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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTG2_chr2_73888008_73924865 | 73902039 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 231 | 0.0043 | 14 | c.127 others(29): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904777 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 259 | 0.0039 | 14 | c.255 others(31): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904777 | G | GTGTGTAT others(7): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 a0001c0001t0005g0180 |
3 | 261 | 0.0115 | 14 | c.255 others(31): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTL10_chr20_33661943_33673525 | 33673331 | C | CAGTGGGG others(7): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 366 | 0.0027 | 14 | c.*50 others(25): Show |
ACTL10 | ENSG00000288649.2 | transcript | ENST00000677665.1 | protein_coding | 4807 | chr20 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179579453 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 375 | 0.0027 | 14 | c.769 others(31): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179579455 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02145.hp1 HG02258.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 others(10): Show |
19 | 64 | 0.2969 | 14 | c.769 others(31): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6B_chr7_100638097_100661448 | 100652999 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 38 | 0.0263 | 14 | c.369 others(31): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL9_chr19_8692400_8703795 | 8694853 | A | AAGAGAGA others(7): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01175.hp1 HG01517.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(1): Show | a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0006t0001g0000 others(1): Show |
13 | 64 | 0.2031 | 14 | c.*25 others(25): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68881955 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01934.hp2 HG02717.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003a0001c0002t0004 | a0001c0001t0002g0011 a0001c0002t0003g0133 a0001c0002t0004g0098 |
3 | 105 | 0.0286 | 14 | c.195 others(31): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 16/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68978899 | C | CGGGGCTG others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0008others(2): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(37): Show |
41 | 270 | 0.1519 | 14 | c.105 others(27): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236709220 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18906.hp2 |
a0004 | a0004c0012 | a0004c0012t0008 | a0004c0012t0008g0093 a0004c0012t0008g0099 |
2 | 193 | 0.0104 | 14 | c.127 others(31): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236709220 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01952.hp1 HG01975.hp2 others(9): Show |
a0001 | a0001c0003a0001c0006a0001c0018 | a0001c0003t0001a0001c0003t0006a0001c0003t0021others(3): Show | a0001c0003t0001g0001 a0001c0003t0006g0125 a0001c0003t0006g0130 others(8): Show |
12 | 203 | 0.0591 | 14 | c.127 others(31): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236709255 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02818.hp1 HG03225.hp2 |
a0001 | a0001c0004a0001c0007a0001c0027 | a0001c0004t0005a0001c0007t0004a0001c0027t0001 | a0001c0004t0005g0197 a0001c0007t0004g0113 a0001c0027t0001g0315 |
3 | 188 | 0.0160 | 14 | c.127 others(31): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236721015 | G | GGTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02004.hp1 HG02015.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0024others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0283 others(13): Show |
16 | 147 | 0.1088 | 14 | c.448 others(29): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236737297 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0133 | 1 | 195 | 0.0051 | 14 | c.876 others(27): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | chr1 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38659065 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0292 | 1 | 102 | 0.0098 | 14 | c.162 others(33): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38679562 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0002 | 2 | 311 | 0.0064 | 14 | c.163 others(33): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38679568 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01069.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0016a0001c0001t0017others(8): Show | a0001c0001t0003g0221 a0001c0001t0003g0260 a0001c0001t0003g0261 others(25): Show |
29 | 127 | 0.2283 | 14 | c.163 others(33): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38736007 | C | CTCGGGGG others(7): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0018 | a0005c0018t0001 | a0005c0018t0001g0201 | 1 | 309 | 0.0032 | 14 | c.*65 others(25): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4419 | chr19 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102493001 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02273.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0198 a0001c0001t0003g0234 a0001c0001t0004g0023 |
4 | 9 | 0.4444 | 14 | c.49- others(29): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR3B_chr7_152754752_152860378 | 152785479 | G | GAGAGAGA others(7): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 308 | 0.0032 | 14 | c.100 others(31): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152785481 | G | GAGAGAGA others(7): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 a0001c0001t0002g0045 |
2 | 68 | 0.0294 | 14 | c.100 others(31): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152789064 | A | AACAACAA others(7): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 90 | 0.0111 | 14 | c.100 others(31): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152812019 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0172 a0001c0001t0004g0176 |
2 | 19 | 0.1053 | 14 | c.337 others(31): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150280798 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18945.hp1 NA18973.hp2 others(3): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0001a0005c0006t0001 | a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0218 others(3): Show |
6 | 217 | 0.0276 | 14 | c.564 others(31): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR5_chr20_38743460_38777520 | 38776911 | T | TTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG02895.hp2 NA18906.hp1 |
a0002a0003 | a0002c0003a0003c0005 | a0002c0003t0001a0003c0005t0001 | a0002c0003t0001g0061 a0003c0005t0001g0034 a0003c0005t0001g0080 |
3 | 297 | 0.0101 | 14 | c.*50 others(25): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 4392 | chr20 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770533 | A | ATTAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 415 | 0.0024 | 14 | c.-10 others(25): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 973 | chr3 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157555101 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0057 | 1 | 73 | 0.0137 | 14 | c.544 others(29): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157588848 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01243.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(5): Show | a0001c0001t0001g0017 a0001c0001t0001g0202 a0001c0002t0001g0041 others(10): Show |
13 | 32 | 0.4063 | 14 | c.74- others(29): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157588882 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0006 | 1 | 214 | 0.0047 | 14 | c.74- others(29): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157862422 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 a0001c0002t0001g0032 |
2 | 25 | 0.0800 | 14 | c.-18 others(35): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157862869 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 |
3 | 168 | 0.0179 | 14 | c.-18 others(35): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53982828 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0077 | 1 | 51 | 0.0196 | 14 | c.62+ others(29): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54115905 | G | GGGGGGGG others(7): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0162 a0001c0002t0006g0004 |
2 | 254 | 0.0079 | 14 | c.278 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54170748 | A | ACTAGATC others(7): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0104 | 1 | 270 | 0.0037 | 14 | c.404 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54201594 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01358.hp2 HG01928.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0117 a0001c0001t0001g0149 a0001c0001t0001g0160 others(2): Show |
5 | 184 | 0.0272 | 14 | c.404 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201614 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0074 | 1 | 239 | 0.0042 | 14 | c.404 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201618 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 248 | 0.0040 | 14 | c.404 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201618 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 248 | 0.0040 | 14 | c.404 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201626 | T | TTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 256 | 0.0039 | 14 | c.404 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201646 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0126 | 1 | 268 | 0.0037 | 14 | c.404 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201682 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 199 | 0.0050 | 14 | c.404 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54207171 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 262 | 0.0038 | 14 | c.404 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54207173 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01099.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0167 others(19): Show |
22 | 126 | 0.1746 | 14 | c.404 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54219881 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01123.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0002 | a0001c0002t0002g0041 a0002c0003t0002g0031 |
2 | 179 | 0.0112 | 14 | c.404 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54266590 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 6 | 0.1667 | 14 | c.405 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17184983 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01071.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0016others(7): Show | a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0163 others(14): Show |
17 | 217 | 0.0783 | 14 | c.108 others(33): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | |||||||
ADAD1_chr4_122374011_122434784 | 122413851 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 a0001c0001t0001g0204 |
2 | 20 | 0.1000 | 14 | c.124 others(33): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD2_chr16_84186157_84202166 | 84197184 | C | CTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG02040.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0007a0001c0017others(5): Show | a0001c0002t0001a0001c0007t0001a0001c0017t0001others(5): Show | a0001c0002t0001g0001 a0001c0007t0001g0007 a0001c0007t0001g0019 others(6): Show |
19 | 200 | 0.0950 | 14 | c.*21 others(23): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 19 | chr16 | TogoVar | |||||||
ADAL_chr15_43325672_43359569 | 43334633 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0041 a0001c0001t0002g0146 a0001c0001t0004g0127 others(3): Show |
10 | 24 | 0.4167 | 14 | c.-16 others(31): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |