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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8849393 | C | G | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(39): Show |
a0002a0004a0006others(14): Show | a0002c0004a0002c0061a0004c0014others(22): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(23): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(38): Show | 42 | 368 | 0.1141 | 0 | c.202 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 16/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8849613 | G | A | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 368 | 0.0027 | 0 | c.202 others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 16/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8849664 | A | C | splice_region_variant others(1): Show |
LOW | HG02895.hp1 | a0004 | a0004c0045 | a0004c0045t0004 | a0004c0045t0004g0123 | 1 | 368 | 0.0027 | 0 | c.202 others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 16/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8849672 | G | T | missense_variant | MODERATE | HG02622.hp2 | a0026 | a0026c0056 | a0026c0056t0003 | a0026c0056t0003g0133 | 1 | 368 | 0.0027 | 0 | c.203 others(4): Show |
p.Val others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 17/36 | 2063/5127 | 2032/4365 | 678/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8849815 | T | C | intron_variant | MODIFIER | HG02615.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271a0001c0001t0001g0272 | 2 | 368 | 0.0054 | 0 | c.211 others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 17/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8850237 | T | C | missense_variant | MODERATE | NA18989.hp1 | a0037 | a0037c0044 | a0037c0044t0002 | a0037c0044t0002g0112 | 1 | 368 | 0.0027 | 0 | c.219 others(4): Show |
p.Phe others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/36 | 2228/5127 | 2197/4365 | 733/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8850324 | C | T | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0100a0001c0001t0008g0101 | 2 | 368 | 0.0054 | 0 | c.223 others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8850336 | A | G | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(39): Show |
a0002a0004a0006others(14): Show | a0002c0004a0002c0061a0004c0014others(22): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(23): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(38): Show | 42 | 368 | 0.1141 | 0 | c.223 others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8850431 | T | A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(39): Show |
a0002a0004a0006others(14): Show | a0002c0004a0002c0061a0004c0014others(22): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(23): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(38): Show | 42 | 368 | 0.1141 | 0 | c.223 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8850432 | A | T | intron_variant | MODIFIER | HG02148.hp2 | a0004 | a0004c0047 | a0004c0047t0004 | a0004c0047t0004g0093 | 1 | 368 | 0.0027 | 0 | c.223 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8850473 | T | C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02717.hp1 others(2): Show |
a0010a0032 | a0010c0020a0010c0065a0032c0041 | a0010c0020t0005a0010c0065t0005a0032c0041t0001 | a0010c0020t0005g0023a0010c0020t0005g0024a0010c0020t0005g0037others(2): Show | 5 | 368 | 0.0136 | 0 | c.223 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8850524 | G | A | intron_variant | MODIFIER | HG01074.hp1 HG02965.hp2 HG03579.hp1 |
a0006 | a0006c0011 | a0006c0011t0005 | a0006c0011t0005g0127a0006c0011t0005g0164a0006c0011t0005g0220 | 3 | 368 | 0.0082 | 0 | c.223 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8850549 | G | T | intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0067 | 1 | 368 | 0.0027 | 0 | c.223 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8850769 | G | T | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(11): Show |
a0002a0004a0011others(4): Show | a0002c0004a0004c0029a0004c0045others(6): Show | a0002c0004t0003a0004c0029t0004a0004c0045t0004others(6): Show | a0002c0004t0003g0124a0004c0029t0004g0007a0004c0045t0004g0123others(10): Show | 14 | 368 | 0.0380 | 0 | c.223 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8850936 | G | T | intron_variant | MODIFIER | HG03225.hp2 NA21309.hp1 |
a0002a0016 | a0002c0061a0016c0043 | a0002c0061t0004a0016c0043t0002 | a0002c0061t0004g0314a0016c0043t0002g0126 | 2 | 368 | 0.0054 | 0 | c.223 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8850986 | G | A | intron_variant | MODIFIER | HG02257.hp2 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0041 | 1 | 368 | 0.0027 | 0 | c.223 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8851269 | A | T | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(12): Show |
a0002a0004a0011others(5): Show | a0002c0004a0004c0029a0004c0045others(7): Show | a0002c0004t0003a0004c0029t0004a0004c0045t0004others(7): Show | a0002c0004t0003g0124a0004c0029t0004g0007a0004c0045t0004g0123others(11): Show | 15 | 368 | 0.0408 | 0 | c.223 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8851304 | T | C | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 368 | 0.0027 | 0 | c.223 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8851347 | A | T | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 368 | 0.0027 | 0 | c.223 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8851401 | A | G | intron_variant | MODIFIER | HG03225.hp2 NA21309.hp1 |
a0002a0016 | a0002c0061a0016c0043 | a0002c0061t0004a0016c0043t0002 | a0002c0061t0004g0314a0016c0043t0002g0126 | 2 | 368 | 0.0054 | 0 | c.223 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8851769 | C | T | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 368 | 0.0027 | 0 | c.223 others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8851789 | C | T | missense_variant | MODERATE | HG00673.hp2 | a0027 | a0027c0070 | a0027c0070t0001 | a0027c0070t0001g0245 | 1 | 368 | 0.0027 | 0 | c.224 others(4): Show |
p.Ser others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | 2271/5127 | 2240/4365 | 747/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8851792 | G | A | missense_variant | MODERATE | HG00544.hp1 HG03688.hp2 NA18943.hp1 others(4): Show |
a0007 | a0007c0013a0007c0034a0007c0062 | a0007c0013t0001a0007c0034t0001a0007c0062t0002 | a0007c0013t0001g0158a0007c0013t0001g0172a0007c0013t0001g0211others(4): Show | 7 | 368 | 0.0190 | 0 | c.224 others(4): Show |
p.Gly others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | 2274/5127 | 2243/4365 | 748/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8851801 | C | T | missense_variant | MODERATE | HG02280.hp1 HG02572.hp2 HG03471.hp2 others(2): Show |
a0016a0036a0038 | a0016c0030a0016c0043a0036c0055others(1): Show | a0016c0030t0002a0016c0043t0002a0036c0055t0004others(1): Show | a0016c0030t0002g0022a0016c0030t0002g0025a0016c0043t0002g0126others(2): Show | 5 | 368 | 0.0136 | 0 | c.225 others(4): Show |
p.Ala others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | 2283/5127 | 2252/4365 | 751/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8851844 | G | A | synonymous_variant | LOW | HG02055.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
a0001a0004a0012others(1): Show | a0001c0046a0004c0045a0012c0022others(1): Show | a0001c0046t0001a0004c0045t0004a0012c0022t0007others(1): Show | a0001c0046t0001g0236a0004c0045t0004g0123a0012c0022t0007g0018others(3): Show | 6 | 368 | 0.0163 | 0 | c.229 others(4): Show |
p.Ala others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | 2326/5127 | 2295/4365 | 765/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8851916 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(332): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(326): Show | 335 | 368 | 0.9103 | 0 | c.236 others(4): Show |
p.Pro others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | 2398/5127 | 2367/4365 | 789/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8852071 | G | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(208): Show |
a0001a0002a0005others(17): Show | a0001c0001a0001c0002a0001c0006others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(206): Show | 211 | 368 | 0.5734 | 0 | c.246 others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8852296 | C | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(347): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(340): Show | 350 | 368 | 0.9511 | 0 | c.255 others(4): Show |
p.Asp others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/36 | 2581/5127 | 2550/4365 | 850/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8852452 | T | C | intron_variant | MODIFIER | HG01261.hp2 | a0004 | a0004c0042 | a0004c0042t0002 | a0004c0042t0002g0013 | 1 | 368 | 0.0027 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8852617 | A | G | intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0348 | 1 | 368 | 0.0027 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8852737 | C | T | intron_variant | MODIFIER | HG03688.hp2 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0172 | 1 | 368 | 0.0027 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8852841 | G | A | intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0346 | 1 | 368 | 0.0027 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8853001 | T | C | intron_variant | MODIFIER | HG02040.hp2 NA18941.hp1 NA18972.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008a0001c0001t0003g0151a0001c0001t0003g0157others(1): Show | 4 | 368 | 0.0109 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8853182 | C | T | intron_variant | MODIFIER | HG01243.hp1 | a0011 | a0011c0016 | a0011c0016t0006 | a0011c0016t0006g0341 | 1 | 368 | 0.0027 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8853281 | T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(359): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0002a0001c0006others(66): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(352): Show | 362 | 368 | 0.9837 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8853283 | C | T | intron_variant | MODIFIER | HG01261.hp2 | a0004 | a0004c0042 | a0004c0042t0002 | a0004c0042t0002g0013 | 1 | 368 | 0.0027 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8853341 | T | A | intron_variant | MODIFIER | HG00621.hp1 HG02071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135a0001c0001t0001g0136 | 2 | 368 | 0.0054 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8853377 | T | C | intron_variant | MODIFIER | HG01891.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0202 | 1 | 368 | 0.0027 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8853523 | A | G | intron_variant | MODIFIER | HG01074.hp1 HG02965.hp2 HG03579.hp1 |
a0006 | a0006c0011 | a0006c0011t0005 | a0006c0011t0005g0127a0006c0011t0005g0164a0006c0011t0005g0220 | 3 | 368 | 0.0082 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8853764 | A | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(205): Show |
a0001a0002a0005others(11): Show | a0001c0001a0001c0002a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(203): Show | 208 | 368 | 0.5652 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8853998 | T | C | intron_variant | MODIFIER | HG01074.hp1 HG02965.hp2 HG03579.hp1 |
a0006 | a0006c0011 | a0006c0011t0005 | a0006c0011t0005g0127a0006c0011t0005g0164a0006c0011t0005g0220 | 3 | 368 | 0.0082 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8854019 | C | G | intron_variant | MODIFIER | NA18968.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0287 | 2 | 368 | 0.0054 | 0 | c.259 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8854082 | T | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02145.hp2 others(2): Show |
a0012a0025a0038 | a0012c0022a0025c0057a0038c0039 | a0012c0022t0007a0025c0057t0007a0038c0039t0002 | a0012c0022t0007g0018a0012c0022t0007g0036a0012c0022t0007g0042others(2): Show | 5 | 368 | 0.0136 | 0 | c.259 others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8854091 | C | T | intron_variant | MODIFIER | HG02083.hp2 NA18941.hp2 NA18954.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0008t0001 | a0001c0001t0001g0140a0001c0001t0002g0260a0001c0008t0001g0269 | 3 | 368 | 0.0082 | 0 | c.259 others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8854224 | C | T | missense_variant | MODERATE | HG01952.hp2 | a0029 | a0029c0050 | a0029c0050t0001 | a0029c0050t0001g0203 | 1 | 368 | 0.0027 | 0 | c.268 others(4): Show |
p.Thr others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 21/36 | 2718/5127 | 2687/4365 | 896/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8854243 | C | T | synonymous_variant | LOW | HG03927.hp1 | a0001 | a0001c0068 | a0001c0068t0002 | a0001c0068t0002g0333 | 1 | 368 | 0.0027 | 0 | c.270 others(4): Show |
p.Leu others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 21/36 | 2737/5127 | 2706/4365 | 902/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8854435 | C | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(207): Show |
a0001a0002a0004others(13): Show | a0001c0001a0001c0002a0001c0006others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(205): Show | 210 | 368 | 0.5707 | 0 | c.271 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 21/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8854565 | T | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(81): Show |
a0001a0018a0024others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0001others(8): Show | a0001c0001t0002g0146a0001c0001t0002g0180a0001c0001t0002g0184others(80): Show | 84 | 368 | 0.2283 | 0 | c.271 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 21/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8854607 | G | A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 368 | 0.0027 | 0 | c.271 others(8): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 21/35 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8854843 | C | G | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0355 | 1 | 368 | 0.0027 | 0 | c.276 others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 22/35 | chr12 | TogoVar |