9621 | 2075/2793 | 692/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26932893 | C | T | missense_variant | MODERATE | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
a0003a0011a0012 | a0003c0003a0003c0031a0003c0041others(2): Show | a0003c0003t0002a0003c0003t0016a0003c0003t0020others(9): Show | a0003c0003t0002g0011 a0003c0003t0002g0022 a0003c0003t0002g0023 others(34): Show |
45 | 396 | 0.1136 | 0 | c.184 others(4): Show |
p.Arg others(6): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 5/8 | 2538/9621 | 1841/2793 | 614/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26933005 | C | T | missense_variant | MODERATE | HG00639.hp1 HG01496.hp2 HG01934.hp1 others(2): Show |
a0009 | a0009c0011 | a0009c0011t0010 | a0009c0011t0010g0129 a0009c0011t0010g0130 a0009c0011t0010g0132 others(2): Show |
5 | 396 | 0.0126 | 0 | c.172 others(4): Show |
p.Gly others(6): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 5/8 | 2426/9621 | 1729/2793 | 577/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26943442 | G | A | missense_variant | MODERATE | HG00741.hp1 HG01884.hp2 HG02145.hp2 others(5): Show |
a0007a0016 | a0007c0009a0016c0038 | a0007c0009t0017a0007c0009t0081a0007c0009t0106others(1): Show | a0007c0009t0017g0126 a0007c0009t0017g0169 a0007c0009t0017g0170 others(5): Show |
8 | 396 | 0.0202 | 0 | c.134 others(4): Show |
p.Ala others(6): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 3/8 | 2040/9621 | 1343/2793 | 448/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26954802 | G | A | missense_variant | MODERATE | HG01256.hp2 | a0014 | a0014c0036 | a0014c0036t0001 | a0014c0036t0001g0245 | 1 | 396 | 0.0025 | 0 | c.117 others(4): Show |
p.Arg others(6): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 2/8 | 1871/9621 | 1174/2793 | 392/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26954826 | C | T | missense_variant | MODERATE | NA21309.hp1 | a0020 | a0020c0030 | a0020c0030t0007 | a0020c0030t0007g0195 | 1 | 396 | 0.0025 | 0 | c.115 others(4): Show |
p.Val others(6): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 2/8 | 1847/9621 | 1150/2793 | 384/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26965464 | G | A | missense_variant | MODERATE | HG01175.hp1 HG01891.hp1 HG02109.hp2 others(7): Show |
a0006 | a0006c0012a0006c0015a0006c0039 | a0006c0012t0013a0006c0012t0042a0006c0012t0085others(2): Show | a0006c0012t0013g0279 a0006c0012t0013g0280 a0006c0012t0013g0282 others(6): Show |
10 | 396 | 0.0253 | 0 | c.928 others(3): Show |
p.His others(6): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/8 | 1625/9621 | 928/2793 | 310/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26965509 | C | T | missense_variant | MODERATE | HG02027.hp1 | a0015 | a0015c0029 | a0015c0029t0072 | a0015c0029t0072g0117 | 1 | 396 | 0.0025 | 0 | c.883 others(3): Show |
p.Ala others(6): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/8 | 1580/9621 | 883/2793 | 295/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26965541 | C | A | missense_variant | MODERATE | NA19060.hp1 | a0019 | a0019c0037 | a0019c0037t0003 | a0019c0037t0003g0344 | 1 | 396 | 0.0025 | 0 | c.851 others(3): Show |
p.Gly others(6): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/8 | 1548/9621 | 851/2793 | 284/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26965662 | G | A | missense_variant | MODERATE | HG02109.hp1 HG02145.hp1 HG02723.hp1 others(3): Show |
a0010a0016 | a0010c0013a0016c0038 | a0010c0013t0019a0010c0013t0050a0016c0038t0049 | a0010c0013t0019g0035 a0010c0013t0019g0036 a0010c0013t0019g0037 others(3): Show |
6 | 396 | 0.0152 | 0 | c.730 others(3): Show |
