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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS4_chr1_161179302_161204054 | 161198357 | T | C | missense_variant | MODERATE | HG01074.hp1 HG01515.hp2 HG01517.hp2 |
a0005 | a0005c0009 | a0005c0009t0051a0005c0009t0183 | a0005c0009t0051g0051a0005c0009t0183g0250 | 3 | 374 | 0.0080 | 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 |
a0004a0013 | a0004c0005a0013c0011 | a0004c0005t0019a0004c0005t0037a0004c0005t0038others(10): Show | a0004c0005t0019g0010a0004c0005t0037g0024a0004c0005t0038g0023others(10): Show | 17 | 374 | 0.0455 | 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 | a0014 | a0014c0021 | a0014c0021t0004 | a0014c0021t0004g0251 | 1 | 374 | 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(287): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0005a0001c0006others(33): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0016others(134): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0027others(264): Show | 290 | 398 | 0.7286 | 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 |
a0003a0011a0013 | a0003c0003a0003c0031a0003c0041others(2): Show | a0003c0003t0002a0003c0003t0007a0003c0003t0023others(13): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180others(39): Show | 45 | 398 | 0.1131 | 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 |
a0010 | a0010c0011 | a0010c0011t0017 | a0010c0011t0017g0107a0010c0011t0017g0108a0010c0011t0017g0109others(2): Show | 5 | 398 | 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 | a0007c0009t0035a0007c0009t0114a0007c0009t0125others(3): Show | a0007c0009t0035g0174a0007c0009t0035g0175a0007c0009t0035g0176others(5): Show | 8 | 398 | 0.0201 | 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 | a0018 | a0018c0036 | a0018c0036t0003 | a0018c0036t0003g0208 | 1 | 398 | 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 | a0017 | a0017c0030 | a0017c0030t0036 | a0017c0030t0036g0188 | 1 | 398 | 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 | a0006c0012t0026a0006c0012t0117a0006c0012t0131others(4): Show | a0006c0012t0026g0298a0006c0012t0026g0299a0006c0012t0117g0229others(6): Show | 10 | 398 | 0.0251 | 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 | a0019 | a0019c0029 | a0019c0029t0111 | a0019c0029t0111g0164 | 1 | 398 | 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 | a0020 | a0020c0037 | a0020c0037t0001 | a0020c0037t0001g0357 | 1 | 398 | 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 |
a0009a0016 | a0009c0013a0016c0038 | a0009c0013t0019a0009c0013t0067a0016c0038t0066 | a0009c0013t0019g0030a0009c0013t0019g0031a0009c0013t0019g0032others(3): Show | 6 | 398 | 0.0151 | 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 | a0015 | a0015c0040 | a0015c0040t0001 | a0015c0040t0001g0358 | 1 | 398 | 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 |
a0004a0012 | a0004c0004a0004c0008a0004c0025others(3): Show | a0004c0004t0005a0004c0004t0033a0004c0004t0055others(17): Show | a0004c0004t0005g0083a0004c0004t0005g0085a0004c0004t0005g0088others(31): Show | 35 | 398 | 0.0879 | 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 |
a0013 | a0013c0021 | a0013c0021t0002a0013c0021t0007 | a0013c0021t0002g0231a0013c0021t0007g0281 | 2 | 398 | 0.0050 | 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(18): Show |
a0005a0008a0011 | a0005c0007a0008c0010a0011c0016 | a0005c0007t0020a0005c0007t0021a0005c0007t0049others(9): Show | a0005c0007t0020g0059a0005c0007t0020g0060a0005c0007t0020g0062others(17): Show | 21 | 398 | 0.0528 | 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 | a0014 | a0014c0022 | a0014c0022t0001 | a0014c0022t0001g0305 | 1 | 398 | 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 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0050 | 1 | 204 | 0.0049 | 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 | a0002c0004t0002g0159a0002c0004t0002g0161 | 2 | 204 | 0.0098 | 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 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0111 | 1 | 204 | 0.0049 | 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 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0106 | 1 | 204 | 0.0049 | 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 | 204 | 0.0049 | 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 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0015 | 1 | 204 | 0.0049 | 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 | a0072 | a0072c0072 | a0072c0072t0013 | a0072c0072t0013g0358 | 1 | 380 | 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 | a0026c0077t0006g0024a0026c0097t0001g0313 | 2 | 380 | 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 |
a0031a0071 | a0031c0033a0071c0070 | a0031c0033t0001a0071c0070t0009 | a0031c0033t0001g0075a0031c0033t0001g0099a0071c0070t0009g0021 | 3 | 380 | 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(240): Show |
a0002a0003a0004others(44): Show | a0002c0001a0002c0068a0002c0069others(66): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(73): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0006others(226): Show | 243 | 380 | 0.6395 | 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 | a0036 | a0036c0107 | a0036c0107t0002 | a0036c0107t0002g0142 | 1 | 380 | 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 |
a0059a0074 | a0059c0074a0074c0048 | a0059c0074t0012a0074c0048t0004 | a0059c0074t0012g0354a0074c0048t0004g0252 | 2 | 380 | 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 | a0052 | a0052c0088 | a0052c0088t0001 | a0052c0088t0001g0261 | 1 | 380 | 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 |
a0021 | a0021c0023 | a0021c0023t0001 | a0021c0023t0001g0004a0021c0023t0001g0043 | 3 | 380 | 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 | ||
ADAMTS7_chr15_78754206_78816464 | 78765671 | C | G | missense_variant | MODERATE | HG06807.hp2 | a0044 | a0044c0115 | a0044c0115t0001 | a0044c0115t0001g0148 | 1 | 380 | 0.0026 | 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(240): Show |
a0002a0003a0004others(44): Show | a0002c0001a0002c0068a0002c0069others(66): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(73): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0006others(226): Show | 243 | 380 | 0.6395 | 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 | a0059 | a0059c0074 | a0059c0074t0012 | a0059c0074t0012g0354 | 1 | 380 | 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 | a0059 | a0059c0074 | a0059c0074t0012 | a0059c0074t0012g0354 | 1 | 380 | 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 |
a0002a0013a0015others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0006others(53): Show | 60 | 380 | 0.1579 | 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 |
a0027 | a0027c0041 | a0027c0041t0001 | a0027c0041t0001g0110a0027c0041t0001g0111 | 2 | 380 | 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 |
a0002a0013a0015others(10): Show | a0002c0001a0002c0068a0002c0069others(14): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(15): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0006others(61): Show | 68 | 380 | 0.1790 | 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 |
a0002a0013a0015others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0006others(53): Show | 60 | 380 | 0.1579 | 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 |
a0025 | a0025c0032 | a0025c0032t0001 | a0025c0032t0001g0199a0025c0032t0001g0230 | 2 | 380 | 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(44): Show |
a0005a0008a0014others(6): Show | a0005c0005a0005c0047a0005c0108others(8): Show | a0005c0005t0002a0005c0005t0011a0005c0047t0002others(9): Show | a0005c0005t0002g0007a0005c0005t0002g0009a0005c0005t0002g0116others(42): Show | 47 | 380 | 0.1237 | 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 |
a0002a0013a0015others(6): Show | a0002c0001a0002c0068a0002c0069others(10): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(11): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0006others(54): Show | 61 | 380 | 0.1605 | 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 | a0059 | a0059c0074 | a0059c0074t0012 | a0059c0074t0012g0354 | 1 | 380 | 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 |
a0002a0013a0015others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0006others(53): Show | 60 | 380 | 0.1579 | 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 |
a0002a0013a0015others(4): Show | a0002c0001a0002c0068a0002c0069others(8): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(9): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0006others(52): Show | 59 | 380 | 0.1553 | 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 |
a0002a0013a0015others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0006others(53): Show | 60 | 380 | 0.1579 | 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 |
a0002a0013a0015others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0006others(53): Show | 60 | 380 | 0.1579 | 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 | a0053 | a0053c0095 | a0053c0095t0001 | a0053c0095t0001g0047 | 1 | 380 | 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 |
a0002a0013a0015others(5): Show | a0002c0001a0002c0068a0002c0069others(9): Show | a0002c0001t0001a0002c0001t0006a0002c0068t0001others(10): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0006others(53): Show | 60 | 380 | 0.1579 | 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 |