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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM18_chr8_39579568_39735065 | 39668137 | A | G | missense_variant | MODERATE | NA18961.hp1 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0077 | 1 | 347 | 0.0029 | 0 | c.146 others(4): Show |
p.Tyr others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 14/20 | 1521/2400 | 1466/2220 | 489/739 | chr8 | TogoVar | ||
ADAM18_chr8_39579568_39735065 | 39680074 | C | T | missense_variant | MODERATE | HG04199.hp1 | a0014 | a0014c0018 | a0014c0018t0001 | a0014c0018t0001g0038 | 1 | 347 | 0.0029 | 0 | c.166 others(4): Show |
p.His others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 16/20 | 1724/2400 | 1669/2220 | 557/739 | chr8 | TogoVar | ||
ADAM18_chr8_39579568_39735065 | 39692661 | C | T | missense_variant | MODERATE | NA19074.hp1 NA19077.hp2 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0114a0007c0009t0001g0151 | 2 | 347 | 0.0058 | 0 | c.188 others(4): Show |
p.Thr others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 17/20 | 1938/2400 | 1883/2220 | 628/739 | chr8 | TogoVar | ||
ADAM18_chr8_39579568_39735065 | 39706848 | A | G | missense_variant | MODERATE | HG00733.hp1 HG01167.hp2 HG02074.hp1 others(11): Show |
a0002a0009a0013 | a0002c0003a0009c0023a0013c0017 | a0002c0003t0001a0009c0023t0001a0013c0017t0001 | a0002c0003t0001g0011a0002c0003t0001g0015a0002c0003t0001g0016others(11): Show | 14 | 347 | 0.0404 | 0 | c.196 others(4): Show |
p.Lys others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 18/20 | 2016/2400 | 1961/2220 | 654/739 | chr8 | TogoVar | ||
ADAM18_chr8_39579568_39735065 | 39723859 | G | T | missense_variant | MODERATE | HG02630.hp1 HG03209.hp2 NA18906.hp1 |
a0005 | a0005c0011a0005c0016 | a0005c0011t0001a0005c0016t0001 | a0005c0011t0001g0188a0005c0011t0001g0245a0005c0016t0001g0156 | 3 | 347 | 0.0087 | 0 | c.212 others(4): Show |
p.Arg others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 19/20 | 2184/2400 | 2129/2220 | 710/739 | chr8 | TogoVar | ||
ADAM18_chr8_39579568_39735065 | 39723876 | T | A | missense_variant | MODERATE | HG01167.hp2 HG02055.hp1 HG02280.hp2 others(6): Show |
a0004a0008a0009 | a0004c0005a0004c0019a0004c0022others(2): Show | a0004c0005t0001a0004c0019t0001a0004c0022t0001others(2): Show | a0004c0005t0001g0290a0004c0005t0001g0294a0004c0005t0001g0309others(6): Show | 9 | 347 | 0.0259 | 0 | c.214 others(4): Show |
p.Ser others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 19/20 | 2201/2400 | 2146/2220 | 716/739 | chr8 | TogoVar | ||
ADAM18_chr8_39579568_39735065 | 39723898 | A | G | missense_variant | MODERATE | HG01167.hp2 HG02055.hp1 HG02280.hp2 others(6): Show |
a0004a0008a0009 | a0004c0005a0004c0019a0004c0022others(2): Show | a0004c0005t0001a0004c0019t0001a0004c0022t0001others(2): Show | a0004c0005t0001g0290a0004c0005t0001g0294a0004c0005t0001g0309others(6): Show | 9 | 347 | 0.0259 | 0 | c.216 others(4): Show |
p.Glu others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 19/20 | 2223/2400 | 2168/2220 | 723/739 | chr8 | TogoVar | ||
ADAM19_chr5_157472304_157580775 | 157488402 | C | T | missense_variant | MODERATE | HG01884.hp1 HG02055.hp1 HG02818.hp2 others(6): Show |
a0005 | a0005c0005 | a0005c0005t0008 | a0005c0005t0008g0001a0005c0005t0008g0246a0005c0005t0008g0274others(4): Show | 9 | 310 | 0.0290 | 0 | c.241 others(4): Show |
p.Ala others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 21/23 | 2492/6481 | 2413/2757 | 805/918 | chr5 | TogoVar | ||
ADAM19_chr5_157472304_157580775 | 157490332 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(40): Show |
a0003a0004a0007others(3): Show | a0003c0003a0004c0004a0004c0013others(4): Show | a0003c0003t0004a0003c0003t0007a0003c0003t0011others(16): Show | a0003c0003t0004g0222a0003c0003t0004g0290a0003c0003t0007g0221others(40): Show | 43 | 310 | 0.1387 | 0 | c.221 others(4): Show |
p.Ser others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 19/23 | 2297/6481 | 2218/2757 | 740/918 | chr5 | TogoVar | ||
ADAM19_chr5_157472304_157580775 | 157491842 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(19): Show |
a0003a0008a0018 | a0003c0003a0008c0008a0018c0017 | a0003c0003t0004a0003c0003t0007a0003c0003t0011others(6): Show | a0003c0003t0004g0222a0003c0003t0004g0290a0003c0003t0007g0221others(19): Show | 22 | 310 | 0.0710 | 0 | c.197 others(4): Show |
p.Gly others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 17/23 | 2058/6481 | 1979/2757 | 660/918 | chr5 | TogoVar | ||
ADAM19_chr5_157472304_157580775 | 157496966 | C | T | missense_variant | MODERATE | HG00099.hp2 | a0016 | a0016c0020 | a0016c0020t0001 | a0016c0020t0001g0094 | 1 | 310 | 0.0032 | 0 | c.152 others(4): Show |
p.Gly others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 14/23 | 1601/6481 | 1522/2757 | 508/918 | chr5 | TogoVar | ||
ADAM19_chr5_157472304_157580775 | 157499598 | T | C | missense_variant | MODERATE | HG01243.hp1 HG02486.hp2 |
a0012 | a0012c0015 | a0012c0015t0024 | a0012c0015t0024g0271a0012c0015t0024g0272 | 2 | 310 | 0.0065 | 0 | c.137 others(4): Show |
p.His others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 13/23 | 1452/6481 | 1373/2757 | 458/918 | chr5 | TogoVar | ||
ADAM19_chr5_157472304_157580775 | 157502808 | C | T | missense_variant | MODERATE | HG01361.hp1 HG01433.hp2 |
a0014 | a0014c0012 | a0014c0012t0002 | a0014c0012t0002g0089a0014c0012t0002g0090 | 2 | 310 | 0.0065 | 0 | c.130 others(4): Show |
p.Glu others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 12/23 | 1382/6481 | 1303/2757 | 435/918 | chr5 | TogoVar | ||
ADAM19_chr5_157472304_157580775 | 157509356 | T | C | missense_variant | MODERATE | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(137): Show |
a0002a0004a0005others(6): Show | a0002c0002a0002c0014a0004c0004others(8): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(35): Show | a0002c0002t0001g0086a0002c0002t0002g0047a0002c0002t0002g0055others(133): Show | 140 | 310 | 0.4516 | 0 | c.850 others(3): Show |
p.Ser others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 9/23 | 929/6481 | 850/2757 | 284/918 | chr5 | TogoVar | ||
ADAM19_chr5_157472304_157580775 | 157537936 | G | C | missense_variant | MODERATE | HG02257.hp1 HG02572.hp1 HG02647.hp1 others(7): Show |
a0008a0009a0015others(1): Show | a0008c0008a0009c0009a0015c0021others(1): Show | a0008c0008t0004a0009c0009t0002a0015c0021t0002others(1): Show | a0008c0008t0004g0225a0008c0008t0004g0226a0008c0008t0004g0227others(6): Show | 10 | 310 | 0.0323 | 0 | c.307 others(3): Show |
p.Gln others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 4/23 | 386/6481 | 307/2757 | 103/918 | chr5 | TogoVar | ||
ADAM19_chr5_157472304_157580775 | 157575620 | C | A | missense_variant | MODERATE | HG02258.hp1 HG03540.hp2 |
a0011 | a0011c0016 | a0011c0016t0003a0011c0016t0007 | a0011c0016t0003g0301a0011c0016t0007g0300 | 2 | 310 | 0.0065 | 0 | c.77G others(2): Show |
p.Arg others(5): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 1/23 | 156/6481 | 77/2757 | 26/918 | chr5 | TogoVar | ||
ADAM19_chr5_157472304_157580775 | 157575687 | C | T | missense_variant | MODERATE | HG00280.hp1 HG00639.hp2 HG00738.hp1 others(13): Show |
a0006a0007a0010others(2): Show | a0006c0006a0007c0007a0010c0010others(2): Show | a0006c0006t0001a0006c0006t0013a0006c0006t0023others(8): Show | a0006c0006t0001g0010a0006c0006t0013g0012a0006c0006t0013g0013others(13): Show | 16 | 310 | 0.0516 | 0 | c.10G others(2): Show |
p.Gly others(4): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 1/23 | 89/6481 | 10/2757 | 4/918 | chr5 | TogoVar | ||
ADAM20_chr14_70517358_70540004 | 70522609 | G | A | missense_variant | MODERATE | NA18948.hp1 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0055 | 1 | 400 | 0.0025 | 0 | c.214 others(4): Show |
p.Arg others(6): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | 2533/2784 | 2149/2181 | 717/726 | chr14 | TogoVar | ||
