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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AARS1_chr16_70247298_70294506 | 70260640 | A | ACAACGT | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0009 | a0002c0004a0009c0009 | a0002c0004t0001a0009c0009t0001 | a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0336 others(22): Show |
25 | 360 | 0.0694 | 6 | c.178 others(23): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 13/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70262967 | C | CAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(45): Show |
48 | 124 | 0.3871 | 6 | c.149 others(23): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70270868 | A | ACTGGGC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(194): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(193): Show |
197 | 359 | 0.5487 | 6 | c.672 others(21): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70272889 | G | GACACAC | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00609.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0038 a0001c0001t0001g0080 a0001c0001t0001g0081 others(9): Show |
13 | 106 | 0.1226 | 6 | c.480 others(21): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70293597 | A | ATTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00609.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0003a0001c0007t0001 | a0001c0001t0001g0010 a0001c0001t0001g0044 a0001c0001t0001g0052 others(29): Show |
32 | 121 | 0.2645 | 6 | c.-42 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4092 | chr16 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44313696 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01106.hp2 others(13): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0005g0004 others(5): Show |
16 | 266 | 0.0602 | 6 | c.-37 others(15): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 350 | chr6 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42956660 | C | CTTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01517.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0073 others(3): Show |
18 | 30 | 0.6000 | 6 | c.390 others(21): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4/11 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42965994 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG01168.hp1 HG02056.hp2 HG02572.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0001a0003c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0091 a0001c0001t0001g0095 others(4): Show |
8 | 47 | 0.1702 | 6 | c.-15 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967297 | A | AATATAT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(65): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0007 | a0001c0001t0001a0004c0005t0001a0005c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(31): Show |
68 | 319 | 0.2132 | 6 | c.-28 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2844 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967332 | A | AATATAT | upstream_gene_variant | MODIFIER | HG02015.hp1 HG02145.hp2 HG03486.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0014 others(2): Show |
6 | 320 | 0.0188 | 6 | c.-28 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2879 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967466 | A | ATAAAAT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(61): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0007 | a0001c0001t0001a0004c0005t0001a0005c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(30): Show |
64 | 321 | 0.1994 | 6 | c.-30 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3013 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967467 | T | TATTTTA | upstream_gene_variant | MODIFIER | HG01993.hp1 HG02922.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0120 |
3 | 317 | 0.0095 | 6 | c.-30 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3014 | chr17 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56334321 | T | TCTTTTA | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033 a0005c0007t0003g0034 a0005c0007t0003g0035 others(5): Show |
8 | 380 | 0.0211 | 6 | c.*40 others(17): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3968 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56386799 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(26): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0005 | a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0298 others(23): Show |
29 | 129 | 0.2248 | 6 | c.-43 others(21): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | chr4 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122146829 | G | GTGTAGC | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00733.hp2 others(53): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(40): Show |
56 | 382 | 0.1466 | 6 | c.-26 others(17): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 2581 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37014267 | G | GTAATAA | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0069 a0001c0001t0001g0070 others(2): Show |
5 | 149 | 0.0336 | 6 | 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 | 37022113 | C | CGTGTGT | intron_variant | MODIFIER | HG01192.hp2 HG01361.hp1 HG01884.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 others(14): Show |
17 | 104 | 0.1635 | 6 | c.154 others(25): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37046730 | A | AACACAC | intron_variant | MODIFIER | HG00735.hp1 HG01361.hp1 HG02293.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0002g0107 a0001c0002t0001g0124 a0001c0002t0002g0109 others(5): Show |
8 | 108 | 0.0741 | 6 | c.162 others(25): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37051693 | G | GACACAC | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00642.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0081 others(24): Show |
27 | 220 | 0.1227 | 6 | c.162 others(25): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81116462 | G | GGCCCCA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(65): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0066others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(61): Show |
68 | 365 | 0.1863 | 6 | c.*19 others(17): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 832 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81119202 | A | AGGTCTG | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG01071.hp1 others(46): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0011a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0020others(13): Show | a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0092 others(41): Show |
49 | 348 | 0.1408 | 6 | c.408 others(23): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81119470 | C | CGGGCGT | conservative_inframe_insertion | MODERATE | HG00280.hp1 HG00558.hp1 HG00597.hp1 others(17): Show |
a0006a0012a0026others(2): Show | a0006c0012a0006c0013a0006c0017others(7): Show | a0006c0012t0001a0006c0012t0008a0006c0013t0001others(8): Show | a0006c0012t0001g0143 a0006c0012t0001g0222 a0006c0012t0008g0103 others(15): Show |
20 | 363 | 0.0551 | 6 | c.398 others(15): Show |
p.Pro others(21): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/14 | 4222/5461 | 3993/4125 | 1331/1374 | chr17 | TogoVar | |||
ABAT_chr16_8669617_8789570 | 8673396 | C | CTGTGTG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01074.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0043others(8): Show | a0001c0001t0001g0184 a0001c0001t0002g0086 a0001c0001t0002g0206 others(13): Show |
16 | 133 | 0.1203 | 6 | c.-13 others(17): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1220 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8682186 | T | TACACAC | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01169.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(6): Show | a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 others(9): Show |
12 | 217 | 0.0553 | 6 | c.-42 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 | CAGAGAG | intron_variant | MODIFIER | NA18747.hp2 NA18991.hp1 NA19057.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0037a0001c0003t0004 | a0001c0001t0001g0288 a0001c0001t0037g0286 a0001c0003t0004g0360 |
3 | 45 | 0.0667 | 6 | c.-41 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGGGAGG | intron_variant | MODIFIER | HG01257.hp1 HG01891.hp2 HG02486.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0007a0002c0009 | a0001c0001t0001a0001c0001t0002a0002c0007t0014others(1): Show | a0001c0001t0001g0240 a0001c0001t0002g0027 a0001c0001t0002g0255 others(2): Show |
5 | 106 | 0.0472 | 6 | c.-41 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8724911 | C | CTCTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(202): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0013others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0091 others(202): Show |
205 | 360 | 0.5694 | 6 | c.-41 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8726262 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(174): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0104 others(174): Show |
177 | 316 | 0.5601 | 6 | 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 | 8729303 | C | CAACAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(200): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0011others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0104 others(200): Show |
203 | 360 | 0.5639 | 6 | 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 | 8729311 | A | ACAAAAT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01257.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0233 a0001c0001t0001g0267 a0001c0001t0001g0313 others(22): Show |
25 | 360 | 0.0694 | 6 | 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 | 8773105 | T | TACACAC | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01346.hp2 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0318 a0001c0001t0003g0092 a0001c0001t0003g0131 others(25): Show |
28 | 55 | 0.5091 | 6 | c.954 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146410 | A | AATATAT | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp2 others(6): Show |
a0007 | a0007c0008 | a0007c0008t0004a0007c0008t0007 | a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 others(5): Show |
9 | 200 | 0.0450 | 6 | c.*24 others(17): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1596 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162808 | T | TATATAC | intron_variant | MODIFIER | HG02165.hp2 HG02523.hp1 HG03130.hp1 others(7): Show |
a0001a0023 | a0001c0001a0023c0036 | a0001c0001t0002a0001c0001t0008a0023c0036t0002 | a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0069 others(7): Show |
10 | 337 | 0.0297 | 6 | c.336 others(25): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69184871 | G | GTGTGTA | intron_variant | MODIFIER | HG01891.hp1 HG03098.hp1 HG03516.hp2 |
a0009 | a0009c0010 | a0009c0010t0006 | a0009c0010t0006g0138 a0009c0010t0006g0143 a0009c0010t0006g0195 |
3 | 122 | 0.0246 | 6 | c.249 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69184916 | T | TACACAC | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01346.hp2 others(8): Show |
a0001a0004a0016 | a0001c0001a0004c0004a0004c0006others(1): Show | a0001c0001t0006a0004c0004t0003a0004c0006t0003others(1): Show | a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 others(8): Show |
11 | 224 | 0.0491 | 6 | c.249 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69185367 | G | GGAGCAA | intron_variant | MODIFIER | HG02723.hp1 HG03486.hp1 NA21309.hp1 |
a0003a0026 | a0003c0003a0026c0023 | a0003c0003t0001a0003c0003t0016a0026c0023t0001 | a0003c0003t0001g0130 a0003c0003t0016g0307 a0026c0023t0001g0212 |
3 | 346 | 0.0087 | 6 | c.249 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69195554 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(170): Show |
a0002a0003a0005others(12): Show | a0002c0002a0002c0015a0003c0003others(17): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(22): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(164): Show |
173 | 185 | 0.9351 | 6 | c.123 others(25): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69197009 | A | AGGGAGG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(125): Show |
a0002a0003a0010others(3): Show | a0002c0002a0002c0015a0003c0003others(5): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(7): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(121): Show |
128 | 297 | 0.4310 | 6 | c.123 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210081 | T | TTTATTA | intron_variant | MODIFIER | HG00140.hp1 HG01884.hp2 HG01891.hp2 others(6): Show |
a0001a0010a0017others(1): Show | a0001c0001a0001c0035a0010c0022others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0035t0002others(3): Show | a0001c0001t0002g0070 a0001c0001t0002g0169 a0001c0001t0002g0177 others(6): Show |
9 | 187 | 0.0481 | 6 | c.100 others(25): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69227114 | G | GATATAT | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 HG03453.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0018a0003c0003t0001 | a0001c0001t0018g0339 a0003c0003t0001g0131 a0003c0003t0001g0132 others(2): Show |
5 | 208 | 0.0240 | 6 | c.-17 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 2/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214949373 | T | TACACAC | intron_variant | MODIFIER | HG02559.hp1 HG02647.hp2 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0045a0001c0051a0002c0008 | a0001c0045t0004a0001c0051t0004a0002c0008t0004others(1): Show | a0001c0045t0004g0067 a0001c0051t0004g0076 a0002c0008t0004g0021 others(4): Show |
7 | 192 | 0.0365 | 6 | c.685 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214950384 | C | CTGTGTG | intron_variant | MODIFIER | HG01255.hp2 HG01943.hp1 HG01993.hp2 others(2): Show |
a0001a0005 | a0001c0011a0005c0024a0005c0034 | a0001c0011t0005a0005c0024t0005a0005c0034t0005 | a0001c0011t0005g0088 a0001c0011t0005g0089 a0005c0024t0005g0093 others(2): Show |
5 | 82 | 0.0610 | 6 | c.685 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214981942 | T | TTTATTA | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG02109.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(13): Show | a0001c0001t0002g0035 a0001c0001t0013g0044 a0001c0002t0001g0041 others(15): Show |
18 | 111 | 0.1622 | 6 | c.457 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATATAT | intron_variant | MODIFIER | HG01243.hp1 HG03130.hp1 HG03139.hp2 others(1): Show |
a0001a0002a0004 | a0001c0068a0002c0007a0004c0060 | a0001c0068t0003a0002c0007t0006a0004c0060t0006 | a0001c0068t0003g0016 a0002c0007t0006g0175 a0002c0007t0006g0176 others(1): Show |
4 | 28 | 0.1429 | 6 | c.382 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016582 | C | CAAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01517.hp1 HG01517.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0011others(11): Show | a0001c0001t0002g0122 a0001c0002t0001g0028 a0001c0002t0001g0055 others(15): Show |
18 | 36 | 0.5000 | 6 | c.178 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215020292 | G | GCACACA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01106.hp2 others(42): Show |
a0001a0002a0004others(5): Show | a0001c0005a0001c0009a0001c0010others(16): Show | a0001c0005t0001a0001c0005t0005a0001c0009t0001others(29): Show | a0001c0005t0001g0124 a0001c0005t0005g0109 a0001c0005t0005g0110 others(42): Show |
45 | 159 | 0.2830 | 6 | c.128 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 11/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215051609 | A | AGTGTGT | intron_variant | MODIFIER | HG01123.hp2 HG01258.hp1 HG01258.hp2 others(8): Show |
a0001a0014 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0022others(7): Show | a0001c0001t0002g0025 a0001c0002t0001g0058 a0001c0002t0022g0148 others(8): Show |
11 | 13 | 0.8462 | 6 | c.507 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215055703 | G | GGAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(141): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(54): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(85): Show | a0001c0001t0002g0025 a0001c0001t0002g0059 a0001c0001t0002g0066 others(141): Show |
144 | 196 | 0.7347 | 6 | c.318 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 3/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215086919 | T | TTTATTA | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG02630.hp1 others(1): Show |
a0001a0004a0006 | a0001c0010a0004c0018a0006c0062 | a0001c0010t0004a0004c0018t0008a0006c0062t0004 | a0001c0010t0004g0113 a0001c0010t0004g0114 a0004c0018t0008g0196 others(1): Show |
4 | 6 | 0.6667 | 6 | c.164 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215087487 | C | CGTGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(136): Show |
a0001a0002a0004others(14): Show | a0001c0001a0001c0002a0001c0003others(44): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(70): Show | a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0059 others(136): Show |
139 | 152 | 0.9145 | 6 | c.164 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar |