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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN2_chr1_236681499_236769631 | 236686691 | C | A | synonymous_variant | LOW | HG03492.hp1 | a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0109 | 1 | 342 | 0.0029 | 0 | c.18C others(2): Show |
p.Pro others(4): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/21 | 193/4872 | 18/2685 | 6/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236717902 | C | T | synonymous_variant | LOW | NA19063.hp2 | a0008 | a0008c0033 | a0008c0033t0003 | a0008c0033t0003g0167 | 1 | 342 | 0.0029 | 0 | c.171 others(3): Show |
p.Thr others(5): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 346/4872 | 171/2685 | 57/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236717917 | C | T | synonymous_variant | LOW | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0015 | a0001c0015t0016 | a0001c0015t0016g0114 a0001c0015t0016g0116 |
2 | 342 | 0.0058 | 0 | c.186 others(3): Show |
p.Ile others(5): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 361/4872 | 186/2685 | 62/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236717941 | T | A | synonymous_variant | LOW | NA19063.hp2 | a0008 | a0008c0033 | a0008c0033t0003 | a0008c0033t0003g0167 | 1 | 342 | 0.0029 | 0 | c.210 others(3): Show |
p.Leu others(5): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 385/4872 | 210/2685 | 70/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236717947 | C | A | synonymous_variant | LOW | NA19063.hp2 | a0008 | a0008c0033 | a0008c0033t0003 | a0008c0033t0003g0167 | 1 | 342 | 0.0029 | 0 | c.216 others(3): Show |
p.Leu others(5): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 391/4872 | 216/2685 | 72/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236719003 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(333): Show |
337 | 342 | 0.9854 | 0 | c.351 others(3): Show |
p.Ile others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 3/21 | 526/4872 | 351/2685 | 117/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236720121 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(302): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(302): Show |
305 | 342 | 0.8918 | 0 | c.378 others(3): Show |
p.Asn others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/21 | 553/4872 | 378/2685 | 126/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236735642 | G | C | synonymous_variant | LOW | HG00323.hp1 HG02083.hp2 HG02129.hp1 others(12): Show |
a0001a0002 | a0001c0009a0001c0021a0002c0005others(2): Show | a0001c0009t0003a0001c0021t0001a0002c0005t0004others(2): Show | a0001c0009t0003g0012 a0001c0009t0003g0014 a0001c0009t0003g0039 others(12): Show |
15 | 342 | 0.0439 | 0 | c.705 others(3): Show |
p.Val others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 8/21 | 880/4872 | 705/2685 | 235/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236737208 | G | A | synonymous_variant | LOW | HG02055.hp2 HG02897.hp2 HG03098.hp1 |
a0001a0005 | a0001c0011a0005c0017 | a0001c0011t0004a0001c0011t0005a0005c0017t0024 | a0001c0011t0004g0102 a0001c0011t0005g0101 a0005c0017t0024g0100 |
3 | 342 | 0.0088 | 0 | c.870 others(3): Show |
p.Ala others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/21 | 1045/4872 | 870/2685 | 290/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236739343 | C | T | synonymous_variant | LOW | NA18940.hp1 | a0001 | a0001c0030 | a0001c0030t0002 | a0001c0030t0002g0267 | 1 | 342 | 0.0029 | 0 | c.918 others(3): Show |
p.Asn others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 10/21 | 1093/4872 | 918/2685 | 306/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236739352 | C | T | synonymous_variant | LOW | HG02970.hp1 | a0001 | a0001c0029 | a0001c0029t0005 | a0001c0029t0005g0108 | 1 | 342 | 0.0029 | 0 | c.927 others(3): Show |
p.Pro others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 10/21 | 1102/4872 | 927/2685 | 309/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236744666 | G | A | synonymous_variant | LOW | HG01106.hp2 HG01168.hp1 HG02572.hp1 others(9): Show |
a0001a0004 | a0001c0007a0001c0010a0001c0029others(2): Show | a0001c0007t0004a0001c0007t0015a0001c0010t0002others(3): Show | a0001c0007t0004g0070 a0001c0007t0004g0084 a0001c0007t0004g0086 others(9): Show |
12 | 342 | 0.0351 | 0 | c.129 others(4): Show |
p.Ala others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 12/21 | 1471/4872 | 1296/2685 | 432/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236744741 | C | T | synonymous_variant | LOW | HG03453.hp1 | a0001 | a0001c0028 | a0001c0028t0026 | a0001c0028t0026g0107 | 1 | 342 | 0.0029 | 0 | c.137 others(4): Show |
p.Arg others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 12/21 | 1546/4872 | 1371/2685 | 457/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236744753 | C | T | synonymous_variant | LOW | HG01516.hp1 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0315 | 1 | 342 | 0.0029 | 0 | c.138 others(4): Show |
p.Ile others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 12/21 | 1558/4872 | 1383/2685 | 461/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236751607 | G | A | synonymous_variant | LOW | HG02129.hp1 | a0002 | a0002c0019 | a0002c0019t0004 | a0002c0019t0004g0003 | 1 | 342 | 0.0029 | 0 | c.179 others(4): Show |
p.Pro others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 15/21 | 1969/4872 | 1794/2685 | 598/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236754039 | C | A | synonymous_variant | LOW | HG02970.hp1 | a0001 | a0001c0029 | a0001c0029t0005 | a0001c0029t0005g0108 | 1 | 342 | 0.0029 | 0 | c.193 others(4): Show |
p.Ala others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 16/21 | 2107/4872 | 1932/2685 | 644/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236755120 | C | T | synonymous_variant | LOW | HG03098.hp1 | a0005 | a0005c0017 | a0005c0017t0024 | a0005c0017t0024g0100 | 1 | 342 | 0.0029 | 0 | c.207 others(4): Show |
p.Ile others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/21 | 2251/4872 | 2076/2685 | 692/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236755183 | G | A | synonymous_variant | LOW | HG01243.hp2 HG02451.hp2 HG02717.hp1 others(14): Show |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0005 | a0001c0004t0002g0063 a0001c0004t0002g0066 a0001c0004t0002g0238 others(14): Show |
17 | 342 | 0.0497 | 0 | c.213 others(4): Show |
p.Thr others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/21 | 2314/4872 | 2139/2685 | 713/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236755192 | G | A | synonymous_variant | LOW | NA19060.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0254 | 1 | 342 | 0.0029 | 0 | c.214 others(4): Show |
p.Thr others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/21 | 2323/4872 | 2148/2685 | 716/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236757542 | G | A | synonymous_variant | LOW | NA18967.hp1 | a0001 | a0001c0024 | a0001c0024t0003 | a0001c0024t0003g0015 | 1 | 342 | 0.0029 | 0 | c.221 others(4): Show |
p.Glu others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 18/21 | 2386/4872 | 2211/2685 | 737/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236757566 | A | G | synonymous_variant | LOW | HG03490.hp2 | a0001 | a0001c0025 | a0001c0025t0006 | a0001c0025t0006g0122 | 1 | 342 | 0.0029 | 0 | c.223 others(4): Show |
p.Arg others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 18/21 | 2410/4872 | 2235/2685 | 745/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236762544 | G | A | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(76): Show |
a0001a0002a0004 | a0001c0002a0001c0006a0001c0010others(4): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0013others(8): Show | a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0072 others(76): Show |
79 | 342 | 0.2310 | 0 | c.261 others(4): Show |
p.Ser others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 21/21 | 2785/4872 | 2610/2685 | 870/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236762592 | C | T | synonymous_variant | LOW | HG01978.hp2 | a0001 | a0001c0018 | a0001c0018t0006 | a0001c0018t0006g0124 | 1 | 342 | 0.0029 | 0 | c.265 others(4): Show |
p.Ser others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 21/21 | 2833/4872 | 2658/2685 | 886/894 | chr1 | TogoVar | |||
ACTN3_chr11_66541903_66568334 | 66551266 | C | T | synonymous_variant | LOW | NA18967.hp2 | a0002 | a0002c0030 | a0002c0030t0001 | a0002c0030t0001g0156 | 1 | 398 | 0.0025 | 0 | c.175 others(3): Show |
p.Leu others(5): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 2/21 | 210/2882 | 175/2706 | 59/901 | chr11 | TogoVar | |||
ACTN3_chr11_66541903_66568334 | 66551277 | A | T | synonymous_variant | LOW | NA18967.hp2 | a0002 | a0002c0030 | a0002c0030t0001 | a0002c0030t0001g0156 | 1 | 398 | 0.0025 | 0 | c.186 others(3): Show |
p.Ala others(5): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 2/21 | 221/2882 | 186/2706 | 62/901 | chr11 | TogoVar | |||
ACTN3_chr11_66541903_66568334 | 66557911 | C | T | synonymous_variant | LOW | HG01192.hp1 NA18969.hp1 NA19005.hp1 |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0041 a0002c0008t0001g0100 |
3 | 398 | 0.0075 | 0 | c.111 others(4): Show |
p.Ser others(6): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 10/21 | 1145/2882 | 1110/2706 | 370/901 | chr11 | TogoVar | |||
ACTN3_chr11_66541903_66568334 | 66558092 | G | A | synonymous_variant | LOW | HG02622.hp1 HG03471.hp2 HG03579.hp1 |
a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0170 a0003c0007t0001g0171 a0003c0007t0001g0172 |
3 | 398 | 0.0075 | 0 | c.119 others(4): Show |
p.Ser others(6): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 11/21 | 1229/2882 | 1194/2706 | 398/901 | chr11 | TogoVar | |||
ACTN3_chr11_66541903_66568334 | 66559369 | G | A | synonymous_variant | LOW | HG02615.hp1 HG02647.hp2 |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0165 a0009c0009t0001g0166 |
2 | 398 | 0.0050 | 0 | c.141 others(4): Show |
p.Ala others(6): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 12/21 | 1445/2882 | 1410/2706 | 470/901 | chr11 | TogoVar | |||
ACTN3_chr11_66541903_66568334 | 66560584 | A | G | synonymous_variant | LOW | HG00323.hp1 HG00408.hp1 HG00558.hp1 others(71): Show |
a0003a0005a0007others(5): Show | a0003c0003a0003c0004a0005c0006others(6): Show | a0003c0003t0001a0003c0003t0002a0003c0004t0001others(7): Show | a0003c0003t0001g0038 a0003c0003t0002g0002 a0003c0003t0002g0015 others(29): Show |
74 | 398 | 0.1859 | 0 | c.168 others(4): Show |
p.Thr others(6): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/21 | 1724/2882 | 1689/2706 | 563/901 | chr11 | TogoVar | |||
ACTN3_chr11_66541903_66568334 | 66560728 | G | A | synonymous_variant | LOW | HG02615.hp1 HG02647.hp2 |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0165 a0009c0009t0001g0166 |
2 | 398 | 0.0050 | 0 | c.183 others(4): Show |
p.Pro others(6): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/21 | 1868/2882 | 1833/2706 | 611/901 | chr11 | TogoVar | |||
ACTN3_chr11_66541903_66568334 | 66562168 | G | A | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG00735.hp1 HG01255.hp1 others(18): Show |
a0003a0017 | a0003c0004a0017c0020 | a0003c0004t0001a0017c0020t0001 | a0003c0004t0001g0006 a0003c0004t0001g0016 a0003c0004t0001g0056 others(5): Show |
21 | 398 | 0.0528 | 0 | c.232 others(4): Show |
p.Arg others(6): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 18/21 | 2357/2882 | 2322/2706 | 774/901 | chr11 | TogoVar | |||
ACTN3_chr11_66541903_66568334 | 66563151 | C | T | synonymous_variant | LOW | NA18612.hp2 NA18944.hp1 |
a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0001 a0002c0011t0001g0012 |
2 | 398 | 0.0050 | 0 | c.266 others(4): Show |
p.Tyr others(6): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 21/21 | 2699/2882 | 2664/2706 | 888/901 | chr11 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38700683 | C | T | synonymous_variant | LOW | HG00140.hp2 HG00280.hp1 HG01069.hp2 others(7): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0007a0001c0005t0015others(1): Show | a0001c0005t0001g0249 a0001c0005t0007g0002 a0001c0005t0007g0003 others(5): Show |
10 | 312 | 0.0321 | 0 | c.246 others(3): Show |
p.Leu others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 2/21 | 343/4990 | 246/2736 | 82/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38701021 | G | A | synonymous_variant | LOW | HG01891.hp2 | a0001 | a0001c0011 | a0001c0011t0010 | a0001c0011t0010g0294 | 1 | 312 | 0.0032 | 0 | c.297 others(3): Show |
p.Pro others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 3/21 | 394/4990 | 297/2736 | 99/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38706096 | G | A | synonymous_variant | LOW | HG00323.hp1 HG00639.hp2 HG00735.hp1 others(22): Show |
a0001 | a0001c0003a0001c0012a0001c0013others(1): Show | a0001c0003t0004a0001c0003t0008a0001c0003t0045others(3): Show | a0001c0003t0004g0088 a0001c0003t0004g0089 a0001c0003t0004g0090 others(22): Show |
25 | 312 | 0.0801 | 0 | c.537 others(3): Show |
p.Pro others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 5/21 | 634/4990 | 537/2736 | 179/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38706105 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(99): Show |
a0001a0004a0005 | a0001c0002a0001c0007a0001c0010others(4): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(15): Show | a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 others(98): Show |
102 | 312 | 0.3269 | 0 | c.546 others(3): Show |
p.Asn others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 5/21 | 643/4990 | 546/2736 | 182/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38717151 | G | A | synonymous_variant | LOW | HG02004.hp2 HG02293.hp1 NA18966.hp2 |
a0001 | a0001c0006 | a0001c0006t0005a0001c0006t0026a0001c0006t0028 | a0001c0006t0005g0236 a0001c0006t0026g0237 a0001c0006t0028g0238 |
3 | 312 | 0.0096 | 0 | c.978 others(3): Show |
p.Gln others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 10/21 | 1075/4990 | 978/2736 | 326/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38718001 | C | A | synonymous_variant | LOW | NA18522.hp1 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0190 | 1 | 312 | 0.0032 | 0 | c.121 others(4): Show |
p.Arg others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 11/21 | 1315/4990 | 1218/2736 | 406/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38723996 | G | A | synonymous_variant | LOW | HG02647.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001a0005 | a0001c0007a0005c0018 | a0001c0007t0001a0005c0018t0001 | a0001c0007t0001g0200 a0001c0007t0001g0202 a0001c0007t0001g0204 others(1): Show |
4 | 312 | 0.0128 | 0 | c.161 others(4): Show |
p.Ala others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 14/21 | 1708/4990 | 1611/2736 | 537/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38724234 | C | T | synonymous_variant | LOW | HG02559.hp2 HG03471.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0121 a0001c0010t0001g0295 |
2 | 312 | 0.0064 | 0 | c.177 others(4): Show |
p.Ile others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 15/21 | 1867/4990 | 1770/2736 | 590/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38724312 | G | T | synonymous_variant | LOW | HG03942.hp2 | a0001 | a0001c0014 | a0001c0014t0004 | a0001c0014t0004g0193 | 1 | 312 | 0.0032 | 0 | c.184 others(4): Show |
p.Pro others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 15/21 | 1945/4990 | 1848/2736 | 616/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38724457 | C | T | synonymous_variant | LOW | NA20805.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0239 | 1 | 312 | 0.0032 | 0 | c.190 others(4): Show |
p.Asp others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 16/21 | 1999/4990 | 1902/2736 | 634/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38724532 | T | C | synonymous_variant | LOW | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(21): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0004t0005a0001c0004t0029others(3): Show | a0001c0004t0001g0229 a0001c0004t0001g0234 a0001c0004t0001g0235 others(21): Show |
24 | 312 | 0.0769 | 0 | c.197 others(4): Show |
p.Asn others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 16/21 | 2074/4990 | 1977/2736 | 659/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38725864 | C | G | synonymous_variant | LOW | NA19079.hp2 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0140 | 1 | 312 | 0.0032 | 0 | c.215 others(4): Show |
p.Ala others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 17/21 | 2248/4990 | 2151/2736 | 717/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38727082 | G | A | synonymous_variant | LOW | HG02976.hp2 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0187 | 1 | 312 | 0.0032 | 0 | c.231 others(4): Show |
p.Ala others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 18/21 | 2413/4990 | 2316/2736 | 772/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38728008 | C | T | synonymous_variant | LOW | NA19002.hp1 | a0001 | a0001c0016 | a0001c0016t0033 | a0001c0016t0033g0165 | 1 | 312 | 0.0032 | 0 | c.240 others(4): Show |
p.Asp others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/21 | 2497/4990 | 2400/2736 | 800/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38729140 | T | C | synonymous_variant | LOW | HG00280.hp2 HG00323.hp1 HG00639.hp2 others(46): Show |
a0001 | a0001c0003a0001c0004a0001c0006others(3): Show | a0001c0003t0004a0001c0003t0008a0001c0003t0045others(9): Show | a0001c0003t0004g0088 a0001c0003t0004g0089 a0001c0003t0004g0090 others(46): Show |
49 | 312 | 0.1571 | 0 | c.256 others(4): Show |
p.Leu others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 20/21 | 2660/4990 | 2563/2736 | 855/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38729384 | C | T | synonymous_variant | LOW | HG04228.hp1 | a0001 | a0001c0015 | a0001c0015t0003 | a0001c0015t0003g0247 | 1 | 312 | 0.0032 | 0 | c.268 others(4): Show |
p.Leu others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 21/21 | 2785/4990 | 2688/2736 | 896/911 | chr19 | TogoVar | |||
ACTR10_chr14_58195149_58240636 | 58211339 | G | A | synonymous_variant | LOW | HG03017.hp2 HG04199.hp1 NA18612.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0037 a0001c0002t0002g0196 a0001c0002t0002g0225 others(4): Show |
7 | 320 | 0.0219 | 0 | c.390 others(3): Show |
p.Thr others(6): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 5/13 | 459/2408 | 390/1254 | 130/417 | chr14 | TogoVar | |||
ACTR1B_chr2_97650939_97669044 | 97658064 | G | C | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(217): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0007a0001c0010others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(11): Show | a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0013 others(31): Show |
220 | 396 | 0.5556 | 0 | c.804 others(3): Show |
p.Val others(6): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 8/11 | 958/2204 | 804/1131 | 268/376 | chr2 | TogoVar |