| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8835642
|
G | C | 0.0353 | missense_variant | MODERATE | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0008a0017a0038others(2): Show | a0008c0012a0008c0024a0008c0038others(4): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(6): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(10): Show | 13 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/36 | c.619G>C | p.Gly207Arg | 650/5127 | 619/4365 | 207/1454 | ||
|
chr12:8841397
|
T | C | 0.0326 | missense_variant | MODERATE | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(9): Show |
a0008a0017a0039others(1): Show | a0008c0012a0008c0024a0008c0038others(3): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(5): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(9): Show | 12 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/36 | c.1109T>C | p.Phe370Ser | 1140/5127 | 1109/4365 | 370/1454 | ||
|
chr12:8843328
|
AAG | A | 0.0272 | frameshift_variant | HIGH | HG01884.hp2 HG02559.hp2 HG02965.hp1 others(7): Show |
a0008a0013 | a0008c0012a0008c0024a0008c0038others(1): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(2): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(7): Show | 10 | 368 | -2 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 12/36 | c.1444_1445delAG | p.Ser482fs | 1475/5127 | 1444/4365 | 482/1454 | ||
|
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 | ||
|
chr12:8863977
|
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8841389
|
T | C | 0.0326 | synonymous_variant | LOW | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(9): Show |
a0008a0017a0039others(1): Show | a0008c0012a0008c0024a0008c0038others(3): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(5): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(9): Show | 12 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/36 | c.1101T>C | p.Asp367Asp | 1132/5127 | 1101/4365 | 367/1454 | ||
|
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8824168
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(204): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0008others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064others(200): Show | 207 | 368 | 0.5625 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.409+286A>G | ||||||
|
chr12:8824184
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(94): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0060others(19): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(23): Show | a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064others(90): Show | 97 | 368 | 0.2636 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.409+302T>C | ||||||
|
chr12:8824222
|
GT | G | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00642.hp2 others(40): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0060others(12): Show | a0001c0001t0001a0001c0002t0002a0001c0060t0002others(13): Show | a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064others(39): Show | 43 | 368 | 0.1169 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.409+367delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8824740
|
AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(100): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0035others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0125a0001c0001t0001g0131a0001c0001t0001g0134others(100): Show | 103 | 368 | 0.2799 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.409+865delT | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr12:8828395
|
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 | ||||||
|
chr12:8829260
|
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 | |||||
|
chr12:8830770
|
C | T | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0008a0017a0038others(2): Show | a0008c0012a0008c0024a0008c0038others(4): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(6): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(10): Show | 13 | 368 | 0.0353 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.462+991C>T | ||||||
|
chr12:8830941
|
CT | C | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01074.hp1 others(31): Show |
a0001a0003a0004others(12): Show | a0001c0001a0001c0002a0003c0005others(17): Show | a0001c0001t0001a0001c0002t0002a0003c0005t0003others(20): Show | a0001c0001t0001g0125a0001c0001t0001g0161a0001c0001t0001g0176others(31): Show | 34 | 368 | 0.0924 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.462+1179delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8831174
|
C | T | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01168.hp1 others(32): Show |
a0001a0002a0004others(13): Show | a0001c0001a0002c0061a0004c0014others(19): Show | a0001c0001t0001a0002c0061t0004a0004c0014t0004others(21): Show | a0001c0001t0001g0125a0001c0001t0001g0161a0001c0001t0001g0216others(32): Show | 35 | 368 | 0.0951 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.462+1395C>T | ||||||
|
chr12:8831205
|
G | T | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01168.hp1 others(27): Show |
a0001a0002a0004others(11): Show | a0001c0001a0002c0061a0004c0014others(16): Show | a0001c0001t0001a0002c0061t0004a0004c0014t0004others(18): Show | a0001c0001t0001g0125a0001c0001t0001g0161a0001c0001t0001g0216others(27): Show | 30 | 368 | 0.0815 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.462+1426G>T | ||||||
|
chr12:8831677
|
T | C | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(16): Show |
a0004a0008a0014others(5): Show | a0004c0014a0004c0040a0004c0064others(9): Show | a0004c0014t0004a0004c0040t0004a0004c0064t0002others(11): Show | a0004c0014t0004g0237a0004c0014t0004g0238a0004c0040t0004g0219others(16): Show | 19 | 368 | 0.0516 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.462+1898T>C | ||||||
|
chr12:8831757
|
G | GT | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02055.hp2 others(16): Show |
a0001a0004a0008others(6): Show | a0001c0001a0004c0040a0008c0012others(8): Show | a0001c0001t0001a0004c0040t0004a0008c0012t0002others(10): Show | a0001c0001t0001g0206a0004c0040t0004g0219a0008c0012t0002g0043others(16): Show | 19 | 368 | 0.0516 | 1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.462+1987dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8831771
|
C | T | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(11): Show |
a0004a0008a0017others(3): Show | a0004c0040a0008c0012a0008c0024others(5): Show | a0004c0040t0004a0008c0012t0002a0008c0024t0003others(7): Show | a0004c0040t0004g0219a0008c0012t0002g0043a0008c0012t0002g0076others(11): Show | 14 | 368 | 0.0380 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.462+1992C>T | ||||||
|
chr12:8831775
|
G | A | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(11): Show |
a0004a0008a0017others(3): Show | a0004c0040a0008c0012a0008c0024others(5): Show | a0004c0040t0004a0008c0012t0002a0008c0024t0003others(7): Show | a0004c0040t0004g0219a0008c0012t0002g0043a0008c0012t0002g0076others(11): Show | 14 | 368 | 0.0380 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.462+1996G>A | ||||||
|
chr12:8831824
|
G | A | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(16): Show |
a0004a0008a0014others(5): Show | a0004c0014a0004c0040a0004c0064others(9): Show | a0004c0014t0004a0004c0040t0004a0004c0064t0002others(11): Show | a0004c0014t0004g0237a0004c0014t0004g0238a0004c0040t0004g0219others(16): Show | 19 | 368 | 0.0516 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.462+2045G>A | ||||||
|
chr12:8832208
|
T | G | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0008a0017a0038others(2): Show | a0008c0012a0008c0024a0008c0038others(4): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(6): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(10): Show | 13 | 368 | 0.0353 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.462+2429T>G | ||||||
|
chr12:8832232
|
A | G | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0008a0017a0038others(2): Show | a0008c0012a0008c0024a0008c0038others(4): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(6): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(10): Show | 13 | 368 | 0.0353 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-2430A>G | ||||||
|
chr12:8832277
|
G | A | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0008a0017a0038others(2): Show | a0008c0012a0008c0024a0008c0038others(4): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(6): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(10): Show | 13 | 368 | 0.0353 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-2385G>A | ||||||
|
chr12:8832298
|
C | A | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0008a0017a0038others(2): Show | a0008c0012a0008c0024a0008c0038others(4): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(6): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(10): Show | 13 | 368 | 0.0353 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-2364C>A | ||||||
|
chr12:8832386
|
T | C | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0008a0017a0038others(2): Show | a0008c0012a0008c0024a0008c0038others(4): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(6): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(10): Show | 13 | 368 | 0.0353 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-2276T>C | ||||||
|
chr12:8832576
|
A | T | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01169.hp1 others(26): Show |
a0001a0004a0006others(11): Show | a0001c0001a0004c0014a0004c0064others(15): Show | a0001c0001t0001a0004c0014t0004a0004c0064t0002others(17): Show | a0001c0001t0001g0125a0001c0001t0001g0161a0004c0014t0004g0237others(26): Show | 29 | 368 | 0.0788 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-2086A>T | ||||||
|
chr12:8832728
|
C | G | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02055.hp1 others(14): Show |
a0002a0004a0008others(6): Show | a0002c0061a0004c0014a0008c0012others(8): Show | a0002c0061t0004a0004c0014t0004a0008c0012t0002others(10): Show | a0002c0061t0004g0314a0004c0014t0004g0215a0008c0012t0002g0043others(14): Show | 17 | 368 | 0.0462 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-1934C>G | ||||||
|
chr12:8832979
|
C | CTTTT | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02055.hp1 others(16): Show |
a0004a0008a0014others(5): Show | a0004c0014a0004c0064a0008c0012others(8): Show | a0004c0014t0004a0004c0064t0002a0008c0012t0002others(10): Show | a0004c0014t0004g0215a0004c0014t0004g0237a0004c0014t0004g0238others(16): Show | 19 | 368 | 0.0516 | 4 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-1674_463-1671dupTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8833004
|
C | G | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01169.hp1 others(31): Show |
a0002a0004a0006others(12): Show | a0002c0003a0002c0061a0004c0014others(19): Show | a0002c0003t0001a0002c0003t0002a0002c0061t0004others(22): Show | a0002c0003t0001g0304a0002c0003t0002g0347a0002c0061t0004g0314others(31): Show | 34 | 368 | 0.0924 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-1658C>G | ||||||
|
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 | ||||||
|
chr12:8833483
|
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 | ||||||
|
chr12:8833859
|
A | G | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0008a0017a0038others(2): Show | a0008c0012a0008c0024a0008c0038others(4): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(6): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(10): Show | 13 | 368 | 0.0353 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-803A>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 | ||||||
|
chr12:8834653
|
C | G | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0008a0017a0038others(2): Show | a0008c0012a0008c0024a0008c0038others(4): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(6): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(10): Show | 13 | 368 | 0.0353 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | c.463-9C>G | ||||||
|
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 | ||||||
|
chr12:8835874
|
G | A | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0008a0017a0038others(2): Show | a0008c0012a0008c0024a0008c0038others(4): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(6): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(10): Show | 13 | 368 | 0.0353 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/35 | c.643+208G>A | ||||||
|
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 | ||||||
|
chr12:8836012
|
C | CA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp2 others(52): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0006others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0040a0001c0001t0001g0135a0001c0001t0001g0136others(52): Show | 55 | 368 | 0.1495 | 1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/35 | c.644-221dupA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8836481
|
CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(76): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0006others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(33): Show | a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0116others(74): Show | 79 | 368 | 0.2147 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 7/35 | c.728+161delT | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr12:8837631
|
C | T | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0008a0017a0038others(2): Show | a0008c0012a0008c0024a0008c0038others(4): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(6): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(10): Show | 13 | 368 | 0.0353 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 8/35 | c.855+65C>T | ||||||
|
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 | ||||||
|
chr12:8838914
|
TA | T | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01168.hp2 others(33): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(24): Show | a0001c0001t0001g0071a0001c0001t0003g0008a0001c0001t0003g0157others(32): Show | 36 | 368 | 0.0978 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 9/35 | c.971-177delA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8838934
|
A | G | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0008a0017a0038others(2): Show | a0008c0012a0008c0024a0008c0038others(4): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(6): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(10): Show | 13 | 368 | 0.0353 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 9/35 | c.971-179A>G | ||||||
|
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 | ||||||
|
chr12:8840582
|
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 | ||||||
|
chr12:8840978
|
A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01884.hp2 HG02738.hp1 others(2): Show |
a0003a0008a0014 | a0003c0005a0003c0010a0008c0012others(1): Show | a0003c0005t0003a0003c0010t0003a0008c0012t0002others(1): Show | a0003c0005t0003g0083a0003c0010t0003g0084a0008c0012t0002g0043others(2): Show | 5 | 368 | 0.0136 | 24 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1081-380_1081-357dupAGGAAGGAAGGAAGGAAGGAAGGA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8841013
|
C | CGGAA | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(13): Show |
a0004a0008a0017others(5): Show | a0004c0040a0008c0012a0008c0024others(7): Show | a0004c0040t0004a0008c0012t0002a0008c0024t0003others(9): Show | a0004c0040t0004g0219a0008c0012t0002g0043a0008c0012t0002g0076others(13): Show | 16 | 368 | 0.0435 | 4 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1081-335_1081-332dupGGAA | 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 | ||||||
|
chr12:8842022
|
G | A | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02559.hp2 others(7): Show |
a0008a0017a0038 | a0008c0012a0008c0024a0008c0038others(2): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(4): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(7): Show | 10 | 368 | 0.0272 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1248+486G>A | ||||||
|
chr12:8842367
|
T | C | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01884.hp1 others(47): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(23): Show | a0001c0001t0001g0071a0001c0001t0001g0244a0001c0001t0006g0016others(47): Show | 50 | 368 | 0.1359 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1249-767T>C | ||||||
|
chr12:8842443
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(133): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0006others(33): Show | a0001c0001t0001a0001c0002t0002a0001c0006t0002others(42): Show | a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0116others(131): Show | 136 | 368 | 0.3696 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1249-691T>C | ||||||
|
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 | ||||||
|
chr12:8842615
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(156): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0006others(34): Show | a0001c0001t0001a0001c0002t0002a0001c0006t0002others(43): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(153): Show | 159 | 368 | 0.4321 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1249-519C>T | ||||||
|
chr12:8842927
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0006others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(41): Show | a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0071others(135): Show | 141 | 368 | 0.3832 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1249-207C>G | ||||||
|
chr12:8843370
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(76): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0006a0001c0060others(17): Show | a0001c0002t0002a0001c0006t0002a0001c0060t0002others(23): Show | a0001c0002t0002g0050a0001c0002t0002g0051a0001c0002t0002g0072others(74): Show | 79 | 368 | 0.2147 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 12/35 | c.1476+9G>A | ||||||
|
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 | |||||
|
chr12:8847245
|
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 | |||||
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chr12:8847987
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G | GA | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01884.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0008a0002c0003a0003c0005others(3): Show | a0001c0008t0002a0002c0003t0001a0003c0005t0003others(3): Show | a0001c0008t0002g0358a0002c0003t0001g0089a0003c0005t0003g0091others(5): Show | 8 | 368 | 0.0217 | 1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 15/35 | c.1833+305dupA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8852071
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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 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/35 | c.2463+59G>C | ||||||
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chr12:8853281
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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 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | c.2591-847T>C | ||||||
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chr12:8853764
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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 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | c.2591-364A>G | ||||||
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chr12:8854435
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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 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 21/35 | c.2712+186C>G | ||||||
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chr12:8854629
|
GAGTTCTT others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(206): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0002a0001c0006others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(204): Show | 209 | 368 | 0.5679 | -16 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 21/35 | c.2713-147_2713-132delTCTTCTGAGCTTCAGT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8854896
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A | AT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(201): Show |
a0001a0002a0005others(14): Show | a0001c0001a0001c0002a0001c0006others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(199): Show | 204 | 368 | 0.5544 | 1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 22/35 | c.2764+81dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8855722
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G | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(207): Show |
a0001a0002a0005others(11): Show | a0001c0001a0001c0002a0001c0006others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(205): Show | 210 | 368 | 0.5707 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 23/35 | c.2848+130G>C | ||||||
|
chr12:8856013
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G | T | 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 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 23/35 | c.2848+421G>T | ||||||
|
chr12:8856898
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C | CTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0002a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(188): Show | 193 | 368 | 0.5245 | 2 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 23/35 | c.2849-248_2849-247dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8858916
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G | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(208): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0002a0001c0006others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(206): Show | 211 | 368 | 0.5734 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 26/35 | c.3264+814G>T | ||||||
|
chr12:8859925
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C | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(208): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0002a0001c0006others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(206): Show |