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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTA2_chr10_88930074_88957773 | 88941795 | TC | T | frameshift_variant | HIGH | NA19059.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0080 | 1 | 402 | 0.0025 | -1 | c.443 others(4): Show |
p.Gly others(5): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 5/9 | 509/1349 | 443/1134 | 148/377 | chr10 | TogoVar | |||
ACTA2_chr10_88930074_88957773 | 88942743 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01069.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0054 others(4): Show |
19 | 402 | 0.0473 | -1 | c.370 others(8): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 4/8 | chr10 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88946722 | AT | A | intron_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG01192.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0015 |
10 | 402 | 0.0249 | -1 | c.258 others(8): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88955033 | AG | A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0023 others(2): Show |
9 | 402 | 0.0224 | -1 | c.-23 others(6): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 2261 | chr10 | TogoVar | |||||||
ACTBL2_chr5_57475018_57487811 | 57479634 | AT | A | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01496.hp2 HG02040.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0000 a0001c0003t0003g0000 |
24 | 448 | 0.0536 | -1 | c.*19 others(6): Show |
ACTBL2 | ENSG00000169067.4 | transcript | ENST00000423391.3 | protein_coding | 383 | chr5 | TogoVar | |||||||
ACTB_chr7_5522148_5535601 | 5526919 | AG | A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG01099.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0009 | a0001c0002t0005g0005 a0001c0002t0009g0011 |
12 | 370 | 0.0324 | -1 | c.*82 others(5): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 228 | chr7 | TogoVar | |||||||
ACTB_chr7_5522148_5535601 | 5526963 | AC | A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02257.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 others(7): Show |
20 | 370 | 0.0541 | -1 | c.*78 others(5): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 184 | chr7 | TogoVar | |||||||
ACTB_chr7_5522148_5535601 | 5527623 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01516.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0021 a0001c0001t0006g0023 a0001c0001t0006g0032 others(2): Show |
8 | 370 | 0.0216 | -1 | c.*12 others(5): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 6/6 | 124 | chr7 | TogoVar | ||||||
ACTB_chr7_5522148_5535601 | 5534408 | CA | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01891.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0044 others(2): Show |
12 | 370 | 0.0324 | -1 | c.-38 others(6): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 3808 | chr7 | TogoVar | |||||||
ACTB_chr7_5522148_5535601 | 5534575 | TC | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(53): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0002g0002 others(9): Show |
56 | 370 | 0.1514 | -1 | c.-40 others(6): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 3975 | chr7 | TogoVar | |||||||
ACTC1_chr15_34785230_34800549 | 34789493 | CT | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00597.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(16): Show |
63 | 496 | 0.1270 | -1 | c.*91 others(5): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 736 | chr15 | TogoVar | |||||||
ACTC1_chr15_34785230_34800549 | 34795351 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00609.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0035 others(12): Show |
50 | 496 | 0.1008 | -1 | c.-23 others(8): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 1/6 | chr15 | TogoVar | |||||||
ACTC1_chr15_34785230_34800549 | 34798918 | AT | A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02647.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(2): Show |
5 | 496 | 0.0101 | -1 | c.-34 others(6): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 3370 | chr15 | TogoVar | |||||||
ACTC1_chr15_34785230_34800549 | 34800230 | AT | A | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01257.hp2 HG01258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(4): Show |
9 | 496 | 0.0182 | -1 | c.-47 others(6): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 4682 | chr15 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81505794 | AT | A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0009a0001c0001t0028a0001c0002t0001others(4): Show | a0001c0001t0009g0019 a0001c0001t0028g0055 a0001c0002t0001g0045 others(6): Show |
34 | 370 | 0.0919 | -1 | c.*48 others(6): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 4176 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81507401 | TG | T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01168.hp1 HG01928.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0044 others(6): Show |
23 | 370 | 0.0622 | -1 | c.*32 others(6): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 2569 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81507712 | CT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(180): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(30): Show |
183 | 370 | 0.4946 | -1 | c.*29 others(6): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 2258 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81508448 | CA | C | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01515.hp2 HG02109.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0001t0022a0001c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0022g0040 others(3): Show |
12 | 370 | 0.0324 | -1 | c.*22 others(6): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 1522 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81509778 | AG | A | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02965.hp1 HG03486.hp2 |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0018 | 3 | 370 | 0.0081 | -1 | c.*91 others(5): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 192 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81510872 | GC | G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(180): Show |
a0001 | a0001c0001a0001c0008a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(24): Show |
183 | 370 | 0.4946 | -1 | c.985 others(7): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 5/5 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81512272 | CG | C | frameshift_variant | HIGH | NA19089.hp2 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0027 | 1 | 370 | 0.0027 | -1 | c.82d others(3): Show |
p.Arg others(4): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 2/6 | 154/1919 | 82/1128 | 28/375 | chr17 | TogoVar | |||
ACTG1_chr17_81504971_81517799 | 81517760 | GC | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(253): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(49): Show |
256 | 370 | 0.6919 | -1 | c.-50 others(6): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 4962 | chr17 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73888626 | TA | T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00735.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0061 others(45): Show |
50 | 416 | 0.1202 | -1 | c.-44 others(6): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 4381 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73889508 | CT | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00733.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0061 others(51): Show |
57 | 416 | 0.1370 | -1 | c.-35 others(6): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3499 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73896347 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(85): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0027 a0001c0001t0001g0126 a0001c0001t0001g0182 others(79): Show |
88 | 416 | 0.2115 | -1 | c.-37 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73897415 | CT | C | intron_variant | MODIFIER | HG02717.hp1 HG03486.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0006a0001c0003t0001 | a0001c0001t0004g0003 a0001c0001t0006g0249 a0001c0003t0001g0396 |
4 | 416 | 0.0096 | -1 | c.-36 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73903939 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00733.hp1 others(50): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0126 a0001c0001t0001g0356 a0001c0001t0001g0357 others(47): Show |
53 | 416 | 0.1274 | -1 | c.255 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73903959 | AC | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(162): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0014 others(152): Show |
165 | 416 | 0.3966 | -1 | c.255 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73904248 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(49): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0129 others(48): Show |
52 | 416 | 0.1250 | -1 | c.255 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904659 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(208): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(195): Show |
211 | 416 | 0.5072 | -1 | c.255 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73908457 | AT | A | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007 | a0001c0001t0003g0229 a0001c0001t0005g0028 a0001c0001t0007g0032 |
3 | 416 | 0.0072 | -1 | c.256 others(8): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73910365 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00639.hp2 others(43): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0007 a0001c0002t0001g0017 a0001c0002t0001g0091 others(41): Show |
46 | 416 | 0.1106 | -1 | c.451 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73910496 | CT | C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01167.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0027 a0001c0001t0001g0126 a0001c0001t0001g0146 others(23): Show |
27 | 416 | 0.0649 | -1 | c.451 others(9): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73913163 | CT | C | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0019 a0001c0002t0003g0021 a0001c0002t0003g0022 |
3 | 416 | 0.0072 | -1 | c.452 others(8): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73914558 | CA | C | intron_variant | MODIFIER | HG01169.hp2 HG01517.hp2 HG01891.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0267 a0001c0001t0001g0320 a0001c0001t0003g0103 others(23): Show |
28 | 416 | 0.0673 | -1 | c.614 others(8): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73915037 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(238): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(223): Show |
241 | 416 | 0.5793 | -1 | c.805 others(8): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73915519 | CA | C | intron_variant | MODIFIER | HG01099.hp2 HG01169.hp1 HG01243.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0353 others(28): Show |
33 | 416 | 0.0793 | -1 | c.805 others(8): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73916374 | GA | G | intron_variant | MODIFIER | HG01109.hp1 HG01169.hp1 NA18951.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(1): Show | a0001c0001t0001g0193 a0001c0001t0001g0366 a0001c0001t0005g0026 others(3): Show |
6 | 416 | 0.0144 | -1 | c.806 others(8): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73918901 | CA | C | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG02074.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0056 a0001c0001t0003g0175 a0001c0002t0002g0165 others(3): Show |
6 | 416 | 0.0144 | -1 | c.988 others(8): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73923658 | AG | A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0001a0001c0003t0007 | a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0374 others(6): Show |
9 | 416 | 0.0216 | -1 | c.*40 others(6): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3794 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73924580 | AT | A | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01433.hp1 HG02451.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0002a0001c0003t0004others(1): Show | a0001c0001t0003g0096 a0001c0001t0003g0101 a0001c0001t0003g0130 others(5): Show |
8 | 416 | 0.0192 | -1 | c.*50 others(6): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 4716 | chr2 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179558227 | GT | G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01071.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(7): Show |
19 | 380 | 0.0500 | -1 | c.-48 others(6): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 4698 | chr3 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179561391 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(164): Show |
299 | 380 | 0.7868 | -1 | c.-17 others(6): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 1534 | chr3 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179562295 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01943.hp2 HG02622.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0051 others(9): Show |
13 | 380 | 0.0342 | -1 | c.-79 others(5): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 630 | chr3 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179564885 | CT | C | intron_variant | MODIFIER | HG01517.hp2 HG02735.hp2 HG02965.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0027 a0001c0001t0001g0083 a0001c0001t0001g0084 others(6): Show |
10 | 380 | 0.0263 | -1 | c.25+ others(8): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179568174 | CA | C | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02630.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0049 a0001c0001t0001g0054 others(5): Show |
11 | 380 | 0.0290 | -1 | c.26- others(8): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179571432 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01070.hp2 others(55): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 others(26): Show |
58 | 380 | 0.1526 | -1 | c.277 others(9): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179572982 | CT | C | intron_variant | MODIFIER | HG01516.hp2 HG02809.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0056 a0001c0001t0001g0092 a0001c0001t0001g0143 others(4): Show |
7 | 380 | 0.0184 | -1 | c.278 others(8): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179573520 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(169): Show |
311 | 380 | 0.8184 | -1 | c.378 others(7): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179580796 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(57): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0002t0001a0005c0009t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 others(30): Show |
60 | 380 | 0.1579 | -1 | c.831 others(7): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |