regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AARSD1_chr17_42945526_42969454 | 42967452 | T | TTA | upstream_gene_variant | MODIFIER | HG01993.hp1 HG02922.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0120 | 3 | 324 | 0.0093 | 2 | c.-30 others(13): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2999 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967513 | A | ATT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(134): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(4): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(59): Show | 137 | 324 | 0.4228 | 2 | c.-30 others(13): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3060 | chr17 | TogoVar | ||||||
AASDHPPT_chr11_106072662_106103695 | 106073258 | C | CTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(161): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(49): Show | 164 | 404 | 0.4059 | 2 | c.-44 others(13): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 4403 | chr11 | TogoVar | ||||||
AASDHPPT_chr11_106072662_106103695 | 106094476 | G | GTA | intron_variant | MODIFIER | HG03225.hp2 HG03710.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037a0001c0001t0001g0084a0001c0001t0002g0096 | 4 | 404 | 0.0099 | 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 | a0001c0001t0001g0125a0002c0002t0001g0002a0002c0002t0001g0009others(68): Show | 81 | 382 | 0.2120 | 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(187): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0005a0001c0010others(10): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(12): Show | a0001c0001t0001g0166a0001c0005t0001g0011a0001c0005t0001g0028others(168): Show | 190 | 382 | 0.4974 | 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 | a0002c0002t0001g0108a0002c0002t0001g0178a0002c0002t0001g0181others(7): Show | 10 | 382 | 0.0262 | 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 | a0005c0007t0003g0035a0005c0007t0003g0036a0005c0007t0003g0037others(3): Show | 6 | 382 | 0.0157 | 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 |
a0003a0004a0007 | a0003c0003a0004c0004a0007c0008 | a0003c0003t0001a0003c0003t0002a0004c0004t0001others(1): Show | a0003c0003t0001g0220a0003c0003t0002g0044a0003c0003t0002g0045others(19): Show | 22 | 382 | 0.0576 | 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 | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(42): Show | 48 | 382 | 0.1257 | 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(75): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0001a0003c0003t0002a0018c0023t0002 | a0003c0003t0001g0220a0003c0003t0002g0003a0003c0003t0002g0010others(67): Show | 78 | 382 | 0.2042 | 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 |
a0001a0007a0011others(1): Show | a0001c0005a0001c0010a0007c0008others(2): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(3): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(41): Show | 47 | 382 | 0.1230 | 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 |
a0001a0005a0007others(2): Show | a0001c0005a0001c0010a0005c0007others(3): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(4): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(40): Show | 46 | 382 | 0.1204 | 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 |
a0001a0015a0016 | a0001c0005a0015c0021a0016c0018 | a0001c0005t0001a0001c0005t0005a0015c0021t0001others(1): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(36): Show | 42 | 382 | 0.1100 | 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 | a0001c0001t0001g0057a0001c0001t0001g0094a0001c0001t0001g0095others(4): Show | 7 | 382 | 0.0183 | 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 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 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 | a0002c0002t0001g0226a0002c0002t0001g0227a0002c0002t0001g0232others(16): Show | 20 | 382 | 0.0524 | 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 |
a0001a0002a0006others(1): Show | a0001c0005a0002c0002a0006c0009others(1): Show | a0001c0005t0001a0002c0002t0001a0006c0009t0004others(1): Show | a0001c0005t0001g0308a0002c0002t0001g0175a0006c0009t0004g0029others(2): Show | 6 | 382 | 0.0157 | 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 | a0001c0001t0001g0052a0001c0001t0003g0275a0001c0001t0003g0276others(4): Show | 7 | 384 | 0.0182 | 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(233): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0014a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 236 | 384 | 0.6146 | 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 | a0001c0001t0002g0189a0001c0001t0002g0218a0001c0001t0024g0222 | 3 | 384 | 0.0078 | 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 |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0019others(75): Show | 92 | 384 | 0.2396 | 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 | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(25): Show | 36 | 384 | 0.0938 | 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 | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0088others(3): Show | 6 | 245 | 0.0245 | 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 | a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0039others(12): Show | 15 | 245 | 0.0612 | 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 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026others(6): Show | 9 | 245 | 0.0367 | 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 | a0001c0001t0003g0016a0001c0001t0003g0075a0001c0001t0003g0076others(11): Show | 14 | 245 | 0.0571 | 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 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0019others(24): Show | 27 | 245 | 0.1102 | 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 |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(2): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026others(15): Show | 18 | 245 | 0.0735 | 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(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0096a0001c0001t0001g0147a0001c0001t0001g0242others(27): Show | 31 | 245 | 0.1265 | 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 | a0001c0001t0001g0023a0001c0001t0001g0029a0001c0001t0001g0038others(2): Show | 5 | 245 | 0.0204 | 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 |
a0001a0002a0005 | a0001c0001a0002c0004a0005c0008 | a0001c0001t0001a0001c0001t0003a0002c0004t0001others(1): Show | a0001c0001t0001g0069a0001c0001t0001g0087a0001c0001t0001g0089others(9): Show | 12 | 245 | 0.0490 | 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 | a0001c0001t0001g0028a0001c0001t0001g0083a0001c0001t0001g0159others(18): Show | 21 | 245 | 0.0857 | 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 | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0033others(9): Show | 12 | 245 | 0.0490 | 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 | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0062others(7): Show | 10 | 245 | 0.0408 | 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 | a0001c0001t0001g0023a0001c0001t0001g0056a0001c0001t0001g0057others(37): Show | 40 | 245 | 0.1633 | 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 | a0001c0001t0001g0017a0001c0001t0001g0083a0001c0001t0001g0087others(6): Show | 9 | 245 | 0.0367 | 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 | a0001c0001t0001g0020a0001c0001t0001g0050a0001c0001t0001g0051others(29): Show | 32 | 245 | 0.1306 | 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 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0062others(20): Show | 23 | 245 | 0.0939 | 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 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0105others(11): Show | 14 | 245 | 0.0571 | 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 | a0003c0023t0001g0172a0003c0023t0001g0202a0003c0027t0001g0281others(3): Show | 6 | 368 | 0.0163 | 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 | a0001c0001t0001g0273a0001c0011t0001g0198a0001c0011t0001g0249others(19): Show | 24 | 368 | 0.0652 | 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 | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(8): Show | 13 | 368 | 0.0353 | 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(320): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0004a0001c0011others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(72): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(301): Show | 323 | 368 | 0.8777 | 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(346): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(65): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(86): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(325): Show | 349 | 368 | 0.9484 | 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 | a0001c0001t0001a0002c0002t0018a0003c0007t0001others(3): Show | a0001c0001t0001g0093a0002c0002t0018g0151a0003c0007t0001g0278others(3): Show | 6 | 368 | 0.0163 | 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 | a0005c0021t0001a0006c0042t0011a0006c0056t0011others(3): Show | a0005c0021t0001g0206a0006c0042t0011g0335a0006c0056t0011g0332others(3): Show | 6 | 368 | 0.0163 | 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(20): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(11): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(11): Show | a0001c0001t0001g0093a0002c0002t0001g0033a0002c0002t0001g0042others(20): Show | 23 | 368 | 0.0625 | 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 | a0001c0001t0013a0002c0002t0001a0003c0003t0002others(9): Show | a0001c0001t0013g0216a0002c0002t0001g0275a0003c0003t0002g0243others(12): Show | 15 | 368 | 0.0408 | 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 | a0001c0001t0001g0014a0001c0001t0001g0242a0001c0001t0001g0255others(76): Show | 82 | 368 | 0.2228 | 2 | c.55+ others(17): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar |