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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN4_chr19_38642649_38736589 | 38673651 | AT | A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00735.hp1 others(29): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0010others(5): Show | a0001c0002t0012a0001c0002t0033a0001c0002t0045others(9): Show | a0001c0002t0012g0003 a0001c0002t0012g0301 a0001c0002t0033g0300 others(28): Show |
32 | 314 | 0.1019 | -1 | c.162 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673662 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(81): Show |
a0001a0005 | a0001c0002a0005c0024 | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(7): Show | a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 others(81): Show |
84 | 314 | 0.2675 | -1 | c.162 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673705 | AT | A | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
a0001a0006 | a0001c0002a0001c0007a0006c0023 | a0001c0002t0040a0001c0007t0001a0006c0023t0001 | a0001c0002t0040g0203 a0001c0007t0001g0200 a0001c0007t0001g0202 others(2): Show |
5 | 314 | 0.0159 | -1 | c.162 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673784 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01069.hp2 others(25): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0016others(16): Show | a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0011g0281 others(24): Show |
28 | 314 | 0.0892 | -1 | c.162 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38680212 | GT | G | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG01433.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0170 a0001c0001t0002g0114 a0001c0001t0002g0131 others(15): Show |
18 | 314 | 0.0573 | -1 | c.163 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38680513 | GA | G | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0025a0001c0001t0026 | a0001c0001t0017g0288 a0001c0001t0025g0286 a0001c0001t0026g0287 |
3 | 314 | 0.0096 | -1 | c.163 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38681129 | GA | G | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00735.hp1 others(49): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0019others(18): Show | a0001c0001t0004g0221 a0001c0001t0004g0255 a0001c0001t0004g0257 others(49): Show |
52 | 314 | 0.1656 | -1 | c.163 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38686965 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(24): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0004t0005others(5): Show | a0001c0001t0002g0162 a0001c0001t0002g0173 a0001c0001t0004g0257 others(24): Show |
27 | 314 | 0.0860 | -1 | c.163 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38687225 | GC | G | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(21): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0005a0001c0004t0013a0001c0004t0048others(3): Show | a0001c0004t0005g0095 a0001c0004t0005g0222 a0001c0004t0005g0224 others(21): Show |
24 | 314 | 0.0764 | -1 | c.163 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38691414 | AC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(62): Show |
a0001a0005a0007 | a0001c0002a0001c0025a0005c0024others(1): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0031others(6): Show | a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 others(62): Show |
65 | 314 | 0.2070 | -1 | c.163 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38703236 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00733.hp1 others(35): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0015others(14): Show | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0172 others(35): Show |
38 | 314 | 0.1210 | -1 | c.398 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38709106 | AG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01069.hp2 others(7): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0008a0001c0005t0018others(2): Show | a0001c0005t0001g0304 a0001c0005t0008g0001 a0001c0005t0008g0004 others(6): Show |
10 | 314 | 0.0319 | -1 | c.652 others(8): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38709453 | TC | T | frameshift_variant | HIGH | HG03490.hp1 | a0007 | a0007c0022 | a0007c0022t0001 | a0007c0022t0001g0275 | 1 | 314 | 0.0032 | -1 | c.714 others(4): Show |
p.Lys others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 7/21 | 811/4990 | 714/2736 | 238/911 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ACTN4_chr19_38642649_38736589 | 38718036 | TC | T | frameshift_variant | HIGH | NA18955.hp2 | a0010 | a0010c0026 | a0010c0026t0006 | a0010c0026t0006g0249 | 1 | 314 | 0.0032 | -1 | c.125 others(5): Show |
p.Arg others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 11/21 | 1352/4990 | 1255/2736 | 419/911 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ACTN4_chr19_38642649_38736589 | 38722477 | AG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(72): Show |
a0001a0005 | a0001c0002a0001c0025a0005c0024 | a0001c0002t0001a0001c0002t0005a0001c0002t0031others(7): Show | a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 others(72): Show |
75 | 314 | 0.2389 | -1 | c.144 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38724208 | AG | A | frameshift_variant | HIGH | NA18955.hp1 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0127 | 1 | 314 | 0.0032 | -1 | c.174 others(5): Show |
p.Glu others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 15/21 | 1844/4990 | 1747/2736 | 583/911 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ACTN4_chr19_38642649_38736589 | 38724244 | GC | G | frameshift_variant | HIGH | NA18939.hp1 | a0008 | a0008c0017 | a0008c0017t0004 | a0008c0017t0004g0264 | 1 | 314 | 0.0032 | -1 | c.178 others(5): Show |
p.Gln others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 15/21 | 1880/4990 | 1783/2736 | 595/911 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ACTN4_chr19_38642649_38736589 | 38726287 | CA | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01069.hp1 others(18): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0024a0001c0002t0001others(5): Show | a0001c0001t0002g0131 a0001c0001t0002g0149 a0001c0001t0002g0153 others(18): Show |
21 | 314 | 0.0669 | -1 | c.219 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38727637 | CG | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(65): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(27): Show | a0001c0001t0004g0221 a0001c0001t0004g0255 a0001c0001t0004g0256 others(64): Show |
68 | 314 | 0.2166 | -1 | c.233 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 18/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38730090 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0024a0001c0002t0005a0001c0004t0005others(6): Show | a0001c0001t0024g0092 a0001c0001t0024g0098 a0001c0002t0005g0054 others(25): Show |
28 | 314 | 0.0892 | -1 | c.*67 others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 21/21 | 670 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38730130 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01069.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0010a0001c0001t0011a0001c0001t0016others(7): Show | a0001c0001t0010g0078 a0001c0001t0010g0082 a0001c0001t0010g0103 others(18): Show |
22 | 314 | 0.0701 | -1 | c.*71 others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 21/21 | 712 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38733103 | CT | C | downstream_gene_variant | MODIFIER | HG02735.hp1 NA18951.hp1 NA18955.hp2 others(4): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0022a0001c0002t0001others(2): Show | a0001c0001t0002g0105 a0001c0001t0002g0119 a0001c0001t0002g0163 others(4): Show |
7 | 314 | 0.0223 | -1 | c.*36 others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1515 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735846 | GC | G | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01109.hp2 others(3): Show |
a0001a0004 | a0001c0003a0004c0013 | a0001c0003t0003a0001c0003t0009a0001c0003t0051others(1): Show | a0001c0003t0003g0088 a0001c0003t0003g0180 a0001c0003t0003g0185 others(3): Show |
6 | 314 | 0.0191 | -1 | c.*64 others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4258 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38736020 | TC | T | downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02004.hp2 others(5): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0005a0001c0004t0013a0001c0006t0005others(2): Show | a0001c0004t0005g0225 a0001c0004t0005g0229 a0001c0004t0005g0233 others(5): Show |
8 | 314 | 0.0255 | -1 | c.*65 others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4432 | chr19 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58195499 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0001g0100 others(16): Show |
19 | 322 | 0.0590 | -1 | c.-47 others(6): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 4649 | chr14 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58198850 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(53): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0079 others(53): Show |
56 | 322 | 0.1739 | -1 | c.-13 others(6): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 1298 | chr14 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58202002 | CA | C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0002g0265 a0001c0001t0005g0186 a0001c0001t0006g0019 others(5): Show |
9 | 322 | 0.0280 | -1 | c.78- others(7): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58202942 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(117): Show |
a0001a0002a0005 | a0001c0001a0002c0005a0005c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(100): Show |
120 | 322 | 0.3727 | -1 | c.150 others(7): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 2/12 | chr14 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58207020 | AT | A | intron_variant | MODIFIER | HG02970.hp1 HG03017.hp2 HG03486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0002g0205 a0001c0001t0004g0259 a0001c0001t0014g0182 others(3): Show |
6 | 322 | 0.0186 | -1 | c.151 others(8): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58215973 | CT | C | intron_variant | MODIFIER | HG00323.hp1 HG01168.hp1 HG01256.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0068 others(16): Show |
19 | 322 | 0.0590 | -1 | c.598 others(8): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58217665 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG02451.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0028 | a0001c0001t0002g0262 a0001c0001t0008g0013 a0001c0001t0008g0014 others(3): Show |