p.Leu others(6): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/8 | 1427/9621 | 730/2793 | 244/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26965847 | T | C | missense_variant | MODERATE | NA18965.hp1 | a0017 | a0017c0040 | a0017c0040t0003 | a0017c0040t0003g0345 | 1 | 396 | 0.0025 | 0 | c.545 others(3): Show |
p.Tyr others(6): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/8 | 1242/9621 | 545/2793 | 182/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26965979 | C | G | missense_variant | MODERATE | HG00140.hp2 HG00280.hp1 HG01069.hp1 others(32): Show |
a0004a0013 | a0004c0004a0004c0008a0004c0025others(3): Show | a0004c0004t0005a0004c0004t0027a0004c0004t0040others(14): Show | a0004c0004t0005g0089 a0004c0004t0005g0092 a0004c0004t0005g0095 others(31): Show |
35 | 396 | 0.0884 | 0 | c.413 others(3): Show |
p.Gly others(6): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/8 | 1110/9621 | 413/2793 | 138/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26966106 | G | A | missense_variant | MODERATE | HG00323.hp1 HG01496.hp1 |
a0012 | a0012c0021 | a0012c0021t0002 | a0012c0021t0002g0288 a0012c0021t0002g0289 |
2 | 396 | 0.0051 | 0 | c.286 others(3): Show |
p.Arg others(5): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/8 | 983/9621 | 286/2793 | 96/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26966262 | G | T | missense_variant | MODERATE | HG01255.hp2 HG01261.hp2 HG03710.hp2 others(17): Show |
a0005a0008a0011 | a0005c0007a0008c0010a0011c0016 | a0005c0007t0012a0005c0007t0021a0005c0007t0058others(7): Show | a0005c0007t0012g0003 a0005c0007t0012g0042 a0005c0007t0012g0043 others(15): Show |
20 | 396 | 0.0505 | 0 | c.130 others(3): Show |
p.Arg others(5): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/8 | 827/9621 | 130/2793 | 44/930 | chr21 | TogoVar | |||
ADAMTS5_chr21_26912922_26972088 | 26966330 | C | T | missense_variant | MODERATE | NA18966.hp2 | a0018 | a0018c0022 | a0018c0022t0003 | a0018c0022t0003g0292 | 1 | 396 | 0.0025 | 0 | c.62G others(2): Show |
p.Gly others(5): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/8 | 759/9621 | 62/2793 | 21/930 | chr21 | TogoVar | |||
ADAMTS6_chr5_65143738_65486920 | 65172857 | C | T | missense_variant | MODERATE | NA19057.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0049 | 1 | 202 | 0.0050 | 0 | c.306 others(4): Show |
p.Arg others(7): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 23/25 | 3919/7309 | 3062/3354 | 1021/1117 | chr5 | TogoVar | |||
ADAMTS6_chr5_65143738_65486920 | 65224338 | T | C | missense_variant | MODERATE | HG02615.hp2 HG03579.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0159 a0002c0004t0002g0161 |
2 | 202 | 0.0099 | 0 | c.225 others(4): Show |
p.Met others(6): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 18/25 | 3111/7309 | 2254/3354 | 752/1117 | chr5 | TogoVar | |||
ADAMTS6_chr5_65143738_65486920 | 65226150 | G | T | missense_variant | MODERATE | HG03195.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0111 | 1 | 202 | 0.0050 | 0 | c.200 others(4): Show |
p.Ala others(6): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 16/25 | 2860/7309 | 2003/3354 | 668/1117 | chr5 | TogoVar | |||
ADAMTS6_chr5_65143738_65486920 | 65262896 | G | A | missense_variant | MODERATE | NA21309.hp2 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0106 | 1 | 202 | 0.0050 | 0 | c.168 others(4): Show |
p.Pro others(6): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 13/25 | 2544/7309 | 1687/3354 | 563/1117 | chr5 | TogoVar | |||
ADAMTS6_chr5_65143738_65486920 | 65451620 | G | C | missense_variant others(1): Show |
MODERATE | HG02083.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0012 | 1 | 202 | 0.0050 | 0 | c.928 others(3): Show |
p.Pro others(6): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/25 | 1785/7309 | 928/3354 | 310/1117 | chr5 | TogoVar | |||
ADAMTS6_chr5_65143738_65486920 | 65460194 | C | A | missense_variant | MODERATE | HG03710.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0015 | 1 | 202 | 0.0050 | 0 | c.607 others(3): Show |
p.Asp others(6): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 4/25 | 1464/7309 | 607/3354 | 203/1117 | chr5 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78759449 | C | T | missense_variant | MODERATE | HG00408.hp1 | a0037 | a0037c0072 | a0037c0072t0013 | a0037c0072t0013g0348 | 1 | 378 | 0.0026 | 0 | c.503 others(4): Show |
p.Arg others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 24/24 | 5277/5520 | 5033/5061 | 1678/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78759452 | G | T | missense_variant | MODERATE | HG02071.hp2 HG02165.hp2 |
a0026 | a0026c0077a0026c0097 | a0026c0077t0006a0026c0097t0001 | a0026c0077t0006g0029 a0026c0097t0001g0264 |
2 | 378 | 0.0053 | 0 | c.503 others(4): Show |
p.Ser others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 24/24 | 5274/5520 | 5030/5061 | 1677/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78762547 | C | T | missense_variant | MODERATE | NA18943.hp2 NA18953.hp2 NA19056.hp2 |
a0034a0066 | a0034c0033a0066c0070 | a0034c0033t0001a0066c0070t0009 | a0034c0033t0001g0078 a0034c0033t0001g0102 a0066c0070t0009g0026 |
3 | 378 | 0.0079 | 0 | c.475 others(4): Show |
p.Gly others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 23/24 | 5003/5520 | 4759/5061 | 1587/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78762558 | C | G | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(239): Show |
a0002a0003a0004others(43): Show | a0002c0001a0002c0068a0002c0069others(66): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(73): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(219): Show |
242 | 378 | 0.6402 | 0 | c.474 others(4): Show |
p.Gly others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 23/24 | 4992/5520 | 4748/5061 | 1583/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78763787 | C | T | missense_variant | MODERATE | HG01515.hp1 | a0044 | a0044c0107 | a0044c0107t0002 | a0044c0107t0002g0123 | 1 | 378 | 0.0026 | 0 | c.465 others(4): Show |
p.Gly others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 22/24 | 4896/5520 | 4652/5061 | 1551/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78763984 | G | A | missense_variant | MODERATE | HG02965.hp2 HG03098.hp2 |
a0056a0058 | a0056c0074a0058c0048 | a0056c0074t0012a0058c0048t0004 | a0056c0074t0012g0344 a0058c0048t0004g0247 |
2 | 378 | 0.0053 | 0 | c.453 others(4): Show |
p.Ala others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 21/24 | 4779/5520 | 4535/5061 | 1512/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78764024 | G | A | missense_variant | MODERATE | HG02083.hp2 | a0049 | a0049c0088 | a0049c0088t0001 | a0049c0088t0001g0278 | 1 | 378 | 0.0026 | 0 | c.449 others(4): Show |
p.Arg others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 21/24 | 4739/5520 | 4495/5061 | 1499/1686 | chr15 | TogoVar | |||
ADAMTS7_chr15_78754206_78816464 | 78764626 | C | T | missense_variant | MODERATE | HG02886.hp2 HG02965.hp1 HG03139.hp2 |
a0022 | a0022c0023 | a0022c0023t0001 | a0022c0023t0001g0007 a0022c0023t0001g0048 |
3 | 378 | 0.0079 | 0 | c.434 others(4): Show |
p.Gly others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 20/24 | 4592/5520 | 4348/5061 | 1450/1686 | chr15 | TogoVar |