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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP11C_chrX_139721348_139938053 | 139869795 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03486.hp2 HG06807.hp2 |
a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0005 a0003c0004t0008g0006 a0003c0004t0008g0007 |
3 | 114 | 0.0263 | 9 | c.28- others(26): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194410331 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0024 | a0001c0001t0004g0020 a0001c0001t0004g0025 a0001c0001t0004g0026 others(3): Show |
6 | 280 | 0.0214 | 9 | c.357 others(28): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194421944 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01261.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0028others(2): Show | a0001c0001t0001g0035 a0001c0001t0001g0218 a0001c0001t0001g0239 others(7): Show |
10 | 144 | 0.0694 | 9 | c.331 others(28): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194428231 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02647.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 others(9): Show |
12 | 166 | 0.0723 | 9 | c.294 others(26): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 28/33 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193284007 | G | GATTATTA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG02258.hp2 others(7): Show |
a0001a0003a0012others(1): Show | a0001c0006a0003c0002a0012c0019others(1): Show | a0001c0006t0001a0003c0002t0001a0003c0002t0002others(2): Show | a0001c0006t0001g0098 a0001c0006t0001g0099 a0003c0002t0001g0007 others(6): Show |
10 | 54 | 0.1852 | 9 | c.322 others(26): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 27/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193347524 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01358.hp1 others(21): Show |
a0001a0003 | a0001c0006a0001c0007a0001c0015others(2): Show | a0001c0006t0002a0001c0007t0001a0001c0007t0002others(4): Show | a0001c0006t0002g0243 a0001c0007t0001g0003 a0001c0007t0001g0030 others(19): Show |
24 | 109 | 0.2202 | 9 | c.742 others(26): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
ATP1A4_chr1_160146603_160191980 | 160186086 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01891.hp2 HG02615.hp1 others(15): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(8): Show | a0001c0001t0001g0249 a0001c0001t0001g0269 a0001c0004t0001g0320 others(13): Show |
18 | 113 | 0.1593 | 9 | c.297 others(26): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169106619 | C | CCCGCCGC others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0073 a0001c0001t0001g0074 others(45): Show |
59 | 115 | 0.5130 | 9 | c.-21 others(18): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 70 | chr1 | TogoVar | |||||||
ATP1B1_chr1_169101690_169137719 | 169122705 | C | CCCCATAA others(2): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02083.hp1 HG02132.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 a0001c0001t0002g0129 a0001c0001t0002g0152 others(6): Show |
9 | 410 | 0.0220 | 9 | c.227 others(26): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1B2_chr17_7645926_7662770 | 7660810 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 HG01496.hp2 HG01515.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0018a0001c0001t0074 | a0001c0001t0011g0003 a0001c0001t0011g0021 a0001c0001t0018g0012 others(1): Show |
7 | 54 | 0.1296 | 9 | c.*49 others(20): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 3041 | chr17 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141889750 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0008a0001c0004t0001 | a0001c0001t0003g0300 a0001c0001t0008g0301 a0001c0004t0001g0302 |
3 | 281 | 0.0107 | 9 | c.109 others(28): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3965847 | A | ATATTATT others(2): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG02486.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0024a0001c0002t0002a0001c0002t0004others(2): Show | a0001c0001t0024g0132 a0001c0002t0002g0130 a0001c0002t0004g0138 others(2): Show |
5 | 303 | 0.0165 | 9 | c.-15 others(20): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1411 | chr17 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3965849 | T | TTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01123.hp1 HG02486.hp1 others(17): Show |
a0001a0002a0003 | a0001c0003a0001c0004a0001c0009others(4): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(10): Show | a0001c0003t0001g0047 a0001c0003t0001g0105 a0001c0003t0001g0112 others(16): Show |
20 | 228 | 0.0877 | 9 | c.-15 others(20): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1413 | chr17 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203719225 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02109.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0003t0021others(1): Show | a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0006g0032 others(3): Show |
6 | 282 | 0.0213 | 9 | c.240 others(28): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP5F1E_chr20_59020475_59037335 | 59036074 | T | TGGGGGAG others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp2 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0033 others(10): Show |
90 | 399 | 0.2256 | 9 | c.-38 others(20): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 3740 | chr20 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53660854 | T | TCAACAAC others(2): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG03195.hp1 NA18522.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 a0001c0002t0001g0038 a0001c0002t0001g0085 others(1): Show |
7 | 75 | 0.0933 | 9 | c.*44 others(20): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4315 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53670990 | A | AAGTCAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(353): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(162): Show |
356 | 416 | 0.8558 | 9 | c.40- others(24): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00735.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0028 others(9): Show |
24 | 91 | 0.2637 | 9 | c.39+ others(22): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103908165 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(45): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0124 a0001c0001t0002g0012 a0001c0001t0002g0016 others(28): Show |
48 | 271 | 0.1771 | 9 | c.*45 others(20): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 4122 | chr14 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138730931 | C | CTTCTTCT others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03130.hp1 HG03453.hp1 others(1): Show |
a0003a0004a0009 | a0003c0031a0003c0033a0004c0041others(1): Show | a0003c0031t0006a0003c0033t0004a0004c0041t0004others(1): Show | a0003c0031t0006g0344 a0003c0033t0004g0364 a0004c0041t0004g0001 others(1): Show |
4 | 59 | 0.0678 | 9 | c.190 others(28): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138737113 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01074.hp2 others(8): Show |
a0001a0002a0015 | a0001c0001a0001c0005a0001c0014others(4): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0003others(5): Show | a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0095 others(8): Show |
11 | 174 | 0.0632 | 9 | c.157 others(28): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745960 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02886.hp1 HG02976.hp1 |
a0001a0003 | a0001c0010a0001c0023a0003c0004 | a0001c0010t0002a0001c0023t0001a0003c0004t0002 | a0001c0010t0002g0035 a0001c0023t0001g0336 a0003c0004t0002g0354 |
3 | 149 | 0.0201 | 9 | c.132 others(26): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138758739 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01175.hp1 HG02056.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0007t0003a0001c0008t0001others(2): Show | a0001c0001t0001g0169 a0001c0001t0001g0232 a0001c0007t0003g0004 others(5): Show |
8 | 21 | 0.3810 | 9 | c.639 others(26): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 8/21 | chr7 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86121578 | A | AAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03516.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 a0001c0001t0005g0283 a0001c0001t0005g0284 |
4 | 326 | 0.0123 | 9 | c.302 others(26): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86121604 | G | GGAGGAGG others(2): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02129.hp2 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 |
3 | 67 | 0.0448 | 9 | c.302 others(26): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113772933 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02148.hp1 HG02738.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0022 | a0001c0001t0003g0119 a0001c0001t0003g0124 a0001c0001t0003g0127 others(4): Show |
7 | 153 | 0.0458 | 9 | c.-13 others(26): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70964114 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01069.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(5): Show | a0001c0001t0001g0056 a0001c0002t0001g0120 a0001c0002t0001g0127 others(21): Show |
24 | 67 | 0.3582 | 9 | c.114 others(26): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C1_chr8_103016083_103078051 | 103047464 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01978.hp1 HG02040.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0077 a0001c0001t0002g0125 a0001c0001t0002g0130 others(11): Show |
14 | 261 | 0.0536 | 9 | c.201 others(26): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | chr8 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10729172 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(80): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0015a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(16): Show | a0001c0001t0001g0078 a0001c0001t0001g0144 a0001c0001t0001g0153 others(79): Show |
83 | 327 | 0.2538 | 9 | c.197 others(26): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631707 | T | TATATATA others(2): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 NA18747.hp2 NA18954.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0006a0002c0003t0001 | a0001c0001t0001g0002 a0001c0002t0006g0181 a0002c0003t0001g0061 |
3 | 346 | 0.0087 | 9 | c.-30 others(20): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2959 | chr22 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46540613 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00741.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0005a0001c0002t0003others(1): Show | a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0033 others(29): Show |
42 | 72 | 0.5833 | 9 | c.-31 others(26): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
ATP6V1G1_chr9_114582769_114603879 | 114596973 | T | TATATAGC others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0112 |
3 | 418 | 0.0072 | 9 | c.184 others(24): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ATP6V1G3_chr1_198518222_198545680 | 198538891 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp2 others(120): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(45): Show |
123 | 308 | 0.3994 | 9 | c.82+ others(24): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 77956726 | C | CTCTTTCT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18948.hp1 NA18949.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0004a0001c0001t0005a0003c0004t0009 | a0001c0001t0004g0144 a0001c0001t0005g0145 a0001c0001t0005g0147 others(2): Show |
5 | 49 | 0.1020 | 9 | c.-21 others(28): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42576475 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01952.hp1 HG02293.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 others(17): Show |
20 | 81 | 0.2469 | 9 | c.112 others(26): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 12/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42647107 | T | TGCCACAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(120): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0055 a0001c0001t0001g0090 a0001c0001t0001g0112 others(120): Show |
123 | 308 | 0.3994 | 9 | c.49+ others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25461852 | A | AAGAAGGA others(2): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03130.hp2 NA19091.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001a0001c0007t0005 | a0001c0002t0001g0032 a0001c0007t0001g0081 a0001c0007t0005g0021 |
3 | 54 | 0.0556 | 9 | c.77- others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465711 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG02698.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0004a0001c0001t0013a0001c0002t0001others(1): Show | a0001c0001t0004g0046 a0001c0001t0013g0006 a0001c0002t0001g0032 others(3): Show |
6 | 101 | 0.0594 | 9 | c.77- others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25531150 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(11): Show |
a0001 | a0001c0004a0001c0006a0001c0010others(1): Show | a0001c0004t0002a0001c0004t0003a0001c0004t0004others(10): Show | a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0003g0007 others(11): Show |
14 | 120 | 0.1167 | 9 | c.420 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25720167 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02258.hp1 HG02258.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0066a0001c0001t0074a0001c0002t0001others(9): Show | a0001c0001t0066g0092 a0001c0001t0074g0116 a0001c0002t0001g0069 others(9): Show |
12 | 68 | 0.1765 | 9 | c.238 others(30): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25762268 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02698.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0008a0001c0001t0024a0001c0002t0016others(2): Show | a0001c0001t0008g0073 a0001c0001t0024g0004 a0001c0002t0016g0011 others(2): Show |
5 | 11 | 0.4545 | 9 | c.238 others(28): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57752207 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01256.hp2 HG01258.hp1 others(9): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0076 others(9): Show |
12 | 234 | 0.0513 | 9 | c.-25 others(28): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57782803 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01515.hp1 HG02055.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0097 a0001c0001t0002g0276 a0001c0001t0004g0019 others(8): Show |
11 | 13 | 0.8462 | 9 | c.-26 others(28): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1781597 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00741.hp1 others(22): Show |
a0001a0002a0003others(5): Show | a0001c0006a0001c0013a0001c0024others(10): Show | a0001c0006t0002a0001c0013t0002a0001c0024t0002others(10): Show | a0001c0006t0002g0050 a0001c0006t0002g0066 a0001c0006t0002g0118 others(22): Show |
25 | 129 | 0.1938 | 9 | c.*14 others(20): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 477 | chr19 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50029238 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG01255.hp2 others(12): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(8): Show | a0001c0001t0001g0143 a0001c0001t0003g0103 a0001c0001t0019g0026 others(12): Show |
15 | 57 | 0.2632 | 9 | c.362 others(26): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51623801 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02895.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0012a0001c0001t0013others(3): Show | a0001c0001t0009g0004 a0001c0001t0009g0009 a0001c0001t0012g0081 others(7): Show |
10 | 157 | 0.0637 | 9 | c.201 others(28): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 18/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51634855 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 others(74): Show |
77 | 161 | 0.4783 | 9 | c.166 others(28): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51641831 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(129): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 others(129): Show |
132 | 232 | 0.5690 | 9 | c.150 others(28): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51682577 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00544.hp2 others(23): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0036 a0001c0001t0001g0274 a0001c0001t0001g0285 others(23): Show |
26 | 104 | 0.2500 | 9 | c.800 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51687774 | A | ATGAATGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0012a0001c0001t0013a0001c0001t0061others(12): Show | a0001c0001t0012g0081 a0001c0001t0012g0134 a0001c0001t0012g0161 others(30): Show |
33 | 271 | 0.1218 | 9 | c.799 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar |