regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACP7_chr19_39079368_39116493 | 39102118 | TCTCACAC others(7): Show |
T | intron_variant | MODIFIER | HG03471.hp1 NA18979.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0005a0001c0005t0001 | a0001c0002t0005g0342a0001c0005t0001g0021 | 2 | 402 | 0.0050 | -14 | c.111 others(31): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACP7_chr19_39079368_39116493 | 39102753 | TTCTTTCT others(7): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02559.hp2 |
a0001 | a0001c0010 | a0001c0010t0018 | a0001c0010t0018g0134a0001c0010t0018g0135a0001c0010t0018g0138 | 3 | 402 | 0.0075 | -14 | c.111 others(33): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG1_chr15_78162468_78239565 | 78215772 | AAGAAAGA others(7): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0295 | 1 | 350 | 0.0029 | -14 | c.132 others(31): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6184832 | GAAAAAAA others(7): Show |
G | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 262 | 0.0038 | -14 | c.132 others(31): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6190812 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146 | 1 | 262 | 0.0038 | -14 | c.*35 others(29): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6197504 | CCCCCTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | NA18975.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0242 | 1 | 262 | 0.0038 | -14 | c.*48 others(25): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 4414 | chr19 | TogoVar | ||||||
ACSF2_chr17_50421218_50479837 | 50475224 | GGCCAGGC others(7): Show |
G | downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007 | 1 | 320 | 0.0031 | -14 | c.*67 others(23): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 388 | chr17 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89093248 | CCAACAGT others(7): Show |
C | upstream_gene_variant | MODIFIER | NA19003.hp2 | a0004 | a0004c0004 | a0004c0004t0022 | a0004c0004t0022g0103 | 1 | 368 | 0.0027 | -14 | c.-94 others(23): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 603 | chr16 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89147510 | GGTCACAG others(7): Show |
G | intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0061 | 1 | 368 | 0.0027 | -14 | c.161 others(33): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSL3_chr2_222856036_222949639 | 222914234 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0033 | 2 | 252 | 0.0079 | -14 | c.379 others(31): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACSL4_chrX_109636335_109738257 | 109727657 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02559.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0210a0001c0001t0003g0189a0001c0001t0003g0190others(5): Show | 8 | 222 | 0.0360 | -14 | c.-66 others(31): Show |
ACSL4 | ENSG00000068366.21 | transcript | ENST00000672401.1 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112378227 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG01978.hp2 HG02976.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0033others(2): Show | 5 | 364 | 0.0137 | -14 | c.-30 others(31): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112398041 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0016a0001c0001t0001g0025a0001c0001t0002g0017others(3): Show | 6 | 364 | 0.0165 | -14 | c.157 others(29): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL6_chr5_131944973_132016658 | 131964176 | GCTGACAA others(7): Show |
G | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 326 | 0.0031 | -14 | c.171 others(33): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 17/20 | chr5 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20627869 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp2 HG01515.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0041a0001c0001t0002g0044a0001c0001t0002g0147others(6): Show | 10 | 318 | 0.0315 | -14 | c.130 others(31): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20635626 | TTCTTTCT others(7): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 318 | 0.0031 | -14 | c.129 others(33): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20644538 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0282 | 1 | 318 | 0.0031 | -14 | c.993 others(31): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20657267 | GTTGGGTT others(7): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074a0001c0001t0002g0075a0001c0001t0002g0076others(4): Show | 7 | 318 | 0.0220 | -14 | c.992 others(31): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20657286 | GTTTGTTT others(7): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03130.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0067a0001c0007t0001g0069 | 2 | 318 | 0.0063 | -14 | c.992 others(31): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20685822 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp1 HG01516.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050a0001c0002t0001g0051a0001c0002t0001g0052 | 3 | 318 | 0.0094 | -14 | c.193 others(29): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 2/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20691751 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02717.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0018a0001c0001t0002g0209a0001c0001t0002g0210others(6): Show | 9 | 318 | 0.0283 | -14 | c.-51 others(29): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20697556 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01515.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0001a0001c0002t0001g0007a0001c0002t0001g0008others(9): Show | 13 | 318 | 0.0409 | -14 | c.-52 others(27): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20483569 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02257.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0030a0003c0003t0005g0031a0003c0003t0005g0175others(5): Show | 10 | 436 | 0.0229 | -14 | c.162 others(31): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM2B_chr16_20531226_20581367 | 20535485 | CTGTGTGT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02630.hp1 | a0010 | a0010c0022 | a0010c0022t0008 | a0010c0022t0008g0325 | 1 | 388 | 0.0026 | -14 | c.*17 others(25): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20539288 | ACCTATGA others(7): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
a0006 | a0006c0010 | a0006c0010t0003a0006c0010t0017 | a0006c0010t0003g0011a0006c0010t0003g0114a0006c0010t0003g0115others(4): Show | 8 | 388 | 0.0206 | -14 | c.162 others(33): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 13/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0006 | a0006c0020 | a0006c0020t0020 | a0006c0020t0020g0034 | 1 | 388 | 0.0026 | -14 | c.-8- others(29): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20421615 | CTATATAT others(7): Show |
C | intron_variant | MODIFIER | NA18951.hp1 NA18956.hp1 NA19068.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0283others(1): Show | 4 | 434 | 0.0092 | -14 | c.767 others(29): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM5_chr16_20404534_20446336 | 20436020 | ATTCTTTC others(7): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02630.hp2 |
a0001a0023 | a0001c0001a0023c0038 | a0001c0001t0002a0023c0038t0013 | a0001c0001t0002g0164a0023c0038t0013g0298 | 2 | 434 | 0.0046 | -14 | c.130 others(33): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSS2_chr20_34871612_34932959 | 34919576 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0011 | 1 | 312 | 0.0032 | -14 | c.972 others(27): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107503 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp1 HG01168.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0031others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0235a0001c0001t0001g0247others(8): Show | 11 | 290 | 0.0379 | -14 | c.312 others(31): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107511 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG02683.hp1 HG03492.hp1 HG03942.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0062a0001c0001t0001g0225a0001c0001t0003g0209others(3): Show | 6 | 290 | 0.0207 | -14 | c.312 others(31): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACTA1_chr1_229426245_229439094 | 229435458 | GTCCCTCT others(7): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG03453.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0023 | 3 | 450 | 0.0067 | -14 | c.-14 others(25): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1365 | chr1 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229435461 | CCTCTCTC others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02738.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0001 | 6 | 450 | 0.0133 | -14 | c.-14 others(25): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | ||||||
ACTC1_chr15_34785230_34800549 | 34791307 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 496 | 0.0020 | -14 | c.809 others(27): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 5/6 | chr15 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904248 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 416 | 0.0024 | -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 | 73904767 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0332 | 1 | 416 | 0.0024 | -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 | 73904769 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG03130.hp2 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0039a0001c0002t0003g0348 | 2 | 416 | 0.0048 | -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 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG02071.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0059a0001c0002t0006g0004a0001c0002t0006g0051 | 4 | 416 | 0.0096 | -14 | c.255 others(31): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTL6A_chr3_179557926_179593407 | 179562346 | CGCTACCT others(7): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01175.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(3): Show | 10 | 380 | 0.0263 | -14 | c.-74 others(23): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 579 | chr3 | TogoVar | ||||||
ACTL6B_chr7_100638097_100661448 | 100652999 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0044a0001c0001t0001g0211a0001c0001t0001g0229others(1): Show | 5 | 360 | 0.0139 | -14 | c.369 others(31): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | ||||||
ACTL7A_chr9_108857266_108868756 | 108858823 | GACACACA others(7): Show |
G | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01074.hp2 HG02015.hp2 others(31): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0009t0001others(1): Show | a0001c0001t0001g0000a0002c0002t0001g0000a0002c0009t0001g0000others(1): Show | 34 | 482 | 0.0705 | -14 | c.-34 others(25): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 3442 | chr9 | TogoVar | ||||||
ACTL7B_chr9_108849588_108860986 | 108858823 | GACACACA others(7): Show |
G | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG02015.hp2 others(32): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0003t0001g0000others(2): Show | 35 | 470 | 0.0745 | -14 | c.-29 others(25): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 2838 | chr9 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17796306 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01070.hp2 others(81): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(12): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0111others(81): Show | 84 | 366 | 0.2295 | -14 | c.-24 others(33): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17802424 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0265 | 1 | 366 | 0.0027 | -14 | c.-24 others(33): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236689300 | GATATATA others(7): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02965.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0005 | a0001c0001t0005g0055a0001c0003t0005g0047 | 2 | 344 | 0.0058 | -14 | c.126 others(31): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236693177 | GCACACAC others(7): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320a0001c0001t0001g0321a0001c0001t0001g0322 | 3 | 344 | 0.0087 | -14 | c.126 others(31): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236752743 | AGGTTTCA others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(269): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(269): Show | 272 | 344 | 0.7907 | -14 | c.183 others(33): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN3_chr11_66541903_66568334 | 66552870 | TCTCTCTC others(7): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(61): Show |
a0002a0003a0015others(1): Show | a0002c0002a0003c0003a0003c0004others(3): Show | a0002c0002t0001a0003c0003t0002a0003c0004t0001others(3): Show | a0002c0002t0001g0030a0002c0002t0001g0031a0002c0002t0001g0057others(21): Show | 64 | 400 | 0.1600 | -14 | c.383 others(31): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACTN3_chr11_66541903_66568334 | 66552872 | TCTCTCTC others(7): Show |
T | intron_variant | MODIFIER | NA18999.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0182 | 1 | 400 | 0.0025 | -14 | c.383 others(31): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACTN3_chr11_66541903_66568334 | 66552876 | TCTCTCAC others(7): Show |
T | intron_variant | MODIFIER | HG03492.hp2 NA19009.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0130 | 3 | 400 | 0.0075 | -14 | c.383 others(31): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |