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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS12_chr5_33518535_33896990 | 33881280 | G | C | missense_variant | MODERATE | HG01884.hp2 HG02258.hp1 HG02258.hp2 others(4): Show |
a0010a0014a0021others(3): Show | a0010c0052a0010c0055a0014c0053others(4): Show | a0010c0052t0027a0010c0055t0001a0014c0053t0017others(4): Show | a0010c0052t0027g0224 a0010c0055t0001g0176 a0014c0053t0017g0001 others(4): Show |
7 | 222 | 0.0315 | 0 | c.328 others(3): Show |
p.Gln others(6): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/24 | 462/8572 | 328/4785 | 110/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33881288 | G | A | missense_variant | MODERATE | HG02071.hp1 | a0013 | a0013c0058 | a0013c0058t0001 | a0013c0058t0001g0083 | 1 | 222 | 0.0045 | 0 | c.320 others(3): Show |
p.Thr others(6): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/24 | 454/8572 | 320/4785 | 107/1594 | chr5 | TogoVar | |||
ADAMTS12_chr5_33518535_33896990 | 33891832 | G | A | missense_variant | MODERATE | HG02818.hp1 HG03486.hp2 HG03704.hp1 others(1): Show |
a0022a0027a0029others(1): Show | a0022c0062a0027c0061a0029c0059others(1): Show | a0022c0062t0009a0027c0061t0013a0029c0059t0003others(1): Show | a0022c0062t0009g0221 a0027c0061t0013g0223 a0029c0059t0003g0222 others(1): Show |
4 | 222 | 0.0180 | 0 | c.25C others(2): Show |
p.Leu others(4): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 1/24 | 159/8572 | 25/4785 | 9/1594 | chr5 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133422462 | C | T | missense_variant | MODERATE | HG00280.hp2 HG00733.hp2 HG01069.hp2 others(11): Show |
a0008a0010a0015others(2): Show | a0008c0013a0010c0018a0010c0060others(3): Show | a0008c0013t0001a0010c0018t0001a0010c0060t0001others(3): Show | a0008c0013t0001g0012 a0008c0013t0001g0072 a0008c0013t0001g0074 others(9): Show |
14 | 362 | 0.0387 | 0 | c.19C others(2): Show |
p.Arg others(4): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 1/29 | 96/4399 | 19/4116 | 7/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133426023 | C | T | missense_variant | MODERATE | HG02630.hp2 NA19030.hp1 |
a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0232 a0017c0020t0001g0233 |
2 | 362 | 0.0055 | 0 | c.500 others(3): Show |
p.Thr others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 5/29 | 577/4399 | 500/4116 | 167/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133426053 | A | G | missense_variant | MODERATE | NA18612.hp1 | a0027 | a0027c0058 | a0027c0058t0001 | a0027c0058t0001g0165 | 1 | 362 | 0.0028 | 0 | c.530 others(3): Show |
p.Tyr others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 5/29 | 607/4399 | 530/4116 | 177/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133432616 | C | G | missense_variant | MODERATE | HG00423.hp2 NA18969.hp1 NA18983.hp1 others(2): Show |
a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0033 a0009c0012t0001g0034 a0009c0012t0001g0065 others(2): Show |
5 | 362 | 0.0138 | 0 | c.101 others(4): Show |
p.Thr others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 9/29 | 1093/4399 | 1016/4116 | 339/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133432622 | C | T | missense_variant | MODERATE | NA19043.hp2 | a0029 | a0029c0054 | a0029c0054t0001 | a0029c0054t0001g0140 | 1 | 362 | 0.0028 | 0 | c.102 others(4): Show |
p.Pro others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 9/29 | 1099/4399 | 1022/4116 | 341/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133433441 | C | T | missense_variant | MODERATE | HG02451.hp1 | a0022 | a0022c0041 | a0022c0041t0003 | a0022c0041t0003g0031 | 1 | 362 | 0.0028 | 0 | c.115 others(4): Show |
p.Arg others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 10/29 | 1233/4399 | 1156/4116 | 386/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133436862 | C | G | missense_variant | MODERATE | HG00423.hp2 HG00609.hp1 HG00639.hp2 others(85): Show |
a0002a0009a0013others(3): Show | a0002c0002a0002c0006a0002c0037others(10): Show | a0002c0002t0001a0002c0006t0001a0002c0037t0001others(10): Show | a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 others(74): Show |
88 | 362 | 0.2431 | 0 | c.134 others(4): Show |
p.Gln others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 12/29 | 1419/4399 | 1342/4116 | 448/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133436888 | G | T | missense_variant | MODERATE | HG02145.hp2 HG02257.hp1 HG02647.hp2 others(5): Show |
a0011a0014a0024 | a0011c0015a0014c0023a0014c0056others(1): Show | a0011c0015t0001a0014c0023t0001a0014c0056t0001others(1): Show | a0011c0015t0001g0023 a0011c0015t0001g0068 a0011c0015t0001g0262 others(4): Show |
8 | 362 | 0.0221 | 0 | c.136 others(4): Show |
p.Gln others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 12/29 | 1445/4399 | 1368/4116 | 456/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133436943 | C | T | missense_variant | MODERATE | NA18942.hp1 NA18951.hp1 NA18964.hp2 others(4): Show |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0032 a0006c0008t0001g0044 a0006c0008t0001g0132 others(4): Show |
7 | 362 | 0.0193 | 0 | c.142 others(4): Show |
p.Pro others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 12/29 | 1500/4399 | 1423/4116 | 475/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133437812 | A | C | missense_variant | MODERATE | HG02717.hp2 | a0023 | a0023c0036 | a0023c0036t0001 | a0023c0036t0001g0259 | 1 | 362 | 0.0028 | 0 | c.149 others(4): Show |
p.Asp others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 13/29 | 1576/4399 | 1499/4116 | 500/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133440409 | C | G | missense_variant | MODERATE | HG00423.hp2 HG01069.hp2 HG01071.hp1 others(6): Show |
a0009a0015a0019 | a0009c0012a0015c0024a0019c0025 | a0009c0012t0001a0015c0024t0001a0019c0025t0001 | a0009c0012t0001g0033 a0009c0012t0001g0034 a0009c0012t0001g0065 others(5): Show |
9 | 362 | 0.0249 | 0 | c.185 others(4): Show |
p.Pro others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 16/29 | 1929/4399 | 1852/4116 | 618/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133440431 | G | A | missense_variant | MODERATE | HG02258.hp2 HG02280.hp2 HG02615.hp1 others(7): Show |
a0004 | a0004c0004a0004c0026 | a0004c0004t0001a0004c0026t0001 | a0004c0004t0001g0011 a0004c0004t0001g0026 a0004c0004t0001g0227 others(4): Show |
10 | 362 | 0.0276 | 0 | c.187 others(4): Show |
p.Arg others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 16/29 | 1951/4399 | 1874/4116 | 625/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133442676 | C | A | missense_variant | MODERATE | NA18992.hp2 NA19066.hp2 NA19068.hp2 others(1): Show |
a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0003 a0012c0014t0001g0175 |
4 | 362 | 0.0110 | 0 | c.216 others(4): Show |
p.Gln others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 18/29 | 2244/4399 | 2167/4116 | 723/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133442727 | G | A | missense_variant | MODERATE | HG02647.hp2 HG02818.hp1 HG03486.hp2 others(1): Show |
a0014a0024 | a0014c0023a0014c0056a0024c0055 | a0014c0023t0001a0014c0056t0001a0024c0055t0001 | a0014c0023t0001g0303 a0014c0023t0001g0309 a0014c0056t0001g0304 others(1): Show |
4 | 362 | 0.0110 | 0 | c.221 others(4): Show |
p.Glu others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 18/29 | 2295/4399 | 2218/4116 | 740/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133444987 | G | A | missense_variant | MODERATE | NA21309.hp1 | a0030 | a0030c0045 | a0030c0045t0001 | a0030c0045t0001g0187 | 1 | 362 | 0.0028 | 0 | c.254 others(4): Show |
p.Val others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 20/29 | 2622/4399 | 2545/4116 | 849/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133445787 | C | T | missense_variant | MODERATE | HG00280.hp1 HG00323.hp1 HG00735.hp1 others(19): Show |
a0003a0019a0022others(1): Show | a0003c0003a0003c0019a0003c0030others(7): Show | a0003c0003t0001a0003c0019t0001a0003c0030t0004others(7): Show | a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0235 others(19): Show |
22 | 362 | 0.0608 | 0 | c.269 others(4): Show |
p.Ala others(6): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 21/29 | 2776/4399 | 2699/4116 | 900/1371 | chr9 | TogoVar | |||
ADAMTS13_chr9_133417367_133464386 | 133445796 | C | T | missense_variant | MODERATE | HG00558.hp2 HG02129.hp2 NA18747.hp2 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0001 a0005c0007t0001g0019 a0005c0007t0001g0056 others(1): Show |
8 | 362 | 0.0221 | 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 | a0028 | a0028c0043 | a0028c0043t0001 | a0028c0043t0001g0069 | 1 | 362 | 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 |
a0008a0016 | a0008c0013a0016c0022 | a0008c0013t0001a0016c0022t0001 | a0008c0013t0001g0012 a0008c0013t0001g0072 a0008c0013t0001g0074 others(3): Show |
7 | 362 | 0.0193 | 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 | a0028 | a0028c0043 | a0028c0043t0001 | a0028c0043t0001g0069 | 1 | 362 | 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 | a0007c0009t0001g0208 a0007c0009t0001g0244 a0007c0009t0001g0245 others(6): Show |
9 | 362 | 0.0249 | 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 | a0021 | a0021c0049 | a0021c0049t0001 | a0021c0049t0001g0157 | 1 | 362 | 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 |
a0018a0024a0025 | a0018c0021a0024c0055a0025c0053 | a0018c0021t0001a0024c0055t0001a0025c0053t0001 | a0018c0021t0001g0190 a0018c0021t0001g0197 a0024c0055t0001g0305 others(1): Show |
4 | 362 | 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 | a0020 | a0020c0048 | a0020c0048t0001 | a0020c0048t0001g0292 | 1 | 362 | 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 | a0011c0022t0005g0049 a0011c0022t0005g0057 a0011c0022t0005g0058 others(1): Show |
4 | 352 | 0.0114 | 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 |
a0010a0016a0023others(1): Show | a0010c0043a0010c0093a0010c0094others(4): Show | a0010c0043t0031a0010c0093t0049a0010c0094t0050others(4): Show | a0010c0043t0031g0013 a0010c0043t0031g0014 a0010c0093t0049g0011 others(6): Show |
9 | 352 | 0.0256 | 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 | a0021 | a0021c0045 | a0021c0045t0001 | a0021c0045t0001g0167 | 1 | 352 | 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 | a0018c0091t0002g0318 a0018c0092t0004g0332 |
2 | 352 | 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 | a0025 | a0025c0095 | a0025c0095t0020 | a0025c0095t0020g0010 | 1 | 352 | 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 |
a0009a0012a0024others(1): Show | a0009c0023a0009c0050a0009c0051others(5): Show | a0009c0023t0003a0009c0050t0015a0009c0051t0002others(5): Show | a0009c0023t0003g0254 a0009c0023t0003g0257 a0009c0023t0003g0260 others(8): Show |
11 | 352 | 0.0313 | 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 |
a0028a0031 | a0028c0085a0031c0086 | a0028c0085t0002a0031c0086t0006 | a0028c0085t0002g0129 a0031c0086t0006g0128 |
2 | 352 | 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 | a0033 | a0033c0053 | a0033c0053t0024 | a0033c0053t0024g0194 | 1 | 352 | 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 |
a0008a0014a0015 | a0008c0011a0014c0029a0014c0082others(2): Show | a0008c0011t0005a0014c0029t0008a0014c0029t0038others(3): Show | a0008c0011t0005g0081 a0008c0011t0005g0082 a0008c0011t0005g0083 others(9): Show |
12 | 352 | 0.0341 | 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 |
a0016 | a0016c0044 | a0016c0044t0003 | a0016c0044t0003g0300 a0016c0044t0003g0301 |
2 | 352 | 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 | a0022 | a0022c0054 | a0022c0054t0023 | a0022c0054t0023g0317 | 1 | 352 | 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 | a0024 | a0024c0046 | a0024c0046t0003 | a0024c0046t0003g0252 | 1 | 352 | 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(284): Show |
a0001a0002a0004others(20): Show | a0001c0002a0001c0004a0001c0005others(68): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0013others(118): Show | a0001c0002t0002g0111 a0001c0002t0002g0115 a0001c0002t0002g0118 others(279): Show |
287 | 352 | 0.8153 | 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 | a0020 | a0020c0056 | a0020c0056t0039 | a0020c0056t0039g0031 | 1 | 352 | 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 | a0017c0036t0008g0072 a0017c0036t0009g0035 |
2 | 352 | 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 | a0004c0006t0004g0117 a0004c0006t0004g0161 a0004c0006t0004g0164 others(46): Show |
50 | 352 | 0.1420 | 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 | a0032 | a0032c0062 | a0032c0062t0001 | a0032c0062t0001g0284 | 1 | 352 | 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 | a0002c0001t0001g0004 a0002c0001t0001g0006 a0002c0001t0001g0104 others(86): Show |
92 | 352 | 0.2614 | 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 | a0002c0001t0001g0004 a0002c0001t0001g0006 a0002c0001t0001g0104 others(88): Show |
94 | 352 | 0.2670 | 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 | a0013c0020t0002g0125 a0013c0020t0002g0195 a0013c0020t0002g0215 others(1): Show |
4 | 352 | 0.0114 | 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 |
a0005a0030 | a0005c0008a0005c0009a0030c0065 | a0005c0008t0003a0005c0008t0056a0005c0009t0008others(3): Show | a0005c0008t0003g0276 a0005c0008t0003g0310 a0005c0008t0003g0312 others(11): Show |
14 | 352 | 0.0398 | 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 | a0029 | a0029c0066 | a0029c0066t0002 | a0029c0066t0002g0170 | 1 | 352 | 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 | a0013 | a0013c0020 | a0013c0020t0012 | a0013c0020t0012g0297 | 1 | 396 | 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 |