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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AASDH_chr4_56333290_56392491 | 56348258 | C | CT | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02559.hp1 others(11): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0007 | a0002c0002t0001a0003c0003t0001a0003c0003t0002others(1): Show | a0002c0002t0001g0226a0002c0002t0001g0235a0003c0003t0001g0220others(11): Show | 14 | 382 | 0.0367 | 1 | c.248 others(10): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56351917 | C | CA | intron_variant | MODIFIER | HG01258.hp2 HG01433.hp1 HG02572.hp2 others(7): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0002a0004c0004t0001 | a0001c0001t0001g0012a0001c0001t0001g0065a0001c0001t0001g0066others(6): Show | 10 | 382 | 0.0262 | 1 | c.157 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56355593 | G | GT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(57): Show |
a0001a0004a0009others(1): Show | a0001c0001a0004c0004a0004c0025others(2): Show | a0001c0001t0001a0004c0004t0001a0004c0025t0001others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0079a0001c0001t0001g0080others(48): Show | 60 | 382 | 0.1571 | 1 | c.862 others(8): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56355594 | T | TG | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG03041.hp1 others(3): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0035a0005c0007t0003g0036a0005c0007t0003g0037others(3): Show | 6 | 382 | 0.0157 | 1 | c.862 others(16): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56359112 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(132): Show |
a0001a0002a0003others(6): Show | a0001c0005a0001c0010a0002c0002others(7): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(9): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(121): Show | 135 | 382 | 0.3534 | 1 | c.862 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56359645 | A | AC | intron_variant | MODIFIER | HG01243.hp1 HG02040.hp1 HG02486.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0078a0001c0001t0001g0162a0001c0005t0001g0050others(5): Show | 8 | 382 | 0.0209 | 1 | c.862 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56368868 | T | TA | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp1 HG02897.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0002 | a0001c0001t0001g0091a0002c0002t0001g0198a0003c0003t0002g0044others(6): Show | 9 | 382 | 0.0236 | 1 | c.861 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56370416 | G | GA | intron_variant | MODIFIER | HG04199.hp1 NA18969.hp2 NA18972.hp1 others(2): Show |
a0001a0004a0012 | a0001c0005a0004c0004a0012c0015 | a0001c0005t0001a0004c0004t0001a0012c0015t0001 | a0001c0005t0001g0032a0004c0004t0001g0142a0004c0004t0001g0143others(2): Show | 5 | 382 | 0.0131 | 1 | c.861 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56371941 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(45): Show |
a0001a0007a0011others(1): Show | a0001c0005a0001c0010a0007c0008others(2): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(3): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(42): Show | 48 | 382 | 0.1257 | 1 | c.669 others(8): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56373833 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 1 | c.669 others(18): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56374367 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(116): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0005a0001c0010others(8): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(9): Show | a0001c0001t0001g0166a0001c0005t0001g0285a0001c0005t0001g0313others(100): Show | 119 | 382 | 0.3115 | 1 | c.669 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56376019 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(78): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0069a0001c0005t0001g0316a0001c0005t0001g0317others(67): Show | 81 | 382 | 0.2120 | 1 | c.668 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56377086 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(221): Show |
a0001a0002a0003others(9): Show | a0001c0005a0001c0010a0002c0002others(12): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(15): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(199): Show | 224 | 382 | 0.5864 | 1 | c.668 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56381584 | C | CA | intron_variant | MODIFIER | HG01070.hp2 HG01175.hp2 HG02055.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0283a0001c0005t0001g0284a0002c0002t0001g0123others(16): Show | 19 | 382 | 0.0497 | 1 | c.351 others(8): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56383162 | A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0003a0018 | a0003c0003a0018c0023 | a0003c0003t0001a0003c0003t0002a0018c0023t0002 | a0003c0003t0001g0220a0003c0003t0002g0003a0003c0003t0002g0010others(67): Show | 78 | 382 | 0.2042 | 1 | c.231 others(8): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 2/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56383918 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(288): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(257): Show | 291 | 382 | 0.7618 | 1 | c.230 others(16): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 2/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56385779 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(68): Show |
a0001a0002a0015others(1): Show | a0001c0005a0002c0002a0015c0021others(1): Show | a0001c0005t0001a0001c0005t0005a0002c0002t0001others(2): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(62): Show | 71 | 382 | 0.1859 | 1 | c.-42 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56385932 | T | TC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
a0001a0003a0007others(3): Show | a0001c0005a0001c0010a0003c0003others(4): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(5): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(109): Show | 123 | 382 | 0.3220 | 1 | c.-43 others(18): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56386799 | C | CA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(121): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0002a0002c0006others(9): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(11): Show | a0001c0001t0001g0125a0001c0001t0001g0157a0001c0001t0001g0158others(105): Show | 124 | 382 | 0.3246 | 1 | c.-43 others(8): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56389410 | C | CA | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(95): Show |
a0002a0008a0012others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(84): Show | 98 | 382 | 0.2565 | 1 | c.-20 others(12): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1920 | chr4 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122069778 | T | TA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(279): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(236): Show | 282 | 384 | 0.7344 | 1 | c.*67 others(6): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 3770 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122070542 | G | GA | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02148.hp1 others(17): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0013 | a0001c0001t0001a0001c0001t0012a0001c0001t0033others(2): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0052others(17): Show | 20 | 384 | 0.0521 | 1 | c.*59 others(6): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 3006 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122074869 | G | GT | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(68): Show |
a0001a0005a0006 | a0001c0001a0005c0007a0006c0012 | a0001c0001t0003a0001c0001t0016a0001c0001t0017others(3): Show | a0001c0001t0003g0006a0001c0001t0003g0031a0001c0001t0003g0032others(62): Show | 71 | 384 | 0.1849 | 1 | c.*16 others(6): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 24/24 | 1619 | chr7 | TogoVar | |||||
AASS_chr7_122068549_122149249 | 122092724 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(160): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(132): Show | 163 | 384 | 0.4245 | 1 | c.187 others(9): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 17/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122094503 | A | AT | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(68): Show |
a0001a0005a0006 | a0001c0001a0005c0007a0006c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(4): Show | a0001c0001t0001g0306a0001c0001t0003g0006a0001c0001t0003g0031others(62): Show | 71 | 384 | 0.1849 | 1 | c.165 others(10): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 15/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122098872 | T | TA | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG00609.hp2 HG00639.hp1 others(92): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0003a0005c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0030a0001c0001t0001g0035a0001c0001t0001g0043others(84): Show | 95 | 384 | 0.2474 | 1 | c.140 others(7): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 13/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122104297 | T | TA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 1 | c.127 others(10): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122108819 | C | CA | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(66): Show |
a0001a0005a0006 | a0001c0001a0005c0007a0006c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(4): Show | a0001c0001t0001g0053a0001c0001t0001g0115a0001c0001t0001g0157others(60): Show | 69 | 384 | 0.1797 | 1 | c.127 others(10): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122109253 | C | CA | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01069.hp1 others(4): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0057a0001c0001t0001g0135a0001c0001t0002g0214others(4): Show | 7 | 384 | 0.0182 | 1 | c.127 others(10): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122109703 | G | GA | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00733.hp2 others(41): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(33): Show | 44 | 384 | 0.1146 | 1 | c.127 others(10): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122113923 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00597.hp2 others(15): Show |
a0001a0009 | a0001c0001a0001c0003a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0030a0001c0001t0001g0035a0001c0001t0001g0117others(13): Show | 18 | 384 | 0.0469 | 1 | c.104 others(9): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 9/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122131033 | C | CA | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014 | a0001c0001t0001g0088a0001c0001t0001g0108a0001c0001t0001g0315others(3): Show | 6 | 384 | 0.0156 | 1 | c.211 others(9): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 2/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122131337 | C | CA | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00733.hp2 others(41): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(33): Show | 44 | 384 | 0.1146 | 1 | c.211 others(9): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 2/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122134772 | T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(380): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(317): Show | 383 | 384 | 0.9974 | 1 | c.-15 others(9): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122135271 | T | TA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(94): Show |
a0001a0004a0010others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0016others(85): Show | 97 | 384 | 0.2526 | 1 | c.-15 others(9): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122140485 | C | CA | intron_variant | MODIFIER | HG01358.hp2 HG02080.hp2 HG03710.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0116a0001c0001t0002g0224a0001c0001t0002g0225others(10): Show | 13 | 384 | 0.0339 | 1 | c.-16 others(9): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122140877 | T | TA | intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01071.hp1 others(38): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0150a0001c0001t0002g0251a0001c0001t0004g0002others(26): Show | 41 | 384 | 0.1068 | 1 | c.-16 others(9): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122141658 | C | CA | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG00735.hp2 others(23): Show |
a0001a0008 | a0001c0001a0001c0006a0008c0009 | a0001c0001t0002a0001c0006t0028a0008c0009t0002 | a0001c0001t0002g0010a0001c0001t0002g0029a0001c0001t0002g0232others(20): Show | 26 | 384 | 0.0677 | 1 | c.-16 others(9): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36944264 | T | TA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01106.hp2 others(16): Show |
a0001a0002a0005 | a0001c0001a0002c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0022others(16): Show | 19 | 245 | 0.0776 | 1 | c.-48 others(12): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4689 | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36947857 | G | GC | upstream_gene_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0020a0001c0003t0001g0034a0001c0003t0001g0035 | 3 | 245 | 0.0122 | 1 | c.-12 others(12): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 1096 | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36954065 | C | CT | intron_variant | MODIFIER | HG01175.hp1 HG02135.hp2 HG02622.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0081a0001c0001t0001g0082others(17): Show | 20 | 245 | 0.0816 | 1 | c.832 others(8): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 36956979 | G | GA | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02647.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(2): Show | a0001c0001t0001g0081a0001c0001t0001g0121a0001c0001t0001g0122others(9): Show | 12 | 245 | 0.0490 | 1 | c.832 others(9): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 36958170 | C | CT | intron_variant | MODIFIER | HG02109.hp1 HG02135.hp2 HG02293.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(5): Show | a0001c0001t0001g0081a0001c0001t0001g0096a0001c0001t0001g0108others(18): Show | 21 | 245 | 0.0857 | 1 | c.832 others(9): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 36960456 | G | GT | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0064others(3): Show | 6 | 245 | 0.0245 | 1 | c.832 others(9): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 36962565 | A | AT | intron_variant | MODIFIER | HG02109.hp1 HG02135.hp2 HG02293.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0081a0001c0001t0001g0096a0001c0001t0002g0115others(16): Show | 19 | 245 | 0.0776 | 1 | c.832 others(9): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 36964041 | C | CA | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0039others(12): Show | 15 | 245 | 0.0612 | 1 | c.832 others(10): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 36964169 | G | GC | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp1 HG02451.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0019others(6): Show | 9 | 245 | 0.0367 | 1 | c.832 others(10): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 36964170 | C | CT | intron_variant | MODIFIER | HG01071.hp2 HG02809.hp2 HG02895.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0212a0001c0001t0002g0114others(7): Show | 10 | 245 | 0.0408 | 1 | c.832 others(10): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 36964305 | T | TG | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02559.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0014a0001c0001t0001g0041a0001c0001t0001g0042others(9): Show | 12 | 245 | 0.0490 | 1 | c.832 others(10): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 36967861 | C | CT | intron_variant | MODIFIER | HG01106.hp1 HG01175.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0061a0001c0001t0001g0232a0001c0001t0002g0219others(3): Show | 6 | 245 | 0.0245 | 1 | c.832 others(10): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |