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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTL8_chr1_17750333_17832063 | 17817705 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(193): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(22): Show | a0001c0001t0001g0051 a0001c0001t0001g0156 a0001c0001t0005g0327 others(191): Show |
196 | 366 | 0.5355 | 1 | c.-24 others(9): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17820006 | C | CA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02145.hp2 others(3): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0021 | a0001c0001t0001a0001c0005t0001a0006c0021t0001 | a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0005t0001g0325 others(3): Show |
6 | 366 | 0.0164 | 1 | c.-24 others(9): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17820429 | A | AG | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01071.hp2 others(14): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(3): Show | a0001c0001t0001g0349 a0001c0001t0005g0327 a0001c0005t0001g0040 others(14): Show |
17 | 366 | 0.0465 | 1 | c.-24 others(18): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17821632 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(189): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(19): Show | a0001c0001t0001g0051 a0001c0001t0001g0156 a0001c0002t0001g0012 others(187): Show |
192 | 366 | 0.5246 | 1 | c.-24 others(9): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17822256 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(189): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(19): Show | a0001c0001t0001g0051 a0001c0001t0001g0156 a0001c0002t0001g0012 others(187): Show |
192 | 366 | 0.5246 | 1 | c.-24 others(16): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17823213 | C | CG | frameshift_variant | HIGH | NA18972.hp1 | a0006 | a0006c0021 | a0006c0021t0001 | a0006c0021t0001g0035 | 1 | 366 | 0.0027 | 1 | c.209 others(4): Show |
p.Arg others(4): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 2/3 | 406/1841 | 210/1101 | 70/366 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
ACTL8_chr1_17750333_17832063 | 17825900 | A | AC | frameshift_variant | HIGH | NA18993.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0342 | 1 | 366 | 0.0027 | 1 | c.484 others(4): Show |
p.Gln others(5): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 3/3 | 681/1841 | 485/1101 | 162/366 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
ACTL8_chr1_17750333_17832063 | 17826210 | G | GT | frameshift_variant | HIGH | NA19068.hp2 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0235 | 1 | 366 | 0.0027 | 1 | c.794 others(4): Show |
p.Glu others(5): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 3/3 | 991/1841 | 795/1101 | 265/366 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
ACTL9_chr19_8692400_8703795 | 8693016 | C | CT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0001c0011others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(18): Show |
355 | 356 | 0.9972 | 1 | c.*44 others(12): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 4383 | chr19 | TogoVar | |||||||
ACTL9_chr19_8692400_8703795 | 8696727 | T | TG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(70): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 others(4): Show |
73 | 356 | 0.2051 | 1 | c.*72 others(10): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 672 | chr19 | TogoVar | |||||||
ACTL9_chr19_8692400_8703795 | 8696752 | A | AG | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(5): Show |
79 | 356 | 0.2219 | 1 | c.*69 others(10): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 647 | chr19 | TogoVar | |||||||
ACTL9_chr19_8692400_8703795 | 8697583 | C | CG | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | 1 | c.111 others(10): Show |
p.Gln others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 1212/1396 | 1118/1251 | 373/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8697695 | T | TG | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | 1 | c.100 others(5): Show |
p.Gln others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 1100/1396 | 1006/1251 | 336/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8697769 | T | TG | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | 1 | c.932 others(4): Show |
p.Pro others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 1026/1396 | 932/1251 | 311/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8697793 | G | GT | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | 1 | c.908 others(4): Show |
p.Asn others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 1002/1396 | 908/1251 | 303/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8697837 | T | TG | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | 1 | c.864 others(4): Show |
p.Thr others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 958/1396 | 864/1251 | 288/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8697842 | G | GT | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | 1 | c.859 others(4): Show |
p.Thr others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 953/1396 | 859/1251 | 287/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8698037 | T | TC | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | 1 | c.664 others(4): Show |
p.Asp others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 758/1396 | 664/1251 | 222/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8698077 | A | AG | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | 1 | c.624 others(4): Show |
p.Phe others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 718/1396 | 624/1251 | 208/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8698183 | T | TG | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | 1 | c.518 others(4): Show |
p.Ala others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 612/1396 | 518/1251 | 173/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8698254 | C | CG | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | 1 | c.447 others(4): Show |
p.Asp others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 541/1396 | 447/1251 | 149/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8698260 | A | AC | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | 1 | c.441 others(4): Show |
p.Phe others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 535/1396 | 441/1251 | 147/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8698446 | G | GT | frameshift_variant | HIGH | HG01261.hp1 | a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0000 | 1 | 356 | 0.0028 | 1 | c.255 others(4): Show |
p.Pro others(4): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 349/1396 | 255/1251 | 85/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8698557 | T | TC | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | 1 | c.144 others(4): Show |
p.Thr others(4): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 238/1396 | 144/1251 | 48/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8698623 | T | TG | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | 1 | c.78d others(3): Show |
p.Asn others(4): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 172/1396 | 78/1251 | 26/416 | chr19 | TogoVar | |||
ACTL9_chr19_8692400_8703795 | 8702096 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0008a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(10): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0008t0001g0000 others(10): Show |
237 | 356 | 0.6657 | 1 | c.-33 others(12): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 3302 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40736513 | G | GT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0005a0001c0001t0008a0001c0003t0003others(4): Show | a0001c0001t0005g0115 a0001c0001t0008g0044 a0001c0003t0003g0003 others(14): Show |
62 | 426 | 0.1455 | 1 | c.*59 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4347 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40736829 | A | AT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(115): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0037others(18): Show | a0001c0001t0001g0103 a0001c0001t0005g0005 a0001c0001t0005g0040 others(41): Show |
118 | 426 | 0.2770 | 1 | c.*56 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4031 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40737992 | G | GA | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG02027.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0005g0040 a0001c0003t0003g0003 others(9): Show |
13 | 426 | 0.0305 | 1 | c.*44 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2868 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40742255 | C | CA | 3_prime_UTR_variant | MODIFIER | HG04228.hp2 NA18980.hp2 NA18985.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0026a0002c0002t0029a0002c0002t0041 | a0001c0001t0026g0091 a0001c0001t0026g0102 a0002c0002t0029g0141 others(2): Show |
5 | 426 | 0.0117 | 1 | c.*17 others(5): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 6/6 | 177 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40744788 | T | TC | intron_variant | MODIFIER | HG01123.hp1 HG02257.hp1 HG02647.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0015others(2): Show | a0001c0001t0001g0098 a0001c0001t0006g0041 a0001c0001t0006g0042 others(5): Show |
11 | 426 | 0.0258 | 1 | c.393 others(8): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40746405 | G | GT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(73): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(12): Show | a0001c0001t0001g0087 a0001c0001t0004g0081 a0001c0001t0013g0146 others(25): Show |
76 | 426 | 0.1784 | 1 | c.324 others(9): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40748984 | C | CT | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01167.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0079 a0001c0001t0001g0083 others(12): Show |
23 | 426 | 0.0540 | 1 | c.323 others(8): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40749404 | A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(94): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0034 a0001c0001t0001g0078 a0001c0001t0001g0079 others(36): Show |
97 | 426 | 0.2277 | 1 | c.323 others(7): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40752579 | C | CA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02027.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0027a0002c0002t0002a0002c0002t0006others(5): Show | a0001c0001t0027g0037 a0002c0002t0002g0002 a0002c0002t0002g0130 others(7): Show |
14 | 426 | 0.0329 | 1 | c.-27 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2103 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40753348 | C | CA | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0017 | a0001c0001t0001g0001 a0001c0001t0002g0038 a0001c0004t0017g0023 |
6 | 426 | 0.0141 | 1 | c.-35 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2872 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40754100 | G | GT | upstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01070.hp1 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0089 a0001c0001t0001g0096 others(24): Show |
43 | 426 | 0.1009 | 1 | c.-42 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 3624 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40755257 | C | CT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 others(29): Show |
51 | 426 | 0.1197 | 1 | c.-54 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4781 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68870477 | C | CT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(102): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(11): Show | a0001c0001t0001g0138 a0001c0001t0001g0186 a0001c0001t0001g0195 others(100): Show |
105 | 284 | 0.3697 | 1 | c.*43 others(12): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 3650 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68873838 | T | TA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(101): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0224 others(100): Show |
104 | 284 | 0.3662 | 1 | c.*10 others(12): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 289 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68879195 | T | TG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(110): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0152 others(109): Show |
113 | 284 | 0.3979 | 1 | c.228 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 18/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68881954 | T | TG | intron_variant | MODIFIER | HG02083.hp2 HG02965.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0281 others(1): Show |
4 | 284 | 0.0141 | 1 | c.195 others(18): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 16/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68883473 | T | TA | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0151 a0001c0001t0001g0227 a0001c0001t0001g0228 others(11): Show |
14 | 284 | 0.0493 | 1 | c.163 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 14/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68886969 | A | AT | intron_variant | MODIFIER | HG01069.hp1 HG02602.hp2 NA18948.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0036 others(5): Show |
8 | 284 | 0.0282 | 1 | c.123 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68889538 | T | TA | intron_variant | MODIFIER | HG01069.hp1 HG02602.hp2 NA20129.hp2 |
a0001a0002 | a0001c0004a0002c0007 | a0001c0004t0001a0002c0007t0001 | a0001c0004t0001g0145 a0001c0004t0001g0252 a0002c0007t0001g0250 |
3 | 284 | 0.0106 | 1 | c.123 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68889783 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp1 HG01361.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 others(13): Show |
16 | 284 | 0.0563 | 1 | c.123 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68893642 | C | CA | intron_variant | MODIFIER | HG02630.hp2 HG02896.hp1 HG03579.hp2 others(1): Show |
a0001a0006 | a0001c0003a0001c0018a0001c0019others(1): Show | a0001c0003t0007a0001c0018t0001a0001c0019t0001others(1): Show | a0001c0003t0007g0104 a0001c0018t0001g0259 a0001c0019t0001g0260 others(1): Show |
4 | 284 | 0.0141 | 1 | c.855 others(14): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 9/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68901217 | G | GT | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG01074.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0161 a0001c0001t0001g0185 a0001c0001t0001g0230 others(15): Show |
18 | 284 | 0.0634 | 1 | c.762 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68901249 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(76): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(13): Show | a0001c0001t0001g0139 a0001c0001t0001g0152 a0001c0001t0001g0167 others(76): Show |
79 | 284 | 0.2782 | 1 | c.762 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68903536 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(65): Show |
70 | 284 | 0.2465 | 1 | c.677 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 7/21 | chr14 | TogoVar |