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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGR2_chr7_16786811_16809999 | 16791067 | G | GAGAGGGG others(2): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 NA18947.hp1 NA18974.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0095 others(1): Show |
4 | 450 | 0.0089 | 9 | c.*18 others(20): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 743 | chr7 | TogoVar | |||||||
AGR3_chr7_16854412_16886983 | 16854435 | A | AAACAATG others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(414): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(274): Show |
417 | 443 | 0.9413 | 9 | c.*51 others(20): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 4976 | chr7 | TogoVar | |||||||
AGR3_chr7_16854412_16886983 | 16854435 | A | AAACAGTG others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02622.hp2 HG02717.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0128 others(9): Show |
12 | 38 | 0.3158 | 9 | c.*51 others(20): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 4976 | chr7 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85566529 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01891.hp1 HG02451.hp1 others(12): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0083 a0001c0001t0001g0084 others(12): Show |
15 | 89 | 0.1685 | 9 | c.350 others(28): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35041223 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(103): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0002c0002others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(21): Show | a0001c0001t0001g0016 a0001c0003t0001g0028 a0001c0003t0001g0049 others(97): Show |
106 | 119 | 0.8908 | 9 | c.89- others(22): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35041223 | C | CGAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01099.hp1 HG01192.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0021a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 others(16): Show |
19 | 32 | 0.5938 | 9 | c.89- others(22): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240880574 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(20): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0016 | a0001c0001t0002a0001c0001t0018a0001c0002t0002others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0021 others(9): Show |
23 | 155 | 0.1484 | 9 | c.*17 others(20): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 75 | chr2 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129324059 | C | CGTAGATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(250): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 others(250): Show |
253 | 290 | 0.8724 | 9 | c.364 others(28): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27531094 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02922.hp1 HG02922.hp2 others(3): Show |
a0003 | a0003c0004a0003c0009 | a0003c0004t0001a0003c0004t0004a0003c0009t0001 | a0003c0004t0001g0061 a0003c0004t0001g0074 a0003c0004t0001g0075 others(3): Show |
6 | 165 | 0.0364 | 9 | c.*38 others(20): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3150 | chr1 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135383226 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp2 others(65): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0004a0004c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0053 others(65): Show |
68 | 129 | 0.5271 | 9 | c.310 others(30): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135472018 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01175.hp1 others(8): Show |
a0001a0011 | a0001c0001a0011c0020 | a0001c0001t0001a0011c0020t0004 | a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0124 others(8): Show |
11 | 31 | 0.3548 | 9 | c.136 others(26): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHSA1_chr14_77453093_77474472 | 77468721 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01981.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0001a0001c0004t0001a0001c0007t0001 | a0001c0002t0001g0013 a0001c0002t0001g0134 a0001c0004t0001g0019 others(1): Show |
9 | 58 | 0.1552 | 9 | c.844 others(24): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143331846 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02258.hp2 HG02970.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(1): Show | a0001c0001t0001g0116 a0001c0001t0001g0177 a0001c0001t0004g0076 others(6): Show |
9 | 57 | 0.1579 | 9 | c.516 others(26): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44303440 | A | AGACTTGA others(2): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00733.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0002others(9): Show | a0001c0001t0001g0167 a0001c0003t0002g0003 a0001c0003t0002g0004 others(24): Show |
43 | 421 | 0.1021 | 9 | c.*57 others(20): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4793 | chr21 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4651882 | C | CAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(55): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(51): Show | a0001c0001t0001g0285 a0001c0001t0003g0001 a0001c0001t0004g0206 others(55): Show |
58 | 143 | 0.4056 | 9 | c.-35 others(20): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2726 | chr1 | TogoVar | |||||||
AK2_chr1_33002986_33041883 | 33036895 | G | GCACGCAC others(2): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0235 |
3 | 348 | 0.0086 | 9 | c.-76 others(16): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 13 | chr1 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65215160 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0009a0002c0004t0009a0002c0004t0055 | a0001c0001t0009g0263 a0001c0001t0009g0265 a0002c0004t0009g0206 others(2): Show |
5 | 297 | 0.0168 | 9 | c.266 others(26): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367703 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01099.hp2 HG01192.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0170 others(5): Show |
8 | 282 | 0.0284 | 9 | c.891 others(28): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367770 | G | GTTATATA others(2): Show |
intron_variant | MODIFIER | HG02895.hp2 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008 | a0002c0002t0002g0279 a0002c0002t0008g0278 |
2 | 280 | 0.0071 | 9 | c.891 others(28): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77387935 | A | AACCATTA others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02922.hp1 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0012 | a0001c0001t0001g0004 a0002c0002t0002g0002 a0002c0002t0002g0143 others(1): Show |
4 | 282 | 0.0142 | 9 | c.892 others(28): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77406704 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01934.hp2 HG01978.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(1): Show | a0001c0001t0001g0047 a0001c0001t0004g0022 a0001c0001t0004g0029 others(7): Show |
10 | 264 | 0.0379 | 9 | c.892 others(26): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | chr1 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132848115 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0121 a0001c0001t0001g0123 others(32): Show |
35 | 169 | 0.2071 | 9 | c.402 others(26): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 5/12 | chr9 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109549664 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(64): Show |
a0003a0004a0007others(1): Show | a0003c0001a0003c0016a0003c0025others(5): Show | a0003c0001t0001a0003c0001t0002a0003c0016t0002others(6): Show | a0003c0001t0001g0290 a0003c0001t0002g0002 a0003c0001t0002g0003 others(62): Show |
67 | 174 | 0.3851 | 9 | c.296 others(26): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 25/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109682426 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02723.hp2 HG02895.hp1 others(5): Show |
a0002a0009 | a0002c0002a0002c0007a0009c0012 | a0002c0002t0002a0002c0007t0002a0009c0012t0004 | a0002c0002t0002g0111 a0002c0002t0002g0120 a0002c0002t0002g0132 others(5): Show |
8 | 231 | 0.0346 | 9 | c.-11 others(26): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 1/40 | chr6 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19910325 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006 | a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0183 others(40): Show |
43 | 181 | 0.2376 | 9 | c.183 others(26): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 12/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19946166 | A | AATATATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01070.hp1 others(47): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0051 a0001c0001t0002g0006 a0001c0001t0002g0009 others(45): Show |
50 | 276 | 0.1812 | 9 | c.976 others(26): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 5/14 | chr17 | TogoVar | |||||||
AKAP12_chr6_151234967_151363559 | 151304488 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01106.hp2 others(20): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0012others(9): Show | a0001c0002t0001a0001c0003t0001a0001c0012t0019others(11): Show | a0001c0002t0001g0064 a0001c0002t0001g0100 a0001c0002t0001g0283 others(20): Show |
23 | 40 | 0.5750 | 9 | c.163 others(26): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151332031 | C | CTGTTGTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp2 others(43): Show |
a0002a0003a0004others(10): Show | a0002c0001a0002c0005a0002c0035others(17): Show | a0002c0001t0002a0002c0001t0010a0002c0001t0012others(25): Show | a0002c0001t0002g0043 a0002c0001t0002g0055 a0002c0001t0002g0133 others(43): Show |
46 | 314 | 0.1465 | 9 | c.320 others(28): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151337512 | G | GGAAAAAA others(2): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03453.hp1 NA18906.hp2 |
a0007 | a0007c0021a0007c0030 | a0007c0021t0048a0007c0030t0016 | a0007c0021t0048g0019 a0007c0030t0016g0017 a0007c0030t0016g0114 |
3 | 266 | 0.0113 | 9 | c.320 others(28): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
AKAP12_chr6_151234967_151363559 | 151337524 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01169.hp2 HG01175.hp1 others(33): Show |
a0003a0004a0005others(9): Show | a0003c0004a0004c0006a0004c0009others(11): Show | a0003c0004t0003a0004c0006t0001a0004c0006t0027others(16): Show | a0003c0004t0003g0103 a0004c0006t0001g0035 a0004c0006t0001g0039 others(33): Show |
36 | 174 | 0.2069 | 9 | c.320 others(28): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151337524 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(85): Show |
a0002a0007a0010others(8): Show | a0002c0001a0002c0005a0002c0035others(13): Show | a0002c0001t0002a0002c0001t0005a0002c0001t0010others(30): Show | a0002c0001t0002g0018 a0002c0001t0002g0023 a0002c0001t0002g0025 others(85): Show |
88 | 226 | 0.3894 | 9 | c.320 others(28): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85483632 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG00741.hp2 others(16): Show |
a0001a0003a0004others(5): Show | a0001c0002a0001c0004a0003c0003others(6): Show | a0001c0002t0008a0001c0002t0027a0001c0004t0001others(11): Show | a0001c0002t0008g0284 a0001c0002t0027g0294 a0001c0004t0001g0285 others(16): Show |
19 | 189 | 0.1005 | 9 | c.-11 others(26): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85491493 | A | ATATATTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00642.hp2 others(66): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0007others(21): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(35): Show | a0001c0002t0001g0005 a0001c0002t0006g0008 a0001c0002t0006g0009 others(66): Show |
69 | 273 | 0.2527 | 9 | c.33+ others(24): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85504503 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG02135.hp1 others(4): Show |
a0002a0003a0006 | a0002c0001a0003c0003a0006c0008 | a0002c0001t0002a0002c0001t0045a0003c0003t0003others(4): Show | a0002c0001t0002g0313 a0002c0001t0045g0190 a0003c0003t0003g0116 others(4): Show |
7 | 17 | 0.4118 | 9 | c.34- others(26): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85606090 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00639.hp1 others(15): Show |
a0002a0007a0032others(1): Show | a0002c0001a0002c0017a0007c0009others(2): Show | a0002c0001t0002a0002c0001t0007a0002c0001t0044others(5): Show | a0002c0001t0002g0049 a0002c0001t0002g0144 a0002c0001t0002g0155 others(15): Show |
18 | 123 | 0.1463 | 9 | c.416 others(30): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1596524 | A | ATTCCTCC others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0014a0002c0002t0015 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | 149 | 0.0403 | 9 | c.911 others(24): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1596581 | C | CTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG02970.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0068 a0002c0003t0002g0013 a0002c0003t0002g0070 others(1): Show |
5 | 143 | 0.0350 | 9 | c.911 others(26): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1596628 | C | CTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18942.hp2 |
a0001a0002 | a0001c0010a0002c0002 | a0001c0010t0003a0002c0002t0002 | a0001c0010t0003g0104 a0002c0002t0002g0001 |
2 | 149 | 0.0134 | 9 | c.911 others(26): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1596675 | C | CTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02080.hp2 NA18947.hp2 |
a0001a0002 | a0001c0004a0002c0002a0002c0003 | a0001c0004t0010a0002c0002t0002a0002c0003t0002 | a0001c0004t0010g0062 a0002c0002t0002g0033 a0002c0003t0002g0059 |
3 | 141 | 0.0213 | 9 | c.911 others(26): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32724990 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01978.hp1 others(6): Show |
a0002a0003a0005others(4): Show | a0002c0003a0002c0057a0003c0009others(5): Show | a0002c0003t0002a0002c0057t0026a0003c0009t0009others(5): Show | a0002c0003t0002g0096 a0002c0057t0026g0003 a0003c0009t0009g0092 others(6): Show |
9 | 42 | 0.2143 | 9 | c.300 others(28): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP7_chr6_131130467_131288532 | 131135529 | G | GCTGCTGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01123.hp2 HG01884.hp1 HG02257.hp1 others(5): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0016a0002c0002t0015a0002c0002t0017others(2): Show | a0001c0001t0016g0009 a0002c0002t0015g0003 a0002c0002t0015g0004 others(5): Show |
8 | 302 | 0.0265 | 9 | c.-22 others(18): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 1/8 | 226 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131256708 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01123.hp2 others(24): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 others(24): Show |
27 | 165 | 0.1636 | 9 | c.851 others(28): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP8L_chr19_15375050_15423988 | 15395983 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(139): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(127): Show |
142 | 165 | 0.8606 | 9 | c.153 others(28): Show |
AKAP8L | ENSG00000011243.19 | transcript | ENST00000397410.10 | protein_coding | 12/13 | chr19 | TogoVar | |||||||
AKAP8_chr19_15348385_15384787 | 15353320 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG01346.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0064 others(16): Show |
19 | 79 | 0.2405 | 9 | c.*15 others(20): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 64 | chr19 | TogoVar | |||||||
AKAP8_chr19_15348385_15384787 | 15364108 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01934.hp2 HG02683.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0002g0011 others(8): Show |
12 | 44 | 0.2727 | 9 | c.116 others(28): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 9/13 | chr19 | TogoVar | |||||||
AKAP9_chr7_91935862_92115673 | 92102448 | T | TTACTACT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0088 others(20): Show |
23 | 95 | 0.2421 | 9 | c.110 others(28): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 45/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKIP1_chr11_8906189_8925079 | 8909439 | A | AAGAAGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0005a0008 | a0001c0001a0005c0005a0008c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(70): Show |
219 | 416 | 0.5264 | 9 | c.-17 others(20): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 1749 | chr11 | TogoVar | |||||||
AKIRIN1_chr1_38986276_39011059 | 38994672 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02300.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0062 a0001c0001t0001g0148 a0001c0001t0001g0180 others(2): Show |
6 | 22 | 0.2727 | 9 | c.220 others(26): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AKNAD1_chr1_108810901_108862094 | 108853136 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01515.hp2 HG01517.hp1 others(16): Show |
a0005a0006a0011others(2): Show | a0005c0011a0005c0026a0005c0031others(8): Show | a0005c0011t0011a0005c0026t0004a0005c0031t0001others(8): Show | a0005c0011t0011g0108 a0005c0026t0004g0013 a0005c0031t0001g0315 others(12): Show |
19 | 327 | 0.0581 | 9 | c.-10 others(26): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
AKR1A1_chr1_45545826_45575049 | 45549000 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 HG01258.hp2 HG02451.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0035 others(12): Show |
15 | 24 | 0.6250 | 9 | c.-21 others(20): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 1825 | chr1 | TogoVar |