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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM6_chr10_95189238_95233929 | 95208933 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(18): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0006 a0002c0002t0001g0038 a0002c0002t0001g0041 others(13): Show |
21 | 31 | 0.6774 | 5 | c.611 others(22): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM6_chr10_95189238_95233929 | 95232031 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01192.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0013 a0002c0002t0001g0005 a0002c0002t0001g0038 others(7): Show |
12 | 207 | 0.0580 | 5 | c.*32 others(16): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 3103 | chr10 | TogoVar | |||||||
ACSS1_chr20_25001237_25063139 | 25053060 | C | CTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02647.hp1 HG02970.hp2 others(2): Show |
a0003a0004a0005others(1): Show | a0003c0006a0004c0008a0005c0016others(2): Show | a0003c0006t0001a0004c0008t0001a0005c0016t0001others(2): Show | a0003c0006t0001g0211 a0004c0008t0001g0024 a0005c0016t0001g0022 others(2): Show |
5 | 192 | 0.0260 | 5 | c.334 others(22): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 1/13 | chr20 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81073680 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG01168.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(7): Show | a0001c0001t0001g0062 a0001c0001t0001g0242 a0001c0001t0003g0252 others(18): Show |
21 | 203 | 0.1034 | 5 | c.-44 others(16): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4398 | chr12 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81181747 | C | CAAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 NA18949.hp2 others(4): Show |
a0002 | a0002c0003a0002c0004a0002c0009 | a0002c0003t0005a0002c0004t0003a0002c0009t0002 | a0002c0003t0005g0153 a0002c0003t0005g0155 a0002c0003t0005g0273 others(4): Show |
7 | 82 | 0.0854 | 5 | c.125 others(24): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213558 | C | CCTCCT | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02486.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0014 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(3): Show | a0001c0001t0001g0074 a0001c0001t0001g0205 a0001c0001t0003g0200 others(5): Show |
8 | 281 | 0.0285 | 5 | c.135 others(24): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213793 | T | TTTCTC | intron_variant | MODIFIER | HG01257.hp2 HG01884.hp1 HG02074.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 others(15): Show |
18 | 201 | 0.0896 | 5 | c.135 others(24): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213851 | C | CTCTCT | intron_variant | MODIFIER | HG01109.hp2 HG01952.hp1 HG02074.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0020a0001c0002t0002others(4): Show | a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0020g0061 others(15): Show |
18 | 162 | 0.1111 | 5 | c.135 others(24): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213935 | T | TTCTTC | intron_variant | MODIFIER | HG01346.hp1 HG02145.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0063 a0001c0001t0001g0253 |
3 | 285 | 0.0105 | 5 | c.135 others(24): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81247063 | T | TATAAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(152): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(26): Show | a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0099 others(152): Show |
155 | 288 | 0.5382 | 5 | c.172 others(24): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73910671 | G | GTCTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(208): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(194): Show |
211 | 414 | 0.5097 | 5 | c.451 others(22): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73913170 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(190): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(176): Show |
193 | 373 | 0.5174 | 5 | c.452 others(20): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73923641 | C | CAAGAA | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 others(88): Show |
92 | 188 | 0.4894 | 5 | c.*40 others(16): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3777 | chr2 | TogoVar | |||||||
ACTL7A_chr9_108857266_108868756 | 108866757 | A | AGTTTT | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01109.hp2 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0000 a0001c0010t0001g0000 a0002c0002t0001g0000 others(1): Show |
49 | 480 | 0.1021 | 5 | c.*31 others(16): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 3002 | chr9 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40755257 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01175.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0010a0001c0004t0012others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0098 a0001c0003t0010g0013 others(3): Show |
8 | 241 | 0.0332 | 5 | c.-54 others(16): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4781 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68890631 | A | AGGGCC | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0218 a0001c0001t0002g0119 a0001c0001t0002g0120 |
3 | 282 | 0.0106 | 5 | c.108 others(22): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 10/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68979141 | A | AGGGCT | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(124): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0004others(8): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0006 others(122): Show |
127 | 282 | 0.4504 | 5 | c.-90 others(12): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/22 | 86 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68980268 | A | AAGTCC | upstream_gene_variant | MODIFIER | HG01981.hp1 HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0218 a0001c0002t0003g0221 a0001c0002t0003g0222 |
3 | 282 | 0.0106 | 5 | c.-12 others(16): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 967 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236716835 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00639.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0115 a0001c0001t0001g0222 a0001c0001t0001g0309 others(23): Show |
26 | 31 | 0.8387 | 5 | c.127 others(22): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236721022 | G | GTTTTT | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0285 a0001c0001t0003g0145 a0001c0001t0003g0153 others(4): Show |
7 | 50 | 0.1400 | 5 | 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 | 236758596 | T | TTTTTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(107): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(22): Show | a0001c0001t0001g0182 a0001c0001t0002g0154 a0001c0001t0005g0056 others(107): Show |
110 | 312 | 0.3526 | 5 | c.230 others(22): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236758624 | T | TTGTTC | intron_variant | MODIFIER | HG02015.hp1 HG02080.hp2 HG02083.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0008others(1): Show | a0001c0001t0011a0002c0005t0004a0002c0008t0004others(1): Show | a0001c0001t0011g0074 a0001c0001t0011g0091 a0002c0005t0004g0009 others(14): Show |
17 | 342 | 0.0497 | 5 | c.230 others(23): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66556760 | G | GTGCTT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(66): Show |
a0003a0005a0009others(4): Show | a0003c0003a0003c0004a0005c0006others(5): Show | a0003c0003t0002a0003c0004t0001a0005c0006t0002others(5): Show | a0003c0003t0002g0002 a0003c0003t0002g0015 a0003c0003t0002g0029 others(25): Show |
69 | 71 | 0.9718 | 5 | c.805 others(20): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66556760 | G | GTGTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(324): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0008others(21): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(151): Show |
327 | 329 | 0.9939 | 5 | c.805 others(20): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38688390 | C | CAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG01256.hp2 others(4): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001a0001c0005t0007others(2): Show | a0001c0002t0001g0038 a0001c0002t0001g0275 a0001c0005t0001g0249 others(4): Show |
7 | 109 | 0.0642 | 5 | c.163 others(24): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735687 | G | GGGGGC | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01257.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0041a0001c0002t0001others(5): Show | a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 others(17): Show |
21 | 279 | 0.0753 | 5 | c.*62 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4099 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735707 | G | GGGGGC | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01109.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0018a0001c0002t0001a0001c0002t0006others(5): Show | a0001c0001t0018g0084 a0001c0002t0001g0051 a0001c0002t0006g0024 others(13): Show |
16 | 285 | 0.0561 | 5 | c.*62 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4119 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735727 | G | GCGGGC | downstream_gene_variant | MODIFIER | HG03516.hp2 NA18939.hp1 NA18993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0260 a0001c0001t0003g0267 a0001c0001t0003g0269 others(1): Show |
4 | 252 | 0.0159 | 5 | c.*62 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4139 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735727 | G | GGGGGC | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01071.hp2 others(38): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0018a0001c0001t0043others(10): Show | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(38): Show |
41 | 289 | 0.1419 | 5 | c.*62 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4139 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735747 | G | GCGGGC | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02015.hp1 HG02040.hp2 others(23): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0003a0001c0001t0011a0001c0001t0016others(4): Show | a0001c0001t0003g0221 a0001c0001t0003g0257 a0001c0001t0003g0260 others(23): Show |
26 | 282 | 0.0922 | 5 | c.*63 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4159 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735747 | G | GGGGGC | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01069.hp1 HG01071.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0018a0001c0001t0019others(6): Show | a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0135 others(22): Show |
25 | 281 | 0.0890 | 5 | c.*63 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4159 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735767 | G | GCGGGC | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02630.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0032a0001c0001t0036 | a0001c0001t0017g0274 a0001c0001t0032g0273 a0001c0001t0036g0297 |
3 | 243 | 0.0123 | 5 | c.*63 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4179 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735767 | G | GGGGGC | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01516.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0001g0029 others(5): Show |
8 | 248 | 0.0323 | 5 | c.*63 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4179 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735817 | G | GCGGGC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(59): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(15): Show | a0001c0001t0001g0087 a0001c0001t0003g0266 a0001c0001t0003g0301 others(58): Show |
62 | 261 | 0.2375 | 5 | c.*63 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4229 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735817 | G | GGGGGC | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01069.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0018others(2): Show | a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0136 others(10): Show |
13 | 212 | 0.0613 | 5 | c.*63 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4229 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735837 | G | GCGGGC | downstream_gene_variant | MODIFIER | HG02080.hp1 HG02280.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021a0001c0001t0036 | a0001c0001t0002g0145 a0001c0001t0021g0004 a0001c0001t0036g0297 |
3 | 233 | 0.0129 | 5 | c.*64 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4249 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735837 | G | GGGGGC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00597.hp2 others(51): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0087 a0001c0001t0002g0115 a0001c0001t0002g0116 others(51): Show |
54 | 284 | 0.1901 | 5 | c.*64 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4249 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735868 | C | CGGGCG | downstream_gene_variant | MODIFIER | HG01169.hp2 HG01952.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0021others(1): Show | a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0152 others(4): Show |
7 | 161 | 0.0435 | 5 | c.*64 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4280 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735881 | G | GGTTCT | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01106.hp1 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0043a0001c0002t0001a0001c0002t0010others(5): Show | a0001c0001t0043g0077 a0001c0002t0001g0016 a0001c0002t0010g0304 others(5): Show |
8 | 312 | 0.0256 | 5 | c.*64 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4293 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735886 | G | GGTTCT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp2 HG01168.hp1 others(17): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0016a0001c0002t0006others(8): Show | a0001c0001t0001g0170 a0001c0001t0001g0205 a0001c0001t0016g0302 others(16): Show |
20 | 299 | 0.0669 | 5 | c.*64 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4298 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735907 | G | GCGGGC | downstream_gene_variant | MODIFIER | HG01978.hp1 HG04228.hp1 NA19003.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0003a0001c0001t0009a0001c0015t0003 | a0001c0001t0003g0266 a0001c0001t0009g0211 a0001c0015t0003g0247 |
3 | 275 | 0.0109 | 5 | c.*64 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4319 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735907 | G | GGGGGC | downstream_gene_variant | MODIFIER | HG01106.hp1 HG03041.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0014 | a0001c0001t0002a0001c0003t0004a0001c0003t0045others(1): Show | a0001c0001t0002g0106 a0001c0003t0004g0194 a0001c0003t0045g0189 others(1): Show |
4 | 276 | 0.0145 | 5 | c.*64 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4319 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735930 | G | GGCGGT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(71): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0031others(5): Show | a0001c0001t0001g0087 a0001c0002t0001g0006 a0001c0002t0001g0007 others(71): Show |
74 | 258 | 0.2868 | 5 | c.*64 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4342 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735937 | G | GGGGGC | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0003g0256 others(13): Show |
16 | 286 | 0.0559 | 5 | c.*65 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4349 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735938 | G | GGGGCA | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01123.hp2 others(12): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0004t0005a0001c0004t0029others(1): Show | a0001c0004t0001g0241 a0001c0004t0005g0222 a0001c0004t0005g0224 others(11): Show |
15 | 185 | 0.0811 | 5 | c.*65 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4350 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735962 | G | GCGGGC | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG02602.hp2 others(4): Show |
a0001 | a0001c0003a0001c0014 | a0001c0003t0004a0001c0003t0008a0001c0003t0045others(1): Show | a0001c0003t0004g0178 a0001c0003t0004g0184 a0001c0003t0008g0182 others(4): Show |
7 | 202 | 0.0347 | 5 | c.*65 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4374 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735962 | G | GGGGGC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(64): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(10): Show | a0001c0001t0001g0087 a0001c0001t0001g0205 a0001c0001t0002g0110 others(64): Show |
67 | 262 | 0.2557 | 5 | c.*65 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4374 | chr19 | TogoVar | |||||||
ACTR3B_chr7_152754752_152860378 | 152765132 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 a0001c0001t0001g0248 a0001c0001t0001g0290 |
3 | 196 | 0.0153 | 5 | c.44+ others(20): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
ACTR3B_chr7_152754752_152860378 | 152785379 | G | GAGAGA | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00735.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0190 a0001c0001t0001g0198 others(40): Show |
45 | 295 | 0.1525 | 5 | c.100 others(22): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ACTR3B_chr7_152754752_152860378 | 152812019 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp2 HG02055.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 others(5): Show |
8 | 25 | 0.3200 | 5 | c.337 others(22): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |