regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP13A1_chr19_19640198_19668676 | 19648500 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 2 | 380 | 0.0053 | -12 | c.263 others(29): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 19/25 | chr19 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19658149 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02074.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 3 | 380 | 0.0079 | -12 | c.678 others(27): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 3/25 | chr19 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | GTTTTTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02922.hp2 HG03579.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(1): Show | 6 | 380 | 0.0158 | -12 | c.-29 others(23): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19667309 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0125 | 1 | 380 | 0.0026 | -12 | c.-36 others(23): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 3634 | chr19 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 16986749 | CCCCAGGG others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(124): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0016others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(108): Show | 127 | 366 | 0.3470 | -12 | c.323 others(27): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 27/28 | chr1 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17003585 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | NA20129.hp1 NA20805.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 2 | 366 | 0.0055 | -12 | c.557 others(27): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 6/28 | chr1 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17006395 | CATGCACC others(5): Show |
C | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 366 | 0.0027 | -12 | c.11- others(25): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 1/28 | chr1 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17013774 | AAAATAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(121): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(104): Show | 124 | 366 | 0.3388 | -12 | c.-20 others(23): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 1847 | chr1 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194409693 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0023 | a0001c0001t0007g0182a0001c0001t0007g0183a0001c0001t0007g0184others(6): Show | 9 | 304 | 0.0296 | -12 | c.357 others(31): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194417396 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0256a0001c0001t0014g0257a0001c0001t0014g0258others(1): Show | 4 | 304 | 0.0132 | -12 | c.340 others(31): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194417954 | CGGACGGA others(5): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0231 | 1 | 304 | 0.0033 | -12 | c.340 others(31): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194427635 | CAATAAAT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02055.hp2 HG02257.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0162a0001c0001t0002g0230a0001c0001t0005g0047others(14): Show | 17 | 304 | 0.0559 | -12 | c.294 others(29): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 28/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194449044 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01099.hp2 others(28): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0181a0001c0001t0004g0006a0001c0001t0004g0017others(28): Show | 31 | 304 | 0.1020 | -12 | c.971 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 11/33 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193412506 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(35): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0216a0001c0001t0002g0234a0001c0001t0003g0137others(35): Show | 38 | 302 | 0.1258 | -12 | c.301 others(29): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 26/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193418121 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG02572.hp1 others(6): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0002a0001c0006t0007a0002c0002t0024others(5): Show | a0001c0001t0002g0185a0001c0006t0007g0029a0001c0006t0007g0030others(6): Show | 9 | 302 | 0.0298 | -12 | c.284 others(31): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 25/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193496797 | CATAAATA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(68): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0008a0002c0002others(6): Show | a0001c0004t0001a0001c0004t0003a0001c0004t0004others(22): Show | a0001c0004t0001g0036a0001c0004t0001g0043a0001c0004t0001g0269others(68): Show | 71 | 302 | 0.2351 | -12 | c.382 others(29): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193531296 | GAGGAAGG others(5): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0008 | a0001c0008t0027 | a0001c0008t0027g0005 | 1 | 302 | 0.0033 | -12 | c.61- others(29): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193545973 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01934.hp2 HG02622.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0025a0002c0002t0002others(2): Show | a0001c0001t0001g0037a0001c0001t0025g0021a0002c0002t0002g0023others(3): Show | 6 | 302 | 0.0199 | -12 | c.60+ others(27): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193554653 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01071.hp1 HG01256.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0276a0001c0001t0002g0288a0001c0001t0003g0301others(32): Show | 35 | 302 | 0.1159 | -12 | c.60+ others(23): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193362750 | CTTCTTTC others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00735.hp2 others(32): Show |
a0001a0002a0003others(5): Show | a0001c0012a0001c0013a0002c0001others(6): Show | a0001c0012t0001a0001c0013t0002a0002c0001t0001others(7): Show | a0001c0012t0001g0020a0001c0012t0001g0022a0001c0013t0002g0243others(28): Show | 35 | 284 | 0.1232 | -12 | c.385 others(27): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160111638 | TTTTATTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01891.hp2 HG02109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0001g0096a0001c0001t0001g0113a0001c0001t0001g0215others(10): Show | 13 | 414 | 0.0314 | -12 | c.-42 others(23): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 4120 | chr1 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160112970 | TGTCACAC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02723.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0005a0001c0013t0005 | a0001c0001t0005g0148a0001c0001t0005g0149a0001c0013t0005g0147 | 3 | 414 | 0.0073 | -12 | c.-28 others(23): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 2788 | chr1 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160115670 | TGTTTCAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 414 | 0.0024 | -12 | c.-19 others(21): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 88 | chr1 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160119256 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 414 | 0.0024 | -12 | c.13- others(27): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1A3_chr19_41961582_41999230 | 41972804 | GGGAAGGA others(5): Show |
G | intron_variant | MODIFIER | HG02129.hp1 HG02145.hp2 HG02897.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0067a0001c0001t0001g0073a0001c0001t0001g0074others(6): Show | 9 | 282 | 0.0319 | -12 | c.226 others(31): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 16/22 | chr19 | TogoVar | ||||||
ATP1A3_chr19_41961582_41999230 | 41993501 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 282 | 0.0036 | -12 | c.6+5 others(23): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 1/22 | chr19 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160150980 | TTTTGTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG01109.hp2 others(14): Show |
a0001a0008a0015 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(6): Show | a0001c0001t0001g0103a0001c0001t0004g0004a0001c0001t0004g0093others(13): Show | 17 | 418 | 0.0407 | -12 | c.-10 others(23): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 622 | chr1 | TogoVar | ||||||
ATP1B2_chr17_7645926_7662770 | 7648567 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0003 | 1 | 440 | 0.0023 | -12 | c.-29 others(23): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 2358 | chr17 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874406 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0314 | 1 | 408 | 0.0025 | -12 | c.-23 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2236 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874428 | AAAAAAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0106a0001c0001t0003g0309a0001c0001t0003g0312others(3): Show | 6 | 408 | 0.0147 | -12 | c.-23 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2214 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874779 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 408 | 0.0025 | -12 | c.-20 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1863 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141885880 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 408 | 0.0025 | -12 | c.109 others(29): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141889756 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02602.hp1 HG02738.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023a0001c0001t0003g0025a0001c0001t0003g0075 | 3 | 408 | 0.0074 | -12 | c.109 others(31): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141912266 | CTTATTTA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01069.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0016 | a0001c0001t0004g0010a0001c0001t0004g0336a0001c0001t0004g0337others(61): Show | 65 | 408 | 0.1593 | -12 | c.347 others(29): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141915240 | ACACAGGA others(5): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 408 | 0.0025 | -12 | c.532 others(27): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110302567 | AATTTTTA others(5): Show |
A | intron_variant | MODIFIER | NA19030.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0069a0001c0001t0024g0093 | 2 | 228 | 0.0088 | -12 | c.463 others(29): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110309140 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG01243.hp1 HG01884.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(10): Show | 13 | 228 | 0.0570 | -12 | c.463 others(31): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110330571 | TAAGCCAT others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0009 | a0001c0001t0001g0222a0001c0005t0009g0220a0001c0005t0009g0221 | 3 | 228 | 0.0132 | -12 | c.109 others(31): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A3_chr17_3918873_3969437 | 3958709 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0002 | a0001c0001t0001g0172a0001c0011t0002g0171 | 2 | 332 | 0.0060 | -12 | c.119 others(29): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3966363 | GTTTTTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01515.hp2 HG01517.hp1 others(18): Show |
a0001 | a0001c0001a0001c0008a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0173a0001c0001t0001g0174a0001c0001t0001g0175others(17): Show | 21 | 332 | 0.0633 | -12 | c.-20 others(23): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1927 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89583801 | GGGGGGGG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01071.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0015 | a0001c0002t0001g0040a0001c0002t0001g0041a0001c0002t0001g0045others(9): Show | 12 | 332 | 0.0361 | -12 | c.*71 others(23): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 4247 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89628401 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(265): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0036others(263): Show | 268 | 332 | 0.8072 | -12 | c.929 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 6/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89658598 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 332 | 0.0030 | -12 | c.-22 others(31): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677963 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 332 | 0.0030 | -12 | c.-22 others(33): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677967 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0276 | 1 | 332 | 0.0030 | -12 | c.-22 others(33): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10321693 | AATCTATC others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01261.hp2 others(16): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(3): Show | a0001c0002t0002a0001c0004t0002a0001c0004t0024others(7): Show | a0001c0002t0002g0028a0001c0002t0002g0119a0001c0004t0002g0058others(16): Show | 19 | 290 | 0.0655 | -12 | c.*71 others(23): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2329 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10471364 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0079a0001c0001t0002g0027a0001c0001t0003g0135others(88): Show | 92 | 290 | 0.3172 | -12 | c.-31 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488463 | ATTCCTTC others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0002a0001c0008a0001c0012 | a0001c0002t0006a0001c0008t0002a0001c0008t0005others(1): Show | a0001c0002t0006g0005a0001c0008t0002g0242a0001c0008t0005g0123others(1): Show | 4 | 290 | 0.0138 | -12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488495 | CTTCCTTC others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02647.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0020others(8): Show | a0001c0001t0004g0187a0001c0001t0011g0051a0001c0001t0020g0056others(10): Show | 13 | 290 | 0.0448 | -12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153512760 | ACTCACAC others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00639.hp1 others(70): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(29): Show | a0001c0001t0001g0042a0001c0001t0001g0078a0001c0001t0001g0079others(65): Show | 73 | 267 | 0.2734 | -12 | c.-53 others(23): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 4881 | chrX | TogoVar |