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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP11C_chrX_139721348_139938053 | 139852452 | C | CGGGGGGG others(2): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 234 | 0.0043 | 9 | c.28- others(26): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139869795 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03486.hp2 HG06807.hp2 |
a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0006a0003c0004t0008g0007a0003c0004t0008g0008 | 3 | 234 | 0.0128 | 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 | a0001c0001t0004a0001c0001t0015a0001c0001t0030 | a0001c0001t0004g0019a0001c0001t0004g0024a0001c0001t0004g0025others(3): Show | 6 | 304 | 0.0197 | 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 | a0001c0001t0002a0001c0001t0012a0001c0001t0014others(3): Show | a0001c0001t0002g0217a0001c0001t0002g0238a0001c0001t0002g0247others(7): Show | 10 | 304 | 0.0329 | 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 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0224a0001c0001t0002g0225a0001c0001t0002g0227others(9): Show | 12 | 304 | 0.0395 | 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 | a0001c0006a0003c0002a0012c0021others(1): Show | a0001c0006t0001a0003c0002t0001a0003c0002t0002others(2): Show | a0001c0006t0001g0099a0001c0006t0001g0100a0003c0002t0001g0007others(6): Show | 10 | 284 | 0.0352 | 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 | a0001c0006t0002g0244a0001c0007t0001g0003a0001c0007t0001g0029others(19): Show | 24 | 284 | 0.0845 | 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 | a0001c0001t0001g0249a0001c0001t0001g0269a0001c0004t0001g0320others(13): Show | 18 | 418 | 0.0431 | 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 | a0001c0001t0001g0003a0001c0001t0001g0062a0001c0001t0001g0063others(45): Show | 59 | 412 | 0.1432 | 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 | a0001c0001t0002g0065a0001c0001t0002g0125a0001c0001t0002g0128others(6): Show | 9 | 412 | 0.0218 | 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 | a0001c0001t0013a0001c0001t0019a0001c0001t0081 | a0001c0001t0013g0003a0001c0001t0013g0020a0001c0001t0019g0012others(1): Show | 7 | 440 | 0.0159 | 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 | a0001c0001t0003g0302a0001c0001t0008g0303a0001c0004t0001g0304 | 3 | 408 | 0.0074 | 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 | a0001c0001t0025a0001c0002t0002a0001c0002t0004others(2): Show | a0001c0001t0025g0123a0001c0002t0002g0122a0001c0002t0004g0135others(2): Show | 5 | 332 | 0.0151 | 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 | a0001c0003t0001g0042a0001c0003t0001g0101a0001c0003t0001g0108others(17): Show | 20 | 332 | 0.0602 | 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 | a0001c0001t0002g0308a0001c0001t0002g0309a0001c0001t0006g0025others(3): Show | 6 | 318 | 0.0189 | 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 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0033others(10): Show | 90 | 404 | 0.2228 | 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 | a0001c0002t0001g0026a0001c0002t0001g0044a0001c0002t0001g0102others(1): Show | 7 | 418 | 0.0168 | 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(354): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(206): Show | 357 | 418 | 0.8541 | 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(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0059others(16): Show | 25 | 418 | 0.0598 | 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 | a0001c0001t0001g0125a0001c0001t0002g0012a0001c0001t0002g0016others(28): Show | 48 | 440 | 0.1091 | 9 | c.*45 others(20): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 4122 | chr14 | TogoVar | ||||||
ATP6AP1_chrX_154423677_154441516 | 154428787 | T | TGGCGGCG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG03098.hp1 | a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0049 | 1 | 302 | 0.0033 | 9 | c.108 others(16): Show |
p.Ala others(11): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 1/10 | 133/2054 | 117/1413 | 39/470 | INFO_REALIGN_3_PRIME | chrX | 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 | a0003c0031t0006g0344a0003c0033t0004g0364a0004c0041t0004g0006others(1): Show | 4 | 376 | 0.0106 | 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 | a0001c0001t0001g0040a0001c0001t0001g0051a0001c0001t0001g0097others(8): Show | 11 | 376 | 0.0293 | 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 | a0001c0010t0002g0035a0001c0023t0001g0336a0003c0004t0002g0354 | 3 | 376 | 0.0080 | 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 | a0001c0001t0001g0173a0001c0001t0001g0211a0001c0007t0003g0009others(5): Show | 8 | 376 | 0.0213 | 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 | a0001c0001t0005g0287a0001c0001t0005g0288a0001c0001t0005g0289others(1): Show | 4 | 360 | 0.0111 | 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 | a0001c0001t0002g0179a0001c0001t0002g0180a0001c0001t0002g0182 | 3 | 360 | 0.0083 | 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 | a0001c0001t0003g0119a0001c0001t0003g0124a0001c0001t0003g0127others(4): Show | 7 | 312 | 0.0224 | 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 | a0001c0001t0001g0039a0001c0002t0001g0126a0001c0002t0001g0134others(21): Show | 24 | 440 | 0.0546 | 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(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0031a0001c0001t0002g0079a0001c0001t0002g0141others(11): Show | 15 | 412 | 0.0364 | 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 | a0001c0001t0001g0079a0001c0001t0001g0144a0001c0001t0001g0153others(79): Show | 83 | 354 | 0.2345 | 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 | a0001c0001t0001g0002a0001c0002t0006g0182a0002c0003t0001g0060 | 3 | 370 | 0.0081 | 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 |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0005a0001c0002t0003others(1): Show | a0001c0001t0003g0013a0001c0001t0003g0025a0001c0001t0003g0026others(34): Show | 42 | 410 | 0.1024 | 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 | a0001c0001t0005g0110a0001c0001t0005g0111a0001c0001t0005g0112 | 3 | 420 | 0.0071 | 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 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(45): Show | 123 | 405 | 0.3037 | 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 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0004a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0004g0143a0001c0001t0005g0145a0001c0001t0005g0148others(2): Show | 5 | 233 | 0.0215 | 9 | c.-21 others(28): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77956787 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0198 | 1 | 233 | 0.0043 | 9 | c.-21 others(28): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77956798 | T | TCTTTCTT others(2): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0159 | 1 | 233 | 0.0043 | 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 | a0001c0001t0001g0053a0001c0001t0001g0059a0001c0001t0001g0062others(17): Show | 20 | 310 | 0.0645 | 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(121): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0055a0001c0001t0001g0094a0001c0001t0001g0112others(121): Show | 124 | 310 | 0.4000 | 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 | a0001c0002t0001g0032a0001c0007t0001g0081a0001c0007t0005g0021 | 3 | 122 | 0.0246 | 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 | a0001c0001t0004g0046a0001c0001t0013g0005a0001c0002t0001g0032others(3): Show | 6 | 122 | 0.0492 | 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 | a0001c0004t0002g0049a0001c0004t0002g0080a0001c0004t0003g0007others(11): Show | 14 | 122 | 0.1148 | 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 | a0001c0001t0066g0092a0001c0001t0074g0116a0001c0002t0001g0069others(9): