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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTMAP_chr19_40735861_40755477 | 40750417 | G | A | 5_prime_UTR_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0144 | 1 | 424 | 0.0024 | 0 | c.-61 others(4): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/6 | 614 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40750443 | G | A | 5_prime_UTR_variant | MODIFIER | HG00621.hp2 NA18986.hp1 NA18989.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0045 | a0001c0001t0014g0026 a0001c0001t0014g0145 a0001c0001t0045g0146 |
5 | 424 | 0.0118 | 0 | c.-64 others(4): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/6 | 640 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40750456 | GA | G | 5_prime_UTR_variant | MODIFIER | HG00609.hp1 HG02559.hp2 HG04204.hp1 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0010a0001c0003t0023 | a0001c0003t0010g0013 a0001c0003t0010g0067 a0001c0003t0010g0068 others(2): Show |
11 | 424 | 0.0259 | -1 | c.-65 others(5): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/6 | 654 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40750470 | C | T | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(74): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0015a0001c0003t0003a0001c0003t0019others(10): Show | a0001c0001t0015g0058 a0001c0001t0015g0059 a0001c0001t0015g0060 others(23): Show |
77 | 424 | 0.1816 | 0 | c.-66 others(4): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/6 | 667 | chr19 | 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 | 68979150 | C | T | 5_prime_UTR_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 282 | 0.0035 | 0 | c.-94 others(3): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/22 | 94 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68979287 | A | T | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 | 1 | 282 | 0.0035 | 0 | c.-23 others(4): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/22 | 231 | chr14 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236686571 | G | GCGCCCGC | 5_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01168.hp2 others(21): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0006a0001c0001t0015a0001c0001t0017others(11): Show | a0001c0001t0006g0134 a0001c0001t0015g0117 a0001c0001t0017g0098 others(21): Show |
24 | 340 | 0.0706 | 7 | c.-84 others(14): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/21 | 77 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236686631 | C | G | 5_prime_UTR_variant | MODIFIER | HG03239.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0249 a0001c0001t0019g0251 |
2 | 342 | 0.0058 | 0 | c.-43 others(3): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/21 | 43 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236686652 | C | T | 5_prime_UTR_variant | MODIFIER | HG01361.hp2 HG03490.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0044 a0001c0001t0010g0045 a0001c0001t0010g0046 others(1): Show |
4 | 342 | 0.0117 | 0 | c.-22 others(3): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/21 | 22 | chr1 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38647654 | A | G | 5_prime_UTR_variant | MODIFIER | HG01496.hp2 | a0004 | a0004c0019 | a0004c0019t0046 | a0004c0019t0046g0032 | 1 | 312 | 0.0032 | 0 | c.-92 others(3): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/21 | 92 | chr19 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58200164 | A | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(102): Show |
126 | 320 | 0.3938 | 0 | c.-54 others(3): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 1/13 | 54 | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58200206 | T | C | 5_prime_UTR_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0118 | 1 | 320 | 0.0031 | 0 | c.-12 others(3): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 1/13 | 12 | chr14 | TogoVar | ||||||
ACTR1A_chr10_102474229_102507712 | 102502697 | C | T | 5_prime_UTR_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0052 | 1 | 386 | 0.0026 | 0 | c.-50 others(3): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/11 | 50 | chr10 | TogoVar | ||||||
ACTR1B_chr2_97650939_97669044 | 97664025 | C | T | 5_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02922.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0016 a0001c0001t0008g0024 |
3 | 396 | 0.0076 | 0 | c.-13 others(4): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1/11 | 135 | chr2 | TogoVar | ||||||
ACTR1B_chr2_97650939_97669044 | 97664034 | C | A | 5_prime_UTR_variant | MODIFIER | HG02647.hp1 HG02723.hp2 |
a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0023 | 2 | 396 | 0.0051 | 0 | c.-14 others(4): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1/11 | 144 | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65227882 | G | C | 5_prime_UTR_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0009 | 1 | 324 | 0.0031 | 0 | c.-28 others(3): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1/9 | 28 | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65227889 | C | T | 5_prime_UTR_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0101 | 1 | 324 | 0.0031 | 0 | c.-21 others(3): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1/9 | 21 | chr2 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152759809 | T | C | 5_prime_UTR_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0305 | 1 | 308 | 0.0032 | 0 | c.-74 others(3): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/12 | 74 | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152759824 | C | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(121): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 others(119): Show |
124 | 308 | 0.4026 | 0 | c.-59 others(3): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/12 | 59 | 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 | |||||
ACTR6_chr12_100195815_100229424 | 100200827 | C | A | 5_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 |
3 | 240 | 0.0125 | 0 | c.-25 others(3): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 1/11 | 25 | chr12 | TogoVar | ||||||
ACTR8_chr3_53862066_53887152 | 53882103 | A | G | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(176): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(36): Show |
179 | 430 | 0.4163 | 0 | c.-2T others(2): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 1/13 | 2 | chr3 | TogoVar | ||||||
ACTR8_chr3_53862066_53887152 | 53882127 | C | G | 5_prime_UTR_variant | MODIFIER | HG01981.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0025 | 2 | 430 | 0.0047 | 0 | c.-26 others(3): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 1/13 | 26 | chr3 | TogoVar | ||||||
ACTRT1_chrX_128045962_128057403 | 128052211 | G | T | 5_prime_UTR_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 283 | 0.0035 | 0 | c.-5C others(2): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 1/1 | 5 | chrX | TogoVar | ||||||