8 | 322 | 0.0248 | -1 | c.599 others(9): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58221280 | TA | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00642.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0057 a0001c0001t0001g0096 a0001c0001t0001g0101 others(37): Show |
41 | 322 | 0.1273 | -1 | c.634 others(9): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58222764 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(244): Show |
284 | 322 | 0.8820 | -1 | c.635 others(8): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58226428 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01070.hp2 others(66): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0002g0192 others(57): Show |
69 | 322 | 0.2143 | -1 | c.788 others(9): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58228681 | CT | C | intron_variant | MODIFIER | HG01074.hp2 HG01346.hp1 HG01358.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0051 others(23): Show |
29 | 322 | 0.0901 | -1 | c.789 others(9): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58230764 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(126): Show |
145 | 322 | 0.4503 | -1 | c.870 others(8): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58232404 | CT | C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01516.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0057 others(17): Show |
20 | 322 | 0.0621 | -1 | c.107 others(9): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58232872 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(127): Show |
146 | 322 | 0.4534 | -1 | c.107 others(9): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58234818 | CT | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(91): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0018 others(80): Show |
94 | 322 | 0.2919 | -1 | c.*28 others(5): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 13/13 | 288 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ACTR10_chr14_58195149_58240636 | 58236155 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(111): Show |
a0001a0002a0005 | a0001c0001a0002c0005a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(96): Show |
114 | 322 | 0.3540 | -1 | c.*16 others(6): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 520 | chr14 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102478338 | CA | C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0084 others(3): Show |
7 | 388 | 0.0180 | -1 | c.*25 others(6): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 890 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102478597 | CT | C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01192.hp2 NA18942.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0026 a0001c0001t0002g0070 a0001c0001t0002g0071 others(4): Show |
8 | 388 | 0.0206 | -1 | c.*22 others(6): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 631 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102484350 | AC | A | frameshift_variant | HIGH | NA19003.hp1 | a0005 | a0005c0003 | a0005c0003t0003 | a0005c0003t0003g0235 | 1 | 388 | 0.0026 | -1 | c.466 others(4): Show |
p.Val others(5): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 6/11 | 531/2830 | 466/1131 | 156/376 | chr10 | TogoVar | |||
ACTR1A_chr10_102474229_102507712 | 102485701 | GT | G | frameshift_variant | HIGH | NA18961.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0146 | 1 | 388 | 0.0026 | -1 | c.347 others(4): Show |
p.Asn others(5): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 5/11 | 412/2830 | 347/1131 | 116/376 | chr10 | TogoVar | |||
ACTR1A_chr10_102474229_102507712 | 102486952 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(151): Show |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(97): Show |
154 | 388 | 0.3969 | -1 | c.315 others(9): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 4/10 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102487631 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(140): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(87): Show |
143 | 388 | 0.3686 | -1 | c.315 others(8): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 4/10 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102490232 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp2 others(109): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0133 others(62): Show |
112 | 388 | 0.2887 | -1 | c.113 others(8): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102490452 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG00733.hp1 others(112): Show |
a0001a0005a0007 | a0001c0001a0005c0003a0007c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0013 others(84): Show |
115 | 388 | 0.2964 | -1 | c.113 others(7): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102495755 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(113): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 others(70): Show |
116 | 388 | 0.2990 | -1 | c.49- others(8): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102497652 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG00733.hp1 others(98): Show |
a0001a0005a0007 | a0001c0001a0005c0003a0007c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0137 a0001c0001t0001g0173 a0001c0001t0002g0115 others(73): Show |
101 | 388 | 0.2603 | -1 | c.48+ others(8): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar |