| geneid | 2 |
|---|---|
| ensemblid | ENSG00000175899.15 |
| hgncid | 7 |
| symbol | A2M |
| name | alpha-2-macroglobulin |
| refseq_nuc | NM_000014.6 |
| refseq_prot | NP_000005.3 |
| ensembl_nuc | ENST00000318602.12 |
| ensembl_prot | ENSP00000323929.8 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 9067708 |
| end | 9115919 |
| strand | - |
| ver | v1.2 |
| region | chr12:9067708-9115919 |
| region5000 | chr12:9062708-9120919 |
| regionname0 | A2M_chr12_9067708_9115919 |
| regionname5000 | A2M_chr12_9062708_9120919 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:9079672
|
T | C | 0.1958 | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(62): Show |
a0002a0009a0015 | a0002c0002a0002c0010a0009c0012others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0010t0002others(2): Show | a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0002g0004others(51): Show | 65 | 332 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 24/36 | c.2998A>G | p.Ile1000Val | 3068/4610 | 2998/4425 | 1000/1474 | ||
|
chr12:9095637
|
T | C | 0.9910 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(272): Show | 329 | 332 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 16/36 | c.1915A>G | p.Asn639Asp | 1985/4610 | 1915/4425 | 639/1474 |
| 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 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:9115877
|
A | C | 0.4368 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 1/36 | c.-28T>G | 28 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:9068133
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(90): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0022others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0207a0001c0001t0002g0005a0001c0001t0002g0041others(76): Show | 93 | 332 | 0.2801 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 35/35 | c.4408+50C>T | ||||||
|
chr12:9068603
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(141): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0207a0001c0001t0002g0002a0001c0001t0002g0005others(118): Show | 144 | 332 | 0.4337 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 34/35 | c.4366+137C>T | ||||||
|
chr12:9069201
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(84): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(7): Show | a0001c0001t0001g0207a0001c0001t0002g0005a0001c0001t0002g0088others(70): Show | 87 | 332 | 0.2621 | -1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 33/35 | c.4264-360delT | ||||||
|
chr12:9069501
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(90): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0022others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0207a0001c0001t0002g0005a0001c0001t0002g0041others(76): Show | 93 | 332 | 0.2801 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 33/35 | c.4263+244C>G | ||||||
|
chr12:9069690
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(53): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0207a0002c0002t0001g0210a0002c0002t0001g0211others(43): Show | 56 | 332 | 0.1687 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 33/35 | c.4263+55G>A | ||||||
|
chr12:9070306
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(79): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0022others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0207a0001c0001t0002g0041a0001c0001t0002g0042others(67): Show | 82 | 332 | 0.2470 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 32/35 | c.4194+182T>C | ||||||
|
chr12:9070825
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00609.hp2 others(91): Show |
a0001a0002a0013others(2): Show | a0001c0001a0001c0005a0001c0015others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0158a0001c0001t0001g0162a0001c0001t0001g0207others(77): Show | 94 | 332 | 0.2831 | 1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 31/35 | c.4104-248dupA | ||||||
|
chr12:9070978
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(55): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0207a0002c0002t0001g0210a0002c0002t0001g0211others(45): Show | 58 | 332 | 0.1747 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 31/35 | c.4104-400C>A | ||||||
|
chr12:9071039
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(90): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0022others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0207a0001c0001t0002g0005a0001c0001t0002g0041others(76): Show | 93 | 332 | 0.2801 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 31/35 | c.4104-461A>G | ||||||
|
chr12:9071100
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(90): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0022others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0207a0001c0001t0002g0005a0001c0001t0002g0041others(76): Show | 93 | 332 | 0.2801 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 31/35 | c.4104-522C>T | ||||||
|
chr12:9071357
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(59): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0002c0010others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0207a0002c0002t0001g0210a0002c0002t0001g0211others(49): Show | 62 | 332 | 0.1868 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 31/35 | c.4104-779G>A | ||||||
|
chr12:9071433
|
T | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(120): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0009a0001c0022others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0002others(7): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0020others(96): Show | 123 | 332 | 0.3705 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 31/35 | c.4104-855A>T | ||||||
|
chr12:9073628
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(58): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0207a0002c0002t0001g0210a0002c0002t0001g0211others(48): Show | 61 | 332 | 0.1837 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 29/35 | c.3757-757C>T | ||||||
|
chr12:9074087
|
TAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(86): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(6): Show | a0001c0001t0001g0021a0001c0001t0001g0148a0001c0001t0001g0149others(74): Show | 89 | 332 | 0.2681 | -4 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 29/35 | c.3756+469_3756+472delTTTT | ||||||
|
chr12:9074365
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(105): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0005a0001c0022others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(9): Show | a0001c0001t0001g0008a0001c0001t0001g0025a0001c0001t0001g0030others(87): Show | 108 | 332 | 0.3253 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 29/35 | c.3756+195C>T | ||||||
|
chr12:9074462
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(82): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0005a0001c0022others(4): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(5): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(68): Show | 85 | 332 | 0.2560 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 29/35 | c.3756+98A>T | ||||||
|
chr12:9075191
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(14): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3533-408G>C | ||||||
|
chr12:9075272
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3533-489A>T | ||||||
|
chr12:9075428
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3533-645A>C | ||||||
|
chr12:9075435
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3533-652T>C | ||||||
|
chr12:9075659
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3533-876A>G | ||||||
|
chr12:9075702
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3533-919A>G | ||||||
|
chr12:9075838
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3532+918A>G | ||||||
|
chr12:9076035
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3532+721G>A | ||||||
|
chr12:9076048
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3532+708A>G | ||||||
|
chr12:9076227
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3532+529T>C | ||||||
|
chr12:9076561
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3532+195C>T | ||||||
|
chr12:9076574
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3532+182G>A | ||||||
|
chr12:9077033
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 27/35 | c.3352-97G>A | ||||||
|
chr12:9077442
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0022t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 26/35 | c.3277-22G>A | ||||||
|
chr12:9077535
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(89): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0022others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(8): Show | a0001c0001t0002g0005a0001c0001t0002g0041a0001c0001t0002g0042others(75): Show | 92 | 332 | 0.2771 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 26/35 | c.3277-115C>T | ||||||
|
chr12:9077976
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(89): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0022others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(8): Show | a0001c0001t0002g0005a0001c0001t0002g0041a0001c0001t0002g0042others(75): Show | 92 | 332 | 0.2771 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 25/35 | c.3120-119C>A | ||||||
|
chr12:9078066
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(89): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0022others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(8): Show | a0001c0001t0002g0005a0001c0001t0002g0041a0001c0001t0002g0042others(75): Show | 92 | 332 | 0.2771 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 25/35 | c.3120-209A>T | ||||||
|
chr12:9078110
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(89): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0022others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(8): Show | a0001c0001t0002g0005a0001c0001t0002g0041a0001c0001t0002g0042others(75): Show | 92 | 332 | 0.2771 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 25/35 | c.3120-253G>A | ||||||
|
chr12:9078136
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(89): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0022others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(8): Show | a0001c0001t0002g0005a0001c0001t0002g0041a0001c0001t0002g0042others(75): Show | 92 | 332 | 0.2771 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 25/35 | c.3120-279C>T | ||||||
|
chr12:9078282
|
A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(139): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(116): Show | 142 | 332 | 0.4277 | 1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 25/35 | c.3120-426_3120-425insG | ||||||
|
chr12:9078694
|
G | C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0110a0002c0002t0002g0112a0002c0002t0002g0122 | 3 | 332 | 0.0090 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 25/35 | c.3119+550C>G | ||||||
|
chr12:9079042
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(56): Show |
a0002a0009 | a0002c0002a0009c0012 | a0002c0002t0001a0002c0002t0002a0009c0012t0002 | a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0002g0004others(45): Show | 59 | 332 | 0.1777 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 25/35 | c.3119+202A>G | ||||||
|
chr12:9080816
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(14): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-639C>T | ||||||
|
chr12:9080956
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(73): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0015others(6): Show | a0001c0001t0002a0001c0005t0002a0001c0015t0002others(7): Show | a0001c0001t0002g0141a0001c0005t0002g0019a0001c0005t0002g0134others(61): Show | 76 | 332 | 0.2289 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-779G>A | ||||||
|
chr12:9081413
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(140): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(117): Show | 143 | 332 | 0.4307 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-1236C>A | ||||||
|
chr12:9081502
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(84): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0015others(6): Show | a0001c0001t0002a0001c0005t0002a0001c0015t0002others(7): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(70): Show | 87 | 332 | 0.2621 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-1325C>T | ||||||
|
chr12:9082621
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(14): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-2444A>G | ||||||
|
chr12:9082831
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(90): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0015others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(9): Show | a0001c0001t0002g0005a0001c0001t0002g0041a0001c0001t0002g0042others(76): Show | 93 | 332 | 0.2801 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-2654G>C | ||||||
|
chr12:9083143
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(90): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0015others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(9): Show | a0001c0001t0002g0005a0001c0001t0002g0041a0001c0001t0002g0042others(76): Show | 93 | 332 | 0.2801 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-2966C>T | ||||||
|
chr12:9083754
|
GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0015others(5): Show | a0001c0001t0002a0001c0005t0002a0001c0015t0002others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(69): Show | 86 | 332 | 0.2590 | -1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-3578delT | ||||||
|
chr12:9083994
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(140): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(117): Show | 143 | 332 | 0.4307 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-3817A>C | ||||||
|
chr12:9084506
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(14): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-4329G>A | ||||||
|
chr12:9085293
|
G | A | intron_variant | MODIFIER | HG01106.hp1 HG01169.hp1 HG01261.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0017a0002c0002t0002g0110a0002c0002t0002g0112others(6): Show | 10 | 332 | 0.0301 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+3907C>T | ||||||
|
chr12:9085616
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(90): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0015others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(9): Show | a0001c0001t0002g0005a0001c0001t0002g0041a0001c0001t0002g0042others(76): Show | 93 | 332 | 0.2801 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+3584C>G | ||||||
|
chr12:9085714
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+3486A>G | ||||||
|
chr12:9085715
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(84): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0015others(6): Show | a0001c0001t0002a0001c0005t0002a0001c0015t0002others(7): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(70): Show | 87 | 332 | 0.2621 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+3485C>T | ||||||
|
chr12:9085983
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+3217T>C | ||||||
|
chr12:9086306
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+2894A>G | ||||||
|
chr12:9086426
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+2774C>A | ||||||
|
chr12:9086638
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+2562G>A | ||||||
|
chr12:9087138
|
GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | -1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+2061delT | ||||||
|
chr12:9087242
|
A | ATGTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | 4 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+1954_2770+1957dupGACA | ||||||
|
chr12:9088255
|
G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(59): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0002c0010others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0010t0002others(1): Show | a0001c0001t0002g0104a0001c0001t0002g0106a0002c0002t0002g0004others(48): Show | 62 | 332 | 0.1868 | 1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+944dupA | ||||||
|
chr12:9090328
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(62): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0002c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0215a0001c0001t0002g0104a0001c0001t0002g0106others(51): Show | 65 | 332 | 0.1958 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 20/35 | c.2596+28C>G | ||||||
|
chr12:9091671
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(120): Show | 146 | 332 | 0.4398 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 18/35 | c.2241-242G>A | ||||||
|
chr12:9092605
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(120): Show | 146 | 332 | 0.4398 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 18/35 | c.2240+860G>C | ||||||
|
chr12:9094340
|
CATAT | C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(16): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0030a0001c0001t0001g0145others(14): Show | 19 | 332 | 0.0572 | -4 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | c.2125+629_2125+632delATAT | ||||||
|
chr12:9095742
|
C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(76): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0024a0001c0001t0001g0146a0001c0001t0001g0147others(63): Show | 79 | 332 | 0.2380 | 1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1852-43dupA | ||||||
|
chr12:9096007
|
C | T | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0112 | 1 | 332 | 0.0030 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1852-307G>A | ||||||
|
chr12:9097157
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+1450A>G | ||||||
|
chr12:9097279
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(93): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0215a0001c0001t0002g0005a0001c0001t0002g0041others(79): Show | 96 | 332 | 0.2892 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+1328G>A | ||||||
|
chr12:9097863
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(120): Show | 146 | 332 | 0.4398 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+744A>G | ||||||
|
chr12:9097871
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(120): Show | 146 | 332 | 0.4398 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+736A>C | ||||||
|
chr12:9098449
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(195): Show | 241 | 332 | 0.7259 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+158A>T | ||||||
|
chr12:9099228
|
GCTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(69): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0005t0002a0002c0002t0002others(3): Show | a0001c0001t0002g0104a0001c0001t0002g0106a0001c0001t0002g0141others(57): Show | 72 | 332 | 0.2169 | -3 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 14/35 | c.1701+150_1701+152delAAG | ||||||
|
chr12:9100720
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(272): Show | 329 | 332 | 0.9910 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 13/35 | c.1558+424C>T | ||||||
|
chr12:9101298
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(248): Show | 302 | 332 | 0.9096 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 12/35 | c.1495-91G>A | ||||||
|
chr12:9102187
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(69): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(4): Show | a0001c0001t0001g0215a0001c0001t0002g0104a0001c0001t0002g0106others(57): Show | 72 | 332 | 0.2169 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/35 | c.1267-513G>C | ||||||
|
chr12:9102438
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(120): Show | 146 | 332 | 0.4398 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/35 | c.1267-764A>T | ||||||
|
chr12:9103235
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(91): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0005a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0215a0001c0001t0002g0005a0001c0001t0002g0041others(77): Show | 94 | 332 | 0.2831 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/35 | c.1266+1004C>A | ||||||
|
chr12:9103659
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(120): Show | 146 | 332 | 0.4398 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/35 | c.1266+580G>A | ||||||
|
chr12:9103758
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(141): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(118): Show | 144 | 332 | 0.4337 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/35 | c.1266+481C>T | ||||||
|
chr12:9104112
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/35 | c.1266+127G>A | ||||||
|
chr12:9104529
|
G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(141): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(118): Show | 144 | 332 | 0.4337 | 1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 10/35 | c.1105-130dupT | ||||||
|
chr12:9106735
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(119): Show | 145 | 332 | 0.4368 | 1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 8/35 | c.880-131dupT | ||||||
|
chr12:9107311
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 8/35 | c.879+213A>G | ||||||
|
chr12:9107684
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | c.759-40A>G | ||||||
|
chr12:9108099
|
GTTTATTT others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(130): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(109): Show | 133 | 332 | 0.4006 | -15 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | c.759-470_759-456delATAAAATAAAATAAA | ||||||
|
chr12:9108649
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(141): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(118): Show | 144 | 332 | 0.4337 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | c.758+672T>C | ||||||
|
chr12:9108775
|
C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | c.758+545_758+546insT | ||||||
|
chr12:9109034
|
T | TTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(139): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(10): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(116): Show | 142 | 332 | 0.4277 | 2 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | c.758+285_758+286dupCA | ||||||
|
chr12:9109693
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(53): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0104a0001c0001t0002g0106a0002c0002t0002g0004others(42): Show | 56 | 332 | 0.1687 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 6/35 | c.673+174C>A | ||||||
|
chr12:9110131
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(141): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(118): Show | 144 | 332 | 0.4337 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 5/35 | c.505-96A>C | ||||||
|
chr12:9110635
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(18): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(205): Show | 255 | 332 | 0.7681 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 4/35 | c.484-301T>C | ||||||
|
chr12:9111051
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(68): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0005t0002a0002c0002t0002others(3): Show | a0001c0001t0002g0104a0001c0001t0002g0106a0001c0001t0002g0141others(56): Show | 71 | 332 | 0.2139 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 4/35 | c.484-717G>A | ||||||
|
chr12:9112350
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(68): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0005t0002a0002c0002t0002others(3): Show | a0001c0001t0002g0104a0001c0001t0002g0106a0001c0001t0002g0141others(56): Show | 71 | 332 | 0.2139 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 3/35 | c.430+27A>C | ||||||
|
chr12:9113105
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(141): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(118): Show | 144 | 332 | 0.4337 | -1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 2/35 | c.270+254delA | ||||||
|
chr12:9113681
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(140): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(117): Show | 143 | 332 | 0.4307 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 1/35 | c.87-138G>A | ||||||
|
chr12:9114734
|
AATAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | -4 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 1/35 | c.86+1026_86+1029delGTAT | ||||||
|
chr12:9114963
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 1/35 | c.86+801G>A | ||||||
|
chr12:9115112
|
CATT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(78): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0005t0002a0002c0002t0002others(3): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(64): Show | 81 | 332 | 0.2440 | -3 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 1/35 | c.86+649_86+651delAAT |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | a0002 | 1474 | 63 | 16 | 22 | 14 | 2 | 9 | subcellular location copy fasta | chr12 | 9062708 | 9120919 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | c0002 | 4425 | 61 | 15 | 21 | 14 | 2 | 9 | copy fasta | chr12 | 9062708 | 9120919 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | t0002 | 186 | 144 | 61 | 32 | 27 | 4 | 20 | copy fasta | chr12 | 9062708 | 9120919 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | g0112 | 1 | 1 | 0 | 0 | 0 | 0 | chr12 | 9062708 | 9120919 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | a0002c0002 | 61 | 15 | 21 | 14 | 2 | 9 | 4425 | copy fasta | chr12 | 9062708 | 9120919 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | a0002c0002t0002 | 59 | 15 | 21 | 12 | 2 | 9 | 4610 | copy fasta | chr12 | 9062708 | 9120919 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | a0002c0002t0002g0112 | 1 | 1 | 0 | 0 | 0 | 0 | chr12 | 9062708 | 9120919 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 9115764 | - | 1 | -0.0697 | -0.0697 | -0.0697 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9113360 | - | 2 | -0.9886 | -0.9886 | -0.9886 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9113543 | - | 2 | 0.9915 | 0.9915 | 0.9915 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9112377 | - | 3 | -0.9706 | -0.9706 | -0.9706 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9112536 | - | 3 | 0.9530 | 0.9530 | 0.9530 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9112159 | - | 4 | -0.9775 | -0.9775 | -0.9775 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9112211 | - | 4 | 0.9198 | 0.9198 | 0.9198 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9110314 | - | 5 | -0.9915 | -0.9915 | -0.9915 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9110334 | - | 5 | 0.9950 | 0.9950 | 0.9950 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9109867 | - | 6 | -0.9287 | -0.9287 | -0.9287 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9110035 | - | 6 | 0.1093 | 0.1093 | 0.1093 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9109321 | - | 7 | -0.9263 | -0.9263 | -0.9263 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9109405 | - | 7 | 0.9435 | 0.9435 | 0.9435 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9107524 | - | 8 | -0.9722 | -0.9722 | -0.9722 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9107644 | - | 8 | 0.9697 | 0.9697 | 0.9697 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9106491 | - | 9 | -0.9954 | -0.9954 | -0.9954 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9106605 | - | 9 | 0.9976 | 0.9976 | 0.9976 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9106236 | - | 10 | -0.9051 | -0.9051 | -0.9051 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9106345 | - | 10 | 0.9915 | 0.9915 | 0.9915 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9104239 | - | 11 | -0.9924 | -0.9924 | -0.9924 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9104400 | - | 11 | 0.9931 | 0.9931 | 0.9931 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9101447 | - | 12 | -0.9816 | -0.9816 | -0.9816 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9101674 | - | 12 | 0.9699 | 0.9699 | 0.9699 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9101144 | - | 13 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9101207 | - | 13 | 0.9977 | 0.9977 | 0.9977 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9099381 | - | 14 | -0.9936 | -0.9936 | -0.9936 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9099523 | - | 14 | 0.9932 | 0.9932 | 0.9932 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9098607 | - | 15 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9098756 | - | 15 | 0.9982 | 0.9982 | 0.9982 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9095539 | - | 16 | -0.9954 | -0.9954 | -0.9954 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9095700 | - | 16 | 0.9996 | 0.9996 | 0.9996 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9094973 | - | 17 | -0.9875 | -0.9875 | -0.9875 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9095084 | - | 17 | 0.9946 | 0.9946 | 0.9946 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9093465 | - | 18 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9093579 | - | 18 | 0.9888 | 0.9888 | 0.9888 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9091201 | - | 19 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9091429 | - | 19 | 0.9907 | 0.9907 | 0.9907 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9090356 | - | 20 | -0.9657 | -0.9657 | -0.9657 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9090482 | - | 20 | 0.9884 | 0.9884 | 0.9884 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9089902 | - | 21 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9090023 | - | 21 | 0.9968 | 0.9968 | 0.9968 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9089200 | - | 22 | -0.9684 | -0.9684 | -0.9684 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9089251 | - | 22 | 0.9617 | 0.9617 | 0.9617 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9080094 | - | 23 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9080177 | - | 23 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9079639 | - | 24 | -0.9965 | -0.9965 | -0.9965 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9079815 | - | 24 | 0.9958 | 0.9958 | 0.9958 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9079244 | - | 25 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9079331 | - | 25 | 0.9943 | 0.9943 | 0.9943 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9077701 | - | 26 | -0.8709 | -0.8709 | -0.8709 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9077857 | - | 26 | 0.9122 | 0.9122 | 0.9122 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9077346 | - | 27 | -0.9720 | -0.9720 | -0.9720 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9077420 | - | 27 | 0.9947 | 0.9947 | 0.9947 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9076756 | - | 28 | -0.9981 | -0.9981 | -0.9981 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9076936 | - | 28 | 0.9894 | 0.9894 | 0.9894 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9074560 | - | 29 | -0.9788 | -0.9788 | -0.9788 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9074783 | - | 29 | 0.9906 | 0.9906 | 0.9906 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9072653 | - | 30 | -0.9851 | -0.9851 | -0.9851 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9072871 | - | 30 | 0.9723 | 0.9723 | 0.9723 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9072359 | - | 31 | -0.9899 | -0.9899 | -0.9899 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9072486 | - | 31 | 0.9936 | 0.9936 | 0.9936 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9070488 | - | 32 | -0.9988 | -0.9988 | -0.9988 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9070578 | - | 32 | 0.9938 | 0.9938 | 0.9938 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9069745 | - | 33 | -0.9990 | -0.9990 | -0.9990 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9069813 | - | 33 | 0.9979 | 0.9979 | 0.9979 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9068740 | - | 34 | -0.9992 | -0.9991 | -0.9992 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9068842 | - | 34 | 0.9992 | 0.9992 | 0.9992 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9068183 | - | 35 | -0.9961 | -0.9961 | -0.9961 | 0.0000 | acceptor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9068224 | - | 35 | 0.9944 | 0.9944 | 0.9944 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9067839 | - | 36 | 0.8757 | 0.8757 | 0.8757 | 0.0000 | donor | a0002c0002t0002g0112 | HG01884.hp1 | HG01884.hp1 | A2M | chr12 | 9062708 | 9120919 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 9079672:splice 9079672:variant goto | c.2998A>Gp.Ile1000Val | 18171 | Benign | A2M:2 KLRG1:10219 |
SO:0001583 missense_variant |
MedGen:C3661900|. | - | 3 | 4 | 5 | 54 | a0002a0009a0015 | a0002c0002a0002c0010a0009c0012a0015c0020 | a0002c0002t0001a0002c0002t0002a0002c0010t0002a0009c0012t0002a0015c0020t0002 | a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0002g0004a0002c0002t0002g0006a0002c0002t0002g0007others(49): Show | HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00609.hp2 HG00642.hp2 others(60): Show |
MODERATE | chr12 | T | C | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:9086638
|
c.2770+2562G>A | Cortical thickness | a0001a0002a0009a0012a0013others(2): Show | a0001c0001a0001c0003a0001c0005a0001c0015a0001c0021others(8): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002a0001c0015t0002a0001c0021t0002others(9): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0046others(109): Show | HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp1 others(132): Show |
Vertex-wise multivariate genome-wide association s others(76): Show |
35,657 White British ancestry individuals/ | NR | A2M | rs226415-T | - | MODIFIER | chr12 | C | T |
|
chr12:9109693
|
c.673+174C>A | Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 levelsothers(39): Show | a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0104a0001c0001t0002g0106a0002c0002t0002g0004a0002c0002t0002g0006a0002c0002t0002g0007others(40): Show | HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00609.hp2 HG00642.hp2 others(51): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | A2M | rs10842898-T | - | MODIFIER | chr12 | G | T | |
|
chr12:9111051
|
c.484-717G>A | Alpha-2-macroglobulin levels0.136 | a0001a0002a0009a0013 | a0001c0001a0001c0005a0002c0002a0002c0010a0009c0012others(1): Show | a0001c0001t0002a0001c0005t0002a0002c0002t0002a0002c0010t0002a0009c0012t0002others(1): Show | a0001c0001t0002g0104a0001c0001t0002g0106a0001c0001t0002g0141a0001c0005t0002g0019a0001c0005t0002g0134others(54): Show | HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00609.hp2 HG00642.hp2 others(66): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | A2M | rs226384-T | - | MODIFIER | chr12 | C | T | |
|
chr12:9069690
|
c.4263+55G>A | Prostate-specific antigen levels0.022 | a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0207a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0002g0004a0002c0002t0002g0006others(41): Show | HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00609.hp2 HG00642.hp2 others(51): Show |
Genetically adjusted PSA levels for prostate cance others(12): Show |
85,824 European ancestry individuals, 3,509 Africa others(126): Show |
A2M | rs1805664-T | - | MODIFIER | chr12 | C | T | |
|
chr12:9081502
|
c.2771-1325C>T | Prostate-specific antigen levels0.0231 | a0001a0002a0009a0013a0015 | a0001c0001a0001c0005a0001c0015a0001c0022a0002c0002others(4): Show | a0001c0001t0002a0001c0005t0002a0001c0015t0002a0001c0022t0002a0002c0002t0001others(5): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089a0001c0001t0002g0090a0001c0001t0002g0091others(68): Show | HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00609.hp2 HG00642.hp2 others(82): Show |
Genome-wide association study of prostate-specific others(98): Show |
61,745 African ancestry individuals, 6,967 Asian a others(106): Show |
A2M | rs7968640-A | - | MODIFIER | chr12 | G | A | |
|
chr12:9065605
|
c.*2218C>A |
Low-density lipoprotein levels (MTAG)0.0 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0207a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0002g0004a0002c0002t0002g0006others(44): Show | HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00609.hp2 HG00642.hp2 others(55): Show |
Pleiotropic genetic architecture and novel loci fo others(28): Show |
361,194 European ancestry individuals/ | A2M-AS1, LINC00612 | rs10771307-T | - | MODIFIER | chr12 | G | T |