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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOPEP_chr9_94721699_95092159 | 94765439 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00639.hp2 others(34): Show |
a0001a0003a0007 | a0001c0001a0001c0014a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0037 others(34): Show |
37 | 77 | 0.4805 | 9 | c.797 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94859027 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(121): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0015a0001c0016others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(121): Show |
124 | 149 | 0.8322 | 9 | c.136 others(30): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94895219 | T | TAATAAAA others(2): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18971.hp2 NA18991.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0118 a0005c0005t0001g0113 a0005c0005t0001g0114 others(1): Show |
4 | 165 | 0.0242 | 9 | c.136 others(30): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94906455 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02155.hp1 HG03098.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0027 a0001c0001t0002g0007 a0001c0001t0002g0017 others(9): Show |
12 | 61 | 0.1967 | 9 | c.136 others(30): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94934315 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02922.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0003a0006c0006t0003 | a0001c0001t0003g0108 a0006c0006t0003g0104 a0006c0006t0003g0106 others(2): Show |
5 | 115 | 0.0435 | 9 | c.166 others(28): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95020918 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01258.hp2 HG01515.hp1 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0071 others(17): Show |
20 | 68 | 0.2941 | 9 | c.211 others(30): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95041444 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | NA18969.hp1 NA19088.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0074 a0005c0005t0001g0117 |
2 | 48 | 0.0417 | 9 | c.211 others(30): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | chr9 | TogoVar | |||||||
AOX1_chr2_200581014_200676495 | 200657161 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(65): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0001c0019others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0002others(4): Show | a0001c0001t0001g0195 a0001c0001t0001g0356 a0001c0001t0002g0018 others(65): Show |
68 | 331 | 0.2054 | 9 | c.317 others(26): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200663596 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(93): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0027a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0124 others(92): Show |
96 | 319 | 0.3009 | 9 | c.354 others(26): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29351925 | G | GGCACAGA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG02083.hp2 others(11): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0256 a0001c0002t0001g0271 a0001c0002t0001g0274 others(11): Show |
14 | 376 | 0.0372 | 9 | c.939 others(24): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 7/22 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29370466 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02071.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0009a0001c0003t0014 | a0001c0003t0002g0037 a0001c0003t0002g0097 a0001c0003t0002g0099 others(4): Show |
7 | 367 | 0.0191 | 9 | c.-27 others(26): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71768500 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02257.hp1 others(16): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(5): Show | a0001c0001t0002g0298 a0001c0001t0005g0043 a0001c0001t0016g0041 others(16): Show |
19 | 51 | 0.3725 | 9 | c.642 others(26): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 6/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71782466 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02486.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023 | a0001c0001t0005g0093 a0001c0001t0005g0112 a0001c0001t0005g0114 others(8): Show |
11 | 257 | 0.0428 | 9 | c.201 others(26): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 2/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01168.hp1 HG01169.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0005g0122 a0001c0001t0007g0071 a0001c0001t0007g0073 others(15): Show |
18 | 74 | 0.2432 | 9 | c.-3- others(24): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGCG others(2): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19002.hp2 NA19007.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0001a0001c0002t0015 | a0001c0001t0008g0251 a0001c0002t0001g0149 a0001c0002t0001g0156 others(1): Show |
4 | 249 | 0.0161 | 9 | c.546 others(26): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16244882 | T | TTTGTTGT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01358.hp1 NA18955.hp2 NA18971.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0001t0108a0001c0001t0115others(1): Show | a0001c0001t0033g0222 a0001c0001t0033g0233 a0001c0001t0108g0264 others(2): Show |
5 | 53 | 0.0943 | 9 | c.*10 others(22): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10481 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16244882 | T | TTTTTTGT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01346.hp2 HG01433.hp2 HG02145.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0009a0001c0001t0040others(13): Show | a0001c0001t0007g0002 a0001c0001t0007g0006 a0001c0001t0009g0017 others(20): Show |
28 | 76 | 0.3684 | 9 | c.*10 others(22): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10450 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16250325 | T | TGTGTGTG others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG03927.hp2 HG04204.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0127a0001c0002t0001a0001c0002t0004 | a0001c0001t0127g0221 a0001c0002t0001g0121 a0001c0002t0004g0153 |
3 | 303 | 0.0099 | 9 | c.*15 others(22): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4420 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0193 a0001c0001t0001g0279 a0001c0001t0001g0282 others(32): Show |
39 | 47 | 0.8298 | 9 | c.*25 others(20): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03704.hp2 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0109 a0001c0001t0001g0122 |
3 | 256 | 0.0117 | 9 | c.427 others(26): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP2A1_chr19_49762001_49812114 | 49772254 | T | TTTTGTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG02055.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0002g0048 others(8): Show |
11 | 338 | 0.0325 | 9 | c.67+ others(24): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35707134 | C | CTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0293 others(3): Show |
6 | 234 | 0.0256 | 9 | c.245 others(28): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720574 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01515.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0355 a0001c0001t0005g0003 a0001c0001t0005g0136 others(1): Show |
4 | 349 | 0.0115 | 9 | c.278 others(28): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78059555 | A | ACTCAGCT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0032 others(101): Show |
104 | 224 | 0.4643 | 9 | c.257 others(30): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78184686 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0077 a0001c0004t0002g0001 a0001c0004t0002g0002 others(3): Show |
6 | 173 | 0.0347 | 9 | c.787 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78229570 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02280.hp1 HG02451.hp1 others(6): Show |
a0001a0007 | a0001c0005a0007c0013 | a0001c0005t0001a0001c0005t0002a0007c0013t0002 | a0001c0005t0001g0195 a0001c0005t0002g0187 a0001c0005t0002g0188 others(6): Show |
9 | 191 | 0.0471 | 9 | c.280 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78298993 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01168.hp1 HG01168.hp2 others(36): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0197 a0001c0001t0001g0198 others(36): Show |
39 | 138 | 0.2826 | 9 | c.-44 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 4296 | chr5 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42166591 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01258.hp2 HG01891.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0003g0011 a0001c0001t0003g0146 a0001c0001t0003g0147 others(10): Show |
19 | 190 | 0.1000 | 9 | c.804 others(24): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115839322 | T | TGCATGCA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(137): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(124): Show |
140 | 336 | 0.4167 | 9 | c.-27 others(20): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 2612 | chr5 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113897142 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG01891.hp1 others(16): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0073 a0001c0003t0001g0031 others(6): Show |
19 | 97 | 0.1959 | 9 | c.130 others(26): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113907204 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01433.hp2 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0027 others(2): Show |
17 | 133 | 0.1278 | 9 | c.-24 others(20): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2406 | chr1 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50990344 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00735.hp1 others(68): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0002others(5): Show | a0001c0001t0001g0279 a0001c0001t0005g0301 a0001c0001t0005g0303 others(67): Show |
71 | 218 | 0.3257 | 9 | c.209 others(28): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0020others(3): Show | a0001c0001t0004g0003 a0001c0001t0004g0012 a0001c0001t0008g0003 others(4): Show |
14 | 242 | 0.0579 | 9 | c.*73 others(20): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(48): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0031 others(15): Show |
51 | 279 | 0.1828 | 9 | c.*73 others(20): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98653689 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG03017.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0244 a0001c0001t0001g0258 a0001c0001t0009g0084 |
3 | 245 | 0.0122 | 9 | c.526 others(26): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0039 | a0001c0001t0001g0249 a0001c0001t0001g0278 a0001c0001t0039g0012 |
3 | 121 | 0.0248 | 9 | c.526 others(26): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98665278 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0008 a0001c0001t0004g0168 a0001c0001t0004g0169 others(5): Show |
8 | 221 | 0.0362 | 9 | c.956 others(24): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69540122 | G | GCAACAAC others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01099.hp1 HG01361.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(5): Show | a0001c0001t0001g0075 a0001c0001t0001g0109 a0001c0001t0001g0110 others(25): Show |
28 | 106 | 0.2642 | 9 | c.-69 others(28): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28908315 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03139.hp2 HG03486.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0039a0002c0002t0003others(4): Show | a0001c0001t0002g0006 a0001c0001t0039g0188 a0002c0002t0003g0204 others(4): Show |
7 | 178 | 0.0393 | 9 | c.-20 others(30): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29056610 | C | CTCCCTCC others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00621.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0063 others(14): Show |
17 | 27 | 0.6296 | 9 | c.951 others(26): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29056610 | C | CTTCCTTC others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02129.hp2 HG02280.hp2 others(12): Show |
a0002a0003a0005 | a0002c0002a0002c0003a0003c0008others(1): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0007others(9): Show | a0002c0002t0003g0103 a0002c0002t0003g0143 a0002c0002t0006g0003 others(12): Show |
15 | 25 | 0.6000 | 9 | c.951 others(26): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26505753 | A | ACCCATAT others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02258.hp2 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0009 a0001c0001t0001g0102 a0001c0001t0001g0111 others(18): Show |
21 | 356 | 0.0590 | 9 | c.531 others(26): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40881528 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02258.hp1 HG02723.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0038a0001c0003t0001a0001c0004t0003others(2): Show | a0001c0002t0038g0051 a0001c0003t0001g0159 a0001c0004t0003g0111 others(2): Show |
5 | 98 | 0.0510 | 9 | c.152 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40972445 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01169.hp2 others(4): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0003a0001c0004t0004a0002c0001t0005others(1): Show | a0001c0004t0003g0044 a0001c0004t0004g0045 a0001c0004t0004g0046 others(4): Show |
7 | 145 | 0.0483 | 9 | c.836 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40991010 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01517.hp2 HG02630.hp1 others(6): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0001c0003t0004a0002c0001t0001others(4): Show | a0001c0003t0003g0138 a0001c0003t0004g0139 a0002c0001t0001g0117 others(6): Show |
9 | 121 | 0.0744 | 9 | c.835 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41159907 | A | AAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02738.hp2 NA19066.hp2 |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0001a0001c0004t0020a0002c0001t0004 | a0001c0003t0001g0038 a0001c0004t0020g0036 a0002c0001t0004g0191 |
3 | 99 | 0.0303 | 9 | c.-41 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41159910 | G | GAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01109.hp2 others(2): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0006 | a0001c0002t0006a0001c0003t0055a0003c0006t0015 | a0001c0002t0006g0058 a0001c0003t0055g0080 a0003c0006t0015g0081 others(2): Show |
5 | 181 | 0.0276 | 9 | c.-41 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41159940 | G | GAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01516.hp1 HG01517.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0004a0001c0002t0007others(2): Show | a0001c0002t0001g0060 a0001c0002t0004g0170 a0001c0002t0007g0171 others(3): Show |
6 | 157 | 0.0382 | 9 | c.-41 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41159955 | G | GAGAAGAA others(2): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02965.hp1 HG03209.hp1 others(6): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0017a0001c0004t0004others(5): Show | a0001c0002t0002g0104 a0001c0002t0017g0094 a0001c0002t0017g0095 others(6): Show |
9 | 147 | 0.0612 | 9 | c.-41 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41159961 | G | GAGAAGAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0004a0001c0003t0013a0002c0001t0001others(1): Show | a0001c0002t0004g0028 a0001c0003t0013g0024 a0002c0001t0001g0065 others(1): Show |
4 | 69 | 0.0580 | 9 | c.-41 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar |