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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AASDHPPT_chr11_106072662_106103695 | 106094476 | G | GTA | intron_variant | MODIFIER | HG03225.hp2 HG03710.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0036 a0001c0001t0001g0085 a0001c0001t0002g0097 |
4 | 402 | 0.0100 | 2 | c.694 others(15): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56339748 | C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00735.hp2 others(78): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0006others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(9): Show | a0001c0001t0001g0125 a0002c0002t0001g0002 a0002c0002t0001g0009 others(68): Show |
81 | 161 | 0.5031 | 2 | c.290 others(19): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56339830 | A | AAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(186): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0005a0001c0010others(10): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(12): Show | a0001c0001t0001g0166 a0001c0005t0001g0011 a0001c0005t0001g0028 others(167): Show |
189 | 379 | 0.4987 | 2 | c.290 others(21): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56341389 | C | CTT | intron_variant | MODIFIER | HG01074.hp1 HG01346.hp2 HG01496.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 a0002c0002t0001g0178 a0002c0002t0001g0181 others(7): Show |
10 | 88 | 0.1136 | 2 | c.290 others(21): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56369944 | T | TAA | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG03041.hp1 others(3): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0035 a0005c0007t0003g0036 a0005c0007t0003g0037 others(3): Show |
6 | 328 | 0.0183 | 2 | c.861 others(19): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56374367 | C | CAA | intron_variant | MODIFIER | HG00423.hp1 HG01255.hp1 HG01358.hp1 others(19): Show |
a0003a0004a0006 | a0003c0003a0004c0004a0006c0008 | a0003c0003t0001a0003c0003t0002a0004c0004t0001others(1): Show | a0003c0003t0001g0220 a0003c0003t0002g0044 a0003c0003t0002g0045 others(19): Show |
22 | 153 | 0.1438 | 2 | c.669 others(19): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56376019 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0010a0002c0002others(4): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(5): Show | a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0032 others(42): Show |
48 | 244 | 0.1967 | 2 | c.668 others(19): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56377070 | A | AAT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0012 | a0003c0003a0012c0023 | a0003c0003t0001a0003c0003t0002a0012c0023t0002 | a0003c0003t0001g0220 a0003c0003t0002g0003 a0003c0003t0002g0010 others(66): Show |
77 | 380 | 0.2026 | 2 | c.668 others(19): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56377077 | A | AAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(44): Show |
a0001a0006a0013others(1): Show | a0001c0005a0001c0010a0006c0008others(2): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(3): Show | a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0032 others(41): Show |
47 | 379 | 0.1240 | 2 | c.668 others(19): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56381584 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(43): Show |
a0001a0005a0006others(2): Show | a0001c0005a0001c0010a0005c0007others(3): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(4): Show | a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0032 others(40): Show |
46 | 361 | 0.1274 | 2 | c.351 others(17): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56381646 | T | TTC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(39): Show |
a0001a0011a0013 | a0001c0005a0011c0018a0013c0021 | a0001c0005t0001a0001c0005t0005a0011c0018t0001others(1): Show | a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0032 others(36): Show |
42 | 380 | 0.1105 | 2 | c.351 others(17): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56381649 | T | TCA | intron_variant | MODIFIER | HG01109.hp2 HG03098.hp1 NA18906.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0094 a0001c0001t0001g0095 others(4): Show |
7 | 127 | 0.0551 | 2 | c.351 others(17): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56381976 | G | GTC | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033 a0005c0007t0003g0034 a0005c0007t0003g0035 others(5): Show |
8 | 380 | 0.0211 | 2 | c.351 others(17): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56386799 | C | CAA | intron_variant | MODIFIER | HG02080.hp1 HG02559.hp1 HG02647.hp2 others(17): Show |
a0002a0003a0004 | a0002c0002a0002c0006a0002c0024others(2): Show | a0002c0002t0001a0002c0006t0001a0002c0024t0001others(2): Show | a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0232 others(16): Show |
20 | 120 | 0.1667 | 2 | c.-43 others(17): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56391481 | A | ATG | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02258.hp2 others(3): Show |
a0001a0002a0007others(1): Show | a0001c0005a0002c0002a0007c0009others(1): Show | a0001c0005t0001a0002c0002t0001a0007c0009t0004others(1): Show | a0001c0005t0001g0308 a0002c0002t0001g0175 a0007c0009t0004g0029 others(2): Show |
6 | 369 | 0.0163 | 2 | c.-41 others(13): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3991 | chr4 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122098872 | T | TAA | splice_region_variant others(1): Show |
LOW | HG00558.hp2 HG00597.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0052 a0001c0001t0003g0279 a0001c0001t0003g0280 others(4): Show |
7 | 268 | 0.0261 | 2 | c.140 others(15): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 13/23 | chr7 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122109253 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(232): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0014a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(190): Show |
235 | 357 | 0.6583 | 2 | c.127 others(21): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | chr7 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122129758 | C | CAT | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024 | a0001c0001t0002g0192 a0001c0001t0002g0222 a0001c0001t0024g0226 |
3 | 382 | 0.0079 | 2 | c.211 others(17): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 2/23 | chr7 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122135271 | T | TAA | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(89): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(75): Show |
92 | 198 | 0.4646 | 2 | c.-15 others(19): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122140485 | C | CAA | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00733.hp2 others(33): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(25): Show |
36 | 128 | 0.2813 | 2 | c.-16 others(19): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 36944264 | T | TAA | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 others(3): Show |
6 | 151 | 0.0397 | 2 | c.-48 others(13): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4689 | chr17 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 36959126 | C | CAA | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0039 others(12): Show |
15 | 244 | 0.0615 | 2 | c.832 others(19): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | chr17 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 36962565 | A | ATT | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02647.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(6): Show |
9 | 213 | 0.0423 | 2 | c.832 others(19): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36974068 | C | CAA | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 HG02723.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0003a0001c0003t0004a0001c0009t0001others(2): Show | a0001c0001t0003g0016 a0001c0001t0003g0075 a0001c0001t0003g0076 others(11): Show |
14 | 177 | 0.0791 | 2 | c.833 others(21): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36981702 | C | CTT | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01884.hp2 others(24): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0003t0001a0003c0005t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 others(24): Show |
27 | 199 | 0.1357 | 2 | c.833 others(19): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36981707 | T | TTC | intron_variant | MODIFIER | HG01891.hp1 HG02135.hp2 HG02258.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(15): Show |
18 | 244 | 0.0738 | 2 | c.833 others(19): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36992614 | A | ATT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0096 a0001c0001t0001g0148 a0001c0001t0001g0242 others(26): Show |
30 | 180 | 0.1667 | 2 | c.139 others(21): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37003471 | C | CTT | intron_variant | MODIFIER | HG02486.hp1 HG02970.hp2 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0039 others(2): Show |
5 | 136 | 0.0368 | 2 | c.139 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37009823 | C | CAA | intron_variant | MODIFIER | HG02055.hp1 HG02293.hp2 HG02723.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0008 | a0001c0001t0001a0001c0001t0003a0002c0004t0001others(1): Show | a0001c0001t0001g0069 a0001c0001t0001g0087 a0001c0001t0001g0089 others(9): Show |
12 | 117 | 0.1026 | 2 | c.139 others(21): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37022113 | C | CGT | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0083 a0001c0001t0001g0159 others(18): Show |
21 | 108 | 0.1944 | 2 | c.154 others(21): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37028952 | A | AAT | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02258.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0033 others(9): Show |
12 | 244 | 0.0492 | 2 | c.154 others(21): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37042578 | C | CTT | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02027.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0001 | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0064 others(7): Show |
10 | 204 | 0.0490 | 2 | c.161 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37046730 | A | AAC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00621.hp1 others(37): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0023 a0001c0001t0001g0056 a0001c0001t0001g0057 others(37): Show |
40 | 140 | 0.2857 | 2 | c.162 others(21): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37051693 | G | GAC | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02922.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0004 | a0001c0001t0001g0017 a0001c0001t0001g0083 a0001c0001t0001g0087 others(6): Show |
9 | 202 | 0.0446 | 2 | c.162 others(21): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37051697 | G | GAC | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG01106.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0051 others(29): Show |
32 | 143 | 0.2238 | 2 | c.162 others(21): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37058297 | A | ATT | downstream_gene_variant | MODIFIER | HG01361.hp1 HG01884.hp1 HG01884.hp2 others(20): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0064 others(20): Show |
23 | 26 | 0.8846 | 2 | c.*16 others(13): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 1427 | chr17 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37059843 | A | AGT | downstream_gene_variant | MODIFIER | HG01361.hp1 HG01884.hp1 HG02135.hp2 others(11): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0105 others(11): Show |
14 | 243 | 0.0576 | 2 | c.*31 others(13): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 2973 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81114136 | A | ATT | downstream_gene_variant | MODIFIER | HG01261.hp1 HG02559.hp2 HG02615.hp2 others(3): Show |
a0003a0005 | a0003c0023a0003c0027a0003c0047others(1): Show | a0003c0023t0001a0003c0027t0001a0003c0047t0001others(1): Show | a0003c0023t0001g0169 a0003c0023t0001g0199 a0003c0027t0001g0277 others(3): Show |
6 | 244 | 0.0246 | 2 | c.*42 others(13): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 3158 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81127266 | G | GCC | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00738.hp1 others(21): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0011a0002c0064others(7): Show | a0001c0001t0001a0001c0011t0001a0002c0064t0001others(7): Show | a0001c0001t0001g0264 a0001c0011t0001g0195 a0001c0011t0001g0245 others(19): Show |
24 | 350 | 0.0686 | 2 | c.621 others(17): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 6/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81137257 | T | TAA | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(10): Show |
a0003a0006a0007others(2): Show | a0003c0003a0003c0007a0003c0020others(6): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(6): Show | a0003c0003t0002g0010 a0003c0003t0002g0038 a0003c0007t0001g0116 others(8): Show |
13 | 328 | 0.0396 | 2 | c.56- others(17): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81138455 | G | GCA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(319): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0004a0001c0011others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(69): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(301): Show |
322 | 344 | 0.9360 | 2 | c.56- others(17): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81138800 | C | CCA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(65): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(83): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(325): Show |
348 | 366 | 0.9508 | 2 | c.56- others(17): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81146188 | T | TAA | intron_variant | MODIFIER | HG00621.hp1 HG02615.hp2 HG02922.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0007others(3): Show | a0001c0001t0001a0002c0002t0016a0003c0007t0001others(3): Show | a0001c0001t0001g0087 a0002c0002t0016g0148 a0003c0007t0001g0274 others(3): Show |
6 | 176 | 0.0341 | 2 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81147360 | C | CAA | intron_variant | MODIFIER | HG01169.hp2 HG01255.hp2 HG01884.hp1 others(3): Show |
a0005a0006a0009others(2): Show | a0005c0021a0006c0042a0006c0056others(3): Show | a0005c0021t0001a0006c0042t0001a0006c0056t0001others(3): Show | a0005c0021t0001g0202 a0006c0042t0001g0335 a0006c0056t0001g0332 others(3): Show |
6 | 348 | 0.0172 | 2 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81148064 | C | CAA | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01167.hp2 others(19): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(11): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(11): Show | a0001c0001t0001g0087 a0002c0002t0001g0030 a0002c0002t0001g0036 others(19): Show |
22 | 71 | 0.3099 | 2 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81154319 | C | CTT | intron_variant | MODIFIER | HG00597.hp1 HG01106.hp2 HG01255.hp2 others(12): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0010a0002c0002t0001a0003c0003t0002others(9): Show | a0001c0001t0010g0218 a0002c0002t0001g0273 a0003c0003t0002g0244 others(12): Show |
15 | 103 | 0.1456 | 2 | c.55+ others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81156178 | C | CTA | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00735.hp1 others(79): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0011others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(34): Show | a0001c0001t0001g0014 a0001c0001t0001g0237 a0001c0001t0001g0250 others(76): Show |
82 | 366 | 0.2240 | 2 | c.55+ others(17): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81166503 | C | CGG | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(44): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0002c0002others(14): Show | a0001c0001t0001a0001c0004t0002a0002c0002t0001others(16): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0134 others(41): Show |
47 | 181 | 0.2597 | 2 | c.-51 others(11): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 283 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8673393 | G | GCT | upstream_gene_variant | MODIFIER | HG01993.hp1 NA18957.hp1 NA18980.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0040others(2): Show | a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0003g0252 others(3): Show |
6 | 360 | 0.0167 | 2 | c.-13 others(13): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1223 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8673396 | C | CTG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(85): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0070 others(85): Show |
88 | 205 | 0.4293 | 2 | c.-13 others(13): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1220 | chr16 | TogoVar |