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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN1_chr14_68869128_68984302 | 68932513 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01175.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0143a0001c0001t0001g0178a0001c0001t0001g0182others(40): Show | 43 | 284 | 0.1514 | -1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68933980 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01167.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0147others(29): Show | 32 | 284 | 0.1127 | -1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68935387 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0138a0001c0001t0001g0159a0001c0001t0001g0160others(73): Show | 77 | 284 | 0.2711 | -1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68936500 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp2 others(118): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0140others(117): Show | 121 | 284 | 0.4261 | -1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68940677 | TA | T | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01074.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0138a0001c0001t0001g0148a0001c0001t0001g0169others(49): Show | 52 | 284 | 0.1831 | -1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68942378 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(191): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0141others(190): Show | 194 | 284 | 0.6831 | -1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68945270 | GA | G | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0169a0001c0001t0001g0186a0001c0001t0001g0202others(14): Show | 17 | 284 | 0.0599 | -1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68948752 | AG | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0143others(79): Show | 82 | 284 | 0.2887 | -1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68953885 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG02109.hp1 others(15): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0152a0001c0001t0001g0185a0001c0001t0001g0204others(15): Show | 18 | 284 | 0.0634 | -1 | c.105 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68960748 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(119): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0148others(119): Show | 122 | 284 | 0.4296 | -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 | a0001c0001t0001g0227a0001c0001t0001g0228a0001c0001t0001g0229others(11): Show | 14 | 284 | 0.0493 | -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(108): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0018a0001c0001t0001g0103a0001c0001t0001g0114others(108): Show | 111 | 344 | 0.3227 | -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(328): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(328): Show | 331 | 344 | 0.9622 | -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(216): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0001g0103a0001c0001t0001g0145a0001c0001t0001g0146others(216): Show | 219 | 344 | 0.6366 | -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(205): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(51): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(205): Show | 208 | 344 | 0.6047 | -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 |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0018others(3): Show | a0001c0001t0004g0074a0001c0001t0004g0075a0001c0001t0004g0078others(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 | CA | C | intron_variant | MODIFIER | HG01106.hp2 HG01168.hp2 HG01169.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0015others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0033others(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 | 236695572 | CT | C | 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 | -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(276): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0006a0001c0001t0001g0041a0001c0001t0001g0103others(276): Show | 279 | 344 | 0.8111 | -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(116): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0006a0001c0001t0001g0041a0001c0001t0001g0114others(116): Show | 119 | 344 | 0.3459 | -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 | a0001c0001t0001g0317a0001c0001t0004g0078a0001c0001t0014g0084others(4): Show | 7 | 344 | 0.0204 | -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 | a0001c0001t0004g0117a0001c0001t0004g0119a0001c0001t0009g0118 | 3 | 344 | 0.0087 | -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 |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0251others(43): Show | 46 | 344 | 0.1337 | -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 |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(13): Show | a0001c0001t0003g0238a0001c0001t0003g0272a0001c0001t0003g0340others(23): Show | 26 | 344 | 0.0756 | -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(96): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0031a0001c0001t0001g0114others(96): Show | 99 | 344 | 0.2878 | -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 | a0001c0001t0001g0041a0001c0001t0001g0184a0001c0001t0001g0188others(92): Show | 95 | 344 | 0.2762 | -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 | a0001c0001t0001g0011a0001c0001t0001g0041a0001c0001t0001g0103others(169): Show | 172 | 344 | 0.5000 | -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 | a0001c0001t0001g0018a0001c0001t0001g0110a0001c0001t0003g0104others(9): Show | 12 | 344 | 0.0349 | -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 |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0041a0001c0001t0001g0103a0001c0001t0001g0184others(107): Show | 110 | 344 | 0.3198 | -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(183): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0031others(183): Show | 186 | 344 | 0.5407 | -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(311): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(53): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(311): Show | 314 | 344 | 0.9128 | -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 | a0001c0001t0001g0301a0001c0001t0012g0019a0001c0001t0012g0109others(3): Show | 6 | 344 | 0.0174 | -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 |
a0001a0003a0008 | a0001c0003a0001c0006a0001c0011others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(10): Show | a0001c0003t0001g0129a0001c0003t0001g0133a0001c0003t0002g0051others(27): Show | 30 | 344 | 0.0872 | -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(273): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(273): Show | 276 | 344 | 0.8023 | -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(278): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(278): Show | 281 | 344 | 0.8169 | -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(120): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(120): Show | 123 | 344 | 0.3576 | -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 |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0018others(172): Show | 175 | 344 | 0.5087 | -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 |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(11): Show | a0001c0001t0001g0110a0001c0001t0004g0102a0001c0001t0012g0019others(24): Show | 27 | 344 | 0.0785 | -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 | a0001c0001t0001g0041a0001c0001t0001g0139a0001c0001t0001g0141others(26): Show | 29 | 344 | 0.0843 | -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(168): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(168): Show | 171 | 344 | 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 | a0001c0001t0001g0041a0001c0001t0001g0139a0001c0001t0001g0141others(17): Show | 20 | 344 | 0.0581 | -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 | a0001c0001t0001g0018a0001c0001t0001g0103a0001c0001t0002g0156others(22): Show | 25 | 344 | 0.0727 | -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 |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(7): Show | a0001c0001t0001g0141a0001c0001t0001g0154a0001c0001t0004g0059others(15): Show | 18 | 344 | 0.0523 | -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(179): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(179): Show | 182 | 344 | 0.5291 | -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 | a0001c0001t0001g0154a0001c0001t0001g0158a0001c0001t0003g0104others(16): Show | 19 | 344 | 0.0552 | -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 | a0001c0001t0003g0238a0001c0001t0004g0069a0001c0001t0004g0075others(12): Show | 15 | 344 | 0.0436 | -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 |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0011a0001c0001t0001g0041a0001c0001t0001g0144others(66): Show | 69 | 344 | 0.2006 | -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 |
a0001a0008 | a0001c0003a0001c0004a0008c0017 | a0001c0003t0002a0001c0004t0005a0008c0017t0024 | a0001c0003t0002g0170a0001c0004t0005g0056a0001c0004t0005g0060others(6): Show | 9 | 344 | 0.0262 | -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 |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0184a0001c0001t0001g0286a0001c0001t0002g0156others(130): Show | 133 | 344 | 0.3866 | -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 | a0001c0001t0004g0102a0001c0001t0004g0119a0001c0001t0005g0055others(26): Show | 29 | 344 | 0.0843 | -1 | c.230 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |