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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN1_chr14_68869128_68984302 | 68905982 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp1 others(59): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(58): Show |
62 | 284 | 0.2183 | 1 | c.595 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68906986 | A | AG | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00738.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 others(38): Show |
41 | 284 | 0.1444 | 1 | c.595 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68907257 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG01516.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0226 others(11): Show |
15 | 284 | 0.0528 | 1 | c.594 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68907259 | T | TA | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00597.hp1 others(56): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(56): Show |
59 | 284 | 0.2078 | 1 | c.594 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68908010 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG01516.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0004 | a0001c0001t0001g0205 a0001c0001t0001g0226 a0001c0001t0001g0239 others(7): Show |
10 | 284 | 0.0352 | 1 | c.594 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68918520 | A | AG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(280): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(278): Show |
283 | 284 | 0.9965 | 1 | c.340 others(18): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 3/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68918731 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(105): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(105): Show |
108 | 284 | 0.3803 | 1 | c.340 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 3/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68925318 | C | CT | intron_variant | MODIFIER | HG01433.hp2 HG02602.hp1 HG02622.hp1 others(9): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0164 a0001c0001t0001g0237 a0001c0001t0001g0245 others(9): Show |
12 | 284 | 0.0423 | 1 | c.220 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 2/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68925341 | T | TA | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0201 a0001c0001t0002g0001 |
3 | 284 | 0.0106 | 1 | c.220 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 2/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68929462 | G | GC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(224): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 others(223): Show |
227 | 284 | 0.7993 | 1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68932513 | C | CT | intron_variant | MODIFIER | HG00597.hp1 HG01891.hp1 HG02109.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0007 | a0001c0001t0001g0166 a0001c0001t0001g0201 a0001c0001t0002g0001 others(2): Show |
6 | 284 | 0.0211 | 1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68932539 | T | TA | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG01884.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0230 others(12): Show |
15 | 284 | 0.0528 | 1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68935387 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00639.hp2 others(53): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(8): Show | a0001c0001t0001g0151 a0001c0001t0001g0182 a0001c0001t0001g0186 others(53): Show |
56 | 284 | 0.1972 | 1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68938910 | A | AG | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01081.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0169 others(22): Show |
25 | 284 | 0.0880 | 1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68945163 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(234): Show |
239 | 284 | 0.8416 | 1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68958520 | T | TA | intron_variant | MODIFIER | HG01069.hp1 HG01884.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0152 a0001c0001t0002g0001 a0001c0001t0002g0012 others(3): Show |
7 | 284 | 0.0247 | 1 | c.105 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68960748 | T | TA | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0152 a0001c0001t0002g0025 a0001c0001t0002g0070 others(4): Show |
7 | 284 | 0.0247 | 1 | c.105 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68971115 | T | TA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01255.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 others(3): Show |
6 | 284 | 0.0211 | 1 | c.105 others(18): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68977800 | T | TC | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(50): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0008others(5): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(50): Show |
53 | 284 | 0.1866 | 1 | c.105 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68977807 | C | CA | intron_variant | MODIFIER | HG01891.hp1 HG03130.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(2): Show |
5 | 284 | 0.0176 | 1 | c.105 others(18): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68981689 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(196): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(194): Show |
199 | 284 | 0.7007 | 1 | c.-26 others(12): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 2388 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236684104 | C | CT | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01243.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0110 a0001c0001t0001g0139 a0001c0001t0001g0141 others(19): Show |
22 | 344 | 0.0640 | 1 | c.-25 others(12): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2394 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236685007 | A | AG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(81): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(81): Show |
84 | 344 | 0.2442 | 1 | c.-16 others(12): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1491 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236688185 | G | GT | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01175.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0006a0001c0002t0002a0001c0003t0001others(6): Show | a0001c0001t0006g0135 a0001c0002t0002g0247 a0001c0003t0001g0129 others(15): Show |
18 | 344 | 0.0523 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236688376 | C | CT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01361.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0015 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0114 a0001c0001t0004g0117 a0001c0001t0004g0119 others(10): Show |
13 | 344 | 0.0378 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236690935 | C | CT | intron_variant | MODIFIER | HG02083.hp1 NA18939.hp2 NA18943.hp2 others(3): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0003a0001c0002t0002a0002c0008t0004others(1): Show | a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0202 others(3): Show |
6 | 344 | 0.0174 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236692797 | A | AG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(329): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(329): Show |
332 | 344 | 0.9651 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236694203 | A | AT | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01168.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0006a0001c0001t0015a0001c0003t0001others(5): Show | a0001c0001t0006g0135 a0001c0001t0015g0116 a0001c0003t0001g0129 others(15): Show |
18 | 344 | 0.0523 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236694220 | C | CT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01175.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(4): Show | a0001c0001t0001g0114 a0001c0001t0001g0335 a0001c0001t0004g0246 others(7): Show |
10 | 344 | 0.0291 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236695212 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(44): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0041 others(218): Show |
221 | 344 | 0.6424 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236695375 | C | CA | intron_variant | MODIFIER | HG00609.hp2 HG01169.hp2 HG01258.hp1 others(10): Show |
a0001a0002a0008 | a0001c0001a0001c0015a0001c0016others(3): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(6): Show | a0001c0001t0003g0039 a0001c0001t0003g0104 a0001c0001t0003g0105 others(10): Show |
13 | 344 | 0.0378 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236695563 | T | TC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(144): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0001g0103 others(144): Show |
147 | 344 | 0.4273 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236696666 | A | AT | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01168.hp2 others(18): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0110 a0001c0001t0001g0195 a0001c0001t0001g0224 others(18): Show |
21 | 344 | 0.0611 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236697760 | C | CT | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00639.hp2 others(66): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0110 a0001c0001t0001g0139 a0001c0001t0001g0141 others(66): Show |
69 | 344 | 0.2006 | 1 | c.126 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236697934 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(241): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0001g0103 others(241): Show |
244 | 344 | 0.7093 | 1 | c.126 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236697946 | T | TA | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp1 NA18522.hp2 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0002a0001c0003t0005a0001c0006t0002 | a0001c0003t0002g0170 a0001c0003t0005g0172 a0001c0006t0002g0171 |
3 | 344 | 0.0087 | 1 | c.126 others(20): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236698224 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(316): Show |
319 | 344 | 0.9273 | 1 | c.126 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236702132 | T | TA | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0018a0001c0002t0002a0001c0004t0005others(1): Show | a0001c0001t0018g0303 a0001c0002t0002g0271 a0001c0002t0002g0283 others(3): Show |
6 | 344 | 0.0174 | 1 | c.126 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236703433 | C | CT | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00642.hp2 others(24): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0184 a0001c0001t0001g0221 a0001c0001t0001g0276 others(24): Show |
27 | 344 | 0.0785 | 1 | c.127 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236713226 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(90): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0184 others(90): Show |
93 | 344 | 0.2704 | 1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236713573 | A | AG | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00639.hp2 others(89): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0011 a0001c0001t0001g0139 a0001c0001t0001g0141 others(89): Show |
92 | 344 | 0.2674 | 1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236713818 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(66): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0114 others(66): Show |
69 | 344 | 0.2006 | 1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236713885 | T | TA | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp1 NA18995.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0010a0001c0002t0002a0001c0004t0005others(1): Show | a0001c0001t0010g0044 a0001c0002t0002g0218 a0001c0002t0002g0229 others(2): Show |
5 | 344 | 0.0145 | 1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236713952 | T | TA | intron_variant | MODIFIER | HG00609.hp2 HG01891.hp1 HG02630.hp2 others(3): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0020others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0003g0039 a0001c0001t0003g0111 a0001c0001t0004g0246 others(3): Show |
6 | 344 | 0.0174 | 1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714086 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0253 a0001c0001t0001g0258 others(16): Show |
19 | 344 | 0.0552 | 1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714220 | T | TA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp1 others(22): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(12): Show | a0001c0001t0003g0020 a0001c0001t0003g0238 a0001c0001t0004g0003 others(22): Show |
25 | 344 | 0.0727 | 1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714287 | T | TA | intron_variant | MODIFIER | HG01243.hp1 HG02970.hp1 HG03654.hp1 others(5): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0031others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0307 a0001c0001t0001g0333 a0001c0001t0003g0020 others(5): Show |
8 | 344 | 0.0233 | 1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714354 | T | TA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00738.hp1 others(45): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0011 a0001c0001t0001g0114 a0001c0001t0001g0259 others(45): Show |
48 | 344 | 0.1395 | 1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714421 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01884.hp2 others(20): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0006 a0001c0001t0001g0253 a0001c0001t0001g0260 others(20): Show |
23 | 344 | 0.0669 | 1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714488 | T | TA | intron_variant | MODIFIER | HG03195.hp1 HG03195.hp2 HG03516.hp1 others(3): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0017others(3): Show | a0001c0001t0004g0102 a0001c0001t0011g0090 a0001c0001t0017g0097 others(3): Show |
6 | 344 | 0.0174 | 1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |