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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTL6A_chr3_179557926_179593407 | 179584611 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(144): Show |
277 | 380 | 0.7290 | -1 | c.112 others(10): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179586351 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01070.hp2 others(51): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 others(25): Show |
54 | 380 | 0.1421 | -1 | c.112 others(9): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179586466 | TG | T | intron_variant | MODIFIER | HG01168.hp2 HG01255.hp1 HG01256.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0070 others(10): Show |
13 | 380 | 0.0342 | -1 | c.112 others(8): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179590696 | TA | T | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01517.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0051 others(7): Show |
11 | 380 | 0.0290 | -1 | c.*26 others(6): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 2290 | chr3 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100638757 | TA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(253): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(181): Show |
256 | 360 | 0.7111 | -1 | c.*44 others(6): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4339 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100642959 | GA | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02965.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0046 |
4 | 360 | 0.0111 | -1 | c.*28 others(5): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 137 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100645638 | AT | A | intron_variant | MODIFIER | HG01256.hp1 HG01884.hp2 HG02486.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0077 a0001c0001t0001g0079 others(11): Show |
14 | 360 | 0.0389 | -1 | c.120 others(9): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 13/13 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100647960 | CT | C | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01167.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0113 others(6): Show |
11 | 360 | 0.0306 | -1 | c.670 others(8): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 7/13 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100649313 | AT | A | intron_variant | MODIFIER | HG02129.hp1 HG02886.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0001g0120 others(4): Show |
7 | 360 | 0.0194 | -1 | c.468 others(8): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100651214 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(249): Show |
356 | 360 | 0.9889 | -1 | c.370 others(9): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100651550 | CA | C | intron_variant | MODIFIER | HG02486.hp2 HG03486.hp2 NA18522.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0058 others(4): Show |
7 | 360 | 0.0194 | -1 | c.370 others(9): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100652421 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00609.hp1 others(69): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(51): Show |
72 | 360 | 0.2000 | -1 | c.370 others(9): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100652999 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00558.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0016 others(26): Show |
53 | 360 | 0.1472 | -1 | c.369 others(9): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100657194 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00609.hp1 others(56): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(39): Show |
59 | 360 | 0.1639 | -1 | c.-84 others(5): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 747 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100657685 | CT | C | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01070.hp1 HG01106.hp1 others(49): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(37): Show |
52 | 360 | 0.1444 | -1 | c.-13 others(6): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 1238 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100659065 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00609.hp1 others(59): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0006 | a0001c0001t0001a0001c0004t0001a0004c0006t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(42): Show |
62 | 360 | 0.1722 | -1 | c.-27 others(6): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 2618 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100660931 | TA | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(86): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(65): Show |
89 | 360 | 0.2472 | -1 | c.-45 others(6): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4484 | chr7 | TogoVar | |||||||
ACTL7B_chr9_108849588_108860986 | 108851837 | CT | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01069.hp2 others(9): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0000 | 12 | 470 | 0.0255 | -1 | c.*28 others(6): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 2750 | chr9 | TogoVar | |||||||
ACTL7B_chr9_108849588_108860986 | 108853643 | CT | C | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG01081.hp1 others(48): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 others(3): Show |
51 | 470 | 0.1085 | -1 | c.*10 others(6): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 944 | chr9 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17755556 | GT | G | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02895.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(5): Show |
8 | 366 | 0.0219 | -1 | c.-25 others(7): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17759837 | TG | T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG02698.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0019 | a0001c0001t0001a0002c0003t0001a0002c0019t0001 | a0001c0001t0001g0026 a0002c0003t0001g0022 a0002c0003t0001g0024 others(2): Show |
5 | 366 | 0.0137 | -1 | c.-25 others(9): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17761134 | AT | A | intron_variant | MODIFIER | HG01167.hp1 HG01515.hp2 HG01891.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0173 others(6): Show |
9 | 366 | 0.0246 | -1 | c.-25 others(9): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17771933 | TC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(105): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0038 others(103): Show |
108 | 366 | 0.2951 | -1 | c.-25 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17776969 | AT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00621.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0139 others(21): Show |
24 | 366 | 0.0656 | -1 | c.-25 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17781237 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(107): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0038 others(105): Show |
110 | 366 | 0.3006 | -1 | c.-25 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17782219 | CA | C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0246 others(6): Show |
9 | 366 | 0.0246 | -1 | c.-25 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17783335 | GT | G | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02080.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0234 others(8): Show |
11 | 366 | 0.0301 | -1 | c.-25 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17783364 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00597.hp1 others(136): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0026 others(134): Show |
139 | 366 | 0.3798 | -1 | c.-25 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17787670 | AT | A | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01070.hp2 others(68): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0156 others(68): Show |
71 | 366 | 0.1940 | -1 | c.-25 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17789781 | TC | T | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG02257.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0358 others(13): Show |
16 | 366 | 0.0437 | -1 | c.-24 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17791432 | AG | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00609.hp2 others(61): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(7): Show | a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0123 others(60): Show |
64 | 366 | 0.1749 | -1 | c.-24 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17795570 | TA | T | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(116): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(17): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0037 others(115): Show |
119 | 366 | 0.3251 | -1 | c.-24 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17799460 | CT | C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01069.hp2 others(29): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0068 others(28): Show |
32 | 366 | 0.0874 | -1 | c.-24 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17799688 | CT | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 others(1): Show |
4 | 366 | 0.0109 | -1 | c.-24 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17800583 | CT | C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00733.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(7): Show | a0001c0001t0001g0098 a0001c0001t0001g0124 a0001c0001t0001g0127 others(30): Show |
33 | 366 | 0.0902 | -1 | c.-24 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17801708 | AC | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02976.hp2 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0003 | a0001c0005t0001g0325 a0001c0005t0001g0326 a0001c0005t0003g0357 |
3 | 366 | 0.0082 | -1 | c.-24 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17804606 | CT | C | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01261.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0139 others(9): Show |
12 | 366 | 0.0328 | -1 | c.-24 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17805377 | CT | C | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01074.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0001 | a0001c0001t0001g0077 a0001c0001t0001g0100 a0001c0001t0001g0101 others(11): Show |
14 | 366 | 0.0383 | -1 | c.-24 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17812427 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00597.hp1 others(76): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0116 others(76): Show |
79 | 366 | 0.2159 | -1 | c.-24 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17812596 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(174): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(17): Show | a0001c0001t0001g0051 a0001c0001t0005g0043 a0001c0002t0001g0014 others(172): Show |
177 | 366 | 0.4836 | -1 | c.-24 others(10): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17816200 | CT | C | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00609.hp2 others(68): Show |
a0001a0008a0010 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0081 a0001c0001t0001g0306 a0001c0001t0001g0307 others(68): Show |
71 | 366 | 0.1940 | -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 | 17817189 | AT | A | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01071.hp2 others(16): Show |
a0001 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(4): Show | a0001c0001t0001g0081 a0001c0001t0001g0349 a0001c0001t0005g0327 others(16): Show |
19 | 366 | 0.0519 | -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 | 17820568 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(111): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0171 others(109): Show |
114 | 366 | 0.3115 | -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 | 17821126 | TA | T | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01071.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(5): Show | a0001c0001t0001g0349 a0001c0001t0005g0327 a0001c0005t0001g0040 others(16): Show |
19 | 366 | 0.0519 | -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 | 17822257 | CT | C | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0343 others(1): Show |
4 | 366 | 0.0109 | -1 | c.-24 others(8): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17826071 | TG | T | frameshift_variant | HIGH | NA19063.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0073 | 1 | 366 | 0.0027 | -1 | c.658 others(4): Show |
p.Glu others(5): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 3/3 | 854/1841 | 658/1101 | 220/366 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
ACTL8_chr1_17750333_17832063 | 17826141 | AG | A | frameshift_variant | HIGH | NA19063.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0073 | 1 | 366 | 0.0027 | -1 | c.724 others(4): Show |
p.Asp others(5): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 3/3 | 920/1841 | 724/1101 | 242/366 | chr1 | TogoVar | |||
ACTL8_chr1_17750333_17832063 | 17826355 | AG | A | frameshift_variant | HIGH | NA19063.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0073 | 1 | 366 | 0.0027 | -1 | c.940 others(4): Show |
p.Glu others(5): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 3/3 | 1136/1841 | 940/1101 | 314/366 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
ACTL9_chr19_8692400_8703795 | 8694916 | AC | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG01069.hp1 others(50): Show |
a0002 | a0002c0002a0002c0006a0002c0012 | a0002c0002t0001a0002c0002t0003a0002c0006t0001others(1): Show | a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0006t0001g0000 others(1): Show |
53 | 356 | 0.1489 | -1 | c.*25 others(6): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2483 | chr19 | TogoVar | |||||||
ACTL9_chr19_8692400_8703795 | 8698595 | TC | T | frameshift_variant | HIGH | NA19078.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0000 | 1 | 356 | 0.0028 | -1 | c.106 others(4): Show |
p.Asp others(4): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 1/1 | 200/1396 | 106/1251 | 36/416 | chr19 | TogoVar |