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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1A_chr3_113742035_113817056 | 113771170 | GTTTGT | G | intron_variant | MODIFIER | HG01891.hp2 HG01934.hp2 HG01952.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0137 a0001c0001t0006g0011 a0001c0001t0006g0138 others(5): Show |
9 | 310 | 0.0290 | -5 | c.-13 others(22): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113808145 | CAAAGA | C | intron_variant | MODIFIER | HG01891.hp2 HG03098.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019 | a0001c0001t0007g0279 a0001c0001t0007g0280 a0001c0001t0019g0281 |
3 | 309 | 0.0097 | -5 | c.176 others(24): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70966592 | AAAAAG | A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0001c0035others(4): Show | a0001c0001t0001a0001c0017t0004a0001c0017t0009others(5): Show | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 others(12): Show |
15 | 438 | 0.0342 | -5 | c.*14 others(16): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1162 | chr2 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10719586 | AGTTTT | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01099.hp2 HG01255.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0113 a0001c0001t0001g0210 a0001c0001t0001g0211 others(26): Show |
29 | 352 | 0.0824 | -5 | c.-21 others(16): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2043 | chr2 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10749130 | CAAAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG02280.hp2 HG02965.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0002c0002t0001a0002c0002t0007others(2): Show | a0001c0001t0016g0220 a0002c0002t0001g0096 a0002c0002t0001g0161 others(3): Show |
6 | 87 | 0.0690 | -5 | c.198 others(22): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10767808 | ATTTAT | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01192.hp1 |
a0002 | a0002c0007 | a0002c0007t0009 | a0002c0007t0009g0040 a0002c0007t0009g0041 a0002c0007t0009g0151 |
3 | 352 | 0.0085 | -5 | c.379 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10789407 | GAAAAC | G | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01433.hp2 HG01934.hp2 others(13): Show |
a0001a0002a0004 | a0001c0006a0002c0004a0004c0011 | a0001c0006t0005a0002c0004t0005a0004c0011t0017 | a0001c0006t0005g0038 a0001c0006t0005g0321 a0001c0006t0005g0323 others(13): Show |
16 | 221 | 0.0724 | -5 | c.*61 others(16): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4298 | chr2 | TogoVar | |||||||
ATP6V1D_chr14_67332872_67364804 | 67355449 | CAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG02273.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0043 a0001c0001t0001g0165 a0001c0001t0002g0095 others(2): Show |
6 | 47 | 0.1277 | -5 | c.42- others(20): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
ATP6V1G3_chr1_198518222_198545680 | 198543384 | GTTATT | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00735.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0006 a0001c0001t0001g0056 a0001c0001t0001g0082 others(2): Show |
14 | 404 | 0.0347 | -5 | c.-27 others(16): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 2705 | chr1 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755735 | TATATA | T | intron_variant | MODIFIER | HG00741.hp1 NA18973.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0195 a0001c0001t0001g0240 |
3 | 280 | 0.0107 | -5 | c.127 others(22): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53765451 | AACAAC | A | intron_variant | MODIFIER | HG01109.hp2 HG03041.hp2 NA18963.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0187 others(5): Show |
8 | 216 | 0.0370 | -5 | c.117 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 77906971 | GTTGTT | G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02572.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0007 a0001c0001t0003g0016 a0001c0001t0003g0017 others(14): Show |
17 | 231 | 0.0736 | -5 | c.-38 others(16): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 3721 | chrX | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 78013892 | CTAAGT | C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(80): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0003a0001c0001t0014a0002c0002t0002others(9): Show | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0014g0014 others(79): Show |
83 | 231 | 0.3593 | -5 | c.240 others(22): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51940000 | CTTTTT | C | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp2 HG01168.hp1 others(26): Show |
a0002a0003a0009others(2): Show | a0002c0002a0002c0014a0003c0003others(5): Show | a0002c0002t0002a0002c0002t0007a0002c0002t0009others(10): Show | a0002c0002t0002g0117 a0002c0002t0002g0136 a0002c0002t0007g0039 others(24): Show |
29 | 47 | 0.6170 | -5 | c.355 others(22): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 16/20 | chr13 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42448828 | GTTTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(89): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0112 a0001c0001t0001g0147 a0001c0001t0002g0051 others(89): Show |
92 | 101 | 0.9109 | -5 | c.289 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42500365 | AAAAAC | A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00621.hp2 others(89): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(89): Show |
92 | 236 | 0.3898 | -5 | c.215 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 24/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42528371 | TGCCAC | T | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0277 a0001c0001t0003g0280 a0001c0001t0003g0281 others(2): Show |
5 | 308 | 0.0162 | -5 | c.172 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 20/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42529929 | GCATGA | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0004a0001c0001t0015a0001c0002t0004others(2): Show | a0001c0001t0004g0043 a0001c0001t0015g0011 a0001c0002t0004g0023 others(5): Show |
8 | 308 | 0.0260 | -5 | c.172 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 20/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555134 | TATCTA | T | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0002g0176 others(3): Show |
6 | 296 | 0.0203 | -5 | c.141 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42651181 | CCATGT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00738.hp1 others(47): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 others(47): Show |
50 | 308 | 0.1623 | -5 | c.49+ others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42660733 | AAAAAT | A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01256.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0027 others(13): Show |
16 | 308 | 0.0519 | -5 | c.-38 others(16): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 3629 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25446846 | ATTTTG | A | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(63): Show | a0001c0001t0002g0079 a0001c0001t0004g0046 a0001c0001t0009g0065 others(69): Show |
72 | 120 | 0.6000 | -5 | c.77- others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25490732 | TTTTTG | T | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01070.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0001g0036 a0001c0001t0003g0093 a0001c0001t0011g0061 others(6): Show |
9 | 120 | 0.0750 | -5 | c.221 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25531163 | ATATGT | A | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 NA19030.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0024a0001c0001t0054a0001c0001t0064others(2): Show | a0001c0001t0024g0004 a0001c0001t0054g0103 a0001c0001t0064g0072 others(2): Show |
5 | 120 | 0.0417 | -5 | c.420 others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25531395 | TGATTA | T | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01175.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0008a0001c0001t0010others(10): Show | a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0008g0073 others(11): Show |
14 | 120 | 0.1167 | -5 | c.420 others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25601455 | GTTTGT | G | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0001t0053a0001c0002t0001others(7): Show | a0001c0001t0003g0093 a0001c0001t0053g0114 a0001c0002t0001g0069 others(7): Show |
10 | 120 | 0.0833 | -5 | c.221 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25688411 | GAAGAT | G | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(43): Show | a0001c0001t0003g0093 a0001c0001t0004g0040 a0001c0001t0004g0046 others(46): Show |
49 | 120 | 0.4083 | -5 | c.221 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25738347 | CCCCCA | C | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01081.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0074others(8): Show | a0001c0001t0002g0079 a0001c0001t0013g0006 a0001c0001t0074g0116 others(8): Show |
11 | 120 | 0.0917 | -5 | c.238 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25813382 | TATATG | T | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01069.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0018a0001c0001t0030others(13): Show | a0001c0001t0003g0093 a0001c0001t0018g0041 a0001c0001t0030g0091 others(13): Show |
16 | 52 | 0.3077 | -5 | c.268 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25853397 | ATATAT | A | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0042a0001c0002t0001others(1): Show | a0001c0001t0018g0041 a0001c0001t0042g0059 a0001c0002t0001g0039 others(1): Show |
4 | 120 | 0.0333 | -5 | c.295 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25869068 | CAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01261.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0018a0001c0001t0030a0001c0001t0042others(11): Show | a0001c0001t0018g0041 a0001c0001t0030g0091 a0001c0001t0042g0059 others(11): Show |
14 | 39 | 0.3590 | -5 | c.318 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25896509 | GTTGAT | G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0008a0001c0001t0010a0001c0001t0025others(29): Show | a0001c0001t0008g0073 a0001c0001t0010g0100 a0001c0001t0025g0009 others(29): Show |
32 | 120 | 0.2667 | -5 | c.318 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25947430 | TGAGGC | T | intron_variant | MODIFIER | HG02723.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0030a0001c0007t0007 | a0001c0001t0030g0091 a0001c0007t0007g0094 |
2 | 120 | 0.0167 | -5 | c.318 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25953542 | AAAAAG | A | intron_variant | MODIFIER | HG01081.hp2 HG02257.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0025a0001c0002t0031a0001c0003t0008others(4): Show | a0001c0001t0025g0009 a0001c0002t0031g0058 a0001c0003t0008g0010 others(4): Show |
7 | 120 | 0.0583 | -5 | c.318 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | chr13 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680277 | CAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01358.hp2 HG01993.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0066 a0001c0001t0003g0235 a0001c0001t0003g0239 others(13): Show |
16 | 29 | 0.5517 | -5 | c.163 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680585 | AAAAAC | A | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG00735.hp1 others(26): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0086 a0001c0001t0001g0098 others(26): Show |
29 | 209 | 0.1388 | -5 | c.163 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57690014 | TCAAAA | T | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02922.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0004g0122 a0001c0001t0007g0212 a0001c0001t0007g0247 others(7): Show |
10 | 312 | 0.0321 | -5 | c.122 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 12/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57717547 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(47): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0058 others(47): Show |
50 | 56 | 0.8929 | -5 | c.182 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57729549 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(161): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0043 others(161): Show |
164 | 165 | 0.9939 | -5 | c.181 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57733705 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(150): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0043 others(150): Show |
153 | 163 | 0.9387 | -5 | c.-25 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57738631 | TAAATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(303): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(303): Show |
306 | 312 | 0.9808 | -5 | c.-25 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57759155 | CAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG01168.hp2 HG02080.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0043 a0001c0001t0002g0275 a0001c0001t0004g0124 others(11): Show |
14 | 82 | 0.1707 | -5 | c.-25 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57761112 | TATAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(61): Show |
a0001a0004 | a0001c0001a0001c0007a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0112 others(61): Show |
64 | 140 | 0.4571 | -5 | c.-25 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57764757 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG02280.hp1 HG02809.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0003g0195 a0001c0001t0004g0113 a0001c0001t0004g0122 others(8): Show |
11 | 113 | 0.0973 | -5 | c.-25 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57768386 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG02280.hp1 HG02818.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(3): Show | a0001c0001t0004g0113 a0001c0001t0004g0122 a0001c0001t0007g0212 others(6): Show |
9 | 72 | 0.1250 | -5 | c.-26 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57782803 | CTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG02895.hp2 others(10): Show |
a0001a0003a0004 | a0001c0001a0001c0013a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0112 others(10): Show |
13 | 15 | 0.8667 | -5 | c.-26 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B2_chr1_154320525_154356304 | 154333643 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(80): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0009others(8): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0003t0002g0004 others(45): Show |
83 | 117 | 0.7094 | -5 | c.590 others(20): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49883827 | CAAGTA | C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02622.hp2 |
a0004a0007 | a0004c0004a0007c0008 | a0004c0004t0009a0007c0008t0009a0007c0008t0017 | a0004c0004t0009g0089 a0007c0008t0009g0178 a0007c0008t0017g0021 |
3 | 252 | 0.0119 | -5 | c.269 others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 23/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50017991 | CTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01255.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 others(12): Show |
15 | 44 | 0.3409 | -5 | c.363 others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50051451 | AAGAAG | A | intron_variant | MODIFIER | HG02074.hp2 NA18951.hp2 NA18955.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0206 a0001c0001t0002g0056 a0002c0002t0001g0189 others(7): Show |
10 | 252 | 0.0397 | -5 | c.88- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar |