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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP13A2_chr1_16980958_17016928 | 17001263 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(207): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(171): Show | 210 | 366 | 0.5738 | 7 | c.706 others(22): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 8/28 | chr1 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17003585 | C | CACACACA | intron_variant | MODIFIER | NA18956.hp2 NA18959.hp1 NA19054.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0248a0001c0001t0001g0251a0001c0003t0001g0141 | 3 | 366 | 0.0082 | 7 | c.557 others(22): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 6/28 | chr1 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17015989 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG00735.hp2 others(19): Show |
a0001a0009 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0002t0001g0001a0001c0002t0001g0007a0001c0002t0001g0010others(18): Show | 22 | 366 | 0.0601 | 7 | c.-42 others(18): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 4062 | chr1 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194410331 | A | AAAAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01978.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0047 | a0001c0001t0004g0017a0001c0001t0004g0021a0001c0001t0004g0023others(4): Show | 7 | 304 | 0.0230 | 7 | c.357 others(26): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194428231 | A | AAAAAAAG | intron_variant | MODIFIER | HG01074.hp2 HG02257.hp1 HG02572.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0002g0233a0001c0001t0002g0252a0001c0001t0005g0174others(11): Show | 14 | 304 | 0.0461 | 7 | c.294 others(24): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 28/33 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193437103 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp1 others(16): Show |
a0001a0002a0011 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0004t0018a0001c0006t0001others(5): Show | a0001c0001t0001g0195a0001c0004t0018g0105a0001c0006t0001g0192others(16): Show | 19 | 302 | 0.0629 | 7 | c.267 others(26): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 23/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193541248 | C | CAAAAAAA | intron_variant | MODIFIER | HG01071.hp1 NA18939.hp2 NA18940.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(4): Show | a0001c0001t0001g0276a0001c0004t0001g0269a0001c0004t0001g0272others(11): Show | 14 | 302 | 0.0464 | 7 | c.60+ others(24): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193347524 | C | CTTTTCTT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00639.hp2 others(98): Show |
a0001a0004a0005others(13): Show | a0001c0006a0004c0003a0005c0004others(16): Show | a0001c0006t0001a0004c0003t0001a0004c0003t0002others(22): Show | a0001c0006t0001g0005a0004c0003t0001g0023a0004c0003t0001g0025others(93): Show | 101 | 284 | 0.3556 | 7 | c.742 others(24): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160111638 | T | TTTATTTA | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0004g0138a0001c0001t0004g0239a0001c0001t0004g0241others(5): Show | 8 | 414 | 0.0193 | 7 | c.-42 others(18): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 4120 | chr1 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160119256 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01109.hp1 others(23): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0027others(16): Show | 26 | 414 | 0.0628 | 7 | c.13- others(22): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1B1_chr1_169101690_169137719 | 169122770 | T | TTTTTTTA | intron_variant | MODIFIER | HG00408.hp1 HG01243.hp1 HG01255.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0064a0001c0001t0001g0133others(17): Show | 20 | 412 | 0.0485 | 7 | c.227 others(24): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2/5 | chr1 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169135014 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG01099.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0037others(50): Show | 56 | 412 | 0.1359 | 7 | c.*34 others(18): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2296 | chr1 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141879811 | C | CTTTTTTT | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01099.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0394a0001c0001t0003g0012a0001c0001t0003g0015others(21): Show | 24 | 408 | 0.0588 | 7 | c.109 others(24): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141889746 | A | ATATATAT | intron_variant | MODIFIER | HG01070.hp2 HG01123.hp1 HG01258.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0010a0001c0001t0004g0336a0001c0001t0004g0344others(14): Show | 18 | 408 | 0.0441 | 7 | c.109 others(26): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141927015 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01070.hp2 HG01123.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0285a0001c0001t0004g0010a0001c0001t0004g0338others(20): Show | 23 | 408 | 0.0564 | 7 | c.*13 others(18): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 467 | chr3 | TogoVar | ||||||
ATP23_chr12_57936567_57964148 | 57955280 | G | GTTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01123.hp1 others(71): Show |
a0001a0005 | a0001c0003a0005c0008 | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(7): Show | a0001c0003t0001g0003a0001c0003t0001g0008a0001c0003t0001g0035others(24): Show | 74 | 393 | 0.1883 | 7 | c.538 others(24): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A1_chr16_28873488_28909466 | 28891589 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00642.hp1 others(30): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0098others(30): Show | 33 | 380 | 0.0868 | 7 | c.109 others(26): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2A3_chr17_3918873_3969437 | 3929874 | A | ACCCTTGG | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01891.hp2 others(19): Show |
a0002 | a0002c0006a0002c0015a0002c0016others(6): Show | a0002c0006t0001a0002c0006t0010a0002c0006t0026others(9): Show | a0002c0006t0001g0004a0002c0006t0001g0047a0002c0006t0001g0050others(17): Show | 22 | 332 | 0.0663 | 7 | c.274 others(24): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 18/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3939786 | T | TTAAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG01099.hp1 others(34): Show |
a0001 | a0001c0002a0001c0004a0001c0008others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(16): Show | a0001c0002t0001g0165a0001c0002t0002g0121a0001c0002t0002g0122others(33): Show | 37 | 332 | 0.1115 | 7 | c.210 others(26): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 14/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3940031 | C | CTTTTTTT | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02717.hp2 others(5): Show |
a0002 | a0002c0006a0002c0015a0002c0016others(1): Show | a0002c0006t0001a0002c0006t0010a0002c0015t0001others(3): Show | a0002c0006t0001g0004a0002c0006t0001g0054a0002c0006t0010g0048others(4): Show | 8 | 332 | 0.0241 | 7 | c.210 others(24): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 14/20 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89695058 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(160): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0036a0001c0001t0001g0037others(159): Show | 163 | 332 | 0.4910 | 7 | c.-22 others(28): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89695067 | A | AAAAAAAG | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01496.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0180a0001c0001t0001g0214a0001c0001t0001g0224others(20): Show | 23 | 332 | 0.0693 | 7 | c.-22 others(28): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10382197 | A | ATTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01243.hp2 others(17): Show |
a0001 | a0001c0001a0001c0004a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0158a0001c0001t0003g0044a0001c0001t0003g0135others(17): Show | 20 | 290 | 0.0690 | 7 | c.100 others(26): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 8/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10389042 | G | GCCTTGAT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01175.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0019a0001c0003t0004others(1): Show | a0001c0001t0004g0187a0001c0002t0019g0002a0001c0002t0019g0210others(2): Show | 6 | 290 | 0.0207 | 7 | c.782 others(22): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 5/22 | chr3 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTTT | intron_variant | MODIFIER | HG01169.hp1 HG01981.hp2 HG02257.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0002a0001c0001t0038a0001c0003t0057others(2): Show | a0001c0001t0002g0044a0001c0001t0002g0232a0001c0001t0002g0295others(5): Show | 8 | 318 | 0.0252 | 7 | c.193 others(24): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203745269 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(152): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0016others(151): Show | 155 | 318 | 0.4874 | 7 | c.*54 others(18): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1189 | chr1 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130970407 | C | CACACACA | intron_variant | MODIFIER | NA18991.hp1 NA19006.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0247a0001c0001t0001g0265 | 3 | 382 | 0.0079 | 7 | c.141 others(26): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 17/27 | chr3 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46096500 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(50): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0014a0001c0001t0024others(19): Show | a0001c0001t0003g0003a0001c0001t0003g0047a0001c0001t0003g0232others(33): Show | 53 | 390 | 0.1359 | 7 | c.61- others(22): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46096982 | C | CAAAAAAA | intron_variant | MODIFIER | HG01496.hp2 HG02647.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0104a0001c0001t0117 | a0001c0001t0015g0012a0001c0001t0015g0218a0001c0001t0104g0216others(1): Show | 7 | 390 | 0.0180 | 7 | c.60+ others(22): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
ATP5F1D_chr19_1236751_1249825 | 1246541 | A | ACGAGAGG | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00642.hp2 others(112): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(12): Show | 115 | 412 | 0.2791 | 7 | c.*21 others(18): Show |
ATP5F1D | ENSG00000099624.8 | transcript | ENST00000215375.7 | protein_coding | 1717 | chr19 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG02129.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0121a0001c0001t0001g0129others(8): Show | 11 | 418 | 0.0263 | 7 | c.39+ others(20): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 669113 | C | CTATTTAT | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 3 | 394 | 0.0076 | 7 | c.*33 others(18): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3322 | chr4 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111465781 | C | CAACATTG | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0012a0001c0001t0005g0043a0001c0001t0005g0114others(2): Show | 10 | 434 | 0.0230 | 7 | c.*47 others(18): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 3009 | chr1 | TogoVar | ||||||
ATP5PF_chr21_25719500_25739904 | 25730736 | C | CAAAAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG01358.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0093others(7): Show | 14 | 416 | 0.0337 | 7 | c.-7- others(20): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
ATP5PO_chr21_33898453_33920804 | 33905918 | G | GAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG02145.hp1 others(8): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0001a0001c0002t0001a0005c0008t0001 | a0001c0001t0001g0053a0001c0001t0001g0113a0001c0001t0001g0115others(7): Show | 11 | 436 | 0.0252 | 7 | c.441 others(24): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 5/6 | chr21 | TogoVar | ||||||
ATP5PO_chr21_33898453_33920804 | 33911662 | G | GTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00738.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0024a0001c0001t0001g0063others(2): Show | 27 | 436 | 0.0619 | 7 | c.198 others(22): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 3/6 | chr21 | TogoVar | ||||||
ATP6AP1_chrX_154423677_154441516 | 154426047 | C | CTGCCTCA | upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 302 | 0.0033 | 7 | c.-26 others(18): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 2629 | chrX | TogoVar | ||||||
ATP6AP2_chrX_40575970_40611848 | 40602913 | C | CTTTTTTT | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0192 | 1 | 299 | 0.0033 | 7 | c.858 others(24): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP6AP2_chrX_40575970_40611848 | 40602923 | T | TTTTTTTG | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 299 | 0.0033 | 7 | c.858 others(24): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP6V0A2_chr12_123707353_123766755 | 123765561 | A | ATCTATCT | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02258.hp1 others(12): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0002t0002others(6): Show | a0001c0001t0005g0038a0001c0001t0005g0039a0001c0001t0005g0045others(12): Show | 15 | 222 | 0.0676 | 7 | c.*75 others(18): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3807 | chr12 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138730931 | C | CTTCTTTT | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01257.hp2 others(37): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0004others(10): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(13): Show | a0001c0001t0001g0120a0001c0001t0001g0124a0001c0001t0001g0127others(37): Show | 40 | 376 | 0.1064 | 7 | c.190 others(26): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138758739 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0030others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0028a0001c0001t0001g0075a0001c0001t0001g0157others(47): Show | 50 | 376 | 0.1330 | 7 | c.639 others(24): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 8/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138759052 | A | ATTTTTTT | intron_variant | MODIFIER | HG01943.hp2 HG02896.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0010a0001c0020others(2): Show | a0001c0001t0001a0001c0010t0002a0001c0020t0001others(3): Show | a0001c0001t0001g0363a0001c0010t0002g0198a0001c0010t0002g0362others(4): Show | 7 | 376 | 0.0186 | 7 | c.639 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 8/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138777631 | A | ATACACAC | intron_variant | MODIFIER | HG01943.hp2 HG02145.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0357a0001c0001t0001g0363a0001c0001t0004g0352others(3): Show | 6 | 376 | 0.0160 | 7 | c.-17 others(24): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86115358 | A | ATTTTTTT | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229a0001c0001t0001g0230a0001c0001t0001g0322others(6): Show | 9 | 360 | 0.0250 | 7 | c.302 others(24): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70964114 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00621.hp2 others(71): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0005a0002c0003others(8): Show | a0001c0002t0001a0001c0005t0001a0002c0003t0001others(8): Show | a0001c0002t0001g0041a0001c0002t0001g0054a0001c0002t0001g0113others(68): Show | 74 | 440 | 0.1682 | 7 | c.114 others(24): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103047464 | A | ACACACAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0026others(1): Show | a0001c0001t0002g0003a0001c0001t0002g0008a0001c0001t0002g0014others(32): Show | 55 | 412 | 0.1335 | 7 | c.201 others(24): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10788065 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(102): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0011a0001c0006t0005others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0004others(101): Show | 105 | 354 | 0.2966 | 7 | c.*48 others(18): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2956 | chr2 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17604526 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00639.hp2 others(76): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0045a0001c0001t0001g0150a0001c0001t0001g0191others(72): Show | 79 | 370 | 0.2135 | 7 | c.277 others(24): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 4/8 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631707 | T | TATATATA | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02165.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0001t0005g0050 | 3 | 370 | 0.0081 | 7 | c.-30 others(18): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2959 | chr22 | TogoVar |