| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADAM10_chr15_58583809_58754707 | 58627800 | T | C | synonymous_variant | LOW | NA18964.hp2 NA18967.hp2 NA18977.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0010 | a0001c0002t0001g0115a0001c0002t0001g0117a0001c0002t0001g0119others(3): Show | 6 | 342 | 0.0175 | 0 | c.126 others(4): Show |
p.Arg others(6): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 10/16 | 1433/11158 | 1260/2247 | 420/748 | chr15 | TogoVar | ||
| ADAM10_chr15_58583809_58754707 | 58717609 | T | C | synonymous_variant | LOW | HG02155.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0252 | 1 | 342 | 0.0029 | 0 | c.174 others(3): Show |
p.Gln others(5): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/16 | 347/11158 | 174/2247 | 58/748 | chr15 | TogoVar | ||
| ADAM11_chr17_44753988_44786846 | 44759765 | C | T | synonymous_variant | LOW | HG01109.hp1 HG03579.hp1 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0229a0001c0004t0005g0230 | 2 | 336 | 0.0060 | 0 | c.105 others(3): Show |
p.Gly others(5): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2/27 | 317/4614 | 105/2310 | 35/769 | chr17 | TogoVar | ||
| ADAM11_chr17_44753988_44786846 | 44770027 | G | A | synonymous_variant | LOW | HG01261.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0003 | 1 | 336 | 0.0030 | 0 | c.360 others(3): Show |
p.Glu others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 4/27 | 572/4614 | 360/2310 | 120/769 | chr17 | TogoVar | ||
| ADAM11_chr17_44753988_44786846 | 44770048 | C | T | splice_region_variant others(1): Show |
LOW | HG02809.hp1 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0015 | 1 | 336 | 0.0030 | 0 | c.381 others(3): Show |
p.Thr others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 4/27 | 593/4614 | 381/2310 | 127/769 | chr17 | TogoVar | ||
| ADAM11_chr17_44753988_44786846 | 44774361 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(197): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(134): Show | 200 | 336 | 0.5952 | 0 | c.105 others(4): Show |
p.His others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 12/27 | 1271/4614 | 1059/2310 | 353/769 | chr17 | TogoVar | ||
| ADAM11_chr17_44753988_44786846 | 44775236 | G | T | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(197): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(134): Show | 200 | 336 | 0.5952 | 0 | c.124 others(4): Show |
p.Ser others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 15/27 | 1457/4614 | 1245/2310 | 415/769 | chr17 | TogoVar | ||
| ADAM11_chr17_44753988_44786846 | 44775242 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(285): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(207): Show | 288 | 336 | 0.8571 | 0 | c.125 others(4): Show |
p.Cys others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 15/27 | 1463/4614 | 1251/2310 | 417/769 | chr17 | TogoVar | ||
| ADAM11_chr17_44753988_44786846 | 44777242 | T | C | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(197): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(134): Show | 200 | 336 | 0.5952 | 0 | c.175 others(4): Show |
p.Ser others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 21/27 | 1970/4614 | 1758/2310 | 586/769 | chr17 | TogoVar | ||
| ADAM11_chr17_44753988_44786846 | 44777590 | G | A | synonymous_variant | LOW | HG00544.hp2 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0001 | 1 | 336 | 0.0030 | 0 | c.189 others(4): Show |
p.Glu others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 22/27 | 2102/4614 | 1890/2310 | 630/769 | chr17 | TogoVar | ||
| ADAM11_chr17_44753988_44786846 | 44778053 | G | A | synonymous_variant | LOW | HG00558.hp1 | a0001 | a0001c0007 | a0001c0007t0029 | a0001c0007t0029g0191 | 1 | 336 | 0.0030 | 0 | c.217 others(4): Show |
p.Thr others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 24/27 | 2384/4614 | 2172/2310 | 724/769 | chr17 | TogoVar | ||
| ADAM11_chr17_44753988_44786846 | 44778186 | T | C | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(197): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(134): Show | 200 | 336 | 0.5952 | 0 | c.222 others(4): Show |
p.Ile others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 25/27 | 2432/4614 | 2220/2310 | 740/769 | chr17 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126017294 | G | A | synonymous_variant | LOW | HG02027.hp1 NA18979.hp2 |
a0002 | a0002c0024 | a0002c0024t0012 | a0002c0024t0012g0121a0002c0024t0012g0238 | 2 | 252 | 0.0079 | 0 | c.270 others(4): Show |
p.Thr others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 23/23 | 3038/7941 | 2706/2721 | 902/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126036209 | A | G | synonymous_variant | LOW | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(73): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0009a0001c0012others(19): Show | a0001c0003t0003a0001c0003t0007a0001c0003t0009others(45): Show | a0001c0003t0003g0025a0001c0003t0003g0030a0001c0003t0003g0041others(73): Show | 76 | 252 | 0.3016 | 0 | c.246 others(4): Show |
p.Ala others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 21/23 | 2798/7941 | 2466/2721 | 822/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126038277 | G | A | synonymous_variant | LOW | HG02486.hp1 | a0001 | a0001c0037 | a0001c0037t0011 | a0001c0037t0011g0043 | 1 | 252 | 0.0040 | 0 | c.231 others(4): Show |
p.Gly others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 20/23 | 2645/7941 | 2313/2721 | 771/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126038280 | T | C | synonymous_variant | LOW | HG02559.hp2 HG02572.hp1 HG02895.hp2 others(2): Show |
a0001a0007 | a0001c0020a0001c0021a0007c0056 | a0001c0020t0021a0001c0020t0050a0001c0021t0021others(1): Show | a0001c0020t0021g0174a0001c0020t0050g0187a0001c0021t0021g0076others(2): Show | 5 | 252 | 0.0198 | 0 | c.231 others(4): Show |
p.Lys others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 20/23 | 2642/7941 | 2310/2721 | 770/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126039344 | G | A | synonymous_variant | LOW | HG00423.hp2 HG02132.hp1 HG02165.hp1 others(5): Show |
a0001a0002a0003 | a0001c0013a0001c0033a0002c0016others(1): Show | a0001c0013t0001a0001c0033t0001a0002c0016t0001others(2): Show | a0001c0013t0001g0023a0001c0013t0001g0026a0001c0013t0001g0027others(5): Show | 8 | 252 | 0.0318 | 0 | c.219 others(4): Show |
p.Thr others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 19/23 | 2522/7941 | 2190/2721 | 730/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126039374 | G | A | synonymous_variant | LOW | NA19004.hp2 | a0001 | a0001c0038 | a0001c0038t0009 | a0001c0038t0009g0070 | 1 | 252 | 0.0040 | 0 | c.216 others(4): Show |
p.Ala others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 19/23 | 2492/7941 | 2160/2721 | 720/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126049361 | G | A | synonymous_variant | LOW | HG00140.hp2 HG00639.hp2 HG01167.hp1 others(10): Show |
a0001a0002 | a0001c0008a0001c0031a0001c0042others(3): Show | a0001c0008t0001a0001c0008t0002a0001c0008t0040others(6): Show | a0001c0008t0001g0078a0001c0008t0002g0047a0001c0008t0002g0153others(10): Show | 13 | 252 | 0.0516 | 0 | c.180 others(4): Show |
p.Pro others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 16/23 | 2141/7941 | 1809/2721 | 603/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126064819 | C | T | synonymous_variant | LOW | HG00140.hp1 HG01071.hp1 HG01192.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0010a0001c0036a0002c0007others(3): Show | a0001c0010t0001a0001c0010t0002a0001c0036t0003others(5): Show | a0001c0010t0001g0216a0001c0010t0001g0218a0001c0010t0002g0128others(12): Show | 15 | 252 | 0.0595 | 0 | c.159 others(4): Show |
p.Thr others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/23 | 1928/7941 | 1596/2721 | 532/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126064909 | G | A | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(57): Show |
a0001a0002a0004others(8): Show | a0001c0004a0001c0008a0001c0014others(17): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0004others(36): Show | a0001c0004t0001g0036a0001c0004t0002g0029a0001c0004t0002g0034others(57): Show | 60 | 252 | 0.2381 | 0 | c.150 others(4): Show |
p.Asn others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/23 | 1838/7941 | 1506/2721 | 502/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126064981 | C | T | synonymous_variant | LOW | NA20129.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0202 | 1 | 252 | 0.0040 | 0 | c.143 others(4): Show |
p.Ala others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/23 | 1766/7941 | 1434/2721 | 478/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126064996 | C | T | synonymous_variant | LOW | HG02027.hp2 | a0002 | a0002c0050 | a0002c0050t0004 | a0002c0050t0004g0221 | 1 | 252 | 0.0040 | 0 | c.141 others(4): Show |
p.Lys others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/23 | 1751/7941 | 1419/2721 | 473/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126098443 | C | T | synonymous_variant | LOW | HG00323.hp1 HG00438.hp2 HG02015.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0009a0001c0033a0002c0011others(4): Show | a0001c0009t0007a0001c0009t0010a0001c0009t0015others(9): Show | a0001c0009t0007g0138a0001c0009t0010g0096a0001c0009t0015g0207others(10): Show | 13 | 252 | 0.0516 | 0 | c.969 others(3): Show |
p.Thr others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 10/23 | 1301/7941 | 969/2721 | 323/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126135598 | C | T | synonymous_variant | LOW | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(8): Show |
a0001a0002a0003 | a0001c0012a0001c0019a0001c0031others(3): Show | a0001c0012t0014a0001c0019t0018a0001c0019t0044others(6): Show | a0001c0012t0014g0079a0001c0012t0014g0085a0001c0012t0014g0180others(8): Show | 11 | 252 | 0.0437 | 0 | c.402 others(3): Show |
p.Thr others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/23 | 734/7941 | 402/2721 | 134/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126135643 | A | G | synonymous_variant | LOW | NA18998.hp2 NA19070.hp1 |
a0002 | a0002c0023 | a0002c0023t0026 | a0002c0023t0026g0073a0002c0023t0026g0229 | 2 | 252 | 0.0079 | 0 | c.357 others(3): Show |
p.His others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/23 | 689/7941 | 357/2721 | 119/906 | chr10 | TogoVar | ||
| ADAM12_chr10_126007391_126393477 | 126278964 | G | T | synonymous_variant | LOW | HG01123.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0075 | 1 | 252 | 0.0040 | 0 | c.211 others(3): Show |
p.Arg others(5): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/23 | 543/7941 | 211/2721 | 71/906 | chr10 | TogoVar | ||
| ADAM15_chr1_155046316_155067775 | 155054395 | G | T | synonymous_variant | LOW | HG01081.hp2 HG01167.hp2 HG01169.hp1 others(17): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0002a0001c0004t0001g0010a0001c0004t0001g0013others(6): Show | 20 | 324 | 0.0617 | 0 | c.501 others(3): Show |
p.Ser others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 6/23 | 572/2936 | 501/2592 | 167/863 | chr1 | TogoVar | ||
| ADAM15_chr1_155046316_155067775 | 155055849 | G | A | synonymous_variant | LOW | NA18981.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0001 | 1 | 324 | 0.0031 | 0 | c.672 others(3): Show |
p.Ser others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 7/23 | 743/2936 | 672/2592 | 224/863 | chr1 | TogoVar | ||
| ADAM15_chr1_155046316_155067775 | 155057272 | C | T | synonymous_variant | LOW | HG02451.hp1 HG02965.hp1 |
a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0063a0001c0013t0001g0079 | 2 | 324 | 0.0062 | 0 | c.123 others(4): Show |
p.Phe others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 12/23 | 1304/2936 | 1233/2592 | 411/863 | chr1 | TogoVar | ||
| ADAM15_chr1_155046316_155067775 | 155058081 | A | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(97): Show |
a0001a0002a0011 | a0001c0002a0001c0004a0001c0010others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(4): Show | a0001c0002t0001g0002a0001c0002t0001g0006a0001c0002t0001g0010others(40): Show | 100 | 324 | 0.3086 | 0 | c.164 others(4): Show |
p.Thr others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 14/23 | 1718/2936 | 1647/2592 | 549/863 | chr1 | TogoVar | ||
| ADAM15_chr1_155046316_155067775 | 155059958 | C | T | synonymous_variant | LOW | NA18998.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0001 | 1 | 324 | 0.0031 | 0 | c.205 others(4): Show |
p.Cys others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 17/23 | 2123/2936 | 2052/2592 | 684/863 | chr1 | TogoVar | ||
| ADAM15_chr1_155046316_155067775 | 155060832 | G | A | splice_region_variant others(1): Show |
LOW | HG00735.hp2 HG01074.hp1 HG01192.hp1 others(11): Show |
a0001a0003 | a0001c0010a0001c0012a0003c0007 | a0001c0010t0001a0001c0012t0001a0003c0007t0001 | a0001c0010t0001g0037a0001c0010t0001g0090a0001c0012t0001g0031others(3): Show | 14 | 324 | 0.0432 | 0 | c.227 others(4): Show |
p.Lys others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 19/23 | 2348/2936 | 2277/2592 | 759/863 | chr1 | TogoVar | ||
| ADAM17_chr2_9483486_9560830 | 9490306 | G | A | synonymous_variant | LOW | HG03490.hp1 | a0001 | a0001c0008 | a0001c0008t0074 | a0001c0008t0074g0180 | 1 | 234 | 0.0043 | 0 | c.234 others(4): Show |
p.Phe others(6): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 19/19 | 2571/4391 | 2346/2475 | 782/824 | chr2 | TogoVar | ||
| ADAM17_chr2_9483486_9560830 | 9494727 | A | G | synonymous_variant | LOW | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(135): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0006a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(59): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(135): Show | 138 | 234 | 0.5897 | 0 | c.182 others(4): Show |
p.Ser others(6): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 15/19 | 2049/4391 | 1824/2475 | 608/824 | chr2 | TogoVar | ||
| ADAM17_chr2_9483486_9560830 | 9497202 | A | G | synonymous_variant | LOW | NA20805.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0004 | 1 | 234 | 0.0043 | 0 | c.169 others(4): Show |
p.Thr others(6): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 14/19 | 1920/4391 | 1695/2475 | 565/824 | chr2 | TogoVar | ||
| ADAM17_chr2_9483486_9560830 | 9535849 | G | C | synonymous_variant | LOW | HG00639.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0032 | 1 | 234 | 0.0043 | 0 | c.435 others(3): Show |
p.Ala others(6): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 4/19 | 660/4391 | 435/2475 | 145/824 | chr2 | TogoVar | ||
| ADAM17_chr2_9483486_9560830 | 9535876 | A | G | synonymous_variant | LOW | HG01123.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0213 | 1 | 234 | 0.0043 | 0 | c.408 others(3): Show |
p.Val others(6): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 4/19 | 633/4391 | 408/2475 | 136/824 | chr2 | TogoVar | ||
| ADAM17_chr2_9483486_9560830 | 9536738 | G | A | synonymous_variant | LOW | HG04199.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0010 | 1 | 234 | 0.0043 | 0 | c.321 others(3): Show |
p.Tyr others(6): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 3/19 | 546/4391 | 321/2475 | 107/824 | chr2 | TogoVar | ||
| ADAM17_chr2_9483486_9560830 | 9555525 | G | A | synonymous_variant | LOW | HG03654.hp1 | a0001 | a0001c0014 | a0001c0014t0006 | a0001c0014t0006g0233 | 1 | 234 | 0.0043 | 0 | c.81C others(2): Show |
p.Gly others(5): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 1/19 | 306/4391 | 81/2475 | 27/824 | chr2 | TogoVar | ||