ADAM20_chr14_70517358_70540004 | 70523134 | C | T | missense_variant | MODERATE | NA18942.hp2 NA18975.hp2 NA18981.hp1 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002 | a0003c0004t0001g0020a0003c0004t0001g0034a0003c0004t0002g0047 | 6 | 400 | 0.0150 | 0 | c.162 others(4): Show |
p.Gly others(6): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | 2008/2784 | 1624/2181 | 542/726 | chr14 | TogoVar | ||
ADAM20_chr14_70517358_70540004 | 70523230 | T | C | missense_variant | MODERATE | HG01884.hp1 HG02145.hp2 HG02258.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0037a0002c0003t0001g0038a0002c0003t0001g0039others(2): Show | 8 | 400 | 0.0200 | 0 | c.152 others(4): Show |
p.Asn others(6): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | 1912/2784 | 1528/2181 | 510/726 | chr14 | TogoVar | ||
ADAM20_chr14_70517358_70540004 | 70523238 | G | C | missense_variant | MODERATE | HG00642.hp1 HG00735.hp2 HG01099.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0021 | 3 | 400 | 0.0075 | 0 | c.152 others(4): Show |
p.Thr others(6): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | 1904/2784 | 1520/2181 | 507/726 | chr14 | TogoVar | ||
ADAM20_chr14_70517358_70540004 | 70523882 | T | G | missense_variant | MODERATE | HG02896.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0057 | 1 | 400 | 0.0025 | 0 | c.876 others(3): Show |
p.Gln others(6): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | 1260/2784 | 876/2181 | 292/726 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70457569 | T | C | missense_variant | MODERATE | HG01891.hp2 HG02280.hp1 HG02451.hp2 others(4): Show |
a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0008 | 7 | 426 | 0.0164 | 0 | c.70T others(2): Show |
p.Ser others(5): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 311/2647 | 70/2169 | 24/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70457696 | G | A | missense_variant | MODERATE | HG02896.hp1 | a0011 | a0011c0025 | a0011c0025t0003 | a0011c0025t0003g0050 | 1 | 426 | 0.0024 | 0 | c.197 others(3): Show |
p.Arg others(5): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 438/2647 | 197/2169 | 66/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70457724 | T | A | missense_variant | MODERATE | NA18999.hp1 | a0021 | a0021c0019 | a0021c0019t0001 | a0021c0019t0001g0004 | 1 | 426 | 0.0024 | 0 | c.225 others(3): Show |
p.His others(5): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 466/2647 | 225/2169 | 75/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70457784 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(400): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0003a0001c0005others(29): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0003others(31): Show | a0001c0002t0001g0003a0001c0002t0001g0005a0001c0002t0001g0009others(60): Show | 403 | 426 | 0.9460 | 0 | c.285 others(3): Show |
p.Asp others(5): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 526/2647 | 285/2169 | 95/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70457836 | G | A | missense_variant | MODERATE | NA18955.hp1 NA19057.hp1 |
a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0003 | 2 | 426 | 0.0047 | 0 | c.337 others(3): Show |
p.Gly others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 578/2647 | 337/2169 | 113/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70457849 | C | G | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(183): Show |
a0002a0003a0004others(11): Show | a0002c0001a0002c0015a0002c0018others(19): Show | a0002c0001t0002a0002c0015t0002a0002c0018t0002others(19): Show | a0002c0001t0002g0002a0002c0001t0002g0006a0002c0001t0002g0007others(30): Show | 186 | 426 | 0.4366 | 0 | c.350 others(3): Show |
p.Ala others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 591/2647 | 350/2169 | 117/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70457885 | T | G | missense_variant | MODERATE | HG01069.hp2 HG02976.hp1 NA18522.hp2 |
a0009a0012 | a0009c0017a0012c0020 | a0009c0017t0006a0012c0020t0003 | a0009c0017t0006g0024a0012c0020t0003g0047 | 3 | 426 | 0.0070 | 0 | c.386 others(3): Show |
p.Phe others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 627/2647 | 386/2169 | 129/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70457980 | A | G | missense_variant | MODERATE | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(131): Show |
a0002a0006a0007others(7): Show | a0002c0001a0002c0015a0002c0018others(11): Show | a0002c0001t0002a0002c0015t0002a0002c0018t0002others(11): Show | a0002c0001t0002g0002a0002c0001t0002g0006a0002c0001t0002g0007others(21): Show | 134 | 426 | 0.3146 | 0 | c.481 others(3): Show |
p.Ile others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 722/2647 | 481/2169 | 161/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70458238 | A | C | missense_variant | MODERATE | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(132): Show |
a0002a0006a0007others(8): Show | a0002c0001a0002c0015a0002c0018others(12): Show | a0002c0001t0002a0002c0015t0002a0002c0018t0002others(12): Show | a0002c0001t0002g0002a0002c0001t0002g0006a0002c0001t0002g0007others(22): Show | 135 | 426 | 0.3169 | 0 | c.739 others(3): Show |
p.Lys others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 980/2647 | 739/2169 | 247/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70458385 | C | T | missense_variant | MODERATE | HG02015.hp2 HG02132.hp1 NA18962.hp2 others(3): Show |
a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0002 | 6 | 426 | 0.0141 | 0 | c.886 others(3): Show |
p.His others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 1127/2647 | 886/2169 | 296/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70458444 | A | G | missense_variant | MODERATE | HG02135.hp2 NA18939.hp1 NA18947.hp2 others(1): Show |
a0008 | a0008c0013 | a0008c0013t0002 | a0008c0013t0002g0013 | 4 | 426 | 0.0094 | 0 | c.945 others(3): Show |
p.Ile others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 1186/2647 | 945/2169 | 315/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70458555 | T | G | missense_variant | MODERATE | NA19005.hp1 | a0020 | a0020c0033 | a0020c0033t0002 | a0020c0033t0002g0002 | 1 | 426 | 0.0024 | 0 | c.105 others(4): Show |
p.Asp others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 1297/2647 | 1056/2169 | 352/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70458784 | G | C | missense_variant | MODERATE | HG01069.hp2 NA18522.hp2 |
a0009 | a0009c0017 | a0009c0017t0006 | a0009c0017t0006g0024 | 2 | 426 | 0.0047 | 0 | c.128 others(4): Show |
p.Glu others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 1526/2647 | 1285/2169 | 429/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70458842 | T | A | missense_variant | MODERATE | HG02735.hp2 | a0019 | a0019c0034 | a0019c0034t0002 | a0019c0034t0002g0002 | 1 | 426 | 0.0024 | 0 | c.134 others(4): Show |
p.Phe others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 1584/2647 | 1343/2169 | 448/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70458944 | A | G | missense_variant | MODERATE | NA21309.hp1 | a0018 | a0018c0037 | a0018c0037t0002 | a0018c0037t0002g0006 | 1 | 426 | 0.0024 | 0 | c.144 others(4): Show |
p.His others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 1686/2647 | 1445/2169 | 482/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70459300 | A | G | missense_variant | MODERATE | NA19010.hp1 | a0017 | a0017c0036 | a0017c0036t0002 | a0017c0036t0002g0002 | 1 | 426 | 0.0024 | 0 | c.180 others(4): Show |
p.Ile others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 2042/2647 | 1801/2169 | 601/722 | chr14 | TogoVar | ||
ADAM21_chr14_70447174_70464905 | 70459540 | G | A | missense_variant | MODERATE | HG02451.hp1 | a0016 | a0016c0022 | a0016c0022t0001 | a0016c0022t0001g0004 | 1 | 426 | 0.0024 | 0 | c.204 others(4): Show |
p.Gly others(6): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2/2 | 2282/2647 | 2041/2169 | 681/722 | chr14 | TogoVar | ||
ADAM22_chr7_87929251_88207889 | 87934479 | T | G | missense_variant | MODERATE | HG02165.hp1 | a0008 | a0008c0008 | a0008c0008t0004 | a0008c0008t0004g0122 | 1 | 230 | 0.0044 | 0 | c.14T others(2): Show |
p.Val others(4): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 1/32 | 229/9508 | 14/2895 | 5/964 | chr7 | TogoVar | ||
ADAM22_chr7_87929251_88207889 | 87935073 | G | A | missense_variant | MODERATE | HG00423.hp1 NA18952.hp1 NA18970.hp2 others(5): Show |
a0004a0006a0009 | a0004c0004a0006c0006a0009c0009 | a0004c0004t0001a0004c0004t0002a0006c0006t0001others(1): Show | a0004c0004t0001g0074a0004c0004t0002g0067a0004c0004t0002g0070others(5): Show | 8 | 230 | 0.0348 | 0 | c.133 others(3): Show |
p.Val others(5): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 2/32 | 348/9508 | 133/2895 | 45/964 | chr7 | TogoVar | ||
ADAM22_chr7_87929251_88207889 | 87935103 | C | T | missense_variant | MODERATE | HG03490.hp1 | a0010 | a0010c0020 | a0010c0020t0001 | a0010c0020t0001g0224 | 1 | 230 | 0.0044 | 0 | c.163 others(3): Show |
p.Leu others(5): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 2/32 | 378/9508 | 163/2895 | 55/964 | chr7 | TogoVar | ||
ADAM22_chr7_87929251_88207889 | 87935182 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(178): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0012a0001c0014others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(178): Show | 181 | 230 | 0.7870 | 0 | c.242 others(3): Show |
p.Pro others(5): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 2/32 | 457/9508 | 242/2895 | 81/964 | chr7 | TogoVar | ||
ADAM22_chr7_87929251_88207889 | 88075657 | C | T | missense_variant | MODERATE | HG03209.hp1 NA18980.hp2 NA18988.hp1 others(5): Show |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0001a0004c0004t0002a0005c0005t0001others(2): Show | a0004c0004t0001g0074a0004c0004t0002g0067a0004c0004t0002g0070others(5): Show | 8 | 230 | 0.0348 | 0 | c.355 others(3): Show |
p.His others(6): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 4/32 | 570/9508 | 355/2895 | 119/964 | chr7 | TogoVar | ||
ADAM22_chr7_87929251_88207889 | 88075684 | G | A | missense_variant | MODERATE | HG01192.hp2 | a0011 | a0011c0010 | a0011c0010t0002 | a0011c0010t0002g0223 | 1 | 230 | 0.0044 | 0 | c.382 others(3): Show |
p.Glu others(6): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 4/32 | 597/9508 | 382/2895 | 128/964 | chr7 | TogoVar | ||
ADAM22_chr7_87929251_88207889 | 88116788 | A | C | missense_variant | MODERATE | HG02165.hp1 | a0008 | a0008c0008 | a0008c0008t0004 | a0008c0008t0004g0122 | 1 | 230 | 0.0044 | 0 | c.581 others(3): Show |
p.Glu others(6): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 7/32 | 796/9508 | 581/2895 | 194/964 | chr7 | TogoVar | ||
ADAM22_chr7_87929251_88207889 | 88125600 | G | A | missense_variant | MODERATE | HG00140.hp1 HG00423.hp2 HG01978.hp1 others(20): Show |
a0003a0009 | a0003c0003a0009c0009 | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(5): Show | a0003c0003t0001g0007a0003c0003t0001g0009a0003c0003t0001g0023others(20): Show | 23 | 230 | 0.1000 | 0 | c.619 others(3): Show |
p.Val others(6): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 8/32 | 834/9508 | 619/2895 | 207/964 | chr7 | TogoVar | ||
ADAM22_chr7_87929251_88207889 | 88163061 | G | A | missense_variant | MODERATE | NA18971.hp2 | a0015 | a0015c0013 | a0015c0013t0002 | a0015c0013t0002g0002 | 1 | 230 | 0.0044 | 0 | c.195 others(4): Show |
p.Asp others(6): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 23/32 | 2172/9508 | 1957/2895 | 653/964 | chr7 | TogoVar | ||
ADAM22_chr7_87929251_88207889 | 88165908 | A | G | missense_variant | MODERATE | HG00738.hp1 | a0014 | a0014c0017 | a0014c0017t0004 | a0014c0017t0004g0049 | 1 | 230 | 0.0044 | 0 | c.215 others(4): Show |
p.Asn others(6): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 24/32 | 2368/9508 | 2153/2895 | 718/964 | chr7 | TogoVar | ||
ADAM22_chr7_87929251_88207889 | 88193166 | C | T | missense_variant | MODERATE | NA19070.hp2 | a0012 | a0012c0016 | a0012c0016t0002 | a0012c0016t0002g0042 | 1 | 230 | 0.0044 | 0 | c.280 others(4): Show |
p.Ser others(6): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 31/32 | 3016/9508 | 2801/2895 | 934/964 | chr7 | TogoVar |