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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSS3_chr12_81073079_81266210 | 81213938 | T | TTC | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056a0001c0002t0002g0070a0001c0002t0002g0073others(5): Show | 8 | 290 | 0.0276 | 2 | c.135 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213940 | T | TTC | intron_variant | MODIFIER | HG00558.hp2 HG02135.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009 | a0001c0002t0002g0161a0001c0002t0002g0162a0001c0002t0002g0244others(1): Show | 4 | 290 | 0.0138 | 2 | c.135 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213978 | T | TCC | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056a0001c0002t0002g0070a0001c0002t0002g0073others(3): Show | 6 | 290 | 0.0207 | 2 | c.135 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81225156 | T | TTG | intron_variant | MODIFIER | HG00738.hp2 HG02970.hp2 NA19065.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0002a0002c0004t0001 | a0001c0001t0001g0123a0001c0002t0002g0056a0002c0004t0001g0283 | 3 | 290 | 0.0103 | 2 | c.151 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81226964 | T | TAC | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG01081.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0013others(29): Show | 32 | 290 | 0.1103 | 2 | c.151 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81227398 | T | TAC | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(125): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0062a0001c0001t0003g0094a0001c0001t0003g0181others(125): Show | 128 | 290 | 0.4414 | 2 | c.151 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81239892 | C | CAT | intron_variant | MODIFIER | HG00597.hp2 NA18965.hp1 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181a0001c0001t0003g0209a0001c0001t0003g0220 | 3 | 290 | 0.0103 | 2 | c.171 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81244905 | C | CTG | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG02451.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0007others(2): Show | a0001c0001t0001g0119a0001c0002t0002g0056a0001c0002t0002g0070others(11): Show | 14 | 290 | 0.0483 | 2 | c.172 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81251668 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG02109.hp2 others(23): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0005t0005a0001c0005t0007others(2): Show | a0001c0001t0001g0119a0001c0005t0005g0222a0001c0005t0005g0223others(23): Show | 26 | 290 | 0.0897 | 2 | c.172 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81252602 | C | CAT | intron_variant | MODIFIER | HG00597.hp2 HG02257.hp1 NA18965.hp1 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0003a0004c0012t0002 | a0001c0001t0003g0181a0001c0001t0003g0209a0004c0012t0002g0066 | 3 | 290 | 0.0103 | 2 | c.172 others(19): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81265291 | C | CAA | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(63): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0001g0054a0001c0001t0001g0063a0001c0001t0003g0181others(63): Show | 66 | 290 | 0.2276 | 2 | c.*10 others(15): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4082 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81265291 | C | CCA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG02109.hp2 others(5): Show |
a0001a0002 | a0001c0005a0002c0003 | a0001c0005t0005a0002c0003t0005 | a0001c0005t0005g0222a0001c0005t0005g0223a0002c0003t0005g0152others(5): Show | 8 | 290 | 0.0276 | 2 | c.*10 others(15): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4082 | chr12 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229431913 | C | CGG | intron_variant | MODIFIER | HG02074.hp2 HG02258.hp2 NA19054.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016 | 4 | 450 | 0.0089 | 2 | c.809 others(15): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229435461 | C | CCT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0001a0001c0001t0002g0004 | 7 | 450 | 0.0156 | 2 | c.-14 others(13): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229439076 | T | TAA | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02976.hp2 others(4): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0010a0001c0005t0001g0022 | 7 | 450 | 0.0156 | 2 | c.-50 others(13): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 4983 | chr1 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88931827 | C | CTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01891.hp2 HG02809.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(7): Show | 15 | 402 | 0.0373 | 2 | c.*33 others(13): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 3246 | chr10 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88934612 | T | TAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(176): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(50): Show | 179 | 402 | 0.4453 | 2 | c.*60 others(11): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 461 | chr10 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88934714 | C | CGT | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02717.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0035a0001c0001t0001g0100 | 4 | 402 | 0.0100 | 2 | c.*50 others(11): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 359 | chr10 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88945525 | G | GTT | intron_variant | MODIFIER | HG01884.hp2 HG02027.hp1 HG02055.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0034a0001c0001t0001g0092others(2): Show | 8 | 402 | 0.0199 | 2 | c.259 others(19): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 3/8 | chr10 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88946275 | C | CTT | intron_variant | MODIFIER | HG00642.hp2 HG02055.hp2 HG02135.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0026a0001c0001t0001g0035others(3): Show | 10 | 402 | 0.0249 | 2 | c.258 others(17): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 3/8 | chr10 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88951499 | C | CAA | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01123.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0108a0001c0001t0001g0109 | 8 | 402 | 0.0199 | 2 | c.-24 others(19): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
ACTB_chr7_5522148_5535601 | 5534408 | C | CAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0002g0002others(8): Show | 44 | 370 | 0.1189 | 2 | c.-38 others(13): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 3808 | chr7 | TogoVar | ||||||
ACTC1_chr15_34785230_34800549 | 34791307 | T | TCA | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG00735.hp1 others(65): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0013others(12): Show | 68 | 496 | 0.1371 | 2 | c.809 others(15): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 5/6 | chr15 | TogoVar | ||||||
ACTC1_chr15_34785230_34800549 | 34795351 | T | TAA | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01070.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0032others(12): Show | 28 | 496 | 0.0565 | 2 | c.-23 others(17): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 1/6 | chr15 | TogoVar | ||||||
ACTC1_chr15_34785230_34800549 | 34800230 | A | ATT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01070.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(23): Show | 43 | 496 | 0.0867 | 2 | c.-47 others(13): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 4682 | chr15 | TogoVar | ||||||
ACTG1_chr17_81504971_81517799 | 81507390 | G | GTT | downstream_gene_variant | MODIFIER | HG01106.hp2 HG02148.hp1 HG02148.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0006t0004others(2): Show | a0001c0001t0001g0001a0001c0002t0002g0003a0001c0006t0004g0018others(2): Show | 13 | 370 | 0.0351 | 2 | c.*32 others(13): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 2580 | chr17 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73896347 | C | CAA | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0003g0393a0001c0001t0005g0369a0001c0001t0005g0391others(4): Show | 8 | 416 | 0.0192 | 2 | c.-37 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73901532 | A | ATG | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01515.hp1 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0087a0001c0002t0002g0005a0001c0002t0002g0079others(21): Show | 25 | 416 | 0.0601 | 2 | c.126 others(17): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73902018 | C | CGT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00639.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0126a0001c0001t0001g0315a0001c0001t0001g0356others(56): Show | 62 | 416 | 0.1490 | 2 | c.127 others(17): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904739 | T | TTG | intron_variant | MODIFIER | HG02071.hp2 NA18970.hp1 NA19004.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0004 | a0001c0002t0002g0250a0001c0002t0002g0301a0001c0002t0002g0308others(3): Show | 6 | 416 | 0.0144 | 2 | c.255 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904775 | G | GTA | intron_variant | MODIFIER | HG00609.hp1 NA18957.hp2 NA19005.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0117a0001c0002t0002g0235a0001c0002t0002g0303 | 3 | 416 | 0.0072 | 2 | c.255 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904777 | G | GTA | intron_variant | MODIFIER | HG00735.hp2 HG01168.hp1 HG02080.hp1 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0085a0001c0002t0002g0012a0001c0002t0002g0024others(18): Show | 22 | 416 | 0.0529 | 2 | c.255 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73910224 | G | GTA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(197): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(186): Show | 200 | 416 | 0.4808 | 2 | c.451 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73910365 | C | CTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(132): Show | 146 | 416 | 0.3510 | 2 | c.451 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73910966 | T | TAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(210): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(198): Show | 213 | 416 | 0.5120 | 2 | c.451 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73920164 | T | TTG | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02572.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0008a0001c0002t0006 | a0001c0001t0006g0249a0001c0001t0008g0038a0001c0001t0008g0066others(2): Show | 6 | 416 | 0.0144 | 2 | c.*58 others(11): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 300 | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73923699 | G | GAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG01167.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004 | a0001c0001t0005g0013a0001c0001t0005g0025a0001c0001t0005g0026others(11): Show | 14 | 416 | 0.0337 | 2 | c.*41 others(13): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3835 | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73924580 | A | ATT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0067a0001c0001t0001g0122a0001c0001t0001g0126others(18): Show | 22 | 416 | 0.0529 | 2 | c.*50 others(13): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 4716 | chr2 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179559701 | C | CAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(71): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(43): Show | 74 | 380 | 0.1947 | 2 | c.-33 others(13): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 3224 | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179572982 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0004 | a0001c0001t0001a0001c0003t0001a0004c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(60): Show | 135 | 380 | 0.3553 | 2 | c.278 others(17): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACTL6A_chr3_179557926_179593407 | 179579455 | T | TAC | intron_variant | MODIFIER | HG00642.hp1 HG01168.hp1 HG01169.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0023a0001c0001t0001g0145a0001c0001t0001g0151others(9): Show | 26 | 380 | 0.0684 | 2 | c.769 others(19): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACTL6B_chr7_100638097_100661448 | 100652999 | C | CAA | intron_variant | MODIFIER | HG00642.hp1 HG01255.hp1 HG01261.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0064others(12): Show | 17 | 360 | 0.0472 | 2 | c.369 others(19): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | ||||||
ACTL7A_chr9_108857266_108868756 | 108858823 | G | GAC | upstream_gene_variant | MODIFIER | HG01258.hp1 NA18995.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 482 | 0.0062 | 2 | c.-35 others(13): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 3442 | chr9 | TogoVar | ||||||
ACTL7A_chr9_108857266_108868756 | 108858835 | T | TAC | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01109.hp2 HG01515.hp1 others(26): Show |
a0001a0005 | a0001c0001a0001c0013a0005c0007 | a0001c0001t0001a0001c0013t0001a0005c0007t0001 | a0001c0001t0001g0000a0001c0013t0001g0000a0005c0007t0001g0000 | 29 | 482 | 0.0602 | 2 | c.-34 others(13): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 3430 | chr9 | TogoVar | ||||||
ACTL7B_chr9_108849588_108860986 | 108858823 | G | GAC | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 NA18995.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 4 | 470 | 0.0085 | 2 | c.-28 others(13): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 2838 | chr9 | TogoVar | ||||||
ACTL7B_chr9_108849588_108860986 | 108858835 | T | TAC | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01109.hp2 HG01515.hp1 others(27): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0004t0001a0001c0008t0001 | a0001c0001t0001g0000a0001c0004t0001g0000a0001c0008t0001g0000 | 30 | 470 | 0.0638 | 2 | c.-29 others(13): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 2850 | chr9 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17750427 | C | CGT | upstream_gene_variant | MODIFIER | HG02976.hp1 HG03225.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358a0001c0001t0001g0359a0001c0001t0001g0360 | 3 | 366 | 0.0082 | 2 | c.-51 others(13): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 4905 | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17761134 | A | ATT | intron_variant | MODIFIER | HG02129.hp1 HG02683.hp2 NA18942.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0241a0001c0001t0002g0021a0001c0003t0001g0237others(9): Show | 12 | 366 | 0.0328 | 2 | c.-25 others(19): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17763358 | C | CGT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(105): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0026a0001c0001t0001g0037a0001c0001t0001g0038others(103): Show | 108 | 366 | 0.2951 | 2 | c.-25 others(19): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17764574 | G | GCC | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG00741.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0089others(13): Show | 16 | 366 | 0.0437 | 2 | c.-25 others(19): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |