| geneid | 644974 |
|---|---|
| ensemblid | ENSG00000251287.9 |
| hgncid | 37258 |
| symbol | ALG1L2 |
| name | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 |
| refseq_nuc | NM_001136152.1 |
| refseq_prot | NP_001129624.1 |
| ensembl_nuc | ENST00000425059.1 |
| ensembl_prot | ENSP00000479850.1 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 130081831 |
| end | 130098390 |
| strand | + |
| ver | v1.2 |
| region | chr3:130081831-130098390 |
| region5000 | chr3:130076831-130103390 |
| regionname0 | ALG1L2_chr3_130081831_130098390 |
| regionname5000 | ALG1L2_chr3_130076831_130103390 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:130096091
|
GC | G | 0.1954 | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(48): Show |
a0002a0003a0005 | a0002c0002a0002c0004a0002c0007others(6): Show | a0002c0002t0001a0002c0004t0001a0002c0004t0002others(8): Show | a0002c0002t0001g0005a0002c0002t0001g0008a0002c0002t0001g0019others(33): Show | 51 | 261 | -1 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/8 | c.469delC | p.Leu157fs | 655/969 | 469/648 | 157/215 | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:130091285
|
G | A | 0.1494 | synonymous_variant | LOW | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 2/8 | c.45G>A | p.Pro15Pro | 231/969 | 45/648 | 15/215 | ||
|
chr3:130091315
|
C | T | 0.1494 | synonymous_variant | LOW | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 2/8 | c.75C>T | p.Asp25Asp | 261/969 | 75/648 | 25/215 | ||
|
chr3:130094458
|
G | A | 0.1801 | synonymous_variant | LOW | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0007others(5): Show | a0001c0006t0001a0001c0006t0002a0002c0002t0001others(7): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(31): Show | 47 | 261 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/8 | c.369G>A | p.Gln123Gln | 555/969 | 369/648 | 123/215 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:130082356
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(85): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0017a0001c0001t0001g0052a0001c0001t0001g0056others(47): Show | 88 | 261 | 0.3372 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+320T>C | ||||||
|
chr3:130082586
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+550C>T | ||||||
|
chr3:130083204
|
G | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+1168G>C | ||||||
|
chr3:130084522
|
C | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+2486C>A | ||||||
|
chr3:130084542
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+2506G>A | ||||||
|
chr3:130084594
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+2558C>T | ||||||
|
chr3:130084687
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+2651G>A | ||||||
|
chr3:130084924
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+2888G>A | ||||||
|
chr3:130084935
|
G | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(28): Show | 44 | 261 | 0.1686 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+2899G>T | ||||||
|
chr3:130084948
|
T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(35): Show |
a0001a0002a0003 | a0001c0006a0001c0008a0002c0002others(3): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(5): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(22): Show | 38 | 261 | 0.1456 | 12 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+2928_20+2939dupATTTATTTATTT | INFO_REALIGN_3_PRIME | |||||
|
chr3:130084976
|
T | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+2940T>A | ||||||
|
chr3:130085013
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+2977C>T | ||||||
|
chr3:130085044
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0008others(6): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0002others(9): Show | a0001c0001t0001g0148a0001c0006t0001g0075a0001c0006t0002g0018others(33): Show | 49 | 261 | 0.1877 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+3008C>T | ||||||
|
chr3:130085211
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+3175C>T | ||||||
|
chr3:130085312
|
G | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+3276G>T | ||||||
|
chr3:130085470
|
C | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+3434C>A | ||||||
|
chr3:130085739
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+3703C>T | ||||||
|
chr3:130086042
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(35): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(22): Show | 38 | 261 | 0.1456 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+4006C>T | ||||||
|
chr3:130086131
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+4095C>T | ||||||
|
chr3:130086217
|
C | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+4181C>A | ||||||
|
chr3:130086234
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+4198C>T | ||||||
|
chr3:130086393
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.20+4357A>G | ||||||
|
chr3:130086682
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(31): Show | 47 | 261 | 0.1801 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-4579G>A | ||||||
|
chr3:130086686
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-4575G>A | ||||||
|
chr3:130086761
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-4500G>A | ||||||
|
chr3:130086959
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-4302C>T | ||||||
|
chr3:130086984
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(252): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(156): Show | 255 | 261 | 0.9770 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-4277A>G | ||||||
|
chr3:130087039
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-4222T>C | ||||||
|
chr3:130087078
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-4183C>T | ||||||
|
chr3:130087139
|
T | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-4122T>G | ||||||
|
chr3:130087414
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-3847C>T | ||||||
|
chr3:130087782
|
A | AGT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 2 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-3477_21-3476dupTG | INFO_REALIGN_3_PRIME | |||||
|
chr3:130088184
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-3077T>C | ||||||
|
chr3:130088360
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-2901C>T | ||||||
|
chr3:130088745
|
TC | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | -1 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-2512delC | INFO_REALIGN_3_PRIME | |||||
|
chr3:130089033
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(254): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(157): Show | 257 | 261 | 0.9847 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-2228A>G | ||||||
|
chr3:130089071
|
GTGGGTGA others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | -10 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-2189_21-2180delTGGGTGACTC | ||||||
|
chr3:130089087
|
A | AC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 1 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-2170dupC | INFO_REALIGN_3_PRIME | |||||
|
chr3:130089447
|
C | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(119): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0017a0001c0001t0001g0052a0001c0001t0001g0056others(75): Show | 122 | 261 | 0.4674 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-1814C>G | ||||||
|
chr3:130089912
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-1349C>T | ||||||
|
chr3:130090026
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-1235A>G | ||||||
|
chr3:130090288
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(5): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(31): Show | 47 | 261 | 0.1801 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-973A>G | ||||||
|
chr3:130090760
|
ACT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | -2 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-497_21-496delTC | INFO_REALIGN_3_PRIME | |||||
|
chr3:130090882
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(255): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(158): Show | 258 | 261 | 0.9885 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-379C>T | ||||||
|
chr3:130091056
|
T | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-205T>A | ||||||
|
chr3:130091179
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(94): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0017a0001c0001t0001g0052a0001c0001t0001g0056others(56): Show | 97 | 261 | 0.3717 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | c.21-82A>G | ||||||
|
chr3:130091503
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 2/7 | c.131+132T>C | ||||||
|
chr3:130091956
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 2/7 | c.132-145A>G | ||||||
|
chr3:130091957
|
T | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(4): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(23): Show | 39 | 261 | 0.1494 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 2/7 | c.132-144T>A | ||||||
|
chr3:130092230
|
T | C | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(6): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0001others(9): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(33): Show | 49 | 261 | 0.1877 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 3/7 | c.253+8T>C | ||||||
|
chr3:130093029
|
GAAAAA | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(34): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0002others(3): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(21): Show | 37 | 261 | 0.1418 | -5 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 3/7 | c.254-51_254-47delAAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr3:130093434
|
C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(94): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(11): Show | a0001c0001t0001g0017a0001c0001t0001g0052a0001c0001t0001g0056others(56): Show | 97 | 261 | 0.3717 | 1 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 4/7 | c.313+288dupT | INFO_REALIGN_3_PRIME | |||||
|
chr3:130094219
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0008a0002c0002others(6): Show | a0001c0006t0001a0001c0006t0002a0001c0008t0002others(8): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 4/7 | c.314-184T>C | ||||||
|
chr3:130094518
|
G | C | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0007others(5): Show | a0001c0006t0001a0001c0006t0002a0002c0002t0001others(7): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(31): Show | 47 | 261 | 0.1801 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | c.424+5G>C | ||||||
|
chr3:130095408
|
G | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0007others(5): Show | a0001c0006t0001a0001c0006t0002a0002c0002t0001others(7): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(31): Show | 47 | 261 | 0.1801 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | c.425-641G>C | ||||||
|
chr3:130095659
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(34): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0007others(1): Show | a0001c0006t0001a0001c0006t0002a0002c0002t0001others(2): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(21): Show | 37 | 261 | 0.1418 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | c.425-390C>T | ||||||
|
chr3:130095661
|
T | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0004others(7): Show | a0001c0006t0001a0001c0006t0002a0002c0002t0001others(9): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(33): Show | 49 | 261 | 0.1877 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | c.425-388T>G | ||||||
|
chr3:130095685
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(38): Show |
a0001a0002a0005 | a0001c0006a0002c0002a0002c0004others(4): Show | a0001c0006t0001a0001c0006t0002a0002c0002t0001others(6): Show | a0001c0006t0001g0075a0001c0006t0002g0018a0001c0006t0002g0074others(25): Show | 41 | 261 | 0.1571 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | c.425-364G>A | ||||||
|
chr3:130095771
|
C | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0004others(7): Show | a0001c0006t0002a0002c0002t0001a0002c0004t0001others(8): Show | a0001c0006t0002g0018a0001c0006t0002g0074a0002c0002t0001g0005others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | c.425-278C>A | ||||||
|
chr3:130095845
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0004others(7): Show | a0001c0006t0002a0002c0002t0001a0002c0004t0001others(8): Show | a0001c0006t0002g0018a0001c0006t0002g0074a0002c0002t0001g0005others(32): Show | 48 | 261 | 0.1839 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | c.425-204G>A | ||||||
|
chr3:130095963
|
CG | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(33): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0007others(1): Show | a0001c0006t0002a0002c0002t0001a0002c0007t0001others(1): Show | a0001c0006t0002g0018a0001c0006t0002g0074a0002c0002t0001g0005others(20): Show | 36 | 261 | 0.1379 | -1 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | c.425-80delG | INFO_REALIGN_3_PRIME | |||||
|
chr3:130096004
|
CG | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0004others(7): Show | a0001c0006t0002a0002c0002t0001a0002c0004t0001others(9): Show | a0001c0006t0002g0018a0001c0006t0002g0074a0002c0002t0001g0005others(32): Show | 49 | 261 | 0.1877 | -1 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | c.425-41delG | INFO_REALIGN_3_PRIME | |||||
|
chr3:130096019
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0002others(5): Show | a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0001g0061others(40): Show | 80 | 261 | 0.3065 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | c.425-30C>T | ||||||
|
chr3:130096026
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(47): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0004others(7): Show | a0001c0006t0002a0002c0002t0001a0002c0004t0001others(9): Show | a0001c0006t0002g0018a0001c0006t0002g0074a0002c0002t0001g0005others(33): Show | 50 | 261 | 0.1916 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | c.425-23G>A | ||||||
|
chr3:130096308
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(9): Show | a0001c0001t0001a0001c0006t0002a0002c0002t0001others(11): Show | a0001c0001t0001g0096a0001c0001t0001g0099a0001c0001t0001g0123others(39): Show | 58 | 261 | 0.2222 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/7 | c.539+145C>T | ||||||
|
chr3:130096369
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(54): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(9): Show | a0001c0001t0001a0001c0006t0002a0002c0002t0001others(11): Show | a0001c0001t0001g0096a0001c0001t0001g0099a0001c0001t0001g0134others(38): Show | 57 | 261 | 0.2184 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/7 | c.539+206C>T | ||||||
|
chr3:130096443
|
GA | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(10): Show | a0001c0001t0001g0096a0001c0001t0001g0099a0001c0003t0001g0010others(40): Show | 62 | 261 | 0.2376 | -1 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/7 | c.539+291delA | INFO_REALIGN_3_PRIME | |||||
|
chr3:130096475
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(13): Show | a0001c0001t0001g0021a0001c0001t0001g0044a0001c0001t0001g0060others(61): Show | 85 | 261 | 0.3257 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/7 | c.539+312T>C | ||||||
|
chr3:130096543
|
G | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0013a0001c0001t0001g0096a0001c0001t0001g0099others(42): Show | 62 | 261 | 0.2376 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/7 | c.539+380G>C | ||||||
|
chr3:130096706
|
C | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(249): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(153): Show | 252 | 261 | 0.9655 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/7 | c.540-469C>A | ||||||
|
chr3:130096756
|
T | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00639.hp2 others(57): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0087a0001c0001t0001g0099others(31): Show | 60 | 261 | 0.2299 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/7 | c.540-419T>C | ||||||
|
chr3:130097087
|
C | A | intron_variant | MODIFIER | HG00639.hp1 HG01358.hp1 HG02559.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0099a0001c0001t0001g0115others(10): Show | 15 | 261 | 0.0575 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/7 | c.540-88C>A | ||||||
|
chr3:130097525
|
A | T | intron_variant | MODIFIER | HG00639.hp1 HG01358.hp1 HG02559.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0099a0001c0001t0001g0115others(10): Show | 15 | 261 | 0.0575 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 7/7 | c.615+275A>T | ||||||
|
chr3:130098118
|
C | T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00639.hp1 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0013a0001c0001t0001g0099a0001c0001t0001g0115others(33): Show | 63 | 261 | 0.2414 | 0 | ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 7/7 | c.616-105C>T |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALG1L2 | 0/0 | a0002 | 160 | 42 | 18 | 11 | 1 | 6 | 6 | subcellular location copy fasta | chr3 | 130076831 | 130103390 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALG1L2 | 0/0 | c0002 | 647 | 30 | 11 | 9 | 0 | 4 | 6 | copy fasta | chr3 | 130076831 | 130103390 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALG1L2 | 1/0 | t0001 | 322 | 210 | 54 | 26 | 107 | 8 | 14 | copy fasta | chr3 | 130076831 | 130103390 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ALG1L2 | 0/0 | g0071 | 1 | 1 | 0 | 0 | 0 | 0 | chr3 | 130076831 | 130103390 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALG1L2 | 0/0 | a0002c0002 | 30 | 11 | 9 | 0 | 4 | 6 | 647 | copy fasta | chr3 | 130076831 | 130103390 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALG1L2 | 0/0 | a0002c0002t0001 | 30 | 11 | 9 | 0 | 4 | 6 | 968 | copy fasta | chr3 | 130076831 | 130103390 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ALG1L2 | 0/0 | a0002c0002t0001g0071 | 1 | 1 | 0 | 0 | 0 | 0 | chr3 | 130076831 | 130103390 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130091261 | + | 2 | 0.9954 | 0.9954 | 0.9954 | 0.0000 | donor | a0002c0002t0001g0071 | HG03225.hp2 | HG03225.hp2 | ALG1L2 | chr3 | 130076831 | 130103390 |
| 130091371 | + | 2 | -0.9975 | -0.9975 | -0.9975 | 0.0000 | acceptor | a0002c0002t0001g0071 | HG03225.hp2 | HG03225.hp2 | ALG1L2 | chr3 | 130076831 | 130103390 |
| 130092101 | + | 3 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0002c0002t0001g0071 | HG03225.hp2 | HG03225.hp2 | ALG1L2 | chr3 | 130076831 | 130103390 |
| 130092222 | + | 3 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0002c0002t0001g0071 | HG03225.hp2 | HG03225.hp2 | ALG1L2 | chr3 | 130076831 | 130103390 |
| 130093101 | + | 4 | 0.9909 | 0.9909 | 0.9909 | 0.0000 | donor | a0002c0002t0001g0071 | HG03225.hp2 | HG03225.hp2 | ALG1L2 | chr3 | 130076831 | 130103390 |
| 130093160 | + | 4 | -0.9918 | -0.9918 | -0.9918 | 0.0000 | acceptor | a0002c0002t0001g0071 | HG03225.hp2 | HG03225.hp2 | ALG1L2 | chr3 | 130076831 | 130103390 |
| 130094403 | + | 5 | 0.5288 | 0.5288 | 0.5288 | 0.0000 | donor | a0002c0002t0001g0071 | HG03225.hp2 | HG03225.hp2 | ALG1L2 | chr3 | 130076831 | 130103390 |
| 130094513 | + | 5 | -0.3408 | -0.3408 | -0.3408 | 0.0000 | acceptor | a0002c0002t0001g0071 | HG03225.hp2 | HG03225.hp2 | ALG1L2 | chr3 | 130076831 | 130103390 |
| 130096049 | + | 6 | 0.8102 | 0.8102 | 0.8102 | 0.0000 | donor | a0002c0002t0001g0071 | HG03225.hp2 | HG03225.hp2 | ALG1L2 | chr3 | 130076831 | 130103390 |
| 130096163 | + | 6 | -0.8146 | -0.8146 | -0.8146 | 0.0000 | acceptor | a0002c0002t0001g0071 | HG03225.hp2 | HG03225.hp2 | ALG1L2 | chr3 | 130076831 | 130103390 |
| 130097175 | + | 7 | 0.8632 | 0.8632 | 0.8632 | 0.0000 | donor | a0002c0002t0001g0071 | HG03225.hp2 | HG03225.hp2 | ALG1L2 | chr3 | 130076831 | 130103390 |
| 130097250 | + | 7 | -0.8805 | -0.8805 | -0.8805 | 0.0000 | acceptor | a0002c0002t0001g0071 | HG03225.hp2 | HG03225.hp2 | ALG1L2 | chr3 | 130076831 | 130103390 |
| 130098223 | + | 8 | 0.2424 | 0.2424 | 0.2424 | 0.0000 | donor | a0002c0002t0001g0071 | HG03225.hp2 | HG03225.hp2 | ALG1L2 | chr3 | 130076831 | 130103390 |
| 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 |
|---|
| 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 |
|---|
