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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02129.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0075 a0001c0001t0001g0168 a0001c0001t0001g0193 others(7): Show |
11 | 281 | 0.0391 | 8 | c.249 others(25): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01496.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0130 a0001c0003t0001g0082 a0001c0006t0001g0141 others(1): Show |
4 | 274 | 0.0146 | 8 | c.249 others(25): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 16997414 | C | CGGGGGGG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(22): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0038 others(16): Show |
25 | 205 | 0.1220 | 8 | c.104 others(25): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 11/28 | chr1 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 17001263 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02083.hp1 HG02615.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 others(14): Show |
17 | 141 | 0.1206 | 8 | c.706 others(23): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 8/28 | chr1 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 17003585 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00741.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 others(20): Show |
24 | 122 | 0.1967 | 8 | c.557 others(23): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 6/28 | chr1 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194409693 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG01975.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0018 | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 others(5): Show |
8 | 126 | 0.0635 | 8 | c.357 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194417396 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01192.hp1 HG01884.hp2 others(23): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0048 a0001c0001t0001g0158 a0001c0001t0001g0175 others(23): Show |
26 | 50 | 0.5200 | 8 | c.340 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194417958 | C | CGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02622.hp2 HG03540.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0002g0059 others(3): Show |
6 | 205 | 0.0293 | 8 | c.340 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194421114 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 others(2): Show |
5 | 268 | 0.0187 | 8 | c.331 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194428231 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00621.hp1 others(117): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 others(117): Show |
120 | 274 | 0.4380 | 8 | c.294 others(25): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 28/33 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193412506 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18954.hp2 NA19084.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0001 | a0001c0001t0003g0150 a0001c0001t0003g0190 a0001c0004t0001g0293 |
3 | 28 | 0.1071 | 8 | c.301 others(25): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 26/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193484310 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01884.hp1 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(16): Show | a0001c0001t0001g0223 a0001c0001t0005g0243 a0001c0004t0001g0035 others(35): Show |
38 | 224 | 0.1696 | 8 | c.739 others(23): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193531296 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03453.hp1 NA18967.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001a0002c0003t0002 | a0002c0002t0001g0085 a0002c0003t0001g0058 a0002c0003t0002g0074 |
3 | 127 | 0.0236 | 8 | c.61- others(25): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193543167 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01099.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0001others(12): Show | a0001c0001t0002g0288 a0001c0001t0003g0301 a0001c0004t0001g0286 others(20): Show |
23 | 268 | 0.0858 | 8 | c.60+ others(25): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193270069 | A | AATACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01256.hp2 others(9): Show |
a0001a0003a0004others(4): Show | a0001c0007a0001c0012a0003c0002others(5): Show | a0001c0007t0001a0001c0007t0002a0001c0012t0001others(6): Show | a0001c0007t0001g0030 a0001c0007t0002g0194 a0001c0012t0001g0023 others(9): Show |
12 | 54 | 0.2222 | 8 | c.*49 others(19): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 4719 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193347524 | C | CTTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG01099.hp2 others(46): Show |
a0001a0003a0009others(4): Show | a0001c0006a0001c0012a0001c0013others(6): Show | a0001c0006t0001a0001c0012t0001a0001c0013t0001others(7): Show | a0001c0006t0001g0032 a0001c0012t0001g0021 a0001c0012t0001g0023 others(44): Show |
49 | 134 | 0.3657 | 8 | c.742 others(25): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193362750 | C | CTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02698.hp2 |
a0003a0008 | a0003c0002a0008c0046 | a0003c0002t0001a0008c0046t0002 | a0003c0002t0001g0047 a0008c0046t0002g0254 |
2 | 133 | 0.0150 | 8 | c.385 others(23): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193368392 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01261.hp2 HG01993.hp2 others(28): Show |
a0001a0003a0005others(5): Show | a0001c0007a0003c0002a0005c0005others(7): Show | a0001c0007t0001a0003c0002t0001a0005c0005t0002others(7): Show | a0001c0007t0001g0003 a0001c0007t0001g0174 a0001c0007t0001g0175 others(25): Show |
31 | 44 | 0.7045 | 8 | c.64- others(23): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193374301 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02055.hp2 HG02615.hp2 others(8): Show |
a0001a0003a0009others(1): Show | a0001c0007a0003c0002a0009c0009others(1): Show | a0001c0007t0002a0003c0002t0002a0009c0009t0002others(1): Show | a0001c0007t0002g0189 a0001c0007t0002g0190 a0001c0007t0002g0194 others(8): Show |
11 | 43 | 0.2558 | 8 | c.63+ others(23): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP1A2_chr1_160110759_160148591 | 160111082 | T | TTGCTGTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(101): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 others(78): Show |
104 | 385 | 0.2701 | 8 | c.-47 others(19): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 4676 | chr1 | TogoVar | |||||||
ATP1A2_chr1_160110759_160148591 | 160111638 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01934.hp1 HG02040.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0093 a0001c0001t0001g0252 others(15): Show |
18 | 265 | 0.0679 | 8 | c.-42 others(19): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 4120 | chr1 | TogoVar | |||||||
ATP1A3_chr19_41961582_41999230 | 41972804 | G | GGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00735.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0057 others(34): Show |
37 | 119 | 0.3109 | 8 | c.226 others(27): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 16/22 | chr19 | TogoVar | |||||||
ATP1A3_chr19_41961582_41999230 | 41972871 | A | AAGGCAGG others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03195.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021 a0001c0001t0002g0247 a0001c0001t0002g0263 |
3 | 252 | 0.0119 | 8 | c.226 others(27): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 16/22 | chr19 | TogoVar | |||||||
ATP1A4_chr1_160146603_160191980 | 160186086 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01433.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0044others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0044t0005others(1): Show | a0001c0001t0001g0105 a0001c0001t0001g0248 a0001c0001t0001g0259 others(7): Show |
10 | 105 | 0.0952 | 8 | c.297 others(25): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169135014 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01934.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0105 a0001c0001t0001g0232 a0001c0001t0002g0001 others(10): Show |
14 | 93 | 0.1505 | 8 | c.*34 others(19): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2296 | chr1 | TogoVar | |||||||
ATP1B2_chr17_7645926_7662770 | 7660810 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01256.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0011a0001c0001t0018others(2): Show | a0001c0001t0003g0002 a0001c0001t0011g0003 a0001c0001t0018g0012 others(2): Show |
7 | 54 | 0.1296 | 8 | c.*49 others(19): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 3041 | chr17 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAAATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG02148.hp1 HG03831.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0258 others(4): Show |
7 | 112 | 0.0625 | 8 | c.-23 others(19): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141885880 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG02040.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0117 a0001c0001t0001g0180 a0001c0001t0001g0226 others(6): Show |
9 | 127 | 0.0709 | 8 | c.109 others(25): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120374730 | T | TAATATAT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02818.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0048 a0001c0001t0001g0162 a0001c0001t0005g0049 others(4): Show |
10 | 351 | 0.0285 | 8 | c.563 others(23): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | chrX | TogoVar | |||||||
ATP23_chr12_57936567_57964148 | 57937731 | C | CAAAAAAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(142): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002a0002c0001t0004others(5): Show | a0002c0001t0001g0001 a0002c0001t0001g0005 a0002c0001t0001g0023 others(54): Show |
145 | 392 | 0.3699 | 8 | c.-39 others(19): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 3835 | chr12 | TogoVar | |||||||
ATP23_chr12_57936567_57964148 | 57955280 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0015 | a0001c0003t0001g0009 a0001c0003t0001g0092 a0001c0003t0002g0009 others(1): Show |
8 | 143 | 0.0559 | 8 | c.538 others(25): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110293826 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0004g0005 others(2): Show |
5 | 103 | 0.0485 | 8 | c.324 others(25): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110293864 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0167 a0001c0001t0004g0168 |
2 | 196 | 0.0102 | 8 | c.324 others(25): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3940031 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02258.hp1 others(6): Show |
a0002 | a0002c0006a0002c0021a0002c0022others(1): Show | a0002c0006t0001a0002c0006t0010a0002c0006t0025others(3): Show | a0002c0006t0001g0052 a0002c0006t0001g0055 a0002c0006t0001g0056 others(5): Show |
9 | 313 | 0.0288 | 8 | c.210 others(25): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 14/20 | chr17 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3958849 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG01346.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0008others(2): Show | a0001c0001t0001g0296 a0001c0002t0004g0138 a0001c0002t0008g0139 others(2): Show |
5 | 301 | 0.0166 | 8 | c.119 others(25): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3965877 | T | TTATTATT others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01071.hp1 others(8): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0003t0001a0001c0003t0006a0001c0004t0001others(5): Show | a0001c0003t0001g0049 a0001c0003t0006g0050 a0001c0004t0001g0037 others(7): Show |
11 | 294 | 0.0374 | 8 | c.-15 others(19): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1441 | chr17 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89643065 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03516.hp2 NA18962.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0159 a0001c0004t0001g0034 a0001c0004t0001g0119 |
3 | 156 | 0.0192 | 8 | c.209 others(23): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89643065 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0021 | a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0054 others(1): Show |
4 | 157 | 0.0255 | 8 | c.209 others(23): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89658598 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00741.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0037 a0001c0001t0001g0066 a0001c0001t0001g0073 others(34): Show |
37 | 82 | 0.4512 | 8 | c.-22 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89659357 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01261.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0127 |
3 | 164 | 0.0183 | 8 | c.-22 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677960 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02723.hp1 NA19067.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0006t0001g0032 |
3 | 330 | 0.0091 | 8 | c.-22 others(29): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677971 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007 | a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0006g0246 others(1): Show |
4 | 212 | 0.0189 | 8 | c.-22 others(29): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89695058 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0001t0001g0086 others(44): Show |
49 | 131 | 0.3740 | 8 | c.-22 others(29): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89695067 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00558.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0181 others(31): Show |
34 | 303 | 0.1122 | 8 | c.-22 others(29): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10319864 | C | CGAGAGAG others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(222): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(89): Show | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0063 others(220): Show |
225 | 266 | 0.8459 | 8 | c.*89 others(19): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 4158 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10319864 | C | CGGGAGAG others(1): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02055.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0048others(10): Show | a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0218 others(18): Show |
21 | 62 | 0.3387 | 8 | c.*89 others(19): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 4158 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10486320 | C | CGTGCGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02074.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0003t0001a0001c0004t0001a0001c0005t0001others(3): Show | a0001c0003t0001g0027 a0001c0004t0001g0238 a0001c0005t0001g0254 others(3): Show |
6 | 286 | 0.0210 | 8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10488232 | C | CCCATCCA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00735.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0048others(13): Show | a0001c0001t0001g0145 a0001c0001t0004g0227 a0001c0001t0048g0276 others(15): Show |
18 | 207 | 0.0870 | 8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10488234 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02056.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0006a0001c0003t0027a0001c0003t0029others(8): Show | a0001c0002t0006g0006 a0001c0003t0027g0243 a0001c0003t0029g0215 others(8): Show |
11 | 160 | 0.0688 | 8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10488463 | A | ATTCATTC others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02056.hp1 HG02257.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0005a0001c0004t0001a0001c0004t0052others(3): Show | a0001c0001t0005g0205 a0001c0004t0001g0175 a0001c0004t0052g0016 others(3): Show |
6 | 160 | 0.0375 | 8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar |