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 | 236721022 | G | GTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02280.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0146 a0001c0001t0004g0060 a0001c0001t0005g0056 others(9): Show |
12 | 55 | 0.2182 | 6 | c.448 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236737297 | G | GTATATA | intron_variant | MODIFIER | HG03239.hp2 HG03710.hp1 NA18941.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0019a0001c0002t0002 | a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0143 others(3): Show |
6 | 200 | 0.0300 | 6 | c.876 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236740526 | C | CATTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(90): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(90): Show |
93 | 340 | 0.2735 | 6 | c.110 others(25): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236761432 | C | CGTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp2 HG01109.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0002others(5): Show | a0001c0001t0001g0182 a0001c0001t0011g0037 a0001c0002t0002g0072 others(9): Show |
12 | 84 | 0.1429 | 6 | c.252 others(23): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38679568 | C | CGTGTGT | intron_variant | MODIFIER | HG01081.hp2 HG02735.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0043a0001c0002t0001 | a0001c0001t0019g0198 a0001c0001t0019g0199 a0001c0001t0043g0077 others(1): Show |
4 | 102 | 0.0392 | 6 | c.163 others(25): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38692568 | G | GGCCTAA | intron_variant | MODIFIER | HG02965.hp1 HG03139.hp2 NA20300.hp2 |
a0002 | a0002c0008 | a0002c0008t0011 | a0002c0008t0011g0283 a0002c0008t0011g0284 a0002c0008t0011g0285 |
3 | 312 | 0.0096 | 6 | 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 | 38728410 | G | GCTCCTC | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(27): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0006others(3): Show | a0001c0002t0001a0001c0002t0010a0001c0002t0027others(6): Show | a0001c0002t0001g0045 a0001c0002t0001g0074 a0001c0002t0010g0005 others(26): Show |
30 | 208 | 0.1442 | 6 | c.241 others(23): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38736034 | G | GCAGGTC | downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02135.hp2 others(4): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0004t0005a0001c0006t0026others(1): Show | a0001c0004t0001g0229 a0001c0004t0005g0225 a0001c0004t0005g0228 others(4): Show |
7 | 310 | 0.0226 | 6 | c.*66 others(17): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4446 | chr19 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58210123 | A | ATATCTT | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0017others(2): Show | a0001c0001t0006g0026 a0001c0001t0014g0173 a0001c0001t0014g0174 others(4): Show |
8 | 320 | 0.0250 | 6 | c.342 others(23): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58230101 | G | GGGAGTT | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00673.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0029 others(47): Show |
56 | 320 | 0.1750 | 6 | c.789 others(21): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 10/12 | chr14 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65225849 | A | ATTTTTT | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG03491.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(1): Show | a0001c0001t0002g0257 a0001c0001t0005g0246 a0001c0001t0005g0247 others(3): Show |
7 | 208 | 0.0337 | 6 | c.-20 others(17): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1981 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65267862 | C | CTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG01261.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012 | a0001c0001t0002g0218 a0001c0001t0002g0237 a0001c0001t0002g0254 others(11): Show |
15 | 33 | 0.4545 | 6 | c.101 others(23): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152785376 | T | TGAGAGA | intron_variant | MODIFIER | HG01934.hp2 HG01952.hp1 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0296 others(7): Show |
10 | 250 | 0.0400 | 6 | c.100 others(23): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152789023 | A | AAACAAC | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0183 a0001c0001t0001g0196 others(101): Show |
105 | 277 | 0.3791 | 6 | c.100 others(23): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152812019 | C | CTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0223 others(2): Show |
6 | 23 | 0.2609 | 6 | c.337 others(23): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150280798 | A | ATGTGTG | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0204 others(25): Show |
28 | 239 | 0.1172 | 6 | c.564 others(23): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150280818 | G | GTGTATA | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02257.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002 | a0001c0001t0002g0085 a0002c0002t0001g0015 a0002c0002t0001g0115 others(3): Show |
6 | 280 | 0.0214 | 6 | c.564 others(23): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113890251 | G | GGCAGCA | 5_prime_UTR_variant | MODIFIER | NA18945.hp2 NA18981.hp1 NA18992.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0028 a0001c0001t0011g0286 a0001c0001t0011g0301 others(1): Show |
5 | 387 | 0.0129 | 6 | c.-18 others(13): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/12 | 12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR5_chr20_38743460_38777520 | 38776911 | T | TTGTGTG | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01928.hp2 HG01934.hp1 others(15): Show |
a0002a0005a0007 | a0002c0003a0005c0006a0007c0009 | a0002c0003t0003a0002c0003t0007a0005c0006t0003others(1): Show | a0002c0003t0003g0005 a0002c0003t0003g0050 a0002c0003t0003g0127 others(5): Show |
18 | 312 | 0.0577 | 6 | c.*50 others(17): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 4392 | chr20 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100198756 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00642.hp1 HG02129.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0112 a0001c0001t0001g0116 others(1): Show |
4 | 79 | 0.0506 | 6 | c.-20 others(17): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 2058 | chr12 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100200509 | G | GACACAC | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02486.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(8): Show |
13 | 103 | 0.1262 | 6 | c.-34 others(15): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 305 | chr12 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770567 | C | CATAAAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(215): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(23): Show |
218 | 392 | 0.5561 | 6 | c.-10 others(17): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1007 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770567 | C | CGTAAAT | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01255.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0016 a0003c0003t0001g0007 a0003c0003t0001g0009 others(1): Show |
15 | 189 | 0.0794 | 6 | c.-10 others(17): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1007 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770598 | C | CATAAAT | upstream_gene_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00673.hp2 others(33): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0038 others(8): Show |
36 | 389 | 0.0925 | 6 | c.-10 others(17): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1038 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770598 | C | CGTAAAT | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02922.hp2 HG02976.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0009 | 4 | 357 | 0.0112 | 6 | c.-10 others(17): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1038 | chr3 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157588848 | C | CATATAT | intron_variant | MODIFIER | HG01074.hp2 HG01256.hp1 HG02071.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0152 a0001c0001t0001g0196 a0001c0001t0001g0211 others(13): Show |
16 | 35 | 0.4571 | 6 | c.74- others(21): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157629587 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG01358.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0160 a0001c0001t0001g0194 a0001c0001t0001g0196 others(14): Show |
17 | 59 | 0.2881 | 6 | c.-94 others(15): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 724 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826784 | A | AGGAAAG | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02922.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0001others(3): Show | a0001c0002t0001g0031 a0001c0002t0004g0169 a0001c0002t0004g0170 others(8): Show |
11 | 170 | 0.0647 | 6 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157855308 | G | GTATATA | intron_variant | MODIFIER | HG03098.hp2 NA18978.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0004a0001c0006t0006 | a0001c0002t0004g0172 a0001c0006t0006g0022 |
2 | 67 | 0.0299 | 6 | c.-18 others(27): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157858381 | T | TTTACCG | intron_variant | MODIFIER | HG00735.hp1 HG02004.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0004a0001c0001t0013a0001c0002t0001others(4): Show | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(5): Show |
8 | 171 | 0.0468 | 6 | c.-18 others(27): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157862422 | T | TACACAC | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG02040.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0108 others(12): Show |
15 | 38 | 0.3947 | 6 | c.-18 others(27): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157876303 | T | TGCGGCG | 5_prime_UTR_variant | MODIFIER | HG00735.hp1 HG02004.hp1 HG02647.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0001t0013a0001c0002t0004others(4): Show | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(9): Show |
12 | 172 | 0.0698 | 6 | c.-69 others(15): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/11 | 76811 | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147844409 | T | TGCCGCC | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00733.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0173 a0001c0001t0001g0258 a0001c0001t0001g0259 others(31): Show |
43 | 182 | 0.2363 | 6 | c.-74 others(15): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 619 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147845000 | G | GTTTTTT | upstream_gene_variant | MODIFIER | HG01256.hp2 HG02523.hp2 HG02895.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0013 | a0001c0002t0001g0042 a0001c0002t0001g0068 a0001c0002t0001g0091 others(5): Show |
8 | 66 | 0.1212 | 6 | c.-15 others(15): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 28 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147845348 | G | GCCCCCC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(23): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0013a0001c0002t0020 | a0001c0002t0001g0004 a0001c0002t0001g0025 a0001c0002t0001g0026 others(21): Show |
26 | 72 | 0.3611 | 6 | c.55+ others(19): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147881602 | A | AGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01168.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0011 | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0256 others(6): Show |
10 | 268 | 0.0373 | 6 | c.56- others(23): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147890341 | A | AGTGTGT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0189 a0001c0001t0001g0256 a0001c0001t0002g0147 others(32): Show |
35 | 60 | 0.5833 | 6 | c.56- others(21): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38451620 | T | TCAAAAA | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(35): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0010a0001c0001t0027a0001c0001t0028others(22): Show | a0001c0001t0010g0002 a0001c0001t0027g0002 a0001c0001t0027g0126 others(26): Show |
38 | 402 | 0.0945 | 6 | c.-27 others(17): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 2269 | chr3 | TogoVar | |||||||
ACVRL1_chr12_51902504_51928361 | 51919363 | C | CTGTGTG | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG02074.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0002g0006 a0001c0001t0002g0066 a0001c0001t0003g0132 others(3): Show |
19 | 169 | 0.1124 | 6 | c.137 others(23): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACY1_chr3_51978535_51994197 | 51981894 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG02602.hp1 HG02723.hp2 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0031 |
6 | 49 | 0.1224 | 6 | c.-17 others(17): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1640 | chr3 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51993837 | T | TCCTTGG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show |
72 | 275 | 0.2618 | 6 | c.*47 others(17): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 4641 | chr3 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75057964 | C | CAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(19): Show |
63 | 74 | 0.8514 | 6 | c.85- others(21): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75061076 | T | TCAACAA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01070.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0041 |
9 | 184 | 0.0489 | 6 | c.84+ others(21): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53967649 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(7): Show | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(34): Show |
37 | 93 | 0.3978 | 6 | c.-37 others(17): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 3463 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53973855 | A | ATGTGTG | intron_variant | MODIFIER | HG01109.hp1 HG02683.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0167 |
3 | 74 | 0.0405 | 6 | c.62+ others(17): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53982828 | C | CTGTGTG | intron_variant | MODIFIER | HG00597.hp1 HG01243.hp1 HG01346.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0132 a0001c0001t0001g0210 a0001c0001t0001g0211 others(7): Show |
10 | 60 | 0.1667 | 6 | c.62+ others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53982872 | G | GTGTGTA | intron_variant | MODIFIER | HG01074.hp1 HG02717.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(3): Show |
6 | 227 | 0.0264 | 6 | c.62+ others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54013255 | A | ATATGTG | intron_variant | MODIFIER | HG01255.hp2 NA18951.hp2 NA18967.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0002t0015a0002c0003t0002 | a0001c0001t0004g0272 a0001c0002t0015g0075 a0002c0003t0002g0104 |
3 | 33 | 0.0909 | 6 | c.63- others(23): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54015645 | T | TCACACA | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG03195.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0159 others(3): Show |
6 | 69 | 0.0870 | 6 | c.63- others(23): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54017272 | C | CTTTTCT | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00738.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(5): Show | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(32): Show |
35 | 200 | 0.1750 | 6 | c.63- others(23): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |