regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 17776969 | A | ATT | intron_variant | MODIFIER | HG00733.hp2 HG01071.hp1 HG01169.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0032a0001c0001t0001g0153others(20): Show | 23 | 366 | 0.0628 | 2 | c.-25 others(21): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17796306 | C | CTG | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp1 others(92): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(12): Show | a0001c0001t0001g0026a0001c0001t0001g0045a0001c0001t0001g0081others(91): Show | 95 | 366 | 0.2596 | 2 | c.-24 others(21): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17800583 | C | CTT | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01261.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0077a0001c0001t0001g0241a0001c0001t0001g0349others(15): Show | 18 | 366 | 0.0492 | 2 | c.-24 others(21): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17802424 | C | CGT | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG02258.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0055others(11): Show | 14 | 366 | 0.0383 | 2 | c.-24 others(21): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17817189 | A | ATT | intron_variant | MODIFIER | HG00323.hp1 HG02145.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0008a0001c0003t0001a0001c0006t0001others(1): Show | a0001c0001t0008g0017a0001c0003t0001g0088a0001c0003t0001g0206others(3): Show | 6 | 366 | 0.0164 | 2 | c.-24 others(19): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17817705 | C | CTT | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02622.hp2 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001a0001c0005t0003others(1): Show | a0001c0001t0001g0349a0001c0005t0001g0040a0001c0005t0001g0104others(8): Show | 11 | 366 | 0.0301 | 2 | c.-24 others(19): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17820581 | T | TTC | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01071.hp2 others(14): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(3): Show | a0001c0001t0001g0349a0001c0001t0005g0327a0001c0005t0001g0040others(14): Show | 17 | 366 | 0.0465 | 2 | c.-24 others(19): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17824924 | A | AGG | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02615.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001a0001c0005t0003others(1): Show | a0001c0001t0001g0307a0001c0001t0001g0309a0001c0001t0001g0349others(10): Show | 13 | 366 | 0.0355 | 2 | c.349 others(17): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL9_chr19_8692400_8703795 | 8694853 | A | AAG | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00639.hp2 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0002c0002t0001g0000others(2): Show | 52 | 356 | 0.1461 | 2 | c.*25 others(13): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8702096 | C | CAA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(71): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0002c0002t0001g0000others(4): Show | 74 | 356 | 0.2079 | 2 | c.-33 others(13): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 3302 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40736829 | A | ATT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(203): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0019others(71): Show | 206 | 426 | 0.4836 | 2 | c.*56 others(13): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4031 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40753348 | C | CAA | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02451.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0007a0001c0001t0008g0044a0001c0001t0008g0107others(2): Show | 14 | 426 | 0.0329 | 2 | c.-35 others(13): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2872 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40754100 | G | GTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(156): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0019others(49): Show | 159 | 426 | 0.3732 | 2 | c.-42 others(13): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 3624 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40755257 | C | CTT | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02258.hp1 HG02280.hp1 others(8): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(4): Show | a0001c0001t0002g0038a0001c0001t0007g0009a0001c0001t0011g0104others(5): Show | 11 | 426 | 0.0258 | 2 | c.-54 others(13): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4781 | chr19 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68870477 | C | CTT | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01069.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(5): Show | a0001c0001t0001g0139a0001c0001t0001g0152a0001c0001t0001g0165others(36): Show | 39 | 284 | 0.1373 | 2 | c.*43 others(13): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 3650 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68880464 | T | TAC | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00642.hp1 others(75): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0143a0001c0001t0001g0152a0001c0001t0001g0159others(74): Show | 78 | 284 | 0.2747 | 2 | c.213 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 17/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68881955 | T | TGA | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0152a0001c0001t0001g0201a0001c0001t0002g0001 | 4 | 284 | 0.0141 | 2 | c.195 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 16/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68889783 | C | CAA | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01884.hp1 others(12): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0001 | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0165others(12): Show | 15 | 284 | 0.0528 | 2 | c.123 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68891198 | T | TTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(206): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0140others(204): Show | 209 | 284 | 0.7359 | 2 | c.108 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 10/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68899377 | T | TCC | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01243.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0141others(31): Show | 34 | 284 | 0.1197 | 2 | c.762 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68899380 | A | ACC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(88): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(11): Show | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0167others(87): Show | 91 | 284 | 0.3204 | 2 | c.762 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68901249 | G | GTT | intron_variant | MODIFIER | HG00738.hp2 HG01255.hp2 HG01943.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0213a0001c0001t0001g0216a0001c0001t0001g0228others(13): Show | 16 | 284 | 0.0563 | 2 | c.762 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68903536 | C | CAA | intron_variant | MODIFIER | HG02027.hp2 NA18940.hp2 NA18970.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0021a0001c0001t0002g0023others(5): Show | 8 | 284 | 0.0282 | 2 | c.677 others(17): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 7/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68905982 | C | CAA | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0138a0001c0001t0001g0207a0001c0001t0001g0209others(4): Show | 7 | 284 | 0.0247 | 2 | c.595 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68907259 | T | TAA | intron_variant | MODIFIER | HG03195.hp1 HG03225.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0019 | a0001c0001t0001a0001c0003t0001a0001c0019t0001 | a0001c0001t0001g0147a0001c0001t0001g0170a0001c0001t0001g0174others(3): Show | 6 | 284 | 0.0211 | 2 | c.594 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68925318 | C | CTT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(5): Show | a0001c0001t0001g0159a0001c0001t0001g0161a0001c0001t0001g0219others(61): Show | 65 | 284 | 0.2289 | 2 | c.220 others(17): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 2/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68935387 | A | ATT | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG01981.hp2 others(8): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0237a0001c0001t0002g0010a0001c0001t0002g0023others(8): Show | 11 | 284 | 0.0387 | 2 | c.106 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68940677 | T | TAA | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00738.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0147others(49): Show | 53 | 284 | 0.1866 | 2 | c.106 others(21): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68945163 | C | CAA | intron_variant | MODIFIER | HG01192.hp2 HG02886.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0226a0001c0001t0001g0228a0001c0001t0001g0244others(4): Show | 7 | 284 | 0.0247 | 2 | c.106 others(21): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68974552 | T | TCA | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01074.hp1 others(55): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(7): Show | a0001c0001t0001g0155a0001c0001t0001g0159a0001c0001t0001g0160others(55): Show | 58 | 284 | 0.2042 | 2 | c.105 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68977800 | T | TCC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00738.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0170a0001c0001t0001g0171a0001c0001t0001g0172others(15): Show | 18 | 284 | 0.0634 | 2 | c.105 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236685616 | A | ATG | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01168.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0006a0001c0001t0015a0001c0003t0006others(6): Show | a0001c0001t0006g0135a0001c0001t0015g0116a0001c0003t0006g0124others(15): Show | 18 | 344 | 0.0523 | 2 | c.-10 others(13): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 882 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236685738 | C | CAG | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0001t0009a0001c0007t0004 | a0001c0001t0004g0117a0001c0001t0009g0091a0001c0007t0004g0085 | 3 | 344 | 0.0087 | 2 | c.-93 others(11): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 760 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236685840 | C | CGA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01496.hp1 others(7): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0023 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0327a0001c0001t0001g0328a0001c0001t0001g0330others(7): Show | 10 | 344 | 0.0291 | 2 | c.-83 others(11): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 658 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236688376 | C | CTT | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01433.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0006a0001c0003t0001a0001c0003t0006others(4): Show | a0001c0001t0006g0135a0001c0003t0001g0129a0001c0003t0001g0133others(13): Show | 16 | 344 | 0.0465 | 2 | c.126 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236693177 | G | GCA | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00741.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0142a0001c0001t0001g0146a0001c0001t0001g0148others(38): Show | 41 | 344 | 0.1192 | 2 | c.126 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236695212 | C | CAA | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp1 HG02698.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0184a0001c0001t0001g0265a0001c0001t0001g0320others(7): Show | 10 | 344 | 0.0291 | 2 | c.126 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236695563 | T | TCC | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(48): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0114a0001c0001t0001g0211a0001c0001t0001g0230others(48): Show | 51 | 344 | 0.1483 | 2 | c.126 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236697934 | A | ATT | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG01261.hp1 others(25): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0308a0001c0001t0003g0147a0001c0001t0003g0202others(25): Show | 28 | 344 | 0.0814 | 2 | c.126 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236701377 | G | GTA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02109.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0015 | a0001c0001t0005a0001c0001t0011a0001c0001t0015others(2): Show | a0001c0001t0005g0055a0001c0001t0011g0090a0001c0001t0015g0116others(3): Show | 6 | 344 | 0.0174 | 2 | c.126 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236705207 | A | AAT | intron_variant | MODIFIER | HG02647.hp2 HG03139.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0117a0001c0001t0004g0119a0001c0001t0009g0118 | 3 | 344 | 0.0087 | 2 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709218 | C | CTG | intron_variant | MODIFIER | HG00609.hp1 HG01243.hp2 HG02015.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0146a0001c0001t0001g0148a0001c0001t0001g0154others(12): Show | 15 | 344 | 0.0436 | 2 | c.127 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709220 | G | GTA | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG01106.hp1 others(13): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0041a0001c0001t0001g0222a0001c0001t0001g0224others(13): Show | 16 | 344 | 0.0465 | 2 | c.127 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709253 | T | TAC | intron_variant | MODIFIER | HG00741.hp2 HG04115.hp1 HG04204.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0258a0001c0001t0001g0264a0001c0001t0001g0318others(1): Show | 4 | 344 | 0.0116 | 2 | c.127 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709344 | G | GTA | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00673.hp2 others(49): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0139a0001c0001t0001g0141a0001c0001t0001g0142others(49): Show | 52 | 344 | 0.1512 | 2 | c.127 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709368 | G | GTA | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00673.hp2 others(71): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0139a0001c0001t0001g0141a0001c0001t0001g0142others(71): Show | 74 | 344 | 0.2151 | 2 | c.127 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236716835 | A | ATT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(35): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0242others(35): Show | 38 | 344 | 0.1105 | 2 | c.127 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236721015 | G | GGT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0184a0001c0001t0001g0190a0001c0001t0001g0195others(36): Show | 39 | 344 | 0.1134 | 2 | c.448 others(17): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236721022 | G | GTT | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01261.hp1 others(11): Show |
a0001a0003a0008 | a0001c0003a0001c0006a0001c0018others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(8): Show | a0001c0003t0001g0133a0001c0003t0002g0051a0001c0003t0003g0058others(11): Show | 14 | 344 | 0.0407 | 2 | c.448 others(17): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236722634 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(258): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(258): Show | 261 | 344 | 0.7587 | 2 | c.448 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |