| geneid | 144568 |
|---|---|
| ensemblid | ENSG00000166535.20 |
| hgncid | 23336 |
| symbol | A2ML1 |
| name | alpha-2-macroglobulin like 1 |
| refseq_nuc | NM_144670.6 |
| refseq_prot | NP_653271.3 |
| ensembl_nuc | ENST00000299698.12 |
| ensembl_prot | ENSP00000299698.7 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 8822621 |
| end | 8876787 |
| strand | + |
| ver | v1.2 |
| region | chr12:8822621-8876787 |
| region5000 | chr12:8817621-8881787 |
| regionname0 | A2ML1_chr12_8822621_8876787 |
| regionname5000 | A2ML1_chr12_8817621_8881787 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8852296
|
C | A | 0.9511 | 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 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/36 | c.2550C>A | p.Asp850Glu | 2581/5127 | 2550/4365 | 850/1454 | ||
|
chr12:8861159
|
C | T | 0.5054 | missense_variant | MODERATE | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(183): Show |
a0001a0005a0007others(6): Show | a0001c0001a0001c0002a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(180): Show | 186 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/36 | c.3364C>T | p.Arg1122Trp | 3395/5127 | 3364/4365 | 1122/1454 | ||
|
chr12:8863977
|
A | G | 0.9511 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(347): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0002a0001c0006others(62): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(340): Show | 350 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 29/36 | c.3686A>G | p.His1229Arg | 3717/5127 | 3686/4365 | 1229/1454 | ||
|
chr12:8867893
|
A | G | 0.8641 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(315): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0006others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(309): Show | 318 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 30/36 | c.3769A>G | p.Met1257Val | 3800/5127 | 3769/4365 | 1257/1454 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8823305
|
C | T | 0.1549 | synonymous_variant | LOW | HG00544.hp2 HG00597.hp2 HG00609.hp1 others(54): Show |
a0001a0002a0003others(8): Show | a0001c0006a0001c0008a0001c0068others(14): Show | a0001c0006t0002a0001c0008t0001a0001c0008t0002others(20): Show | a0001c0006t0002g0009a0001c0006t0002g0010a0001c0006t0002g0226others(53): Show | 57 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 2/36 | c.186C>T | p.Thr62Thr | 217/5127 | 186/4365 | 62/1454 | ||
|
chr12:8851916
|
G | A | 0.9103 | 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 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | c.2367G>A | p.Pro789Pro | 2398/5127 | 2367/4365 | 789/1454 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8824486
|
G | C | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01934.hp1 others(8): Show |
a0001a0002a0003 | a0001c0006a0001c0008a0002c0004others(3): Show | a0001c0006t0002a0001c0008t0001a0002c0004t0003others(4): Show | a0001c0006t0002g0009a0001c0006t0002g0010a0001c0006t0002g0226others(8): Show | 11 | 368 | 0.0299 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.409+604G>C | ||||||
|
chr12:8825239
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(364): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0002a0001c0006others(68): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(357): Show | 367 | 368 | 0.9973 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.409+1357A>G | ||||||
|
chr12:8826064
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(360): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0002a0001c0006others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(86): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(353): Show | 363 | 368 | 0.9864 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.409+2182T>C | ||||||
|
chr12:8827645
|
G | T | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0009 | 1 | 368 | 0.0027 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.410-2082G>T | ||||||
|
chr12:8827857
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0002a0001c0006others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(255): Show | 265 | 368 | 0.7201 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.410-1870G>C | ||||||
|
chr12:8828395
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(308): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(302): Show | 311 | 368 | 0.8451 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.410-1332C>G | ||||||
|
chr12:8828564
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(304): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0002a0001c0006others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(298): Show | 307 | 368 | 0.8342 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.410-1163C>G | ||||||
|
chr12:8828931
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(333): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(327): Show | 336 | 368 | 0.9130 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.410-796T>C | ||||||
|
chr12:8828935
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(341): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(335): Show | 344 | 368 | 0.9348 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.410-792A>G | ||||||
|
chr12:8829049
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0006others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(290): Show | 299 | 368 | 0.8125 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.410-678C>G | ||||||
|
chr12:8829260
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(333): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(327): Show | 336 | 368 | 0.9130 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.410-467T>C | ||||||
|
chr12:8829333
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(329): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0002a0001c0006others(59): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(323): Show | 332 | 368 | 0.9022 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.410-394A>C | ||||||
|
chr12:8829384
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(333): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(327): Show | 336 | 368 | 0.9130 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.410-343G>C | ||||||
|
chr12:8830112
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(312): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0002a0001c0006others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(306): Show | 315 | 368 | 0.8560 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.462+333C>T | ||||||
|
chr12:8830412
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0002a0001c0006others(50): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(299): Show | 308 | 368 | 0.8370 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.462+644delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8831184
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(300): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0006others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(294): Show | 303 | 368 | 0.8234 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.462+1405C>A | ||||||
|
chr12:8832979
|
C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(292): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0006others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(286): Show | 295 | 368 | 0.8016 | 6 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-1676_463-1671dupTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8833099
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(341): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(335): Show | 344 | 368 | 0.9348 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-1563A>G | ||||||
|
chr12:8833177
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0006others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(303): Show | 312 | 368 | 0.8478 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-1485C>T | ||||||
|
chr12:8833483
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(325): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(319): Show | 328 | 368 | 0.8913 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-1179A>G | ||||||
|
chr12:8833646
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0006others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(303): Show | 312 | 368 | 0.8478 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-1016A>G | ||||||
|
chr12:8833783
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0001c0006others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(258): Show | 265 | 368 | 0.7201 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-879A>G | ||||||
|
chr12:8833957
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(327): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0002a0001c0006others(53): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(321): Show | 330 | 368 | 0.8967 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-705G>C | ||||||
|
chr12:8834954
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(343): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(337): Show | 346 | 368 | 0.9402 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 5/35 | c.483+272T>C | ||||||
|
chr12:8835807
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(345): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0002a0001c0006others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(338): Show | 348 | 368 | 0.9457 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/35 | c.643+141A>C | ||||||
|
chr12:8835946
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(345): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0002a0001c0006others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(338): Show | 348 | 368 | 0.9457 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/35 | c.643+280C>G | ||||||
|
chr12:8836181
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(318): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(312): Show | 321 | 368 | 0.8723 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/35 | c.644-74A>G | ||||||
|
chr12:8836676
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(347): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0002a0001c0006others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(81): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(340): Show | 350 | 368 | 0.9511 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 7/35 | c.728+337A>G | ||||||
|
chr12:8836949
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(346): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0002a0001c0006others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(339): Show | 349 | 368 | 0.9484 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 7/35 | c.729-491G>T | ||||||
|
chr12:8837320
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(313): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0002a0001c0006others(53): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(307): Show | 316 | 368 | 0.8587 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 7/35 | c.729-120A>G | ||||||
|
chr12:8837891
|
GAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(306): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0002a0001c0006others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(300): Show | 309 | 368 | 0.8397 | -2 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 8/35 | c.855+342_855+343delAA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8838217
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(323): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0002a0001c0006others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(317): Show | 326 | 368 | 0.8859 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 8/35 | c.856-119A>G | ||||||
|
chr12:8838650
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0006others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(303): Show | 312 | 368 | 0.8478 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 9/35 | c.970+200C>T | ||||||
|
chr12:8839374
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0006others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(303): Show | 312 | 368 | 0.8478 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1080+152G>A | ||||||
|
chr12:8839402
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(339): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(332): Show | 342 | 368 | 0.9294 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1080+180C>A | ||||||
|
chr12:8839526
|
C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(339): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(332): Show | 342 | 368 | 0.9294 | 1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1080+304_1080+305insT | ||||||
|
chr12:8839534
|
TAGA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0006others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(303): Show | 312 | 368 | 0.8478 | -3 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1080+318_1080+320delAAG | INFO_REALIGN_3_PRIME | |||||
|
chr12:8840272
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(323): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0002a0001c0006others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(316): Show | 326 | 368 | 0.8859 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1080+1050A>G | ||||||
|
chr12:8840357
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(297): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0006others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(291): Show | 300 | 368 | 0.8152 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1081-996delA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8840582
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(339): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(332): Show | 342 | 368 | 0.9294 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1081-787G>A | ||||||
|
chr12:8841009
|
A | AGGAAGGA others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(83): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(25): Show | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0114others(83): Show | 86 | 368 | 0.2337 | 20 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1081-357_1081-356insAGGAAGGAAGGAAGGACGGA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8841013
|
CGGAAGGA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(316): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(309): Show | 319 | 368 | 0.8669 | -8 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1081-339_1081-332delGGAAGGAA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8841616
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(339): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(332): Show | 342 | 368 | 0.9294 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1248+80T>C | ||||||
|
chr12:8842122
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(179): Show |
a0001a0002a0004others(13): Show | a0001c0001a0001c0002a0001c0006others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0040a0001c0001t0001g0064a0001c0001t0001g0065others(176): Show | 182 | 368 | 0.4946 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1248+586A>G | ||||||
|
chr12:8842394
|
AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(160): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0114others(157): Show | 163 | 368 | 0.4429 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1249-734delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8842426
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(183): Show |
a0001a0002a0004others(17): Show | a0001c0001a0001c0002a0001c0006others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0071others(180): Show | 186 | 368 | 0.5054 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1249-708A>G | ||||||
|
chr12:8842542
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(354): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0002a0001c0006others(66): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(347): Show | 357 | 368 | 0.9701 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1249-592T>A | ||||||
|
chr12:8845861
|
A | T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(177): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0002a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(173): Show | 180 | 368 | 0.4891 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 13/35 | c.1538-216A>T | ||||||
|
chr12:8845865
|
T | TAAATA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(258): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0006others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(254): Show | 261 | 368 | 0.7092 | 5 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 13/35 | c.1538-188_1538-184dupTAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8846609
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(360): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0002a0001c0006others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(86): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(353): Show | 363 | 368 | 0.9864 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 14/35 | c.1683+387T>C | ||||||
|
chr12:8846810
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0006others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(303): Show | 312 | 368 | 0.8478 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 14/35 | c.1683+605delA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8847098
|
C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(80): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(26): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0134others(79): Show | 83 | 368 | 0.2255 | 1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 14/35 | c.1684-429dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8847245
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0006others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(270): Show | 278 | 368 | 0.7554 | 1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 14/35 | c.1684-285dupA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8847987
|
GA | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(194): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0006others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(189): Show | 197 | 368 | 0.5353 |