| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81120490
|
C | T | 0.0217 | missense_variant | MODERATE | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(5): Show |
a0009a0025a0027 | a0009c0019a0009c0025a0009c0065others(2): Show | a0009c0019t0004a0009c0025t0004a0009c0065t0004others(2): Show | a0009c0019t0004g0237a0009c0019t0004g0238a0009c0019t0004g0239others(5): Show | 8 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 11/14 | c.3446G>A | p.Gly1149Asp | 3675/5461 | 3446/4125 | 1149/1374 | ||
|
chr17:81121285
|
G | A | 0.0245 | missense_variant | MODERATE | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(6): Show |
a0009a0019a0020others(1): Show | a0009c0019a0009c0025a0009c0065others(3): Show | a0009c0019t0004a0009c0025t0004a0009c0065t0004others(3): Show | a0009c0019t0004g0237a0009c0019t0004g0238a0009c0019t0004g0239others(6): Show | 9 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 11/14 | c.2651C>T | p.Pro884Leu | 2880/5461 | 2651/4125 | 884/1374 | ||
|
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 | ||
|
chr17:81121907
|
G | A | 0.0190 | missense_variant | MODERATE | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(4): Show |
a0009a0020 | a0009c0019a0009c0025a0009c0065others(1): Show | a0009c0019t0004a0009c0025t0004a0009c0065t0004others(1): Show | a0009c0019t0004g0237a0009c0019t0004g0238a0009c0019t0004g0239others(4): Show | 7 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 11/14 | c.2029C>T | p.His677Tyr | 2258/5461 | 2029/4125 | 677/1374 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81121344
|
G | A | 0.7935 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0011a0001c0040others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(75): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(273): Show | 292 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 11/14 | c.2592C>T | p.Ala864Ala | 2821/5461 | 2592/4125 | 864/1374 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81117303
|
G | T | 0.7935 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0004a0001c0011others(59): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(74): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(273): Show | 292 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 14/14 | c.*1099C>A | 1099 | |||||
|
chr17:81117472
|
CAGTT | C | 0.0272 | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(7): Show |
a0009a0019a0020others(2): Show | a0009c0019a0009c0025a0009c0065others(4): Show | a0009c0019t0004a0009c0025t0004a0009c0065t0004others(4): Show | a0009c0019t0004g0237a0009c0019t0004g0238a0009c0019t0004g0239others(7): Show | 10 | 368 | -4 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 14/14 | c.*926_*929delAACT | 926 | |||||
|
chr17:81117553
|
T | C | 0.8016 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(59): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(77): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(276): Show | 295 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 14/14 | c.*849A>G | 849 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81119125
|
GGGGCCAG others(4): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(7): Show |
a0001a0009a0021others(2): Show | a0001c0004a0009c0019a0009c0025others(4): Show | a0001c0004t0001a0009c0019t0004a0009c0025t0004others(4): Show | a0001c0004t0001g0053a0009c0019t0004g0237a0009c0019t0004g0238others(7): Show | 10 | 368 | 0.0272 | -11 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | c.4084+244_4084+254delTCACCTGGCCC | ||||||
|
chr17:81119342
|
C | CCGCGTGC others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(60): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(76): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(274): Show | 293 | 368 | 0.7962 | 16 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | c.4084+37_4084+38insAGAGGTAGGGCACGCG | ||||||
|
chr17:81119675
|
CATGTCAC others(23): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(7): Show |
a0009a0019a0020others(2): Show | a0009c0019a0009c0025a0009c0065others(4): Show | a0009c0019t0004a0009c0025t0004a0009c0065t0004others(4): Show | a0009c0019t0004g0237a0009c0019t0004g0238a0009c0019t0004g0239others(7): Show | 10 | 368 | 0.0272 | -30 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 12/13 | c.3884-125_3884-96delCATGGGAGGCGGGGCCTGGGCCCGTGACAT | ||||||
|
chr17:81119754
|
G | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(7): Show |
a0009a0019a0020others(2): Show | a0009c0019a0009c0025a0009c0065others(4): Show | a0009c0019t0004a0009c0025t0004a0009c0065t0004others(4): Show | a0009c0019t0004g0237a0009c0019t0004g0238a0009c0019t0004g0239others(7): Show | 10 | 368 | 0.0272 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 12/13 | c.3884-174C>T | ||||||
|
chr17:81123504
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(220): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0004a0001c0011others(45): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(57): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(210): Show | 223 | 368 | 0.6060 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 9/13 | c.963-161C>A | ||||||
|
chr17:81124178
|
T | G | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00738.hp2 others(52): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0002c0002others(19): Show | a0001c0001t0001a0001c0004t0002a0001c0004t0006others(23): Show | a0001c0001t0001g0103a0001c0001t0001g0107a0001c0004t0002g0040others(51): Show | 55 | 368 | 0.1495 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 9/13 | c.962+549A>C | ||||||
|
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 | ||||||
|
chr17:81124244
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(89): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0002c0002others(35): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(40): Show | a0001c0001t0001g0030a0001c0001t0016g0291a0001c0004t0002g0083others(86): Show | 92 | 368 | 0.2500 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 9/13 | c.962+483A>G | ||||||
|
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 | ||||||
|
chr17:81125151
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(125): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0004a0001c0066others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(49): Show | a0001c0001t0001g0103a0001c0001t0001g0107a0001c0001t0002g0234others(121): Show | 128 | 368 | 0.3478 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.756-137G>A | ||||||
|
chr17:81125558
|
T | C | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00738.hp1 others(44): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0011a0001c0066others(20): Show | a0001c0001t0001a0001c0011t0001a0001c0066t0001others(21): Show | a0001c0001t0001g0273a0001c0011t0001g0198a0001c0011t0001g0249others(42): Show | 47 | 368 | 0.1277 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.756-544A>G | ||||||
|
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 | ||||||
|
chr17:81126202
|
T | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.755+225A>G | ||||||
|
chr17:81126414
|
C | T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.755+13G>A | ||||||
|
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 | ||||||
|
chr17:81127723
|
T | G | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00738.hp1 others(38): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0011a0001c0066others(19): Show | a0001c0001t0001a0001c0011t0001a0001c0066t0001others(19): Show | a0001c0001t0001g0273a0001c0011t0001g0198a0001c0011t0001g0249others(36): Show | 41 | 368 | 0.1114 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 5/13 | c.534-53A>C | ||||||
|
chr17:81128143
|
CCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(166): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0004a0001c0011others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(60): Show | a0001c0001t0001g0103a0001c0001t0001g0107a0001c0001t0001g0217others(157): Show | 169 | 368 | 0.4592 | -2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 4/13 | c.415-235_415-234delAG | ||||||
|
chr17:81129611
|
TAG | T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | -2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 3/13 | c.335-1064_335-1063delCT | ||||||
|
chr17:81130515
|
C | T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 3/13 | c.334+546G>A | ||||||
|
chr17:81130777
|
G | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 3/13 | c.334+284C>G | ||||||
|
chr17:81131703
|
G | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(21): Show |
a0001a0003a0004others(8): Show | a0001c0066a0003c0007a0003c0027others(14): Show | a0001c0066t0001a0003c0007t0001a0003c0007t0019others(15): Show | a0001c0066t0001g0188a0003c0007t0001g0280a0003c0007t0001g0318others(21): Show | 24 | 368 | 0.0652 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.190-498C>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 | ||||||
|
chr17:81134341
|
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 | ||||||
|
chr17:81135605
|
A | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(5): Show |
a0006a0007a0009others(2): Show | a0006c0042a0006c0056a0007c0008others(4): Show | a0006c0042t0011a0006c0056t0011a0007c0008t0001others(4): Show | a0006c0042t0011g0335a0006c0056t0011g0332a0007c0008t0001g0229others(5): Show | 8 | 368 | 0.0217 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-1104T>C | ||||||
|
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 | ||||||
|
chr17:81137771
|
T | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3270A>C | ||||||
|
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 | ||||||
|
chr17:81138127
|
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 | ||||||
|
chr17:81138170
|
CACTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(6): Show |
a0001a0006a0007others(3): Show | a0001c0004a0006c0042a0006c0056others(5): Show | a0001c0004t0002a0006c0042t0011a0006c0056t0011others(5): Show | a0001c0004t0002g0075a0006c0042t0011g0335a0006c0056t0011g0332others(6): Show | 9 | 368 | 0.0245 | -4 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3673_56-3670delAAGT | ||||||
|
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 | ||||||
|
chr17:81138410
|
C | T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(5): Show |
a0006a0007a0009others(2): Show | a0006c0042a0006c0056a0007c0008others(4): Show | a0006c0042t0011a0006c0056t0011a0007c0008t0001others(4): Show | a0006c0042t0011g0335a0006c0056t0011g0332a0007c0008t0001g0229others(5): Show | 8 | 368 | 0.0217 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3909G>A | ||||||
|
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 | ||||||
|
chr17:81138651
|
A | C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00733.hp2 others(44): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0011a0002c0002others(21): Show | a0001c0001t0001a0001c0011t0001a0002c0002t0001others(24): Show | a0001c0001t0001g0005a0001c0001t0001g0143a0001c0001t0001g0174others(40): Show | 47 | 368 | 0.1277 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4150T>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 | ||||||
|
chr17:81138716
|
C | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(5): Show |
a0006a0007a0009others(2): Show | a0006c0042a0006c0056a0007c0008others(4): Show | a0006c0042t0011a0006c0056t0011a0007c0008t0001others(4): Show | a0006c0042t0011g0335a0006c0056t0011g0332a0007c0008t0001g0229others(5): Show | 8 | 368 | 0.0217 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4215G>C | ||||||
|
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 | ||||||
|
chr17:81139122
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(307): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(59): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(78): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(291): Show | 310 | 368 | 0.8424 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4621A>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 | ||||||
|
chr17:81140520
|
T | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(4): Show |
a0006a0007a0009others(1): Show | a0006c0042a0006c0056a0007c0008others(3): Show | a0006c0042t0011a0006c0056t0011a0007c0008t0015others(3): Show | a0006c0042t0011g0335a0006c0056t0011g0332a0007c0008t0015g0201others(4): Show | 7 | 368 | 0.0190 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6019A>T | ||||||
|
chr17:81140667
|
C | T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6166G>A | ||||||
|
chr17:81140671
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01081.hp2 others(43): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0066a0002c0002others(19): Show | a0001c0001t0016a0001c0066t0001a0002c0002t0001others(21): Show | a0001c0001t0016g0291a0001c0066t0001g0188a0002c0002t0001g0016others(39): Show | 46 | 368 | 0.1250 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6170C>T | ||||||
|
chr17:81140672
|
GGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01081.hp2 others(43): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0066a0002c0002others(19): Show | a0001c0001t0016a0001c0066t0001a0002c0002t0001others(21): Show | a0001c0001t0016g0291a0001c0066t0001g0188a0002c0002t0001g0016others(39): Show | 46 | 368 | 0.1250 | -2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6173_56-6172delTC | ||||||
|
chr17:81140677
|
A | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6176T>C | ||||||
|
chr17:81140684
|
C | T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6183G>A | ||||||
|
chr17:81140691
|
C | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6190G>T | ||||||
|
chr17:81140693
|
G | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6192C>G | ||||||
|
chr17:81140694
|
T | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6193A>C | ||||||
|
chr17:81140702
|
TGGGGCGG others(150): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(1): Show |
a0006a0009 | a0006c0042a0006c0056a0009c0025 | a0006c0042t0011a0006c0056t0011a0009c0025t0004 | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(1): Show | 4 | 368 | 0.0109 | -157 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6358_56-6202del | ||||||
|
chr17:81140861
|
G | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(2): Show |
a0006a0007a0009 | a0006c0042a0006c0056a0007c0071others(1): Show | a0006c0042t0011a0006c0056t0011a0007c0071t0001others(1): Show | a0006c0042t0011g0335a0006c0056t0011g0332a0007c0071t0001g0204others(2): Show | 5 | 368 | 0.0136 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6360C>T | ||||||
|
chr17:81140927
|
G | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(3): Show |
a0006a0007a0009 | a0006c0012a0006c0042a0006c0056others(2): Show | a0006c0012t0010a0006c0042t0011a0006c0056t0011others(2): Show | a0006c0012t0010g0106a0006c0042t0011g0335a0006c0056t0011g0332others(3): Show | 6 | 368 | 0.0163 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6426C>T | ||||||
|
chr17:81140928
|
TGGGACCA others(17): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(2): Show |
a0006a0007a0009 | a0006c0042a0006c0056a0007c0071others(1): Show | a0006c0042t0011a0006c0056t0011a0007c0071t0001others(1): Show | a0006c0042t0011g0335a0006c0056t0011g0332a0007c0071t0001g0204others(2): Show | 5 | 368 | 0.0136 | -24 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6451_56-6428delCACGGCTCACGGCCCCATGGTCCC | ||||||
|
chr17:81140956
|
A | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(2): Show |
a0006a0007a0009 | a0006c0042a0006c0056a0007c0071others(1): Show | a0006c0042t0011a0006c0056t0011a0007c0071t0001others(1): Show | a0006c0042t0011g0335a0006c0056t0011g0332a0007c0071t0001g0204others(2): Show | 5 | 368 | 0.0136 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6455T>C | ||||||
|
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 | ||||||
|
chr17:81141011
|
C | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(2): Show |
a0006a0007a0009 | a0006c0042a0006c0056a0007c0071others(1): Show | a0006c0042t0011a0006c0056t0011a0007c0071t0001others(1): Show | a0006c0042t0011g0335a0006c0056t0011g0332a0007c0071t0001g0204others(2): Show | 5 | 368 | 0.0136 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6510G>T | ||||||
|
chr17:81141014
|
A | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(2): Show |
a0006a0007a0009 | a0006c0042a0006c0056a0007c0071others(1): Show | a0006c0042t0011a0006c0056t0011a0007c0071t0001others(1): Show | a0006c0042t0011g0335a0006c0056t0011g0332a0007c0071t0001g0204others(2): Show | 5 | 368 | 0.0136 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6513T>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 | ||||||
|
chr17:81141181
|
T | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(3): Show |
a0006a0007a0009others(1): Show | a0006c0042a0006c0056a0007c0071others(2): Show | a0006c0042t0011a0006c0056t0011a0007c0071t0001others(2): Show | a0006c0042t0011g0335a0006c0056t0011g0332a0007c0071t0001g0204others(3): Show | 6 | 368 | 0.0163 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6680A>G | ||||||
|
chr17:81141487
|
T | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(2): Show |
a0006a0009a0033 | a0006c0042a0006c0056a0009c0025others(1): Show | a0006c0042t0011a0006c0056t0011a0009c0025t0004others(1): Show | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(2): Show | 5 | 368 | 0.0136 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-6986A>G | ||||||
|
chr17:81141786
|
A | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(2): Show |
a0006a0009a0033 | a0006c0042a0006c0056a0009c0025others(1): Show | a0006c0042t0011a0006c0056t0011a0009c0025t0004others(1): Show | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(2): Show | 5 | 368 | 0.0136 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-7285T>C | ||||||
|
chr17:81141928
|
C | CTTCCTTC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00733.hp2 others(54): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0011a0001c0066others(28): Show | a0001c0001t0001a0001c0011t0001a0001c0066t0001others(31): Show | a0001c0001t0001g0005a0001c0001t0001g0098a0001c0001t0001g0143others(49): Show | 57 | 368 | 0.1549 | 9 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-7436_56-7428dupAGGAAGGAA | ||||||
|
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 | ||||||
|
chr17:81143470
|
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 | ||||||
|
chr17:81143840
|
G | A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG01167.hp2 others(30): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0004a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0002others(16): Show | a0001c0001t0001g0242a0001c0001t0001g0338a0001c0001t0001g0339others(30): Show | 33 | 368 | 0.0897 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-9339C>T | ||||||
|
chr17:81143970
|
C | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00621.hp2 others(77): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0011others(31): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(40): Show | a0001c0001t0001g0014a0001c0001t0001g0123a0001c0001t0001g0129others(73): Show | 80 | 368 | 0.2174 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-9469G>C | ||||||
|
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 | ||||||
|
chr17:81145234
|
C | CA | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01167.hp2 others(18): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0066others(12): Show | a0001c0001t0005a0001c0004t0002a0001c0066t0001others(12): Show | a0001c0001t0005g0025a0001c0001t0005g0026a0001c0001t0005g0028others(17): Show | 21 | 368 | 0.0571 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-10734dupT | ||||||
|
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 | ||||||
|
chr17:81145527
|
C | CT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(3): Show |
a0005a0006a0009others(1): Show | a0005c0021a0006c0042a0006c0056others(2): Show | a0005c0021t0001a0006c0042t0011a0006c0056t0011others(2): Show | a0005c0021t0001g0206a0006c0042t0011g0335a0006c0056t0011g0332others(3): Show | 6 | 368 | 0.0163 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11027dupA | ||||||
|
chr17:81145733
|
CAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01255.hp2 HG01884.hp1 others(5): Show |
a0003a0005a0006others(4): Show | a0003c0027a0005c0021a0006c0042others(5): Show | a0003c0027t0001a0005c0021t0001a0006c0042t0011others(5): Show | a0003c0027t0001g0281a0005c0021t0001g0206a0006c0042t0011g0335others(5): Show | 8 | 368 | 0.0217 | -3 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11235_56-11233delTTT | ||||||
|
chr17:81147030
|
C | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(2): Show |
a0006a0009a0019 | a0006c0042a0006c0056a0009c0025others(1): Show | a0006c0042t0011a0006c0056t0011a0009c0025t0004others(1): Show | a0006c0042t0011g0335a0006c0056t0011g0332a0009c0025t0004g0334others(2): Show | 5 | 368 | 0.0136 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-12529G>C | ||||||
|
chr17:81147360
|
C | CA | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01167.hp2 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0027others(6): Show | a0001c0001t0001a0002c0002t0001a0003c0027t0001others(6): Show | a0001c0001t0001g0157a0002c0002t0001g0016a0002c0002t0001g0117others(9): Show | 13 | 368 | 0.0353 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-12860dupT | ||||||
|
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 | CAA | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01167.hp2 others(20): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(11): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(11): Show | a0001c0001t0001g0093a0002c0002t0001g0033a0002c0002t0001g0042others(20): Show | 23 | 368 | 0.0625 | 2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-13565_56-13564dupTT | ||||||
|
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 | ||||||
|
chr17:81151277
|
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
|
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
|
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 | ||||||
|
chr17:81151307
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(135): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0004a0001c0011others(40): Show | a0001c0001t0001a0001c0001t0013a0001c0004t0002others(46): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(126): Show | 138 | 368 | 0.3750 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+14631A>G | ||||||
|
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 | ||||||
|
chr17:81151741
|
A | G | intron_variant | MODIFIER | HG00673.hp2 HG01071.hp1 HG01106.hp2 others(24): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0066others(9): Show | a0001c0001t0001a0001c0001t0013a0001c0004t0002others(11): Show | a0001c0001t0001g0208a0001c0001t0001g0210a0001c0001t0001g0212others(24): Show | 27 | 368 | 0.0734 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+14197T>C | ||||||
|
chr17:81153365
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(109): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0011others(32): Show | a0001c0001t0001a0001c0004t0002a0001c0011t0001others(35): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(99): Show | 112 | 368 | 0.3044 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+12573T>C | ||||||
|
chr17:81153740
|
C | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(3): Show |
a0001a0006a0009others(1): Show | a0001c0066a0006c0042a0006c0056others(2): Show | a0001c0066t0001a0006c0042t0011a0006c0056t0011others(2): Show | a0001c0066t0001g0188a0006c0042t0011g0335a0006c0056t0011g0332others(3): Show | 6 | 368 | 0.0163 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+12198G>T | ||||||
|
chr17:81154020
|
G | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(3): Show |
a0001a0006a0009others(1): Show | a0001c0066a0006c0042a0006c0056others(2): Show | a0001c0066t0001a0006c0042t0011a0006c0056t0011others(2): Show | a0001c0066t0001g0188a0006c0042t0011g0335a0006c0056t0011g0332others(3): Show | 6 | 368 | 0.0163 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+11918C>T | ||||||
|
chr17:81154315
|
CTTTCT | C | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp2 HG01169.hp1 others(4): Show |
a0001a0006a0009others(1): Show | a0001c0004a0006c0042a0006c0056others(2): Show | a0001c0004t0002a0006c0042t0011a0006c0056t0011others(2): Show | a0001c0004t0002g0012a0006c0042t0011g0335a0006c0056t0011g0332others(3): Show | 7 | 368 | 0.0190 | -5 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+11618_55+11622delAGAAA | ||||||
|
chr17:81154577
|
C | T | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp2 HG01169.hp1 others(5): Show |
a0001a0006a0009others(1): Show | a0001c0004a0001c0066a0006c0042others(3): Show | a0001c0004t0002a0001c0066t0001a0006c0042t0011others(3): Show | a0001c0004t0002g0012a0001c0066t0001g0188a0006c0042t0011g0335others(4): Show | 8 | 368 | 0.0217 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+11361G>A | ||||||
|
chr17:81155393
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(101): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0060others(25): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(29): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(96): Show | 104 | 368 | 0.2826 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+10545T>A | ||||||
|
chr17:81155394
|
T | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(98): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0060others(22): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(26): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(93): Show | 101 | 368 | 0.2745 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+10544A>T | ||||||
|
chr17:81155396
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(214): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0004a0001c0011others(53): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(68): Show | a0001c0001t0001g0014a0001c0001t0001g0030a0001c0001t0001g0034others(205): Show | 217 | 368 | 0.5897 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+10542T>A | ||||||
|
chr17:81155399
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(234): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0004a0001c0011others(45): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(58): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(220): Show | 237 | 368 | 0.6440 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+10539T>A | ||||||
|
chr17:81155631
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(289): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0004a0001c0011others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(76): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(271): Show | 292 | 368 | 0.7935 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.55+10307T>C | ||||||
|
chr17:81156120
|
ATGTTACA others(51): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(195): Show |
a0001a0002a0003others(17): Show |