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 | 38654561 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01891.hp2 others(43): Show |
a0001a0008a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0004g0221 others(42): Show |
46 | 314 | 0.1465 | 1 | c.162 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38659921 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(120): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(46): Show | a0001c0001t0001g0170 a0001c0001t0002g0099 a0001c0001t0002g0163 others(118): Show |
123 | 314 | 0.3917 | 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 | 38662909 | G | GT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(34): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0049a0001c0002t0007others(13): Show | a0001c0001t0002g0093 a0001c0001t0049g0076 a0001c0002t0007g0219 others(33): Show |
37 | 314 | 0.1178 | 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 | 38666223 | T | TC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp2 others(43): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0005c0024others(1): Show | a0001c0001t0030a0001c0002t0001a0001c0002t0005others(6): Show | a0001c0001t0030g0294 a0001c0002t0001g0025 a0001c0002t0001g0026 others(43): Show |
46 | 314 | 0.1465 | 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 | 38667706 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(103): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(17): Show | a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0105 others(102): Show |
106 | 314 | 0.3376 | 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 | 38670921 | T | TA | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG02738.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(2): Show | a0001c0001t0002g0112 a0001c0001t0006g0298 a0001c0002t0001g0009 others(6): Show |
9 | 314 | 0.0287 | 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 | 38670932 | A | AC | 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(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38671694 | A | AT | 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 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38672238 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(184): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0170 a0001c0001t0001g0205 a0001c0001t0002g0210 others(182): Show |
187 | 314 | 0.5955 | 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 | 38672943 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0021a0001c0001t0032others(16): Show | a0001c0001t0002g0099 a0001c0001t0002g0163 a0001c0001t0002g0166 others(66): Show |
70 | 314 | 0.2229 | 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 | 38673665 | T | TC | intron_variant | MODIFIER | HG02896.hp2 HG03139.hp1 HG03209.hp2 others(3): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0022 | a0001c0001t0021a0001c0001t0043a0001c0001t0049others(2): Show | a0001c0001t0021g0083 a0001c0001t0021g0196 a0001c0001t0043g0295 others(3): Show |
6 | 314 | 0.0191 | 1 | c.162 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673681 | T | TA | intron_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 others(2): Show |
5 | 314 | 0.0159 | 1 | c.162 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673690 | A | AT | intron_variant | MODIFIER | HG03139.hp1 HG03209.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0049 | a0001c0001t0021g0083 a0001c0001t0021g0196 a0001c0001t0049g0076 |
3 | 314 | 0.0096 | 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 | 38673701 | T | TA | intron_variant | MODIFIER | HG03139.hp1 HG03209.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0049 | a0001c0001t0021g0083 a0001c0001t0021g0196 a0001c0001t0049g0076 |
3 | 314 | 0.0096 | 1 | c.162 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673784 | A | AT | intron_variant | MODIFIER | HG01261.hp2 HG01952.hp2 HG02145.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0020a0001c0001t0022others(5): Show | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0105 others(9): Show |
12 | 314 | 0.0382 | 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 | 38674166 | G | GT | intron_variant | MODIFIER | HG02965.hp1 HG03139.hp2 NA20300.hp2 |
a0002 | a0002c0008 | a0002c0008t0011 | a0002c0008t0011g0278 a0002c0008t0011g0279 a0002c0008t0011g0280 |
3 | 314 | 0.0096 | 1 | c.162 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38676139 | C | CG | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(23): Show |
a0001 | a0001c0002a0001c0004a0001c0006others(1): Show | a0001c0002t0001a0001c0004t0005a0001c0004t0013others(5): Show | a0001c0002t0001g0226 a0001c0004t0005g0095 a0001c0004t0005g0222 others(23): Show |
26 | 314 | 0.0828 | 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 | 38679859 | G | GA | 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.163 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38680212 | G | GT | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00642.hp1 others(31): Show |
a0001a0003a0008others(1): Show | a0001c0001a0003c0009a0008c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0086 a0001c0001t0001g0205 a0001c0001t0002g0081 others(31): Show |
34 | 314 | 0.1083 | 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 | G | GA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(62): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(16): Show | a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0126 others(62): Show |
65 | 314 | 0.2070 | 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 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(84): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0025others(2): Show | a0001c0001t0019a0001c0002t0001a0001c0002t0005others(10): Show | a0001c0001t0019g0299 a0001c0002t0001g0005 a0001c0002t0001g0006 others(84): Show |
87 | 314 | 0.2771 | 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 | 38688390 | C | CA | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG00735.hp2 others(60): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0205 a0001c0001t0002g0080 a0001c0001t0002g0102 others(59): Show |
63 | 314 | 0.2006 | 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 | 38688732 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp1 others(62): Show |
a0001a0004a0008others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(22): Show | a0001c0001t0002g0166 a0001c0001t0004g0221 a0001c0001t0004g0255 others(61): Show |
65 | 314 | 0.2070 | 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 | 38691401 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0022a0001c0002t0001a0001c0002t0007others(6): Show | a0001c0001t0022g0198 a0001c0001t0022g0199 a0001c0002t0001g0218 others(26): Show |
29 | 314 | 0.0924 | 1 | c.163 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38694264 | C | CT | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00735.hp1 others(29): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0010others(5): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0033others(10): Show | a0001c0002t0001g0283 a0001c0002t0012g0003 a0001c0002t0012g0301 others(28): Show |
32 | 314 | 0.1019 | 1 | c.163 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38694740 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(71): Show | a0001c0001t0001g0086 a0001c0001t0001g0170 a0001c0001t0001g0205 others(307): Show |
313 | 314 | 0.9968 | 1 | c.163 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38694879 | C | CG | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0005others(5): Show | a0001c0001t0002g0132 a0001c0001t0002g0166 a0001c0002t0001g0021 others(24): Show |
27 | 314 | 0.0860 | 1 | c.163 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38699754 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp2 others(64): Show |
a0001a0008a0010others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0002g0129 a0001c0001t0004g0221 a0001c0001t0004g0255 others(63): Show |
67 | 314 | 0.2134 | 1 | c.163 others(8): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38703236 | A | AT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(73): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0019others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(10): Show | a0001c0001t0001g0205 a0001c0002t0001g0005 a0001c0002t0001g0006 others(73): Show |
76 | 314 | 0.2420 | 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 | 38703405 | A | AT | 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.398 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38709451 | C | CG | frameshift_variant | HIGH | NA19003.hp2 | a0011 | a0011c0021 | a0011c0021t0004 | a0011c0021t0004g0261 | 1 | 314 | 0.0032 | 1 | c.708 others(8): Show |
p.Ile others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 7/21 | 806/4990 | 709/2736 | 237/911 | chr19 | TogoVar | |||
ACTN4_chr19_38642649_38736589 | 38712246 | A | AG | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(22): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0006a0001c0004t0005a0001c0004t0013others(4): Show | a0001c0001t0006g0253 a0001c0004t0005g0095 a0001c0004t0005g0222 others(22): Show |
25 | 314 | 0.0796 | 1 | c.819 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38724288 | C | CA | frameshift_variant | HIGH | NA18939.hp1 | a0008 | a0008c0017 | a0008c0017t0004 | a0008c0017t0004g0264 | 1 | 314 | 0.0032 | 1 | c.182 others(5): Show |
p.Asn others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 15/21 | 1924/4990 | 1827/2736 | 609/911 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ACTN4_chr19_38642649_38736589 | 38724307 | A | AC | frameshift_variant | HIGH | HG01109.hp2 | a0004 | a0004c0013 | a0004c0013t0003 | a0004c0013t0003g0179 | 1 | 314 | 0.0032 | 1 | c.184 others(5): Show |
p.Gln others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 15/21 | 1945/4990 | 1848/2736 | 616/911 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ACTN4_chr19_38642649_38736589 | 38726287 | C | CA | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01257.hp1 others(11): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0020a0001c0001t0024others(7): Show | a0001c0001t0002g0152 a0001c0001t0002g0174 a0001c0001t0002g0207 others(11): Show |
14 | 314 | 0.0446 | 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 | 38727627 | A | AC | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00733.hp1 others(27): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0022others(8): Show | a0001c0001t0002g0163 a0001c0001t0002g0207 a0001c0001t0015g0124 others(27): Show |
30 | 314 | 0.0955 | 1 | c.233 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38728448 | T | TC | intron_variant | MODIFIER | HG00597.hp2 HG01884.hp2 HG03942.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0002a0001c0002t0001a0001c0002t0007others(1): Show | a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0296 others(6): Show |
9 | 314 | 0.0287 | 1 | c.241 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38730090 | C | CA | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG02135.hp1 others(19): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0006a0001c0001t0011a0001c0001t0014others(8): Show | a0001c0001t0006g0250 a0001c0001t0006g0251 a0001c0001t0006g0252 others(19): Show |
22 | 314 | 0.0701 | 1 | c.*67 others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 21/21 | 671 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38730130 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00735.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0015a0001c0001t0019a0001c0001t0025others(10): Show | a0001c0001t0015g0118 a0001c0001t0015g0124 a0001c0001t0015g0140 others(32): Show |
35 | 314 | 0.1115 | 1 | c.*71 others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 21/21 | 713 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38731572 | T | TA | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG01952.hp1 NA18747.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0023 a0001c0002t0007g0214 a0001c0002t0007g0215 others(4): Show |
7 | 314 | 0.0223 | 1 | c.*21 others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 21/21 | 2142 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38733095 | T | TG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp2 others(40): Show |
a0001a0005 | a0001c0002a0001c0025a0005c0024 | a0001c0002t0001a0001c0002t0005a0001c0002t0031others(5): Show | a0001c0002t0001g0017 a0001c0002t0001g0025 a0001c0002t0001g0026 others(40): Show |
43 | 314 | 0.1369 | 1 | c.*36 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1507 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38733103 | C | CT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(54): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0019others(20): Show | a0001c0001t0002g0150 a0001c0001t0002g0296 a0001c0001t0006g0250 others(53): Show |
57 | 314 | 0.1815 | 1 | c.*36 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1515 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735082 | A | AG | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01169.hp1 others(18): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0205 a0001c0001t0002g0112 a0001c0001t0002g0143 others(18): Show |
21 | 314 | 0.0669 | 1 | c.*56 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 3494 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735309 | A | AG | downstream_gene_variant | MODIFIER | HG01169.hp1 HG01517.hp2 HG02027.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(5): Show | a0001c0001t0002g0149 a0001c0001t0006g0250 a0001c0002t0001g0061 others(6): Show |
9 | 314 | 0.0287 | 1 | c.*58 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 3721 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735930 | G | GC | downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02004.hp2 others(1): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0005a0001c0004t0013a0001c0006t0005others(1): Show | a0001c0004t0005g0229 a0001c0004t0013g0228 a0001c0006t0005g0237 others(1): Show |
4 | 314 | 0.0127 | 1 | c.*64 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4342 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735937 | G | GC | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001a0006 | a0001c0007a0006c0023 | a0001c0007t0001a0006c0023t0001 | a0001c0007t0001g0200 a0001c0007t0001g0202 a0001c0007t0001g0204 others(1): Show |
4 | 314 | 0.0127 | 1 | c.*65 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4349 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38736018 | G | GC | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02155.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0016a0001c0001t0017a0001c0001t0025others(3): Show | a0001c0001t0016g0302 a0001c0001t0016g0303 a0001c0001t0017g0288 others(4): Show |
7 | 314 | 0.0223 | 1 | c.*65 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4430 | chr19 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58195499 | C | CA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG01106.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0079 a0001c0001t0001g0098 a0001c0001t0001g0187 others(21): Show |
25 | 322 | 0.0776 | 1 | c.-47 others(12): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 4649 | chr14 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58197889 | T | TA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00738.hp1 others(72): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(63): Show |
75 | 322 | 0.2329 | 1 | c.-23 others(12): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 2259 | chr14 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58198191 | G | GA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(101): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0088 a0001c0001t0002g0004 a0001c0001t0002g0005 others(90): Show |
104 | 322 | 0.3230 | 1 | c.-20 others(12): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 1957 | chr14 | TogoVar |