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 | 236709218 | C | CTGTG | intron_variant | MODIFIER | HG01261.hp1 HG02486.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0143 a0001c0001t0002g0154 a0001c0001t0003g0136 others(4): Show |
7 | 326 | 0.0215 | 4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236709220 | G | GTATA | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG01071.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0243 others(10): Show |
13 | 204 | 0.0637 | 4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236709251 | T | TACAC | intron_variant | MODIFIER | HG02129.hp2 HG03239.hp2 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0007 a0001c0001t0001g0316 a0001c0001t0019g0249 others(1): Show |
4 | 334 | 0.0120 | 4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236709253 | T | TACAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(37): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0157 a0001c0001t0001g0269 a0001c0001t0001g0278 others(37): Show |
40 | 296 | 0.1351 | 4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236709344 | G | GTATA | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02055.hp2 others(15): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0003t0002others(8): Show | a0001c0001t0003g0236 a0001c0001t0004g0060 a0001c0003t0002g0168 others(15): Show |
18 | 286 | 0.0629 | 4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236716835 | A | ATTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(186): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(185): Show |
189 | 194 | 0.9742 | 4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236721015 | G | GGTTT | intron_variant | MODIFIER | HG00438.hp1 HG03471.hp2 NA18969.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0152 a0001c0001t0003g0268 a0001c0001t0003g0325 others(1): Show |
4 | 135 | 0.0296 | 4 | c.448 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236721022 | G | GTTTT | intron_variant | MODIFIER | HG00609.hp1 HG02015.hp2 HG02647.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0137 a0001c0001t0001g0139 others(13): Show |
16 | 59 | 0.2712 | 4 | c.448 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236737297 | G | GTATA | intron_variant | MODIFIER | HG00673.hp2 NA18941.hp2 NA18998.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0042 a0001c0001t0001g0139 a0001c0001t0001g0142 others(2): Show |
5 | 199 | 0.0251 | 4 | c.876 others(17): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236761432 | C | CGTGT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(93): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(18): Show | a0001c0001t0002g0154 a0001c0001t0004g0076 a0001c0001t0004g0198 others(93): Show |
96 | 168 | 0.5714 | 4 | c.252 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38650737 | G | GTTGT | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
a0001a0005 | a0001c0002a0001c0007a0005c0018 | a0001c0002t0037a0001c0007t0001a0005c0018t0001 | a0001c0002t0037g0203 a0001c0007t0001g0200 a0001c0007t0001g0202 others(2): Show |
5 | 311 | 0.0161 | 4 | c.162 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38679568 | C | CGTGT | intron_variant | MODIFIER | HG01358.hp1 HG02559.hp2 NA18959.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0001 | a0001c0002t0001g0038 a0001c0002t0001g0043 a0001c0010t0001g0295 |
3 | 101 | 0.0297 | 4 | c.163 others(23): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38688390 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0011a0001c0001t0021a0001c0001t0022others(6): Show | a0001c0001t0011g0286 a0001c0001t0021g0004 a0001c0001t0022g0004 others(22): Show |
27 | 129 | 0.2093 | 4 | c.163 others(23): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735888 | G | GGGGC | downstream_gene_variant | MODIFIER | HG04115.hp1 NA18981.hp1 NA19030.hp2 |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0029 | a0001c0004t0005g0224 a0001c0004t0005g0231 a0001c0004t0029g0223 |
3 | 300 | 0.0100 | 4 | c.*64 others(15): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4300 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735926 | G | GGTTC | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001a0005 | a0001c0007a0005c0018 | a0001c0007t0001a0005c0018t0001 | a0001c0007t0001g0200 a0001c0007t0001g0202 a0001c0007t0001g0204 others(1): Show |
4 | 312 | 0.0128 | 4 | c.*64 others(15): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4338 | chr19 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58207313 | A | ATTTG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00738.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0016others(1): Show | a0001c0001t0003g0001 a0001c0001t0003g0021 a0001c0001t0003g0023 others(42): Show |
58 | 318 | 0.1824 | 4 | c.151 others(19): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR1A_chr10_102474229_102507712 | 102476042 | G | GTTTT | downstream_gene_variant | MODIFIER | HG01952.hp2 HG02148.hp1 HG02738.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019 a0001c0001t0003g0005 a0001c0001t0003g0013 others(4): Show |
8 | 216 | 0.0370 | 4 | c.*48 others(15): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 3186 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102494655 | C | CCAAA | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01891.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0194 a0001c0001t0004g0022 a0001c0001t0004g0023 others(11): Show |
17 | 289 | 0.0588 | 4 | c.49- others(19): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102500600 | C | CAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0042 others(35): Show |
47 | 301 | 0.1561 | 4 | c.48+ others(19): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65223004 | C | CTCTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(267): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(222): Show |
270 | 324 | 0.8333 | 4 | c.-49 others(15): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 4826 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65225849 | A | ATTTT | upstream_gene_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0019 | a0001c0001t0010g0036 a0001c0001t0010g0228 a0001c0001t0010g0229 others(2): Show |
6 | 207 | 0.0290 | 4 | c.-20 others(15): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1981 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65236481 | C | CTTAT | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0244 a0001c0001t0002g0245 |
4 | 324 | 0.0123 | 4 | c.49- others(19): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65245999 | A | ATAAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(251): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(203): Show |
254 | 324 | 0.7840 | 4 | c.160 others(19): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65267862 | C | CTTTT | intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 HG03041.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0234 others(5): Show |
8 | 26 | 0.3077 | 4 | c.101 others(21): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152760457 | C | CACCT | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG02083.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(2): Show |
5 | 307 | 0.0163 | 4 | c.44+ others(17): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152765127 | T | TTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(94): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0185 others(92): Show |
97 | 289 | 0.3356 | 4 | c.44+ others(19): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152789041 | C | CAATA | intron_variant | MODIFIER | HG01952.hp1 HG02145.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0296 others(4): Show |
7 | 308 | 0.0227 | 4 | c.100 others(21): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152789049 | A | AACAG | intron_variant | MODIFIER | HG00597.hp2 HG01884.hp1 HG02027.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0205 others(15): Show |
18 | 308 | 0.0584 | 4 | c.100 others(21): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ACTR3B_chr7_152754752_152860378 | 152812019 | C | CTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0005 a0001c0001t0001g0249 a0001c0001t0001g0289 others(3): Show |
7 | 24 | 0.2917 | 4 | c.337 others(21): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152829044 | G | GTGTA | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG02083.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(2): Show |
5 | 304 | 0.0164 | 4 | c.951 others(21): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150259271 | G | GGAAA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(46): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0045 a0001c0001t0001g0150 a0001c0001t0001g0194 others(45): Show |
49 | 287 | 0.1707 | 4 | c.565 others(23): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150259273 | A | AAAAG | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0002g0265 a0002c0002t0001g0267 others(2): Show |
6 | 236 | 0.0254 | 4 | c.565 others(23): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150261701 | C | CAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02717.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0005g0186 others(7): Show |
10 | 290 | 0.0345 | 4 | c.565 others(23): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150273282 | C | CCTGA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(84): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0121 a0001c0001t0002g0085 a0001c0001t0002g0200 others(80): Show |
87 | 292 | 0.2979 | 4 | c.564 others(23): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150280798 | A | ATGTG | intron_variant | MODIFIER | HG02622.hp1 NA18970.hp2 NA18977.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0002g0053 others(1): Show |
4 | 215 | 0.0186 | 4 | c.564 others(21): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150280829 | T | TATAC | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(41): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0121 a0001c0001t0002g0200 a0002c0002t0001g0001 others(37): Show |
44 | 240 | 0.1833 | 4 | c.564 others(21): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150317072 | C | CATTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(122): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0019 others(120): Show |
125 | 291 | 0.4296 | 4 | c.-52 others(21): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113890072 | A | ACTGC | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG00741.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 a0001c0001t0006g0220 a0001c0001t0006g0221 others(1): Show |
6 | 388 | 0.0155 | 4 | c.-20 others(13): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 16 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113911419 | C | CTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02148.hp1 NA18939.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 others(3): Show |
6 | 111 | 0.0541 | 4 | c.45- others(19): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113924887 | C | CTATT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(37): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0014others(5): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0016 others(31): Show |
40 | 252 | 0.1587 | 4 | c.226 others(21): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113933677 | A | ATTTT | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02280.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0013others(1): Show | a0001c0001t0006g0216 a0001c0001t0006g0218 a0001c0001t0006g0219 others(16): Show |
19 | 227 | 0.0837 | 4 | c.433 others(19): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113936302 | C | CAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0013a0001c0002t0010 | a0001c0001t0010g0022 a0001c0001t0010g0192 a0001c0001t0010g0193 others(3): Show |
6 | 115 | 0.0522 | 4 | c.540 others(21): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113953687 | T | TACAC | intron_variant | MODIFIER | NA18995.hp1 NA19055.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0283 a0001c0001t0017g0284 a0001c0001t0017g0306 |
3 | 333 | 0.0090 | 4 | c.107 others(23): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113964074 | G | GTTGA | downstream_gene_variant | MODIFIER | HG01943.hp1 HG02148.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0273 |
3 | 388 | 0.0077 | 4 | c.*66 others(15): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1479 | chr2 | TogoVar | |||||||
ACTR5_chr20_38743460_38777520 | 38745491 | A | AAAAG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(221): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
224 | 356 | 0.6292 | 4 | c.-29 others(15): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 2968 | chr20 | TogoVar | |||||||
ACTR5_chr20_38743460_38777520 | 38776911 | T | TTGTG | downstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 NA18954.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003a0002c0003t0005 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0071 others(2): Show |
5 | 299 | 0.0167 | 4 | c.*50 others(15): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 4392 | chr20 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100198756 | T | TACAC | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01255.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(7): Show |
15 | 90 | 0.1667 | 4 | c.-20 others(15): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 2058 | chr12 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100198806 | A | AAAAC | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02055.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0036 others(7): Show |
14 | 234 | 0.0598 | 4 | c.-20 others(15): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 2008 | chr12 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100200509 | G | GACAC | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01109.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(25): Show |
40 | 130 | 0.3077 | 4 | c.-34 others(13): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 305 | chr12 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100202823 | C | CTCCA | intron_variant | MODIFIER | HG01884.hp2 HG02015.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0135 a0001c0001t0001g0136 others(5): Show |
11 | 240 | 0.0458 | 4 | c.68+ others(19): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |