view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AASDH_chr4_56333290_56392491 | 56339748 | C | CAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01069.hp2 others(37): Show |
a0001a0005 | a0001c0005a0005c0007 | a0001c0005t0001a0001c0005t0005a0005c0007t0003 | a0001c0005t0001g0011 a0001c0005t0001g0032 a0001c0005t0001g0050 others(35): Show |
40 | 120 | 0.3333 | 4 | c.290 others(21): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56340077 | G | GAGAA | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG03195.hp1 |
a0007 | a0007c0009 | a0007c0009t0004 | a0007c0009t0004g0029 a0007c0009t0004g0331 |
3 | 380 | 0.0079 | 4 | c.290 others(23): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56386799 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(53): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0005a0001c0010others(3): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0283 a0001c0005t0001g0242 a0001c0010t0001g0280 others(48): Show |
56 | 156 | 0.3590 | 4 | c.-43 others(19): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | chr4 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122069290 | G | GATTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(86): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 others(70): Show |
89 | 382 | 0.2330 | 4 | c.*71 others(15): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 4258 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37001395 | A | AGGAG | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01071.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0069 a0001c0001t0001g0159 a0001c0001t0001g0171 others(22): Show |
25 | 212 | 0.1179 | 4 | c.139 others(25): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37001405 | G | GAGGA | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01175.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0055 a0001c0001t0001g0118 a0001c0001t0001g0120 others(20): Show |
23 | 138 | 0.1667 | 4 | c.139 others(25): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37009823 | C | CAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02109.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0033 others(6): Show |
9 | 114 | 0.0789 | 4 | c.139 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37022113 | C | CGTGT | intron_variant | MODIFIER | HG01109.hp1 HG02027.hp2 HG02559.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0001others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0041 others(10): Show |
13 | 100 | 0.1300 | 4 | c.154 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37046730 | A | AACAC | intron_variant | MODIFIER | HG00099.hp1 HG01346.hp1 HG01346.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0049 a0001c0001t0001g0207 others(6): Show |
10 | 110 | 0.0909 | 4 | c.162 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37051693 | G | GACAC | intron_variant | MODIFIER | HG00735.hp1 HG01361.hp1 HG01884.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0105 a0001c0001t0002g0107 others(3): Show |
6 | 199 | 0.0302 | 4 | c.162 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37051697 | G | GACAC | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01884.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0022 others(14): Show |
17 | 128 | 0.1328 | 4 | c.162 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81119207 | C | CGGGA | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG01071.hp1 others(45): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0011a0003c0003others(9): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0020others(12): Show | a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0092 others(40): Show |
48 | 359 | 0.1337 | 4 | c.408 others(21): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81137920 | G | GCACA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0004a0001c0011others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(75): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(292): Show |
313 | 365 | 0.8575 | 4 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81138455 | G | GCACA | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(17): Show |
a0003a0006a0007others(6): Show | a0003c0003a0003c0007a0003c0020others(11): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(12): Show | a0003c0003t0002g0010 a0003c0003t0002g0038 a0003c0007t0001g0116 others(15): Show |
20 | 42 | 0.4762 | 4 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81141917 | C | CTCCT | intron_variant | MODIFIER | HG00735.hp2 HG01255.hp2 HG01496.hp1 others(2): Show |
a0003a0005a0007others(1): Show | a0003c0009a0005c0006a0007c0008others(1): Show | a0003c0009t0001a0005c0006t0003a0007c0008t0001others(1): Show | a0003c0009t0001g0243 a0003c0009t0001g0253 a0005c0006t0003g0294 others(2): Show |
5 | 270 | 0.0185 | 4 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81142199 | T | TCCAC | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(5): Show |
a0003a0005a0007 | a0003c0003a0003c0007a0003c0020others(2): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(2): Show | a0003c0003t0002g0010 a0003c0003t0002g0038 a0003c0007t0001g0116 others(3): Show |
8 | 366 | 0.0219 | 4 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81146188 | T | TAAAA | intron_variant | MODIFIER | HG00735.hp2 HG02004.hp2 HG02027.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0002others(6): Show | a0001c0001t0001a0001c0011t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0250 a0001c0001t0001g0279 a0001c0001t0001g0280 others(15): Show |
20 | 190 | 0.1053 | 4 | c.56- others(21): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81166503 | C | CGGGG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(48): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0011others(13): Show | a0001c0001t0001a0001c0004t0001a0001c0011t0001others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0027 others(45): Show |
51 | 185 | 0.2757 | 4 | c.-51 others(13): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 283 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81169745 | C | CGTAT | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01081.hp1 others(31): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0007others(10): Show | a0001c0001t0001a0001c0001t0020a0002c0002t0006others(12): Show | a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0001g0135 others(26): Show |
34 | 364 | 0.0934 | 4 | c.-37 others(15): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 3525 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8673396 | C | CTGTG | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00673.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0011 a0001c0001t0001g0051 a0001c0001t0001g0240 others(49): Show |
52 | 169 | 0.3077 | 4 | c.-13 others(15): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1220 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8682186 | T | TACAC | intron_variant | MODIFIER | HG01258.hp1 HG01891.hp1 HG01943.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0003a0001c0001t0005a0001c0003t0001others(11): Show | a0001c0001t0003g0353 a0001c0001t0005g0226 a0001c0001t0005g0294 others(14): Show |
17 | 222 | 0.0766 | 4 | c.-42 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8683868 | C | CATTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0051 others(215): Show |
218 | 360 | 0.6056 | 4 | c.-42 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8707353 | A | ATTTT | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00735.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0155 a0001c0001t0002g0062 a0001c0001t0002g0116 others(13): Show |
16 | 118 | 0.1356 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8709350 | T | TTTTA | intron_variant | MODIFIER | HG01993.hp2 HG02004.hp1 HG02148.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0003others(3): Show | a0001c0001t0001g0282 a0001c0001t0005g0294 a0001c0003t0003g0295 others(5): Show |
8 | 88 | 0.0909 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710683 | T | TGAGA | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 NA19240.hp1 |
a0002a0003 | a0002c0002a0002c0007a0003c0010 | a0002c0002t0020a0002c0007t0007a0003c0010t0001 | a0002c0002t0020g0238 a0002c0007t0007g0242 a0003c0010t0001g0234 |
3 | 347 | 0.0086 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710694 | C | CAGAG | intron_variant | MODIFIER | HG01993.hp2 HG02004.hp1 HG02040.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0282 a0001c0001t0004g0118 a0001c0001t0005g0294 others(10): Show |
13 | 55 | 0.2364 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710717 | A | AGAGG | intron_variant | MODIFIER | HG02451.hp2 HG02698.hp2 HG02896.hp2 others(5): Show |
a0001a0002 | a0001c0003a0002c0004a0002c0006others(1): Show | a0001c0003t0003a0002c0004t0001a0002c0006t0005others(2): Show | a0001c0003t0003g0345 a0001c0003t0003g0355 a0002c0004t0001g0057 others(5): Show |
8 | 302 | 0.0265 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8711786 | A | AGATG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0219 a0001c0001t0001g0288 a0001c0001t0001g0313 others(32): Show |
35 | 323 | 0.1084 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8711810 | G | GGATA | intron_variant | MODIFIER | HG01192.hp2 HG01257.hp1 HG02027.hp2 others(20): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0221 others(20): Show |
23 | 124 | 0.1855 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8724915 | T | TTTTC | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00673.hp2 others(48): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0023others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0031 a0001c0001t0001g0101 a0001c0001t0001g0114 others(48): Show |
51 | 360 | 0.1417 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737484 | A | AAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(315): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0011others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(88): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0060 others(315): Show |
318 | 359 | 0.8858 | 4 | c.70+ others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8738616 | G | GTTTT | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00735.hp2 others(23): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004others(1): Show | a0001c0003t0003a0002c0002t0001a0002c0002t0002others(10): Show | a0001c0003t0003g0084 a0002c0002t0001g0077 a0002c0002t0001g0163 others(23): Show |
26 | 329 | 0.0790 | 4 | c.70+ others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8738627 | T | TTTTG | intron_variant | MODIFIER | HG00673.hp2 HG02132.hp1 HG02132.hp2 others(1): Show |
a0002 | a0002c0002a0002c0004a0002c0006 | a0002c0002t0002a0002c0004t0001a0002c0004t0003others(1): Show | a0002c0002t0002g0053 a0002c0004t0001g0115 a0002c0004t0003g0165 others(1): Show |
4 | 359 | 0.0111 | 4 | c.70+ others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8743007 | T | TAAAA | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01169.hp2 others(32): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0013others(4): Show | a0001c0001t0004a0001c0003t0003a0001c0003t0004others(14): Show | a0001c0001t0004g0268 a0001c0003t0003g0359 a0001c0003t0004g0284 others(32): Show |
35 | 71 | 0.4930 | 4 | c.71- others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743318 | C | CTGTG | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 NA18946.hp2 others(1): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0017others(1): Show | a0002c0002t0001g0081 a0002c0002t0002g0177 a0002c0002t0017g0048 others(1): Show |
4 | 48 | 0.0833 | 4 | c.71- others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATAC | intron_variant | MODIFIER | HG02155.hp1 NA19006.hp1 NA19006.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0361 a0001c0001t0003g0032 a0001c0003t0003g0089 others(1): Show |
4 | 102 | 0.0392 | 4 | c.71- others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8749386 | C | CTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00621.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0031 a0001c0001t0001g0068 a0001c0001t0001g0145 others(60): Show |
63 | 105 | 0.6000 | 4 | c.199 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8754662 | A | ATTTC | intron_variant | MODIFIER | HG02965.hp2 HG03098.hp2 HG03486.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006a0002c0002t0019others(1): Show | a0002c0002t0003g0239 a0002c0002t0006g0348 a0002c0002t0019g0002 others(1): Show |
4 | 24 | 0.1667 | 4 | c.317 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8757169 | T | TTTTA | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00621.hp2 others(63): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0003others(22): Show | a0001c0001t0002g0138 a0001c0001t0002g0350 a0001c0001t0003g0131 others(63): Show |
66 | 360 | 0.1833 | 4 | c.317 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8764843 | G | GCACA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(3): Show | a0001c0001t0002a0001c0003t0001a0001c0021t0001others(8): Show | a0001c0001t0002g0043 a0001c0003t0001g0247 a0001c0021t0001g0120 others(13): Show |
16 | 310 | 0.0516 | 4 | c.540 others(17): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8773105 | T | TACAC | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01081.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0184 others(26): Show |
29 | 56 | 0.5179 | 4 | c.954 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8775565 | T | TACAC | intron_variant | MODIFIER | HG02486.hp1 HG03041.hp1 HG03195.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0233 a0002c0002t0001g0009 a0002c0002t0001g0266 others(2): Show |
5 | 21 | 0.2381 | 4 | c.112 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8777955 | A | AAAAG | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG01496.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0001g0011 a0001c0001t0001g0240 a0001c0001t0003g0036 others(22): Show |
25 | 360 | 0.0694 | 4 | c.126 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69143833 | G | GTAGA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(113): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0034a0002c0002others(15): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0013others(24): Show | a0001c0001t0002g0015 a0001c0001t0002g0029 a0001c0001t0002g0031 others(112): Show |
116 | 187 | 0.6203 | 4 | c.*49 others(15): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 4173 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69144765 | T | TTTTC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(235): Show |
a0002a0003a0004others(16): Show | a0002c0002a0002c0015a0003c0003others(25): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(33): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(228): Show |
238 | 346 | 0.6879 | 4 | c.*40 others(15): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 3241 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69152802 | G | GTAAA | intron_variant | MODIFIER | HG01884.hp1 HG03041.hp2 NA19043.hp2 |
a0001a0003a0006 | a0001c0001a0003c0028a0006c0007 | a0001c0001t0002a0003c0028t0006a0006c0007t0010 | a0001c0001t0002g0178 a0003c0028t0006g0249 a0006c0007t0010g0338 |
3 | 140 | 0.0214 | 4 | c.413 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 34/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69184916 | T | TACAC | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00733.hp2 others(40): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0003c0025others(5): Show | a0001c0001t0002a0003c0003t0001a0003c0025t0001others(7): Show | a0001c0001t0002g0300 a0003c0003t0001g0202 a0003c0025t0001g0045 others(38): Show |
43 | 256 | 0.1680 | 4 | c.249 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69192312 | A | AAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(234): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(32): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(227): Show |
237 | 346 | 0.6850 | 4 | c.187 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 16/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69208417 | C | CAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 HG02451.hp2 others(6): Show |
a0007a0008a0014others(1): Show | a0007c0008a0008c0009a0014c0020others(1): Show | a0007c0008t0007a0008c0009t0009a0014c0020t0006others(1): Show | a0007c0008t0007g0332 a0007c0008t0007g0334 a0007c0008t0007g0335 others(5): Show |
9 | 109 | 0.0826 | 4 | c.100 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69218693 | G | GCTCT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp2 others(6): Show |
a0007 | a0007c0008 | a0007c0008t0004a0007c0008t0007 | a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 others(5): Show |
9 | 346 | 0.0260 | 4 | c.530 others(19): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 6/38 | chr17 | TogoVar |