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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM2A_chr16_20446521_20492669 | 20458905 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 344 | 0.0029 | 10 | c.-8- others(25): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20458909 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG03831.hp1 NA19064.hp2 |
a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0161 a0003c0003t0012g0162 |
2 | 434 | 0.0046 | 10 | c.-8- others(25): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20488494 | C | CAGAGAGA others(3): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG02738.hp1 HG02965.hp1 others(6): Show |
a0003a0004 | a0003c0003a0003c0010a0004c0004 | a0003c0003t0007a0003c0003t0012a0003c0010t0006others(1): Show | a0003c0003t0007g0013 a0003c0003t0007g0235 a0003c0003t0012g0161 others(4): Show |
9 | 306 | 0.0294 | 10 | c.*18 others(21): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 826 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20535485 | C | CTCTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01261.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0030 a0001c0002t0002g0306 |
2 | 72 | 0.0278 | 10 | c.*17 others(21): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20535485 | C | CTGTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp2 HG01167.hp2 others(10): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0004t0002others(3): Show | a0001c0002t0002g0233 a0001c0002t0002g0235 a0001c0002t0004g0259 others(8): Show |
13 | 83 | 0.1566 | 10 | c.*17 others(21): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20561979 | C | CTTGCCAT others(3): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 HG03927.hp2 |
a0009 | a0009c0015 | a0009c0015t0008 | a0009c0015t0008g0040 a0009c0015t0008g0319 |
3 | 386 | 0.0078 | 10 | c.178 others(27): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | T | TTTTATAT others(3): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01943.hp1 HG02040.hp1 others(13): Show |
a0002 | a0002c0003a0002c0009a0002c0019 | a0002c0003t0005a0002c0003t0013a0002c0009t0009others(1): Show | a0002c0003t0005g0049 a0002c0003t0005g0058 a0002c0003t0005g0063 others(12): Show |
16 | 49 | 0.3265 | 10 | c.-8- others(25): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566700 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 157 | 0.0064 | 10 | c.-8- others(25): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20432847 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00738.hp2 others(32): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0007a0001c0035others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0007others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0061 others(28): Show |
35 | 152 | 0.2303 | 10 | c.130 others(29): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20436112 | T | TTCTTTCT others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp1 others(64): Show |
a0003a0005a0006others(3): Show | a0003c0003a0005c0008a0006c0005others(3): Show | a0003c0003t0001a0003c0003t0003a0005c0008t0006others(6): Show | a0003c0003t0001g0142 a0003c0003t0001g0205 a0003c0003t0003g0002 others(48): Show |
67 | 243 | 0.2757 | 10 | c.130 others(27): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSS1_chr20_25001237_25063139 | 25028918 | C | CAAAAAGA others(3): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0025 | a0001c0025t0003 | a0001c0025t0003g0207 | 1 | 242 | 0.0041 | 10 | c.631 others(27): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 3/13 | chr20 | TogoVar | |||||||
ACSS1_chr20_25001237_25063139 | 25033147 | C | CACAGCAG others(3): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0025 | a0001c0025t0003 | a0001c0025t0003g0207 | 1 | 152 | 0.0066 | 10 | c.432 others(27): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | |||||||
ACSS1_chr20_25001237_25063139 | 25033147 | C | CATAGCAG others(3): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00639.hp1 others(87): Show |
a0001a0002a0003others(7): Show | a0001c0003a0001c0007a0001c0010others(17): Show | a0001c0003t0003a0001c0007t0001a0001c0007t0006others(20): Show | a0001c0003t0003g0005 a0001c0003t0003g0008 a0001c0003t0003g0013 others(79): Show |
90 | 241 | 0.3734 | 10 | c.432 others(27): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | |||||||
ACSS2_chr20_34871612_34932959 | 34879496 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02273.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0048 a0001c0003t0001g0133 a0001c0003t0001g0134 others(1): Show |
4 | 30 | 0.1333 | 10 | c.178 others(27): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34899416 | T | TTCTTTCT others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(36): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0159 others(34): Show |
39 | 308 | 0.1266 | 10 | c.375 others(29): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81073209 | C | CTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0062 others(53): Show |
56 | 101 | 0.5545 | 10 | c.-49 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4869 | chr12 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81098151 | A | AGAGTGTG others(3): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 159 | 0.0063 | 10 | c.312 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81107503 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0242 a0001c0001t0004g0021 |
2 | 238 | 0.0084 | 10 | c.312 others(27): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81107511 | C | CACACATA others(3): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19003.hp1 NA19077.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0003g0206 others(1): Show |
4 | 84 | 0.0476 | 10 | c.312 others(27): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81157931 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0125 a0001c0001t0004g0195 |
2 | 139 | 0.0144 | 10 | c.109 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81172259 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01070.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0025others(9): Show | a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0115 others(25): Show |
28 | 107 | 0.2617 | 10 | c.109 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213558 | C | CCTCCTCT others(3): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03516.hp1 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0011 a0001c0005t0007g0012 |
2 | 275 | 0.0073 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213580 | T | TCCTCCCC others(3): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01952.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 |
3 | 132 | 0.0227 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213702 | T | TCTCCCCT others(3): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0244 | 1 | 282 | 0.0035 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213702 | T | TCTCCCCT others(3): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02630.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0032 | a0001c0002t0002g0246 a0001c0002t0032g0126 |
2 | 283 | 0.0071 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213793 | T | TTTCTCTT others(3): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01496.hp2 HG01928.hp2 others(24): Show |
a0001 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0019others(3): Show | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 others(24): Show |
27 | 210 | 0.1286 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213840 | T | TCTCTTCT others(3): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02683.hp2 HG03704.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0022a0001c0002t0002 | a0001c0001t0003g0219 a0001c0001t0022g0244 a0001c0002t0002g0141 |
3 | 141 | 0.0213 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213851 | C | CTCTCCTC others(3): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01496.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0074 a0001c0001t0003g0252 a0001c0001t0004g0021 others(19): Show |
22 | 166 | 0.1325 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213938 | T | TTCCTTCC others(3): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0118 | 1 | 277 | 0.0036 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | chr12 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTCTCTTT others(3): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 60 | 0.0167 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTTTCTTT others(3): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 60 | 0.0167 | 10 | c.135 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81227398 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01167.hp1 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0078 a0001c0002t0002g0217 |
2 | 109 | 0.0183 | 10 | c.151 others(29): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229435461 | C | CCTCTCTC others(3): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 84 | 0.0238 | 10 | c.-14 others(21): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88934612 | T | TACACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01123.hp1 HG01255.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0063 others(4): Show |
11 | 47 | 0.2340 | 10 | c.*60 others(19): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 461 | chr10 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73901532 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02165.hp2 NA18949.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0308 a0001c0002t0002g0059 a0001c0002t0002g0171 others(2): Show |
5 | 289 | 0.0173 | 10 | c.126 others(25): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73902035 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02257.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004a0001c0003t0007 | a0001c0003t0002g0262 a0001c0003t0004g0052 a0001c0003t0004g0053 others(1): Show |
4 | 414 | 0.0097 | 10 | c.127 others(25): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73902037 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG03486.hp2 NA18522.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0001 | a0001c0001t0004g0003 a0001c0003t0001g0392 |
3 | 405 | 0.0074 | 10 | c.127 others(25): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73902039 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(152): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(142): Show |
155 | 385 | 0.4026 | 10 | c.127 others(25): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73902047 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0035 | 1 | 414 | 0.0024 | 10 | c.127 others(25): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904775 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18973.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0236 a0001c0002t0003g0023 |
2 | 384 | 0.0052 | 10 | c.255 others(27): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904777 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03516.hp1 NA18994.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0009 | a0001c0002t0003g0041 a0001c0002t0004g0019 a0001c0002t0004g0172 others(1): Show |
4 | 262 | 0.0153 | 10 | c.255 others(27): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904777 | G | GTGTATAT others(3): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02683.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0130 a0001c0002t0002g0264 a0001c0002t0002g0270 |
3 | 261 | 0.0115 | 10 | c.255 others(27): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73919942 | G | GAGAGAGG others(3): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0383 | 1 | 414 | 0.0024 | 10 | c.*36 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 78 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73923641 | C | CAAGAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00597.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0018 others(57): Show |
61 | 157 | 0.3885 | 10 | c.*40 others(21): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3777 | chr2 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179579453 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 375 | 0.0027 | 10 | c.769 others(27): 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(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01433.hp2 HG02145.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0177 others(7): Show |
15 | 60 | 0.2500 | 10 | c.769 others(27): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17796306 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG01891.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0118 others(18): Show |
22 | 38 | 0.5789 | 10 | c.-24 others(29): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17802424 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02071.hp1 NA19010.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0318 a0002c0004t0001g0334 |
2 | 215 | 0.0093 | 10 | c.-24 others(29): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17816200 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03195.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0006 | a0001c0005t0001g0176 a0001c0005t0001g0302 a0001c0005t0001g0303 others(2): Show |
5 | 200 | 0.0250 | 10 | c.-24 others(27): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8694853 | A | AAGAGAGA others(3): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 others(2): Show |
27 | 78 | 0.3462 | 10 | c.*25 others(21): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar |