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 | 236721015 | G | GGTT | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02630.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0030 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0004g0245 others(6): Show |
9 | 140 | 0.0643 | 3 | c.448 others(18): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236722634 | C | CAAA | intron_variant | MODIFIER | HG02080.hp1 HG02080.hp2 HG02132.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0021others(3): Show | a0001c0001t0004a0001c0001t0025a0001c0002t0007others(4): Show | a0001c0001t0004g0202 a0001c0001t0004g0225 a0001c0001t0004g0298 others(8): Show |
11 | 17 | 0.6471 | 3 | c.448 others(20): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236732437 | T | TTTA | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01123.hp1 others(19): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0003t0001others(7): Show | a0001c0001t0001g0111 a0001c0001t0012g0020 a0001c0001t0012g0110 others(18): Show |
22 | 342 | 0.0643 | 3 | c.697 others(20): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 7/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236755628 | G | GGTT | intron_variant | MODIFIER | NA18949.hp2 NA18967.hp1 NA19005.hp2 |
a0001 | a0001c0001a0001c0024 | a0001c0001t0003a0001c0024t0003 | a0001c0001t0003g0209 a0001c0001t0003g0232 a0001c0024t0003g0015 |
3 | 342 | 0.0088 | 3 | c.215 others(20): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | chr1 | TogoVar | |||||||
ACTN3_chr11_66541903_66568334 | 66561023 | G | GTTA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(244): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0030a0003c0003others(16): Show | a0001c0001t0001a0001c0001t0004a0002c0030t0001others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(122): Show |
247 | 398 | 0.6206 | 3 | c.186 others(20): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38662376 | C | CTGA | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0002a0001c0010a0001c0011 | a0001c0002t0010a0001c0002t0027a0001c0010t0001others(1): Show | a0001c0002t0010g0005 a0001c0002t0010g0304 a0001c0002t0027g0303 others(2): Show |
6 | 309 | 0.0194 | 3 | c.162 others(22): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38680212 | G | GTTT | intron_variant | MODIFIER | HG01952.hp2 HG02523.hp1 HG03516.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0025 | a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0148 others(4): Show |
7 | 75 | 0.0933 | 3 | c.163 others(22): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38688390 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(62): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0014others(10): Show | a0001c0001t0002g0138 a0001c0001t0013g0305 a0001c0001t0013g0306 others(62): Show |
65 | 167 | 0.3892 | 3 | c.163 others(22): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38728410 | G | GCTC | intron_variant | MODIFIER | HG01975.hp1 HG02602.hp2 HG02647.hp1 others(6): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0008a0001c0004t0005others(3): Show | a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0003t0008g0183 others(6): Show |
9 | 187 | 0.0481 | 3 | c.241 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735770 | G | GTTC | downstream_gene_variant | MODIFIER | HG02300.hp1 HG02602.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0003a0001c0014 | a0001c0003t0004a0001c0003t0008a0001c0014t0004 | a0001c0003t0004g0090 a0001c0003t0004g0178 a0001c0003t0008g0183 others(1): Show |
4 | 312 | 0.0128 | 3 | c.*63 others(14): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4182 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38736005 | G | GGGT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01168.hp1 HG02486.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0008 | a0001c0003t0004a0001c0003t0008a0002c0008t0011 | a0001c0003t0004g0179 a0001c0003t0004g0180 a0001c0003t0008g0181 others(3): Show |
6 | 310 | 0.0194 | 3 | c.*65 others(14): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4417 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38736010 | G | GGGT | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02155.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0014a0001c0001t0021others(2): Show | a0001c0001t0013g0305 a0001c0001t0013g0306 a0001c0001t0014g0291 others(3): Show |
6 | 312 | 0.0192 | 3 | c.*65 others(14): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4422 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38736012 | C | CGGG | downstream_gene_variant | MODIFIER | HG01261.hp1 HG01515.hp2 HG01517.hp2 others(7): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0001a0001c0004t0001a0001c0004t0005others(3): Show | a0001c0002t0001g0028 a0001c0004t0001g0229 a0001c0004t0005g0225 others(7): Show |
10 | 298 | 0.0336 | 3 | c.*65 others(14): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4424 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38736026 | G | GTCA | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014a0001c0001t0021others(1): Show | a0001c0001t0013g0305 a0001c0001t0013g0306 a0001c0001t0014g0291 others(2): Show |
5 | 301 | 0.0166 | 3 | c.*65 others(14): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4438 | chr19 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58197889 | T | TAAA | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01099.hp1 HG01255.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0034 a0001c0001t0002g0209 a0001c0001t0002g0211 others(14): Show |
17 | 138 | 0.1232 | 3 | c.-23 others(14): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 2259 | chr14 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58220363 | A | ATGT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(169): Show |
207 | 320 | 0.6469 | 3 | c.634 others(18): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58228681 | C | CTTT | intron_variant | MODIFIER | HG00741.hp1 HG01952.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0193 a0001c0001t0002g0237 a0001c0001t0004g0198 others(2): Show |
6 | 59 | 0.1017 | 3 | c.789 others(20): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58232404 | C | CTTT | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01123.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0025 a0001c0001t0003g0143 others(5): Show |
9 | 120 | 0.0750 | 3 | c.107 others(20): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58234928 | T | TCTC | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(98): Show |
119 | 320 | 0.3719 | 3 | c.*37 others(12): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 13/13 | 380 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ACTR1A_chr10_102474229_102507712 | 102476042 | G | GTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG00673.hp2 others(82): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0032 others(63): Show |
85 | 293 | 0.2901 | 3 | c.*48 others(14): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 3186 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102478338 | C | CAAA | downstream_gene_variant | MODIFIER | HG01516.hp2 HG01952.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0007 a0001c0001t0001g0063 a0001c0001t0001g0064 others(3): Show |
6 | 110 | 0.0545 | 3 | c.*25 others(14): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 890 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102491932 | A | ATTT | intron_variant | MODIFIER | HG01123.hp2 HG01358.hp1 HG01928.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0159 a0001c0001t0003g0209 a0001c0001t0003g0212 others(3): Show |
6 | 270 | 0.0222 | 3 | c.49- others(18): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102492069 | C | CTTT | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp1 HG01109.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0190 others(20): Show |
28 | 31 | 0.9032 | 3 | c.49- others(18): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102497929 | C | CAAA | intron_variant | MODIFIER | HG01175.hp1 HG01346.hp1 HG02027.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 others(3): Show |
6 | 231 | 0.0260 | 3 | c.48+ others(18): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65227183 | G | GGAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp2 others(78): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0029 others(62): Show |
81 | 324 | 0.2500 | 3 | c.-72 others(12): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 647 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65267862 | C | CTTT | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01517.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0032 others(6): Show |
14 | 32 | 0.4375 | 3 | c.101 others(20): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152765127 | T | TTTC | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01169.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0184 a0001c0001t0001g0220 a0001c0001t0001g0221 others(12): Show |
15 | 207 | 0.0725 | 3 | c.44+ others(18): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152789023 | A | AAAC | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01099.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0258 a0001c0001t0002g0008 a0001c0001t0002g0009 others(11): Show |
14 | 186 | 0.0753 | 3 | c.100 others(20): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152789064 | A | AAAC | intron_variant | MODIFIER | HG02630.hp2 HG03490.hp1 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0300 a0001c0001t0002g0002 a0001c0001t0002g0159 others(2): Show |
6 | 95 | 0.0632 | 3 | c.100 others(20): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152789997 | C | CTTT | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02300.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0006a0002c0006t0001 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0223 others(14): Show |
17 | 188 | 0.0904 | 3 | c.100 others(20): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152848085 | G | GAAT | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0223 others(1): Show |
4 | 308 | 0.0130 | 3 | c.952 others(20): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150276255 | C | CTCT | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02895.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0122 others(1): Show |
4 | 292 | 0.0137 | 3 | c.564 others(20): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150287360 | A | ATGC | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00741.hp1 others(43): Show |
a0002a0005 | a0002c0002a0002c0003a0005c0006 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(3): Show | a0002c0002t0001g0009 a0002c0002t0001g0033 a0002c0002t0001g0036 others(43): Show |
46 | 292 | 0.1575 | 3 | c.298 others(18): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150327819 | C | CAAA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(39): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0042 others(37): Show |
42 | 49 | 0.8571 | 3 | c.-44 others(14): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 4275 | chr7 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113886929 | G | GCAT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0017others(5): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(45): Show |
51 | 388 | 0.1314 | 3 | c.-33 others(14): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 3159 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113889095 | T | TTGG | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0024 | a0001c0001t0007g0207 a0001c0001t0007g0342 a0001c0001t0007g0345 others(6): Show |
9 | 162 | 0.0556 | 3 | c.-11 others(14): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 993 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113895493 | A | ACCC | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02258.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0024 | a0001c0001t0007g0207 a0001c0001t0007g0208 a0001c0001t0007g0209 others(14): Show |
17 | 388 | 0.0438 | 3 | c.44+ others(18): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113905849 | T | TTAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(72): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0014a0001c0001t0019others(6): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0016 others(66): Show |
75 | 388 | 0.1933 | 3 | c.45- others(18): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113911419 | C | CTTT | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00639.hp2 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0031others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 others(72): Show |
78 | 183 | 0.4262 | 3 | c.45- others(18): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113923350 | G | GTTT | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0031 a0001c0001t0015g0031 a0001c0001t0015g0336 others(2): Show |
5 | 105 | 0.0476 | 3 | c.226 others(20): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113933677 | A | ATTT | intron_variant | MODIFIER | HG03453.hp2 NA18943.hp2 NA18979.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034a0001c0001t0035 | a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 others(3): Show |
6 | 214 | 0.0280 | 3 | c.433 others(18): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113936302 | C | CAAA | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02258.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0013others(1): Show | a0001c0001t0004g0201 a0001c0001t0007g0207 a0001c0001t0007g0212 others(10): Show |
13 | 122 | 0.1066 | 3 | c.540 others(20): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113944584 | T | TAAA | intron_variant | MODIFIER | HG01106.hp1 HG01433.hp2 HG01952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0173 others(3): Show |
6 | 130 | 0.0462 | 3 | c.858 others(20): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR6_chr12_100195815_100229424 | 100198805 | A | ACAC | upstream_gene_variant | MODIFIER | HG02258.hp2 HG03209.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0001 a0002c0005t0001g0073 |
2 | 239 | 0.0084 | 3 | c.-20 others(14): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 2009 | chr12 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100203645 | C | CTTT | intron_variant | MODIFIER | HG01109.hp2 HG02015.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(2): Show |
5 | 201 | 0.0249 | 3 | c.69- others(18): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTR6_chr12_100195815_100229424 | 100206834 | C | CTTT | intron_variant | MODIFIER | HG00544.hp1 HG02056.hp2 NA18942.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0145 a0001c0003t0002g0037 a0001c0003t0002g0040 others(4): Show |
7 | 197 | 0.0355 | 3 | c.256 others(18): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTRT2_chr1_3016467_3027903 | 3016491 | G | GGGT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG02922.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0000 a0004c0005t0001g0000 |
7 | 277 | 0.0253 | 3 | c.-51 others(14): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4975 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3027626 | C | CGGG | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01928.hp1 HG01943.hp1 others(27): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0003c0003t0001others(3): Show | a0001c0001t0001g0000 a0001c0001t0004g0000 a0003c0003t0001g0000 others(3): Show |
30 | 114 | 0.2632 | 3 | c.*48 others(14): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4724 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3027628 | G | GGGC | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01884.hp1 HG02015.hp1 others(31): Show |
a0001 | a0001c0004a0001c0012a0001c0014 | a0001c0004t0001a0001c0004t0002a0001c0012t0002others(1): Show | a0001c0004t0001g0000 a0001c0004t0002g0000 a0001c0012t0002g0000 others(1): Show |
34 | 364 | 0.0934 | 3 | c.*48 others(14): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4726 | chr1 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771333 | T | TATA | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG01243.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0043 a0003c0003t0001g0009 |
9 | 415 | 0.0217 | 3 | c.-18 others(14): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1773 | chr3 | TogoVar |