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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACACB_chr12_109111587_109273226 | 109157272 | G | GTTA | intron_variant | MODIFIER | HG01891.hp1 HG02071.hp2 HG02257.hp1 others(2): Show |
a0001a0002a0028 | a0001c0039a0001c0064a0001c0074others(2): Show | a0001c0039t0004a0001c0064t0009a0001c0074t0004others(2): Show | a0001c0039t0004g0116 a0001c0064t0009g0184 a0001c0074t0004g0229 others(2): Show |
5 | 58 | 0.0862 | 3 | c.654 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109169142 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(199): Show |
a0001a0002a0003others(24): Show | a0001c0002a0001c0003a0001c0004others(76): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(93): Show | a0001c0002t0001g0002 a0001c0002t0001g0035 a0001c0002t0001g0074 others(198): Show |
202 | 245 | 0.8245 | 3 | c.925 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109171013 | A | ATTT | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG02027.hp2 others(6): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0029a0002c0006others(2): Show | a0001c0002t0001a0001c0002t0021a0001c0029t0002others(4): Show | a0001c0002t0001g0074 a0001c0002t0001g0114 a0001c0002t0001g0235 others(6): Show |
9 | 164 | 0.0549 | 3 | c.926 others(18): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109181840 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(185): Show |
a0001a0002a0003others(21): Show | a0001c0002a0001c0003a0001c0012others(68): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(85): Show | a0001c0002t0001g0002 a0001c0002t0001g0074 a0001c0002t0001g0079 others(184): Show |
188 | 262 | 0.7176 | 3 | c.181 others(22): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 11/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109194183 | T | TTTG | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02572.hp2 others(9): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0003a0001c0048others(7): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0004others(8): Show | a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0003t0002g0102 others(9): Show |
12 | 304 | 0.0395 | 3 | c.248 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109206428 | C | CAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(52): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0010others(19): Show | a0001c0002t0001a0001c0003t0002a0001c0010t0001others(23): Show | a0001c0002t0001g0074 a0001c0002t0001g0079 a0001c0002t0001g0091 others(52): Show |
55 | 228 | 0.2412 | 3 | c.291 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109221894 | T | TTGG | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01261.hp2 others(37): Show |
a0001a0002a0006others(10): Show | a0001c0002a0001c0003a0001c0010others(27): Show | a0001c0002t0001a0001c0003t0004a0001c0010t0009others(29): Show | a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0003t0004g0075 others(37): Show |
40 | 287 | 0.1394 | 3 | c.356 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 24/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109224532 | T | TTTA | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG00741.hp2 others(36): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0003a0001c0010others(23): Show | a0001c0002t0001a0001c0003t0004a0001c0010t0001others(25): Show | a0001c0002t0001g0074 a0001c0002t0001g0079 a0001c0002t0001g0091 others(36): Show |
39 | 279 | 0.1398 | 3 | c.388 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 27/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109266905 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(79): Show |
a0001a0003a0004others(9): Show | a0001c0002a0001c0010a0001c0011others(27): Show | a0001c0002t0001a0001c0002t0021a0001c0010t0001others(28): Show | a0001c0002t0001g0002 a0001c0002t0001g0035 a0001c0002t0001g0074 others(78): Show |
82 | 151 | 0.5430 | 3 | c.*55 others(12): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 53/53 | 561 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111704688 | C | CTTT | intron_variant | MODIFIER | HG03688.hp1 HG03927.hp2 NA18950.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(6): Show |
9 | 142 | 0.0634 | 3 | c.337 others(20): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111718036 | C | CTTT | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02559.hp1 others(4): Show |
a0001a0007a0009 | a0001c0001a0007c0007a0009c0012 | a0001c0001t0001a0007c0007t0001a0009c0012t0001 | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 others(4): Show |
7 | 62 | 0.1129 | 3 | c.992 others(20): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132566296 | C | CAAA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0001a0001c0008t0001a0003c0003t0001 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0127 others(5): Show |
8 | 137 | 0.0584 | 3 | c.200 others(22): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 17/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132568801 | C | CAAA | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02258.hp2 others(13): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0126 a0001c0001t0001g0159 others(12): Show |
16 | 128 | 0.1250 | 3 | c.200 others(22): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 17/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132641546 | A | AATG | intron_variant | MODIFIER | HG02717.hp2 HG03540.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0128 |
3 | 314 | 0.0096 | 3 | c.537 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132641560 | T | TGAA | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG01081.hp1 others(34): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0001 | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 others(33): Show |
37 | 157 | 0.2357 | 3 | c.537 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132641638 | A | AGAG | intron_variant | MODIFIER | HG00673.hp2 HG02083.hp2 HG02165.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0133 a0001c0001t0002g0279 others(7): Show |
11 | 309 | 0.0356 | 3 | c.537 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132641698 | G | GGAA | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01123.hp2 others(13): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0011 | a0001c0001t0001a0001c0004t0002a0006c0011t0001 | a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0036 others(13): Show |
16 | 267 | 0.0599 | 3 | c.537 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132641701 | A | AGAG | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp2 HG01106.hp2 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0006t0004a0002c0002t0001others(5): Show | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0006t0004g0177 others(31): Show |
37 | 314 | 0.1178 | 3 | c.537 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACAD9_chr3_128874620_128918114 | 128895720 | T | TCTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(264): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(15): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 others(190): Show |
267 | 370 | 0.7216 | 3 | c.453 others(18): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210221069 | T | TAAC | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0133 others(4): Show |
9 | 272 | 0.0331 | 3 | c.78- others(16): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACADM_chr1_75719709_75768679 | 75725263 | A | ACCT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(4): Show | a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 others(65): Show |
68 | 337 | 0.2018 | 3 | c.30+ others(16): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75725417 | G | GTTA | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0228 a0001c0001t0002g0229 others(4): Show |
8 | 362 | 0.0221 | 3 | c.30+ others(16): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75726366 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(201): Show |
212 | 216 | 0.9815 | 3 | c.30+ others(18): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75729455 | G | GTTT | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01192.hp2 others(30): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 others(30): Show |
33 | 188 | 0.1755 | 3 | c.118 others(18): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75729885 | A | ATTT | intron_variant | MODIFIER | HG01074.hp1 HG02145.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0250 others(4): Show |
7 | 180 | 0.0389 | 3 | c.118 others(20): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75735319 | C | CAAA | intron_variant | MODIFIER | HG02074.hp1 HG02074.hp2 HG04199.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 others(5): Show |
8 | 158 | 0.0506 | 3 | c.468 others(18): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75737279 | A | AATT | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0253 |
3 | 103 | 0.0291 | 3 | c.468 others(20): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75738223 | G | GTTA | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00733.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 others(59): Show |
62 | 362 | 0.1713 | 3 | c.469 others(20): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75760264 | C | CAAA | intron_variant | MODIFIER | HG02135.hp2 HG02300.hp1 HG03491.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0058 others(5): Show |
8 | 213 | 0.0376 | 3 | c.946 others(18): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75760544 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01081.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(39): Show |
42 | 63 | 0.6667 | 3 | c.946 others(18): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75767339 | C | CTTT | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02738.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0253 a0001c0001t0002g0010 a0001c0001t0002g0230 others(4): Show |
7 | 200 | 0.0350 | 3 | c.*45 others(14): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 3661 | chr1 | TogoVar | |||||||
ACADSB_chr10_123004006_123063290 | 123045157 | A | ATTT | intron_variant | MODIFIER | HG00741.hp1 NA18941.hp2 NA18947.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007a0001c0002t0028 | a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0007g0069 others(1): Show |
5 | 343 | 0.0146 | 3 | c.900 others(18): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123045161 | A | ATTT | intron_variant | MODIFIER | HG03654.hp2 HG03688.hp1 NA19077.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0012 a0001c0002t0002g0261 a0001c0002t0008g0076 |
3 | 325 | 0.0092 | 3 | c.900 others(18): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123045165 | A | ATTT | intron_variant | MODIFIER | HG03017.hp2 HG03688.hp2 HG03831.hp1 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0002a0001c0002t0008a0001c0017t0002 | a0001c0002t0002g0121 a0001c0002t0008g0001 a0001c0017t0002g0012 |
3 | 285 | 0.0105 | 3 | c.900 others(18): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACADS_chr12_120720826_120745008 | 120734753 | A | ATTT | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00738.hp1 others(78): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0004a0002c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0040 others(54): Show |
81 | 285 | 0.2842 | 3 | c.211 others(20): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88819600 | C | CAAA | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01192.hp1 others(13): Show |
a0001a0002a0009others(12): Show | a0001c0001a0002c0010a0009c0007others(12): Show | a0001c0001t0001a0002c0010t0001a0009c0007t0001others(12): Show | a0001c0001t0001g0360 a0002c0010t0001g0096 a0009c0007t0001g0066 others(12): Show |
16 | 117 | 0.1368 | 3 | c.-8+ others(20): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88829118 | T | TTTA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(160): Show |
a0001a0002a0003others(57): Show | a0001c0001a0001c0009a0001c0014others(92): Show | a0001c0001t0001a0001c0009t0001a0001c0014t0001others(98): Show | a0001c0001t0001g0026 a0001c0001t0001g0101 a0001c0001t0001g0116 others(156): Show |
163 | 366 | 0.4454 | 3 | c.-7- others(18): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88832106 | T | TTTG | intron_variant | MODIFIER | HG03710.hp2 HG03942.hp1 HG04199.hp1 others(4): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0002a0005c0006others(4): Show | a0001c0001t0001a0003c0002t0001a0005c0006t0001others(4): Show | a0001c0001t0001g0360 a0003c0002t0001g0092 a0005c0006t0001g0332 others(4): Show |
7 | 366 | 0.0191 | 3 | c.-7- others(18): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
ACAN_chr15_88798436_88880353 | 88833735 | T | TCTC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(228): Show |
a0001a0002a0003others(77): Show | a0001c0001a0001c0009a0001c0014others(124): Show | a0001c0001t0001a0001c0009t0001a0001c0014t0001others(133): Show | a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0101 others(224): Show |
231 | 365 | 0.6329 | 3 | c.-7- others(18): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88840786 | T | TAAA | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(13): Show |
a0010a0013a0018others(7): Show | a0010c0011a0013c0020a0018c0016others(8): Show | a0010c0011t0001a0013c0020t0001a0018c0016t0001others(9): Show | a0010c0011t0001g0004 a0010c0011t0001g0262 a0010c0011t0001g0323 others(12): Show |
16 | 197 | 0.0812 | 3 | c.629 others(18): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88868052 | G | GGCA | intron_variant | MODIFIER | HG02109.hp2 HG02965.hp2 HG03139.hp2 others(1): Show |
a0012a0018a0023 | a0012c0040a0018c0016a0023c0022 | a0012c0040t0001a0018c0016t0001a0023c0022t0001 | a0012c0040t0001g0047 a0018c0016t0001g0145 a0023c0022t0001g0157 others(1): Show |
4 | 366 | 0.0109 | 3 | c.694 others(20): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195277793 | C | CAAT | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG02109.hp1 HG02615.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011a0001c0001t0034 | a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0093 others(13): Show |
16 | 322 | 0.0497 | 3 | c.*15 others(14): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 23/23 | 1534 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195290853 | A | AAAT | intron_variant | MODIFIER | HG00408.hp1 HG03209.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0097 |
3 | 309 | 0.0097 | 3 | c.206 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195292921 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(92): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0146 a0001c0001t0001g0175 a0001c0001t0001g0177 others(92): Show |
95 | 168 | 0.5655 | 3 | c.176 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195294609 | T | TATA | intron_variant | MODIFIER | HG02129.hp1 HG02280.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0024 | a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0007g0315 others(1): Show |
4 | 260 | 0.0154 | 3 | c.176 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195337446 | C | CTTT | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0013 | a0001c0001t0002g0006 a0001c0001t0002g0119 a0001c0001t0002g0285 others(4): Show |
7 | 60 | 0.1167 | 3 | c.529 others(18): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 6/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195341321 | G | GTTT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0216 others(50): Show |
53 | 100 | 0.5300 | 3 | c.528 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 6/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195348055 | T | TAAA | intron_variant | MODIFIER | HG02129.hp2 HG02615.hp1 NA18906.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0028others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0226 a0001c0001t0001g0230 others(6): Show |
9 | 213 | 0.0423 | 3 | c.286 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195353080 | T | TAAA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(94): Show |
97 | 287 | 0.3380 | 3 | c.286 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195355281 | C | CTTT | intron_variant | MODIFIER | HG01175.hp1 HG01433.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0245 a0001c0001t0002g0006 a0001c0001t0002g0119 others(7): Show |
10 | 29 | 0.3448 | 3 | c.286 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar |