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 | 68960748 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(118): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0149 others(118): Show |
121 | 269 | 0.4498 | -1 | c.105 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68966597 | TC | T | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02056.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 others(11): Show |
14 | 282 | 0.0496 | -1 | c.105 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236682522 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(107): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0018 a0001c0001t0001g0104 a0001c0001t0001g0115 others(107): Show |
110 | 340 | 0.3235 | -1 | c.-41 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 3976 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236683947 | GT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(327): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(326): Show |
330 | 342 | 0.9649 | -1 | c.-27 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2551 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236684111 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0001g0104 a0001c0001t0001g0143 a0001c0001t0001g0144 others(215): Show |
218 | 342 | 0.6374 | -1 | c.-25 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2387 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236690935 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(204): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(51): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(203): Show |
207 | 323 | 0.6409 | -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 | AT | A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02280.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0018others(3): Show | a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0079 others(7): Show |
10 | 321 | 0.0312 | -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 | CA | C | intron_variant | MODIFIER | HG01106.hp2 HG01168.hp2 HG01169.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0015others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0034 others(10): Show |
13 | 111 | 0.1171 | -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 | 236695572 | CT | C | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01433.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0006a0001c0003t0001a0001c0003t0006others(4): Show | a0001c0001t0006g0134 a0001c0003t0001g0001 a0001c0003t0006g0125 others(12): Show |
16 | 342 | 0.0468 | -1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236696317 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0104 others(274): Show |
278 | 336 | 0.8274 | -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 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(115): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0115 others(115): Show |
118 | 319 | 0.3699 | -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 | CT | C | intron_variant | MODIFIER | HG01071.hp1 HG02132.hp2 HG02735.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0001g0321 a0001c0001t0004g0079 a0001c0001t0014g0085 others(4): Show |
7 | 267 | 0.0262 | -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 | 236701368 | GA | G | intron_variant | MODIFIER | HG02647.hp2 HG03139.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0009g0119 |
3 | 342 | 0.0088 | -1 | c.126 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236703433 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(43): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0250 others(43): Show |
46 | 312 | 0.1474 | -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 | 236703662 | CT | C | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02027.hp1 others(23): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(13): Show | a0001c0001t0003g0236 a0001c0001t0003g0273 a0001c0001t0003g0289 others(23): Show |
26 | 340 | 0.0765 | -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 | 236706111 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(95): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0115 others(95): Show |
98 | 342 | 0.2866 | -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 | 236707709 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(92): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0042 a0001c0001t0001g0182 a0001c0001t0001g0186 others(91): Show |
95 | 103 | 0.9223 | -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 | 236712920 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(169): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0104 others(168): Show |
172 | 273 | 0.6300 | -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 | 236713226 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01123.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0003g0105 others(9): Show |
12 | 248 | 0.0484 | -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 | 236715155 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(107): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0042 a0001c0001t0001g0104 a0001c0001t0001g0182 others(107): Show |
110 | 314 | 0.3503 | -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 | 236716099 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(182): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0032 others(182): Show |
185 | 335 | 0.5522 | -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 | 236717078 | GC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(53): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(309): Show |
313 | 342 | 0.9152 | -1 | c.127 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236721021 | TG | T | intron_variant | MODIFIER | HG01123.hp1 HG01258.hp1 HG01516.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0001t0012a0001c0002t0002others(1): Show | a0001c0001t0001g0305 a0001c0001t0012g0020 a0001c0001t0012g0110 others(3): Show |
6 | 342 | 0.0175 | -1 | c.448 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236722634 | CA | C | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01261.hp1 others(27): Show |
a0001a0004a0005 | a0001c0003a0001c0006a0001c0011others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(10): Show | a0001c0003t0001g0001 a0001c0003t0002g0053 a0001c0003t0002g0168 others(26): Show |
30 | 36 | 0.8333 | -1 | c.448 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236724838 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(271): Show |
275 | 332 | 0.8283 | -1 | c.449 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236727185 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(277): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(277): Show |
280 | 342 | 0.8187 | -1 | c.537 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236728143 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(119): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(119): Show |
122 | 238 | 0.5126 | -1 | c.615 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236728633 | GC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(172): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(172): Show |
175 | 342 | 0.5117 | -1 | c.615 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 6/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236730271 | CT | C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01123.hp1 others(24): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(11): Show | a0001c0001t0001g0111 a0001c0001t0004g0103 a0001c0001t0012g0020 others(23): Show |
27 | 171 | 0.1579 | -1 | c.616 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236735383 | AG | A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01106.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0042 a0001c0001t0001g0137 a0001c0001t0001g0139 others(26): Show |
29 | 342 | 0.0848 | -1 | c.698 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236736599 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(167): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(166): Show |
170 | 342 | 0.4971 | -1 | c.784 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236737527 | CT | C | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG02015.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0042 a0001c0001t0001g0137 a0001c0001t0001g0139 others(17): Show |
20 | 342 | 0.0585 | -1 | c.876 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236742544 | AC | A | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG01168.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0018 a0001c0001t0001g0104 a0001c0001t0002g0154 others(22): Show |
25 | 342 | 0.0731 | -1 | c.110 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236743569 | CT | C | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01243.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(7): Show | a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0004g0060 others(15): Show |
18 | 335 | 0.0537 | -1 | c.125 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236746165 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(178): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(177): Show |
181 | 257 | 0.7043 | -1 | c.140 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236746706 | CA | C | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01258.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0003g0105 others(16): Show |
19 | 337 | 0.0564 | -1 | c.140 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236750920 | CT | C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01261.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0003g0236 a0001c0001t0004g0069 a0001c0001t0004g0076 others(12): Show |
15 | 342 | 0.0439 | -1 | c.165 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 14/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236751089 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(66): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0142 others(66): Show |
69 | 135 | 0.5111 | -1 | c.165 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236754680 | AC | A | intron_variant | MODIFIER | HG02451.hp2 HG02717.hp1 HG02717.hp2 others(6): Show |
a0001a0005 | a0001c0003a0001c0004a0005c0017 | a0001c0003t0002a0001c0004t0005a0005c0017t0024 | a0001c0003t0002g0168 a0001c0004t0005g0057 a0001c0004t0005g0061 others(6): Show |
9 | 342 | 0.0263 | -1 | c.197 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236758289 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(130): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0182 a0001c0001t0001g0292 a0001c0001t0002g0154 others(130): Show |
133 | 320 | 0.4156 | -1 | c.230 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236758452 | AT | A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG01981.hp2 others(26): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(11): Show | a0001c0001t0004g0103 a0001c0001t0004g0120 a0001c0001t0005g0056 others(26): Show |
29 | 320 | 0.0906 | -1 | c.230 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236764703 | AG | A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG03139.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0004a0001c0003t0022a0001c0007t0004 | a0001c0001t0004g0103 a0001c0001t0004g0120 a0001c0003t0022g0094 others(1): Show |
4 | 342 | 0.0117 | -1 | c.*20 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 73 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236765120 | CA | C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG02015.hp1 HG02080.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0017a0001c0002t0002others(6): Show | a0001c0001t0001g0335 a0001c0001t0017g0098 a0001c0002t0002g0221 others(17): Show |
20 | 138 | 0.1449 | -1 | c.*25 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 490 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236766633 | TG | T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0004a0001c0003t0022a0001c0007t0004 | a0001c0001t0004g0103 a0001c0001t0004g0120 a0001c0003t0022g0094 others(2): Show |
5 | 342 | 0.0146 | -1 | c.*40 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2003 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236768415 | GT | G | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01496.hp1 HG02630.hp2 others(10): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0023 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0262 others(10): Show |
13 | 205 | 0.0634 | -1 | c.*57 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 3785 | chr1 | TogoVar | |||||||
ACTN3_chr11_66541903_66568334 | 66545206 | AT | A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(64): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0004others(5): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 others(29): Show |
67 | 398 | 0.1683 | -1 | c.-17 others(6): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 1696 | chr11 | TogoVar | |||||||
ACTN3_chr11_66541903_66568334 | 66552369 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(214): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0030others(15): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(16): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(109): Show |
217 | 396 | 0.5480 | -1 | c.382 others(8): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66553853 | CA | C | intron_variant | MODIFIER | HG02523.hp1 HG02897.hp2 HG03710.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0002 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0146 others(3): Show |
6 | 311 | 0.0193 | -1 | c.383 others(8): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66554288 | AC | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(205): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0030others(14): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(97): Show |
208 | 398 | 0.5226 | -1 | c.469 others(8): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38649272 | TG | T | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01099.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0040a0001c0002t0001a0001c0004t0001others(6): Show | a0001c0001t0040g0298 a0001c0002t0001g0076 a0001c0002t0001g0226 others(24): Show |
27 | 302 | 0.0894 | -1 | c.162 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |