| geneid | 28971 |
|---|---|
| ensemblid | ENSG00000087884.16 |
| hgncid | 30205 |
| symbol | AAMDC |
| name | adipogenesis associated Mth938 domain containing |
| refseq_nuc | NM_024684.4 |
| refseq_prot | NP_078960.1 |
| ensembl_nuc | ENST00000393427.7 |
| ensembl_prot | ENSP00000377078.2 |
| mane_status | MANE Select |
| chr | chr11 |
| start | 77821144 |
| end | 77872352 |
| strand | + |
| ver | v1.2 |
| region | chr11:77821144-77872352 |
| region5000 | chr11:77816144-77877352 |
| regionname0 | AAMDC_chr11_77821144_77872352 |
| regionname5000 | AAMDC_chr11_77816144_77877352 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:77842592
|
T | C | 0.4319 | synonymous_variant | LOW | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(162): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(158): Show | 165 | 382 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/4 | c.96T>C | p.Gly32Gly | 212/522 | 96/369 | 32/122 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:77821417
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(86): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(84): Show | 89 | 382 | 0.2330 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+176T>C | ||||||
|
chr11:77821662
|
G | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(86): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(84): Show | 89 | 382 | 0.2330 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+421G>C | ||||||
|
chr11:77822414
|
C | CAAA | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG02145.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0099a0001c0002t0001g0010a0001c0002t0001g0011others(10): Show | 13 | 382 | 0.0340 | 3 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+1192_-19+1194dupAAA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77822960
|
A | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020a0001c0002t0001g0021 | 2 | 382 | 0.0052 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+1719A>G | ||||||
|
chr11:77823214
|
CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(72): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0012a0001c0002t0001g0014a0001c0002t0001g0019others(70): Show | 75 | 382 | 0.1963 | -3 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+1991_-19+1993delAAA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77823309
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(86): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(84): Show | 89 | 382 | 0.2330 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+2068A>G | ||||||
|
chr11:77823398
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(297): Show | 308 | 382 | 0.8063 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+2157G>A | ||||||
|
chr11:77823614
|
CCTG | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(80): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0012a0001c0002t0001g0014a0001c0002t0001g0019others(78): Show | 83 | 382 | 0.2173 | -3 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+2374_-19+2376delCTG | ||||||
|
chr11:77823619
|
CT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(68): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0012a0001c0002t0001g0014a0001c0002t0001g0019others(66): Show | 71 | 382 | 0.1859 | -1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+2379delT | ||||||
|
chr11:77823621
|
C | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(80): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0012a0001c0002t0001g0014a0001c0002t0001g0019others(78): Show | 83 | 382 | 0.2173 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+2380C>A | ||||||
|
chr11:77825217
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(301): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(293): Show | 304 | 382 | 0.7958 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+3976T>C | ||||||
|
chr11:77825395
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(160): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(156): Show | 163 | 382 | 0.4267 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+4154T>C | ||||||
|
chr11:77827103
|
CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(161): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(157): Show | 164 | 382 | 0.4293 | -6 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+5871_-19+5876delAAAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77827904
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(288): Show | 297 | 382 | 0.7775 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+6663G>A | ||||||
|
chr11:77827912
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(163): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(159): Show | 166 | 382 | 0.4346 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+6671A>G | ||||||
|
chr11:77828670
|
GA | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0199a0001c0002t0001g0009a0001c0002t0001g0019others(7): Show | 10 | 382 | 0.0262 | -1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+7445delA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77829201
|
TTCACA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(162): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(158): Show | 165 | 382 | 0.4319 | -5 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+7962_-19+7966delCACAT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77829903
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(80): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0009a0001c0002t0001g0012a0001c0002t0001g0019others(78): Show | 83 | 382 | 0.2173 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+8662C>T | ||||||
|
chr11:77831254
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019a0001c0002t0001g0020a0001c0002t0001g0021 | 3 | 382 | 0.0079 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-19+10013T>C | ||||||
|
chr11:77831862
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(138): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0001t0001g0152others(134): Show | 141 | 382 | 0.3691 | -1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-10590delT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77832330
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(290): Show | 299 | 382 | 0.7827 | -1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-10136delT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77832951
|
ATGTGTG | A | intron_variant | MODIFIER | HG00544.hp2 HG01081.hp1 HG01433.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0104a0001c0001t0001g0133a0001c0001t0001g0149others(13): Show | 16 | 382 | 0.0419 | -6 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9486_-18-9481delGTGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77832959
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020a0001c0002t0001g0021 | 2 | 382 | 0.0052 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9520G>A | ||||||
|
chr11:77832993
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(250): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(244): Show | 253 | 382 | 0.6623 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9486G>A | ||||||
|
chr11:77832995
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(285): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(279): Show | 288 | 382 | 0.7539 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9484G>A | ||||||
|
chr11:77832997
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(288): Show | 297 | 382 | 0.7775 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9482G>A | ||||||
|
chr11:77833005
|
A | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0019a0001c0002t0001g0020a0001c0002t0001g0021others(2): Show | 5 | 382 | 0.0131 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9474A>T | ||||||
|
chr11:77833007
|
A | T | intron_variant | MODIFIER | HG01070.hp1 HG01243.hp2 HG01884.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0104a0001c0001t0001g0127a0001c0001t0001g0132others(37): Show | 40 | 382 | 0.1047 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9472A>T | ||||||
|
chr11:77833009
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(250): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0096others(245): Show | 253 | 382 | 0.6623 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-9470A>T | ||||||
|
chr11:77834441
|
GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(118): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0297a0001c0002t0001g0009a0001c0002t0001g0012others(115): Show | 121 | 382 | 0.3168 | -1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-8017delT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77834762
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(288): Show | 297 | 382 | 0.7775 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-7717A>T | ||||||
|
chr11:77834824
|
A | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(81): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0009a0001c0002t0001g0012a0001c0002t0001g0014others(79): Show | 84 | 382 | 0.2199 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-7655A>C | ||||||
|
chr11:77835472
|
C | CAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(163): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(159): Show | 166 | 382 | 0.4346 | 2 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-7005_-18-7004dupTA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77837489
|
CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(80): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0009a0001c0002t0001g0012a0001c0002t0001g0019others(78): Show | 83 | 382 | 0.2173 | -1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-4989delT | ||||||
|
chr11:77838615
|
C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(67): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0014a0001c0002t0001g0019a0001c0002t0001g0020others(65): Show | 70 | 382 | 0.1833 | 3 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-3847_-18-3845dupTTT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77839734
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(160): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(156): Show | 163 | 382 | 0.4267 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-2745G>C | ||||||
|
chr11:77840050
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(72): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0012a0001c0002t0001g0019a0001c0002t0001g0020others(70): Show | 75 | 382 | 0.1963 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-2429G>A | ||||||
|
chr11:77840097
|
AAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(292): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(286): Show | 295 | 382 | 0.7723 | -2 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | c.-18-2360_-18-2359delCA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77843528
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(368): Show | 381 | 382 | 0.9974 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+900G>A | ||||||
|
chr11:77843775
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(161): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(157): Show | 164 | 382 | 0.4293 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+1147G>A | ||||||
|
chr11:77844310
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(288): Show | 297 | 382 | 0.7775 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+1682A>G | ||||||
|
chr11:77847172
|
ACT | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019a0001c0002t0001g0020a0001c0002t0001g0021 | 3 | 382 | 0.0079 | -2 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+4547_132+4548delCT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77849026
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(167): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0214a0001c0001t0001g0320a0001c0001t0001g0328others(163): Show | 170 | 382 | 0.4450 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+6398A>G | ||||||
|
chr11:77850785
|
TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(217): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(213): Show | 220 | 382 | 0.5759 | -6 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+8173_132+8178delCACACA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77850987
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(154): Show | 161 | 382 | 0.4215 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+8359G>A | ||||||
|
chr11:77851025
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012a0001c0002t0001g0019a0001c0002t0001g0020others(1): Show | 4 | 382 | 0.0105 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+8397G>A | ||||||
|
chr11:77852224
|
C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01496.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0099a0001c0001t0001g0107a0001c0001t0001g0108others(9): Show | 12 | 382 | 0.0314 | 4 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+9610_132+9613dupAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr11:77852242
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(155): Show | 162 | 382 | 0.4241 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+9614G>A | ||||||
|
chr11:77852298
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(152): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(148): Show | 155 | 382 | 0.4058 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+9670C>T | ||||||
|
chr11:77852741
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(297): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(291): Show | 300 | 382 | 0.7853 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+10113A>T | ||||||
|
chr11:77854017
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(368): Show | 381 | 382 | 0.9974 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+11389C>G | ||||||
|
chr11:77855008
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(72): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0012a0001c0002t0001g0019a0001c0002t0001g0020others(70): Show | 75 | 382 | 0.1963 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+12380A>G | ||||||
|
chr11:77855311
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(155): Show | 162 | 382 | 0.4241 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+12683A>T | ||||||
|
chr11:77855720
|
C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(322): Show | 334 | 382 | 0.8744 | 1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+13109dupT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77855803
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(161): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(157): Show | 164 | 382 | 0.4293 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.132+13175A>G | ||||||
|
chr11:77856635
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(161): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(157): Show | 164 | 382 | 0.4293 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-13087C>T | ||||||
|
chr11:77857753
|
T | C | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01884.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0009a0001c0002t0001g0012a0001c0002t0001g0019others(9): Show | 12 | 382 | 0.0314 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-11969T>C | ||||||
|
chr11:77858064
|
G | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(82): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(80): Show | 85 | 382 | 0.2225 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-11658G>T | ||||||
|
chr11:77858132
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012a0001c0002t0001g0019a0001c0002t0001g0020others(1): Show | 4 | 382 | 0.0105 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-11590C>T | ||||||
|
chr11:77858194
|
ATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(109): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(107): Show | 112 | 382 | 0.2932 | -2 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-11511_133-11510delTT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77858302
|
C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01496.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0151a0001c0002t0001g0019a0001c0002t0001g0021others(30): Show | 34 | 382 | 0.0890 | 3 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-11397_133-11395dupTTT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77858403
|
C | CGGCTCGA others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(82): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(80): Show | 85 | 382 | 0.2225 | 12 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-11308_133-11307insTGGCTCGAATGC | INFO_REALIGN_3_PRIME | |||||
|
chr11:77858738
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(162): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(158): Show | 165 | 382 | 0.4319 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-10984T>C | ||||||
|
chr11:77862161
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(189): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0097others(185): Show | 192 | 382 | 0.5026 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-7561G>A | ||||||
|
chr11:77863559
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(155): Show | 162 | 382 | 0.4241 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-6163C>T | ||||||
|
chr11:77863651
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(155): Show | 162 | 382 | 0.4241 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-6071T>A | ||||||
|
chr11:77864593
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(155): Show | 162 | 382 | 0.4241 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-5129C>T | ||||||
|
chr11:77864595
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(71): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0009a0001c0002t0001g0012a0001c0002t0001g0019others(69): Show | 74 | 382 | 0.1937 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-5127G>A | ||||||
|
chr11:77864931
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(288): Show | 297 | 382 | 0.7775 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-4791T>C | ||||||
|
chr11:77866450
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(288): Show | 297 | 382 | 0.7775 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-3272A>T | ||||||
|
chr11:77866818
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(160): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0012a0001c0002t0001g0019others(156): Show | 163 | 382 | 0.4267 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-2904C>A | ||||||
|
chr11:77867312
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(157): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0012a0001c0002t0001g0019others(153): Show | 160 | 382 | 0.4189 | -1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-2408delT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77868058
|
C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(75): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0012a0001c0002t0001g0019a0001c0002t0001g0020others(73): Show | 78 | 382 | 0.2042 | 2 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-1650_133-1649dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77868357
|
C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0106a0001c0001t0001g0155others(79): Show | 85 | 382 | 0.2225 | 1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-1347dupT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77869194
|
AT | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019a0001c0002t0001g0020a0001c0002t0001g0021 | 3 | 382 | 0.0079 | -1 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-524delT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77869312
|
C | CTT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(64): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0012a0001c0002t0001g0019a0001c0002t0001g0020others(62): Show | 67 | 382 | 0.1754 | 2 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-392_133-391dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77869502
|
ACGGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(157): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0012a0001c0002t0001g0019others(153): Show | 160 | 382 | 0.4189 | -4 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | c.133-214_133-211delGGTC | INFO_REALIGN_3_PRIME | |||||
|
chr11:77869949
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(157): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0012a0001c0002t0001g0019others(153): Show | 160 | 382 | 0.4189 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 3/3 | c.228+132G>A | ||||||
|
chr11:77870329
|
ATT | A | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG01884.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0009a0001c0002t0001g0020a0001c0002t0001g0021others(6): Show | 9 | 382 | 0.0236 | -2 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 3/3 | c.228+537_228+538delTT | INFO_REALIGN_3_PRIME | |||||
|
chr11:77870398
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(70): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0012a0001c0002t0001g0019a0001c0002t0001g0020others(68): Show | 73 | 382 | 0.1911 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 3/3 | c.228+581G>A | ||||||
|
chr11:77871697
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(157): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0012a0001c0002t0001g0019others(153): Show | 160 | 382 | 0.4189 | 0 | AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 3/3 | c.229-478C>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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 1/1 | a0001 | 122 | 312 | 73 | 53 | 135 | 15 | 34 | subcellular location copy fasta | chr11 | 77816144 | 77877352 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 0/0 | c0002 | 369 | 97 | 39 | 18 | 21 | 4 | 15 | copy fasta | chr11 | 77816144 | 77877352 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 1/1 | t0001 | 154 | 305 | 64 | 47 | 161 | 12 | 19 | copy fasta | chr11 | 77816144 | 77877352 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 0/0 | g0021 | 1 | 1 | 0 | 0 | 0 | 0 | chr11 | 77816144 | 77877352 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 0/0 | a0001c0002 | 97 | 39 | 18 | 21 | 4 | 15 | 369 | copy fasta | chr11 | 77816144 | 77877352 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 0/0 | a0001c0002t0001 | 20 | 17 | 3 | 0 | 0 | 0 | 522 | copy fasta | chr11 | 77816144 | 77877352 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMDC | 0/0 | a0001c0002t0001g0021 | 1 | 1 | 0 | 0 | 0 | 0 | chr11 | 77816144 | 77877352 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 77821241 | + | 1 | -0.4862 | -0.4862 | -0.4862 | 0.0000 | acceptor | a0001c0002t0001g0021 | HG01884.hp1 | HG01884.hp1 | AAMDC | chr11 | 77816144 | 77877352 |
| 77842479 | + | 2 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0001c0002t0001g0021 | HG01884.hp1 | HG01884.hp1 | AAMDC | chr11 | 77816144 | 77877352 |
| 77842628 | + | 2 | -0.9968 | -0.9968 | -0.9968 | 0.0000 | acceptor | a0001c0002t0001g0021 | HG01884.hp1 | HG01884.hp1 | AAMDC | chr11 | 77816144 | 77877352 |
| 77869722 | + | 3 | 0.9597 | 0.9597 | 0.9597 | 0.0000 | donor | a0001c0002t0001g0021 | HG01884.hp1 | HG01884.hp1 | AAMDC | chr11 | 77816144 | 77877352 |
| 77869817 | + | 3 | -0.9806 | -0.9806 | -0.9806 | 0.0000 | acceptor | a0001c0002t0001g0021 | HG01884.hp1 | HG01884.hp1 | AAMDC | chr11 | 77816144 | 77877352 |
| 77872175 | + | 4 | 0.8737 | 0.8737 | 0.8737 | 0.0000 | donor | a0001c0002t0001g0021 | HG01884.hp1 | HG01884.hp1 | AAMDC | chr11 | 77816144 | 77877352 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:77871697
|
c.229-478C>T | platelet count (mean, inv-norm transformed)others(10): Show | a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0009a0001c0002t0001g0012a0001c0002t0001g0019a0001c0002t0001g0020a0001c0002t0001g0021others(151): Show | HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 others(155): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,731 African American or Afro-Caribbean individ others(130): Show |
AAMDC | rs591283-C | + | MODIFIER | chr11 | C | T |