ACTRT2_chr1_3016467_3027903 | 3021494 | C | T | 5_prime_UTR_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0000 | 1 | 364 | 0.0027 | 0 | c.-19 others(4): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 1/1 | 193 | chr1 | TogoVar | ||||||
ACTRT2_chr1_3016467_3027903 | 3021632 | G | A | 5_prime_UTR_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 364 | 0.0027 | 0 | c.-55 others(3): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 1/1 | 55 | chr1 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51951713 | TGCG | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(269): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 others(236): Show |
272 | 321 | 0.8474 | -3 | c.-11 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/9 | 9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVR1B_chr12_51946699_52002078 | 51951736 | T | C | 5_prime_UTR_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0285 | 1 | 322 | 0.0031 | 0 | c.-8T others(2): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/9 | 8 | chr12 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157628780 | G | A | 5_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02717.hp1 |
a0002 | a0002c0003 | a0002c0003t0017 | a0002c0003t0017g0214 a0002c0003t0017g0215 |
2 | 214 | 0.0093 | 0 | c.-13 others(4): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/9 | 136 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157818390 | T | C | 5_prime_UTR_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0143 | 1 | 172 | 0.0058 | 0 | c.-13 others(3): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/11 | 18897 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157818430 | G | A | 5_prime_UTR_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02257.hp2 others(16): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0003a0001c0002t0015a0001c0002t0020others(4): Show | a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(16): Show |
19 | 172 | 0.1105 | 0 | c.-53 others(3): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/11 | 18937 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157818468 | G | T | 5_prime_UTR_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0087 | 1 | 172 | 0.0058 | 0 | c.-91 others(3): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/11 | 18975 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157875868 | C | CGCGGCGC others(3): Show |
5_prime_UTR_variant | MODIFIER | NA18956.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0011 a0001c0001t0012g0012 |
2 | 172 | 0.0116 | 10 | c.-26 others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/11 | 76376 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157876031 | G | T | 5_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02258.hp2 |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0009 a0001c0002t0011g0010 |
2 | 172 | 0.0116 | 0 | c.-41 others(4): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/11 | 76538 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157876051 | G | T | 5_prime_UTR_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0002t0005a0001c0002t0010others(2): Show | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0002 others(5): Show |
8 | 172 | 0.0465 | 0 | c.-43 others(4): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/11 | 76558 | 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 | ||||||
ACVR2B_chr3_38448890_38498142 | 38454067 | C | T | 5_prime_UTR_variant | MODIFIER | HG03098.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0177a0001c0001t0178 | a0001c0001t0177g0009 a0001c0001t0178g0009 |
2 | 408 | 0.0049 | 0 | c.-25 others(4): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/11 | 256 | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38454076 | C | A | 5_prime_UTR_variant | MODIFIER | HG01928.hp1 HG02647.hp2 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0061 | a0001c0001t0031g0053 a0001c0001t0031g0056 a0001c0001t0061g0075 |
3 | 408 | 0.0074 | 0 | c.-24 others(4): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/11 | 247 | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38454152 | C | T | 5_prime_UTR_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0176 | a0001c0002t0176g0001 | 1 | 408 | 0.0025 | 0 | c.-17 others(4): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/11 | 171 | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38454158 | G | A | 5_prime_UTR_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0131 | 1 | 408 | 0.0025 | 0 | c.-16 others(4): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/11 | 165 | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38454302 | C | T | 5_prime_UTR_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0175 | a0001c0002t0175g0001 | 1 | 408 | 0.0025 | 0 | c.-21 others(3): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/11 | 21 | chr3 | TogoVar | ||||||
ACVRL1_chr12_51902504_51928361 | 51907506 | C | T | 5_prime_UTR_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0043 | 1 | 436 | 0.0023 | 0 | c.-19 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 1/10 | 4969 | chr12 | TogoVar | ||||||
ACVRL1_chr12_51902504_51928361 | 51907599 | C | G | 5_prime_UTR_variant | MODIFIER | HG02809.hp2 HG02886.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0032 | a0001c0001t0019g0008 a0001c0001t0032g0030 |
3 | 436 | 0.0069 | 0 | c.-10 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 1/10 | 4876 | chr12 | TogoVar | ||||||
ACVRL1_chr12_51902504_51928361 | 51907655 | C | G | 5_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02647.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0036 | 3 | 436 | 0.0069 | 0 | c.-46 others(3): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 1/10 | 4820 | chr12 | TogoVar | ||||||
ACY1_chr3_51978535_51994197 | 51983556 | G | A | 5_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 6 | 336 | 0.0179 | 0 | c.-52 others(3): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1/15 | 509 | chr3 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67647556 | C | T | 5_prime_UTR_variant | MODIFIER | HG02083.hp1 | a0004 | a0004c0010 | a0004c0010t0012 | a0004c0010t0012g0082 | 1 | 394 | 0.0025 | 0 | c.-61 others(3): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 2/8 | 513 | chr11 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67647583 | C | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(92): Show |
291 | 394 | 0.7386 | 0 | c.-88 others(3): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 2/8 | 540 | chr11 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67650615 | C | T | 5_prime_UTR_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0058 | 1 | 394 | 0.0025 | 0 | c.-12 others(4): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1/8 | 3572 | chr11 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67650677 | C | T | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0057 | 1 | 394 | 0.0025 | 0 | c.-18 others(4): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1/8 | 3634 | chr11 | TogoVar |