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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AK5_chr1_77277019_77564966 | 77463570 | T | TAAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(92): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(92): Show |
95 | 101 | 0.9406 | 3 | c.106 others(24): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77469636 | C | CGCT | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp2 HG02615.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0003t0004a0001c0009t0004others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0003t0004g0236 others(4): Show |
7 | 282 | 0.0248 | 3 | c.106 others(24): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77475418 | C | CATA | intron_variant | MODIFIER | HG01169.hp2 HG02145.hp2 HG02257.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0002others(1): Show | a0001c0001t0001g0064 a0001c0001t0007g0125 a0002c0002t0002g0065 others(3): Show |
6 | 170 | 0.0353 | 3 | c.106 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | chr1 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77482770 | C | CAAA | intron_variant | MODIFIER | HG00621.hp2 HG01515.hp2 HG01517.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0017a0002c0002t0002others(2): Show | a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0201 others(6): Show |
9 | 130 | 0.0692 | 3 | c.106 others(20): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77483967 | C | CCAG | intron_variant | MODIFIER | HG00621.hp2 HG01515.hp2 HG01517.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0017a0002c0002t0002others(3): Show | a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0108 others(8): Show |
11 | 282 | 0.0390 | 3 | c.110 others(20): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77491304 | A | ATTT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(92): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0057 others(92): Show |
95 | 100 | 0.9500 | 3 | c.114 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77547271 | C | CTTT | intron_variant | MODIFIER | HG00438.hp1 HG01175.hp2 HG01361.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0057 others(12): Show |
15 | 119 | 0.1261 | 3 | c.162 others(24): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77558660 | C | CTAT | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(168): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(168): Show |
171 | 282 | 0.6064 | 3 | c.168 others(12): Show |
p.Ile others(6): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 14/14 | 1979/3280 | 1684/1689 | 562/562 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
AK5_chr1_77277019_77564966 | 77559124 | G | GCAT | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0007 | a0001c0001t0007g0106 a0001c0001t0007g0125 a0001c0001t0007g0213 others(3): Show |
6 | 282 | 0.0213 | 3 | c.*45 others(12): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 14/14 | 459 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77559516 | T | TATA | 3_prime_UTR_variant | MODIFIER | NA18960.hp2 NA18984.hp2 NA18994.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0026a0002c0004t0018 | a0002c0002t0026g0156 a0002c0004t0018g0251 a0002c0004t0018g0256 |
3 | 282 | 0.0106 | 3 | c.*84 others(12): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 14/14 | 852 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77561525 | C | CTTT | downstream_gene_variant | MODIFIER | HG01952.hp2 HG02738.hp2 HG02809.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0024others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0057 others(7): Show |
10 | 103 | 0.0971 | 3 | c.*28 others(14): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 1560 | chr1 | TogoVar | |||||||
AK6_chr5_69345984_69374520 | 69346408 | C | CTTT | downstream_gene_variant | MODIFIER | HG01433.hp2 HG01952.hp1 HG02074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0058 a0001c0001t0001g0161 |
6 | 207 | 0.0290 | 3 | c.*56 others(14): Show |
AK6 | ENSG00000085231.14 | transcript | ENST00000380822.9 | protein_coding | 4575 | chr5 | TogoVar | |||||||
AK6_chr5_69345984_69374520 | 69348842 | C | CTTT | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00621.hp1 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(19): Show |
35 | 253 | 0.1383 | 3 | c.*32 others(14): Show |
AK6 | ENSG00000085231.14 | transcript | ENST00000380822.9 | protein_coding | 2141 | chr5 | TogoVar | |||||||
AK6_chr5_69345984_69374520 | 69367504 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG02056.hp1 NA18612.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0086 a0001c0001t0001g0129 others(1): Show |
6 | 275 | 0.0218 | 3 | c.29- others(16): Show |
AK6 | ENSG00000085231.14 | transcript | ENST00000380822.9 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
AK7_chr14_96387128_96494427 | 96395800 | A | ATTT | intron_variant | MODIFIER | HG00735.hp2 HG02257.hp2 HG03688.hp2 others(3): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0012 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0278 others(3): Show |
6 | 95 | 0.0632 | 3 | c.106 others(20): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96414757 | C | CTTT | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp1 NA18957.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0001g0125 a0001c0001t0001g0247 others(5): Show |
8 | 104 | 0.0769 | 3 | c.498 others(20): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96419785 | T | TTTC | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02280.hp1 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0001g0250 others(12): Show |
15 | 314 | 0.0478 | 3 | c.499 others(20): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96425480 | A | ATTT | intron_variant | MODIFIER | HG00733.hp1 HG01070.hp2 HG01099.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0087 others(44): Show |
47 | 74 | 0.6351 | 3 | c.609 others(20): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96464544 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01109.hp1 others(35): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0072 a0001c0001t0001g0091 others(35): Show |
38 | 79 | 0.4810 | 3 | c.135 others(22): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96464709 | C | CTAT | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01256.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0144 |
3 | 314 | 0.0096 | 3 | c.135 others(22): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96468296 | C | CTTT | intron_variant | MODIFIER | HG02630.hp1 HG02698.hp2 HG02723.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0014 | a0001c0001t0001a0001c0001t0002a0002c0014t0003 | a0001c0001t0001g0197 a0001c0001t0001g0304 a0001c0001t0001g0313 others(6): Show |
9 | 213 | 0.0423 | 3 | c.135 others(22): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132814278 | C | CAAA | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG02647.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0177 others(3): Show |
6 | 45 | 0.1333 | 3 | c.979 others(18): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 10/12 | chr9 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132839820 | C | CGGG | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00558.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0002c0002t0001a0003c0005t0001 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 others(27): Show |
30 | 173 | 0.1734 | 3 | c.403 others(22): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 5/12 | chr9 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132848906 | C | CTTT | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG03516.hp1 others(2): Show |
a0002a0007 | a0002c0002a0007c0006 | a0002c0002t0001a0007c0006t0001 | a0002c0002t0001g0002 a0002c0002t0001g0027 a0002c0002t0001g0030 others(2): Show |
5 | 165 | 0.0303 | 3 | c.402 others(20): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 5/12 | chr9 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109547846 | C | CAAA | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02572.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 a0002c0002t0001g0067 a0002c0002t0001g0069 others(4): Show |
7 | 75 | 0.0933 | 3 | c.296 others(22): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 25/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109559167 | G | GTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(217): Show |
a0001a0003a0004others(5): Show | a0001c0003a0001c0004a0001c0006others(13): Show | a0001c0003t0001a0001c0004t0001a0001c0006t0003others(14): Show | a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 others(215): Show |
220 | 287 | 0.7666 | 3 | c.275 others(22): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 24/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109576420 | C | CTTT | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01934.hp2 others(34): Show |
a0004a0014a0019 | a0004c0005a0014c0019a0019c0020 | a0004c0005t0001a0014c0019t0001a0019c0020t0001 | a0004c0005t0001g0001 a0004c0005t0001g0254 a0004c0005t0001g0255 others(33): Show |
37 | 86 | 0.4302 | 3 | c.219 others(22): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 20/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109592446 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(120): Show |
a0001a0008 | a0001c0003a0001c0004a0001c0006others(1): Show | a0001c0003t0001a0001c0004t0001a0001c0006t0003others(1): Show | a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 others(120): Show |
123 | 266 | 0.4624 | 3 | c.184 others(22): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 17/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109595548 | A | ACAT | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp2 HG02148.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0263 a0004c0005t0001g0267 a0004c0005t0001g0280 |
3 | 376 | 0.0080 | 3 | c.184 others(22): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 17/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109622526 | C | CATT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(340): Show |
a0001a0002a0003others(16): Show | a0001c0003a0001c0004a0001c0006others(28): Show | a0001c0003t0001a0001c0004t0001a0001c0006t0003others(30): Show | a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 others(337): Show |
343 | 376 | 0.9122 | 3 | c.125 others(22): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 12/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109653682 | T | TCTC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(258): Show |
a0001a0003a0004others(6): Show | a0001c0003a0001c0004a0001c0006others(14): Show | a0001c0003t0001a0001c0004t0001a0001c0006t0003others(15): Show | a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 others(255): Show |
261 | 371 | 0.7035 | 3 | c.759 others(20): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 8/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109685657 | C | CCAT | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA19240.hp2 |
a0009 | a0009c0012 | a0009c0012t0004 | a0009c0012t0004g0144 a0009c0012t0004g0145 a0009c0012t0004g0291 |
3 | 376 | 0.0080 | 3 | c.-12 others(20): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 1/40 | chr6 | TogoVar | |||||||
AKAIN1_chr18_5137911_5202257 | 5141212 | C | CTTT | downstream_gene_variant | MODIFIER | HG02129.hp1 NA18943.hp1 NA18944.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0079 a0001c0001t0004g0108 a0001c0001t0004g0159 others(3): Show |
6 | 150 | 0.0400 | 3 | c.*43 others(14): Show |
AKAIN1 | ENSG00000231824.4 | transcript | ENST00000434239.4 | protein_coding | 1698 | chr18 | TogoVar | |||||||
AKAIN1_chr18_5137911_5202257 | 5199863 | G | GAAA | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02451.hp2 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0023others(3): Show | a0001c0001t0001g0065 a0001c0001t0014g0038 a0001c0001t0014g0039 others(4): Show |
7 | 40 | 0.1750 | 3 | c.-28 others(14): Show |
AKAIN1 | ENSG00000231824.4 | transcript | ENST00000434239.4 | protein_coding | 2607 | chr18 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19911835 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG01952.hp1 HG01981.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0015others(1): Show | a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0022 others(11): Show |
14 | 31 | 0.4516 | 3 | c.183 others(22): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 12/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19928528 | T | TTAA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG02083.hp2 others(16): Show |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0008a0003c0003t0023 | a0003c0003t0005g0233 a0003c0003t0005g0238 a0003c0003t0005g0239 others(16): Show |
19 | 276 | 0.0688 | 3 | c.164 others(22): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 10/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19932449 | T | TAAA | intron_variant | MODIFIER | HG02027.hp2 HG02074.hp2 HG02148.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0014 | a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0035 others(3): Show |
6 | 204 | 0.0294 | 3 | c.146 others(20): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 9/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19961254 | T | TGAG | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG02083.hp2 others(17): Show |
a0001a0003 | a0001c0006a0003c0003 | a0001c0006t0022a0003c0003t0005a0003c0003t0008others(1): Show | a0001c0006t0022g0055 a0003c0003t0005g0233 a0003c0003t0005g0238 others(17): Show |
20 | 276 | 0.0725 | 3 | c.319 others(20): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 3/14 | chr17 | TogoVar | |||||||
AKAP12_chr6_151234967_151363559 | 151239116 | C | CTTT | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02572.hp2 others(7): Show |
a0001a0002a0004others(3): Show | a0001c0002a0002c0001a0004c0006others(4): Show | a0001c0002t0001a0002c0001t0002a0002c0001t0013others(5): Show | a0001c0002t0001g0179 a0002c0001t0002g0182 a0002c0001t0013g0167 others(7): Show |
10 | 208 | 0.0481 | 3 | c.-11 others(14): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 850 | chr6 | TogoVar | |||||||
AKAP12_chr6_151234967_151363559 | 151248267 | A | ATTT | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01433.hp2 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0011a0002c0001others(6): Show | a0001c0002t0001a0001c0011t0001a0002c0001t0002others(7): Show | a0001c0002t0001g0205 a0001c0002t0001g0239 a0001c0011t0001g0260 others(11): Show |
14 | 122 | 0.1148 | 3 | c.162 others(20): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151267014 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(47): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0011others(15): Show | a0001c0002t0001a0001c0002t0014a0001c0002t0015others(23): Show | a0001c0002t0001g0021 a0001c0002t0001g0064 a0001c0002t0001g0163 others(47): Show |
50 | 197 | 0.2538 | 3 | c.162 others(22): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151268945 | G | GTTT | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01169.hp1 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0011others(9): Show | a0001c0002t0001a0001c0003t0001a0001c0011t0032others(11): Show | a0001c0002t0001g0056 a0001c0002t0001g0205 a0001c0002t0001g0226 others(16): Show |
19 | 42 | 0.4524 | 3 | c.162 others(22): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151297019 | G | GTTT | intron_variant | MODIFIER | HG00639.hp2 HG01981.hp2 HG02257.hp2 others(7): Show |
a0001a0003a0004others(4): Show | a0001c0003a0001c0067a0003c0004others(6): Show | a0001c0003t0001a0001c0067t0001a0003c0004t0003others(7): Show | a0001c0003t0001g0102 a0001c0067t0001g0088 a0003c0004t0003g0103 others(7): Show |
10 | 118 | 0.0847 | 3 | c.163 others(20): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151312847 | T | TCGG | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG02083.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0002 | a0001c0002t0001g0194 a0002c0001t0002g0059 a0002c0001t0002g0273 |
3 | 314 | 0.0096 | 3 | c.319 others(20): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151321903 | G | GTTT | intron_variant | MODIFIER | HG01123.hp1 HG01169.hp2 HG02109.hp2 others(14): Show |
a0002a0004a0005others(3): Show | a0002c0001a0002c0005a0004c0006others(6): Show | a0002c0001t0002a0002c0001t0012a0002c0005t0013others(7): Show | a0002c0001t0002g0083 a0002c0001t0002g0084 a0002c0001t0012g0172 others(14): Show |
17 | 190 | 0.0895 | 3 | c.319 others(22): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151327118 | A | ATTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(92): Show |
a0001a0002a0003others(16): Show | a0001c0002a0001c0055a0001c0067others(24): Show | a0001c0002t0001a0001c0002t0019a0001c0055t0001others(40): Show | a0001c0002t0001g0155 a0001c0002t0001g0215 a0001c0002t0001g0225 others(92): Show |
95 | 181 | 0.5249 | 3 | c.319 others(22): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151328327 | C | CAAA | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp2 HG01175.hp1 others(43): Show |
a0001a0003a0004others(10): Show | a0001c0002a0003c0004a0004c0006others(15): Show | a0001c0002t0001a0003c0004t0003a0004c0006t0001others(21): Show | a0001c0002t0001g0100 a0003c0004t0003g0008 a0004c0006t0001g0012 others(43): Show |
46 | 244 | 0.1885 | 3 | c.320 others(22): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151331884 | C | CAAA | intron_variant | MODIFIER | HG00597.hp1 HG01168.hp2 HG01358.hp1 others(21): Show |
a0001a0002a0003others(6): Show | a0001c0053a0002c0001a0002c0005others(11): Show | a0001c0053t0018a0002c0001t0002a0002c0001t0005others(12): Show | a0001c0053t0018g0196 a0002c0001t0002g0023 a0002c0001t0002g0028 others(21): Show |
24 | 119 | 0.2017 | 3 | c.320 others(22): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151340782 | C | CCTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
a0001a0002a0003others(22): Show | a0001c0002a0002c0001a0002c0005others(37): Show | a0001c0002t0001a0002c0001t0002a0002c0001t0005others(62): Show | a0001c0002t0001g0215 a0002c0001t0002g0018 a0002c0001t0002g0023 others(157): Show |
160 | 314 | 0.5096 | 3 | c.320 others(20): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151352981 | T | TGAG | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(219): Show |
a0001a0003a0004others(24): Show | a0001c0002a0001c0003a0001c0011others(54): Show | a0001c0002t0001a0001c0002t0014a0001c0002t0015others(80): Show | a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0050 others(219): Show |
222 | 314 | 0.7070 | 3 | c.459 others(12): Show |
p.Glu others(7): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 4868/8466 | 4596/5349 | 1532/1782 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |