| geneid | 9625 |
|---|---|
| ensemblid | ENSG00000181409.14 |
| hgncid | 21 |
| symbol | AATK |
| name | apoptosis associated tyrosine kinase |
| refseq_nuc | NM_001080395.3 |
| refseq_prot | NP_001073864.2 |
| ensembl_nuc | ENST00000326724.9 |
| ensembl_prot | ENSP00000324196.4 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 81117295 |
| end | 81166221 |
| strand | - |
| ver | v1.2 |
| region | chr17:81117295-81166221 |
| region5000 | chr17:81112295-81171221 |
| regionname0 | AATK_chr17_81117295_81166221 |
| regionname5000 | AATK_chr17_81112295_81171221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81121829
|
C | A | 0.5408 | missense_variant | MODERATE | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(196): Show |
a0002a0003a0006others(20): Show | a0002c0002a0002c0032a0002c0057others(44): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007others(53): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016others(185): Show | 199 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 11/14 | c.2107G>T | p.Gly703Cys | 2336/5461 | 2107/4125 | 703/1374 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81119129
|
CCAGGTGA others(15): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(66): Show |
a0001a0003a0004others(7): Show | a0001c0004a0001c0060a0001c0066others(12): Show | a0001c0004t0002a0001c0004t0006a0001c0060t0002others(15): Show | a0001c0004t0002g0012a0001c0004t0002g0039a0001c0004t0002g0040others(62): Show | 69 | 368 | 0.1875 | -22 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | c.4084+229_4084+250delACCCTCACCTGGCCCTCACCTG | ||||||
|
chr17:81119705
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01071.hp2 others(22): Show |
a0003a0005a0014others(1): Show | a0003c0003a0003c0027a0005c0006others(5): Show | a0003c0003t0002a0003c0027t0001a0005c0006t0003others(7): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0027t0001g0323others(20): Show | 25 | 368 | 0.0679 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 12/13 | c.3884-125C>G | ||||||
|
chr17:81124176
|
GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(152): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0040others(28): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(36): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(143): Show | 155 | 368 | 0.4212 | -1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 9/13 | c.962+550delA | ||||||
|
chr17:81124187
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(212): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0040others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(55): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(202): Show | 215 | 368 | 0.5842 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 9/13 | c.962+540T>C | ||||||
|
chr17:81124376
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(240): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0004a0001c0011others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(63): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(225): Show | 243 | 368 | 0.6603 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 9/13 | c.962+351G>A | ||||||
|
chr17:81125038
|
GGCAGGGT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(327): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(85): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(309): Show | 330 | 368 | 0.8967 | -9 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.756-33_756-25delTCACCCTGC | ||||||
|
chr17:81125126
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(173): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0040others(22): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(33): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(161): Show | 176 | 368 | 0.4783 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.756-112C>T | ||||||
|
chr17:81125614
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(324): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0004a0001c0011others(66): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(84): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(306): Show | 327 | 368 | 0.8886 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.756-600T>G | ||||||
|
chr17:81125788
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(56): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0060others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(52): Show | 59 | 368 | 0.1603 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.755+639A>G | ||||||
|
chr17:81126207
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(206): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0011others(33): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(45): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(192): Show | 209 | 368 | 0.5679 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.755+220T>C | ||||||
|
chr17:81126210
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(205): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0011others(33): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(45): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(191): Show | 208 | 368 | 0.5652 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.755+217A>G | ||||||
|
chr17:81127081
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(336): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(69): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(87): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(318): Show | 339 | 368 | 0.9212 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 6/13 | c.621+502T>C | ||||||
|
chr17:81127275
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(163): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0040others(20): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(30): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(154): Show | 166 | 368 | 0.4511 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 6/13 | c.621+308G>T | ||||||
|
chr17:81128393
|
TAGG | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(200): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0011others(37): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(47): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(189): Show | 203 | 368 | 0.5516 | -3 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 4/13 | c.414+74_414+76delCCT | ||||||
|
chr17:81130962
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(169): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0040others(21): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(32): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(157): Show | 172 | 368 | 0.4674 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 3/13 | c.334+99G>A | ||||||
|
chr17:81132034
|
T | C | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00738.hp1 others(33): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0011a0001c0066others(16): Show | a0001c0001t0001a0001c0011t0001a0001c0066t0001others(16): Show | a0001c0001t0001g0273a0001c0011t0001g0267a0001c0011t0001g0272others(31): Show | 36 | 368 | 0.0978 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.190-829A>G | ||||||
|
chr17:81132050
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(329): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(68): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(87): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(311): Show | 332 | 368 | 0.9022 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.190-845A>G | ||||||
|
chr17:81132205
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(329): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(68): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(87): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(311): Show | 332 | 368 | 0.9022 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.190-1000A>G | ||||||
|
chr17:81132351
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(336): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(69): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(88): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(318): Show | 339 | 368 | 0.9212 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.190-1146C>A | ||||||
|
chr17:81133862
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00639.hp2 others(56): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0011a0002c0002others(22): Show | a0001c0001t0001a0001c0011t0001a0002c0002t0001others(25): Show | a0001c0001t0001g0143a0001c0001t0001g0174a0001c0001t0001g0273others(51): Show | 59 | 368 | 0.1603 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.189+506T>C | ||||||
|
chr17:81134281
|
A | G | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00738.hp1 others(24): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0011a0002c0064others(10): Show | a0001c0001t0001a0001c0011t0001a0002c0064t0001others(11): Show | a0001c0001t0001g0273a0001c0011t0001g0267a0001c0011t0001g0272others(22): Show | 27 | 368 | 0.0734 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.189+87T>C | ||||||
|
chr17:81134341
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(328): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(68): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(86): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(310): Show | 331 | 368 | 0.8995 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.189+27T>C | ||||||
|
chr17:81134518
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00639.hp1 others(62): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0011a0002c0002others(22): Show | a0001c0001t0001a0001c0011t0001a0002c0002t0001others(26): Show | a0001c0001t0001g0143a0001c0001t0001g0174a0001c0001t0001g0273others(55): Show | 65 | 368 | 0.1766 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-17A>G | ||||||
|
chr17:81135098
|
C | T | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00738.hp1 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0064others(6): Show | a0001c0001t0001a0001c0011t0001a0002c0064t0001others(6): Show | a0001c0001t0001g0273a0001c0011t0001g0267a0001c0011t0001g0272others(17): Show | 22 | 368 | 0.0598 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-597G>A | ||||||
|
chr17:81136109
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(309): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(79): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(292): Show | 312 | 368 | 0.8478 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-1608A>G | ||||||
|
chr17:81137257
|
T | TAA | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(10): Show |
a0003a0006a0007others(2): Show | a0003c0003a0003c0007a0003c0020others(6): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(6): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(8): Show | 13 | 368 | 0.0353 | 2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-2758_56-2757dupTT | ||||||
|
chr17:81137920
|
G | GCACA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(311): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(78): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(293): Show | 314 | 368 | 0.8533 | 4 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3423_56-3420dupTGTG | ||||||
|
chr17:81138106
|
G | A | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(4): Show |
a0003a0007 | a0003c0003a0003c0007a0003c0020others(1): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(1): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(2): Show | 7 | 368 | 0.0190 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3605C>T | ||||||
|
chr17:81138127
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(314): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(80): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(296): Show | 317 | 368 | 0.8614 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3626T>C | ||||||
|
chr17:81138152
|
C | T | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(4): Show |
a0003a0007 | a0003c0003a0003c0007a0003c0020others(1): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(1): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(2): Show | 7 | 368 | 0.0190 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3651G>A | ||||||
|
chr17:81138201
|
A | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(225): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0004a0001c0011others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(68): Show | a0001c0001t0001g0005a0001c0001t0001g0076a0001c0001t0001g0103others(214): Show | 228 | 368 | 0.6196 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3700T>G | ||||||
|
chr17:81138455
|
G | GCACA | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(17): Show |
a0003a0006a0007others(6): Show | a0003c0003a0003c0007a0003c0020others(11): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(12): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(15): Show | 20 | 368 | 0.0544 | 4 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3958_56-3955dupTGTG | ||||||
|
chr17:81138545
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(290): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0004a0001c0011others(57): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(75): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(272): Show | 293 | 368 | 0.7962 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4044A>G | ||||||
|
chr17:81138696
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(313): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(79): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(295): Show | 316 | 368 | 0.8587 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4195T>G | ||||||
|
chr17:81138800
|
C | CCA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(65): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(86): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(325): Show | 349 | 368 | 0.9484 | 2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4301_56-4300dupTG | ||||||
|
chr17:81138828
|
GCA | G | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(3): Show |
a0003 | a0003c0003a0003c0007a0003c0020 | a0003c0003t0002a0003c0007t0001a0003c0020t0001 | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(1): Show | 6 | 368 | 0.0163 | -2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4329_56-4328delTG | ||||||
|
chr17:81138836
|
A | C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(3): Show |
a0003 | a0003c0003a0003c0007a0003c0020 | a0003c0003t0002a0003c0007t0001a0003c0020t0001 | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(1): Show | 6 | 368 | 0.0163 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4335T>G | ||||||
|
chr17:81139363
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(311): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(79): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(293): Show | 314 | 368 | 0.8533 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4862C>A | ||||||
|
chr17:81139522
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(314): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(80): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(296): Show | 317 | 368 | 0.8614 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-5021A>G | ||||||
|
chr17:81139641
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(85): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(324): Show | 348 | 368 | 0.9457 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-5140A>G | ||||||
|
chr17:81139880
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(313): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(79): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(295): Show | 316 | 368 | 0.8587 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-5379G>A | ||||||
|
chr17:81140244
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0004a0001c0011others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(88): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(330): Show | 355 | 368 | 0.9647 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-5743T>C | ||||||
|
chr17:81140644
|
G | A | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp1 HG01069.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0064others(5): Show | a0001c0001t0001a0001c0011t0001a0002c0064t0001others(5): Show | a0001c0001t0001g0273a0001c0001t0001g0305a0001c0011t0001g0267others(20): Show | 25 | 368 | 0.0679 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6143C>T | ||||||
|
chr17:81140667
|
CGTGGGGA others(34): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(6): Show |
a0003a0006a0007others(1): Show | a0003c0003a0003c0007a0003c0020others(3): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(3): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(4): Show | 9 | 368 | 0.0245 | -41 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6207_56-6167delCGCCCCACAGCTCAACGGCCCCACGGCCCCATGGTCCCCAC | ||||||
|
chr17:81140714
|
A | C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(5): Show |
a0003a0007 | a0003c0003a0003c0007a0003c0020others(2): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(2): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(3): Show | 8 | 368 | 0.0217 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6213T>G | ||||||
|
chr17:81140770
|
TGTGGGGC others(56): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(3): Show |
a0003 | a0003c0003a0003c0007a0003c0020 | a0003c0003t0002a0003c0007t0001a0003c0020t0001 | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(1): Show | 6 | 368 | 0.0163 | -63 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6332_56-6270delGGTCTCCCGGCCCCACGGCTCACAGCCCCACGGTCTCACGGCCCCACGGTCTCACCGCCCCAC | ||||||
|
chr17:81140854
|
G | GCCGTGGG others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(3): Show |
a0003 | a0003c0003a0003c0007a0003c0020 | a0003c0003t0002a0003c0007t0001a0003c0020t0001 | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(1): Show | 6 | 368 | 0.0163 | 9 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6354_56-6353insTCCCCACGG | ||||||
|
chr17:81140856
|
T | C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(4): Show |
a0003a0032 | a0003c0003a0003c0007a0003c0020others(1): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(1): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(2): Show | 7 | 368 | 0.0190 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6355A>G | ||||||
|
chr17:81140916
|
GCCGTGGG others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00738.hp1 others(30): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0011a0002c0064others(12): Show | a0001c0001t0001a0001c0011t0001a0002c0064t0001others(12): Show | a0001c0001t0001g0273a0001c0001t0001g0305a0001c0011t0001g0267others(28): Show | 33 | 368 | 0.0897 | -8 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6423_56-6416delTCCCACGG | ||||||
|
chr17:81141000
|
A | G | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(16): Show |
a0003a0006a0007others(7): Show | a0003c0003a0003c0007a0003c0020others(11): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(11): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(14): Show | 19 | 368 | 0.0516 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6499T>C | ||||||
|
chr17:81141138
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00639.hp2 others(100): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0011a0001c0066others(44): Show | a0001c0001t0001a0001c0011t0001a0001c0066t0001others(50): Show | a0001c0001t0001g0005a0001c0001t0001g0098a0001c0001t0001g0143others(93): Show | 103 | 368 | 0.2799 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6637T>C | ||||||
|
chr17:81141233
|
T | C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(10): Show |
a0003a0007a0014others(3): Show | a0003c0003a0003c0007a0003c0020others(6): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(6): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(8): Show | 13 | 368 | 0.0353 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6732A>G | ||||||
|
chr17:81141932
|
C | CTTCCT | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00738.hp1 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0002c0064others(8): Show | a0001c0001t0001a0001c0011t0001a0002c0064t0001others(9): Show | a0001c0001t0001g0273a0001c0001t0001g0305a0001c0011t0001g0267others(24): Show | 29 | 368 | 0.0788 | 5 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-7436_56-7432dupAGGAA | ||||||
|
chr17:81142199
|
T | TCCAC | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(5): Show |
a0003a0005a0007 | a0003c0003a0003c0007a0003c0020others(2): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(2): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(3): Show | 8 | 368 | 0.0217 | 4 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-7702_56-7699dupGTGG | ||||||
|
chr17:81142279
|
C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00733.hp1 others(35): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0032others(14): Show | a0001c0001t0016a0002c0002t0001a0002c0032t0001others(16): Show | a0001c0001t0016g0291a0002c0002t0001g0016a0002c0002t0001g0017others(30): Show | 38 | 368 | 0.1033 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-7779dupA | ||||||
|
chr17:81142303
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0004a0001c0011others(53): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(67): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(199): Show | 221 | 368 | 0.6005 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-7802A>G | ||||||
|
chr17:81142552
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00621.hp2 others(110): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0011a0002c0002others(39): Show | a0001c0001t0001a0001c0001t0016a0001c0011t0001others(47): Show | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0098others(100): Show | 113 | 368 | 0.3071 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-8051A>G | ||||||
|
chr17:81143119
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(213): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0011others(54): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(67): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(195): Show | 216 | 368 | 0.5870 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-8618G>A | ||||||
|
chr17:81143195
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(215): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0011others(55): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(69): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(197): Show | 218 | 368 | 0.5924 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-8694T>C | ||||||
|
chr17:81143211
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00639.hp2 others(84): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0011a0001c0066others(35): Show | a0001c0001t0001a0001c0011t0001a0001c0066t0001others(41): Show | a0001c0001t0001g0005a0001c0001t0001g0098a0001c0001t0001g0143others(77): Show | 87 | 368 | 0.2364 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-8710C>T | ||||||
|
chr17:81143292
|
G | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01978.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0009a0003c0003t0002g0047 | 3 | 368 | 0.0082 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-8791C>T | ||||||
|
chr17:81143470
|
TGTGTCCA others(64): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(136): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0040others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(36): Show | a0001c0001t0001g0030a0001c0001t0001g0076a0001c0001t0001g0103others(131): Show | 139 | 368 | 0.3777 | -71 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-9040_56-8970delGGGGGGTGGGGGCTGCATGGCTGGGGGAAGTGAGGCTGCGTGGACACGGGAGGCAGGGGCTGCGTGGACAC | ||||||
|
chr17:81144453
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(139): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(46): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(132): Show | 142 | 368 | 0.3859 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-9952G>A | ||||||
|
chr17:81144802
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(178): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0011others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(51): Show | a0001c0001t0001g0019a0001c0001t0001g0030a0001c0001t0001g0034others(167): Show | 181 | 368 | 0.4919 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-10301G>A | ||||||
|
chr17:81145270
|
G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(297): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0004a0001c0011others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(77): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(276): Show | 300 | 368 | 0.8152 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-10770dupT | ||||||
|
chr17:81145733
|
CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(254): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0004a0001c0011others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(57): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(238): Show | 257 | 368 | 0.6984 | -1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11233delT | ||||||
|
chr17:81146188
|
T | TA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(158): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(46): Show | a0001c0001t0001g0014a0001c0001t0001g0030a0001c0001t0001g0034others(152): Show | 161 | 368 | 0.4375 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11688dupT | ||||||
|
chr17:81146292
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(144): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0011others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(43): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(137): Show | 147 | 368 | 0.3995 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11791G>A | ||||||
|
chr17:81147100
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(89): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0060others(16): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(20): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(85): Show | 92 | 368 | 0.2500 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-12599G>A | ||||||
|
chr17:81147629
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0004a0001c0011others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(88): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(323): Show | 348 | 368 | 0.9457 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-13128T>C | ||||||
|
chr17:81148064
|
C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(121): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0011others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(36): Show | a0001c0001t0001g0034a0001c0001t0001g0076a0001c0001t0001g0098others(115): Show | 124 | 368 | 0.3370 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-13564dupT | ||||||
|
chr17:81148802
|
ACACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(142): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0040others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(41): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(135): Show | 145 | 368 | 0.3940 | -4 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-14305_56-14302delAGTG | ||||||
|
chr17:81149196
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(126): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0040others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(34): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(120): Show | 129 | 368 | 0.3505 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-14695C>A | ||||||
|
chr17:81149334
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(136): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0040others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(40): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(129): Show | 139 | 368 | 0.3777 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-14833G>A | ||||||
|
chr17:81149335
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(136): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0040others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(40): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(129): Show | 139 | 368 | 0.3777 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-14834G>A | ||||||
|
chr17:81150525
|
C | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01978.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0009a0003c0003t0002g0047 | 3 | 368 | 0.0082 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+15413G>A | ||||||
|
chr17:81150734
|
T | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(314): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(80): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(296): Show | 317 | 368 | 0.8614 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+15204A>T | ||||||
|
chr17:81150999
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0011others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(48): Show | a0001c0001t0001g0014a0001c0001t0001g0030a0001c0001t0001g0034others(160): Show | 171 | 368 | 0.4647 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+14939A>G | ||||||
|
chr17:81151277
|
GC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(364): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(72): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(93): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(342): Show | 367 | 368 | 0.9973 | -1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+14660delG | ||||||
|
chr17:81151295
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A | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(315): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(80): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(297): Show | 318 | 368 | 0.8641 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+14643T>G | ||||||
|
chr17:81151298
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G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(311): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(81): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(294): Show | 314 | 368 | 0.8533 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+14640C>G | ||||||
|
chr17:81151316
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C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(171): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0004a0001c0011others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(46): Show | a0001c0001t0001g0014a0001c0001t0001g0030a0001c0001t0001g0034others(163): Show | 174 | 368 | 0.4728 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+14622G>C | ||||||
|
chr17:81151365
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0004a0001c0011others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(46): Show | a0001c0001t0001g0014a0001c0001t0001g0030a0001c0001t0001g0034others(160): Show | 171 | 368 | 0.4647 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+14573A>C | ||||||
|
chr17:81151419
|
G | GA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(299): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0004a0001c0011others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(74): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(282): Show | 302 | 368 | 0.8207 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+14518dupT | ||||||
|
chr17:81151923
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(91): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0060others(17): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(21): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(87): Show | 94 | 368 | 0.2554 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+14015A>G | ||||||
|
chr17:81152489
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(91): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0040others(17): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(21): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(87): Show | 94 | 368 | 0.2554 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+13449G>A | ||||||
|
chr17:81152844
|
A | AT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(170): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0011others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(51): Show | a0001c0001t0001g0014a0001c0001t0001g0030a0001c0001t0001g0034others(163): Show | 173 | 368 | 0.4701 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+13093dupA | ||||||
|
chr17:81153278
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(92): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0040others(18): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(22): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(88): Show | 95 | 368 | 0.2582 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+12660C>A | ||||||
|
chr17:81153685
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(92): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0040others(18): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(22): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(88): Show | 95 | 368 | 0.2582 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+12253T>G | ||||||
|
chr17:81153878
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(92): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0040others(18): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(22): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(88): Show | 95 | 368 | 0.2582 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+12060G>C | ||||||
|
chr17:81153932
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(92): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0040others(18): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(22): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(88): Show | 95 | 368 | 0.2582 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+12006C>T | ||||||
|
chr17:81154078
|
AAAAAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(91): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0060others(17): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(21): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(87): Show | 94 | 368 | 0.2554 | -5 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+11855_55+11859delGTTTT | ||||||
|
chr17:81154319
|
CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(88): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0060others(17): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(21): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(84): Show | 91 | 368 | 0.2473 | -3 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+11616_55+11618delAAA | ||||||
|
chr17:81154477
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(92): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0040others(18): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(22): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(88): Show |