| ADAM18_chr8_39579568_39735065 | 39584664 | G | A | synonymous_variant | LOW | HG03139.hp2 HG03195.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0195a0001c0007t0001g0227 | 2 | 347 | 0.0058 | 0 | c.42G others(2): Show |
p.Leu others(5): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 1/20 | 97/2400 | 42/2220 | 14/739 | chr8 | TogoVar | ||
| ADAM18_chr8_39579568_39735065 | 39637555 | T | C | synonymous_variant | LOW | HG00733.hp1 HG01167.hp2 HG02055.hp2 others(12): Show |
a0001a0002a0009 | a0001c0008a0002c0003a0009c0023 | a0001c0008t0003a0002c0003t0001a0009c0023t0001 | a0001c0008t0003g0012a0001c0008t0003g0013a0002c0003t0001g0011others(12): Show | 15 | 347 | 0.0432 | 0 | c.679 others(3): Show |
p.Leu others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 9/20 | 734/2400 | 679/2220 | 227/739 | chr8 | TogoVar | ||
| ADAM18_chr8_39579568_39735065 | 39638510 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(188): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0008a0001c0010others(15): Show | a0001c0002t0001a0001c0008t0003a0001c0010t0001others(16): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0003others(184): Show | 191 | 347 | 0.5504 | 0 | c.873 others(3): Show |
p.Thr others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 10/20 | 928/2400 | 873/2220 | 291/739 | chr8 | TogoVar | ||
| ADAM18_chr8_39579568_39735065 | 39663842 | G | A | synonymous_variant | LOW | HG03041.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0217 | 1 | 347 | 0.0029 | 0 | c.127 others(4): Show |
p.Lys others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 13/20 | 1333/2400 | 1278/2220 | 426/739 | chr8 | TogoVar | ||
| ADAM18_chr8_39579568_39735065 | 39668147 | C | T | synonymous_variant | LOW | HG02895.hp2 | a0004 | a0004c0019 | a0004c0019t0001 | a0004c0019t0001g0106 | 1 | 347 | 0.0029 | 0 | c.147 others(4): Show |
p.Asn others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 14/20 | 1531/2400 | 1476/2220 | 492/739 | chr8 | TogoVar | ||
| ADAM18_chr8_39579568_39735065 | 39668162 | T | C | synonymous_variant | LOW | HG00738.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0029 | 1 | 347 | 0.0029 | 0 | c.149 others(4): Show |
p.Thr others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 14/20 | 1546/2400 | 1491/2220 | 497/739 | chr8 | TogoVar | ||
| ADAM18_chr8_39579568_39735065 | 39680097 | C | T | synonymous_variant | LOW | HG00733.hp1 HG01167.hp2 HG02074.hp1 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0010a0002c0003a0003c0004others(2): Show | a0001c0010t0001a0002c0003t0001a0003c0004t0001others(3): Show | a0001c0010t0001g0033a0001c0010t0001g0042a0002c0003t0001g0011others(23): Show | 26 | 347 | 0.0749 | 0 | c.169 others(4): Show |
p.Asp others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 16/20 | 1747/2400 | 1692/2220 | 564/739 | chr8 | TogoVar | ||
| ADAM18_chr8_39579568_39735065 | 39723770 | C | T | synonymous_variant | LOW | NA18980.hp1 NA18986.hp2 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0005 | 2 | 347 | 0.0058 | 0 | c.204 others(4): Show |
p.Gly others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 19/20 | 2095/2400 | 2040/2220 | 680/739 | chr8 | TogoVar | ||
| ADAM18_chr8_39579568_39735065 | 39723854 | T | C | synonymous_variant | LOW | HG01167.hp2 | a0009 | a0009c0023 | a0009c0023t0001 | a0009c0023t0001g0014 | 1 | 347 | 0.0029 | 0 | c.212 others(4): Show |
p.Phe others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 19/20 | 2179/2400 | 2124/2220 | 708/739 | chr8 | TogoVar | ||
| ADAM19_chr5_157472304_157580775 | 157488289 | G | A | synonymous_variant | LOW | HG01243.hp2 HG02055.hp2 HG02145.hp2 others(9): Show |
a0004 | a0004c0004 | a0004c0004t0010a0004c0004t0018a0004c0004t0032others(1): Show | a0004c0004t0010g0088a0004c0004t0010g0237a0004c0004t0010g0252others(9): Show | 12 | 310 | 0.0387 | 0 | c.252 others(4): Show |
p.Pro others(6): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 21/23 | 2605/6481 | 2526/2757 | 842/918 | chr5 | TogoVar |