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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP1S3_chr2_223750326_223842582 | 223773735 | CAAG | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(251): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(250): Show |
254 | 338 | 0.7515 | -3 | c.291 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223816340 | GAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(72): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0122 others(71): Show |
75 | 216 | 0.3472 | -3 | c.3+2 others(18): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223828058 | TAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG02055.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(32): Show |
35 | 63 | 0.5556 | -3 | c.3+9 others(16): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP2A1_chr19_49762001_49812114 | 49762819 | TCTC | T | upstream_gene_variant | MODIFIER | HG02735.hp2 HG03017.hp2 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0065 a0001c0001t0001g0235 |
4 | 340 | 0.0118 | -3 | c.-43 others(14): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 4181 | chr19 | TogoVar | |||||||
AP2A1_chr19_49762001_49812114 | 49780933 | TGGA | T | intron_variant | MODIFIER | HG01169.hp2 HG01192.hp1 HG01256.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0269 others(5): Show |
8 | 340 | 0.0235 | -3 | c.68- others(16): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49797851 | CAGA | C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00639.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0120 others(26): Show |
30 | 340 | 0.0882 | -3 | c.815 others(18): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49806358 | CCCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(167): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 others(158): Show |
170 | 340 | 0.5000 | -3 | c.279 others(20): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49811746 | ACTC | A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01099.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0001 | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 others(18): Show |
24 | 340 | 0.0706 | -3 | c.*49 others(14): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 4633 | chr19 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 930120 | CAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01243.hp1 others(17): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0004others(2): Show | a0001c0002t0002g0225 a0001c0002t0002g0232 a0001c0002t0002g0233 others(17): Show |
20 | 218 | 0.0917 | -3 | c.67+ others(18): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 935603 | GTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(111): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(111): Show |
114 | 115 | 0.9913 | -3 | c.67+ others(18): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 961381 | TGGA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(132): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(132): Show |
135 | 266 | 0.5075 | -3 | c.136 others(20): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 1012992 | TCTC | T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0006a0001c0006t0018 | a0001c0003t0006g0138 a0001c0003t0006g0263 a0001c0003t0006g0264 others(4): Show |
7 | 266 | 0.0263 | -3 | c.*23 others(14): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 753 | chr11 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35583115 | CTTT | C | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0009a0001c0002t0010 | a0001c0001t0005g0003 a0001c0001t0005g0132 a0001c0001t0005g0146 others(3): Show |
6 | 63 | 0.0952 | -3 | c.-43 others(14): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 4206 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35602925 | CGTT | C | intron_variant | MODIFIER | HG00673.hp2 HG02027.hp1 HG02135.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 others(1): Show |
4 | 370 | 0.0108 | -3 | c.144 others(20): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35607220 | AGTT | A | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01123.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0163 a0001c0004t0002g0164 a0001c0004t0002g0165 others(3): Show |
6 | 370 | 0.0162 | -3 | c.280 others(18): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35626106 | CATT | C | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(1): Show |
4 | 370 | 0.0108 | -3 | c.717 others(18): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35643753 | AGTC | A | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 others(1): Show |
4 | 370 | 0.0108 | -3 | c.153 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35693760 | ACTT | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(137): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(5): Show | a0001c0002t0001g0005 a0001c0002t0001g0062 a0001c0002t0001g0184 others(136): Show |
140 | 370 | 0.3784 | -3 | c.245 others(24): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35701940 | CATT | C | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(1): Show |
4 | 370 | 0.0108 | -3 | c.245 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720568 | TATA | T | intron_variant | MODIFIER | NA18992.hp1 NA19081.hp2 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0264 a0001c0002t0001g0283 a0001c0002t0011g0190 |
3 | 369 | 0.0081 | -3 | c.278 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46855092 | CAAA | C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0032 others(4): Show |
7 | 114 | 0.0614 | -3 | c.-43 others(14): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4247 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78015515 | ACAG | A | disruptive_inframe_deletion | MODERATE | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
a0003 | a0003c0007a0003c0008a0003c0009 | a0003c0007t0002a0003c0008t0002a0003c0009t0002 | a0003c0007t0002g0052 a0003c0007t0002g0079 a0003c0007t0002g0080 others(9): Show |
12 | 224 | 0.0536 | -3 | c.302 others(12): Show |
p.Ala others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/27 | 3144/3980 | 3023/3285 | 1008/1094 | chr5 | TogoVar | |||
AP3B1_chr5_77997326_78299698 | 78081912 | AAAC | A | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
a0001a0003a0007 | a0001c0004a0001c0005a0003c0009others(1): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(3): Show | a0001c0004t0001g0087 a0001c0004t0002g0006 a0001c0004t0002g0007 others(14): Show |
17 | 224 | 0.0759 | -3 | c.257 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78126504 | CAAA | C | intron_variant | MODIFIER | HG01346.hp1 HG01952.hp2 HG04228.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0002g0021 others(2): Show |
5 | 62 | 0.0806 | -3 | c.196 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78135781 | ATTG | A | intron_variant | MODIFIER | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(9): Show |
a0001a0007 | a0001c0004a0001c0005a0007c0013 | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(2): Show | a0001c0004t0001g0087 a0001c0004t0002g0085 a0001c0005t0001g0195 others(9): Show |
12 | 224 | 0.0536 | -3 | c.165 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78165484 | AGTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(41): Show |
a0001a0003a0008 | a0001c0002a0001c0012a0003c0007others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0012t0001others(2): Show | a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 others(41): Show |
44 | 223 | 0.1973 | -3 | c.123 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78168219 | CTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp1 HG02148.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 others(2): Show |
5 | 223 | 0.0224 | -3 | c.116 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78168223 | TTTC | T | intron_variant | MODIFIER | HG00642.hp2 HG02055.hp2 HG02280.hp1 others(6): Show |
a0001a0007 | a0001c0004a0001c0005a0007c0013 | a0001c0004t0002a0001c0005t0002a0007c0013t0002 | a0001c0004t0002g0185 a0001c0005t0002g0004 a0001c0005t0002g0187 others(6): Show |
9 | 224 | 0.0402 | -3 | c.116 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78216658 | GAAC | G | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0145 |
2 | 224 | 0.0089 | -3 | c.604 others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78244427 | AAAG | A | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG02630.hp1 others(8): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0008 | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(1): Show | a0001c0004t0001g0005 a0001c0004t0001g0077 a0001c0004t0002g0001 others(8): Show |
11 | 224 | 0.0491 | -3 | c.205 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78248492 | CAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0002g0011 others(28): Show |
31 | 82 | 0.3780 | -3 | c.205 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78280683 | AAAC | A | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(26): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0004t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(26): Show |
29 | 222 | 0.1306 | -3 | c.129 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78282377 | GAAA | G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0004t0002a0001c0005t0002 | a0001c0004t0001g0005 a0001c0004t0002g0001 a0001c0004t0002g0002 others(2): Show |
5 | 197 | 0.0254 | -3 | c.128 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82695095 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(88): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0007a0001c0015others(4): Show | a0001c0001t0001a0001c0007t0001a0001c0015t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(85): Show |
91 | 352 | 0.2585 | -3 | c.114 others(20): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2122207 | CCAG | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(141): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(18): Show | a0001c0001t0001g0177 a0001c0003t0001g0072 a0001c0003t0001g0192 others(141): Show |
144 | 404 | 0.3564 | -3 | c.956 others(18): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 11/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2131644 | ACCT | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00673.hp1 others(24): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0013 | a0001c0001t0001a0001c0004t0002a0001c0004t0014others(1): Show | a0001c0001t0001g0244 a0001c0004t0002g0052 a0001c0004t0002g0214 others(24): Show |
27 | 404 | 0.0668 | -3 | c.462 others(18): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 5/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2143230 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(68): Show |
a0001a0002a0004 | a0001c0002a0001c0006a0001c0010others(2): Show | a0001c0002t0001a0001c0002t0012a0001c0006t0002others(4): Show | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 others(64): Show |
71 | 228 | 0.3114 | -3 | c.97- others(18): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74126970 | CAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG02559.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(1): Show | a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0011g0202 others(3): Show |
6 | 82 | 0.0732 | -3 | c.804 others(18): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74137795 | GAGA | G | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0013 | a0001c0001t0007g0206 a0001c0001t0011g0202 a0001c0001t0011g0203 others(2): Show |
5 | 332 | 0.0151 | -3 | c.273 others(18): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74147283 | TCAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(122): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0010 others(93): Show |
125 | 332 | 0.3765 | -3 | c.-4+ others(18): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42157813 | CGTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0026 others(13): Show |
53 | 390 | 0.1359 | -3 | c.274 others(18): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42158246 | AGTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00673.hp1 others(108): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0117 a0001c0001t0003g0002 a0001c0001t0003g0011 others(54): Show |
111 | 390 | 0.2846 | -3 | c.445 others(18): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42173951 | AGAC | A | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 a0001c0001t0005g0061 |
5 | 390 | 0.0128 | -3 | c.*48 others(14): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 2769 | chr8 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89832486 | ATTT | A | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01346.hp1 HG02723.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0016a0001c0001t0021a0001c0001t0023others(3): Show | a0001c0001t0016g0284 a0001c0001t0016g0285 a0001c0001t0021g0152 others(5): Show |
8 | 80 | 0.1000 | -3 | c.*30 others(14): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 6/6 | 3026 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89855945 | TAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(143): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(134): Show |
146 | 217 | 0.6728 | -3 | c.345 others(22): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89873281 | GTCT | G | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 |
3 | 310 | 0.0097 | -3 | c.274 others(20): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89875599 | TGAG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(152): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(141): Show |
155 | 310 | 0.5000 | -3 | c.274 others(20): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89876586 | AAAG | A | intron_variant | MODIFIER | HG02723.hp1 HG03209.hp2 HG03453.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0016a0003c0004t0016 | a0001c0001t0016g0284 a0001c0001t0016g0285 a0003c0004t0016g0287 |
3 | 310 | 0.0097 | -3 | c.274 others(20): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50911479 | ATTT | A | intron_variant | MODIFIER | HG00408.hp1 HG01257.hp1 HG02300.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(3): Show |
6 | 143 | 0.0420 | -3 | c.151 others(18): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50912364 | GTGA | G | intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0321 a0001c0001t0009g0318 a0001c0001t0009g0319 others(1): Show |
4 | 390 | 0.0103 | -3 | c.222 others(18): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |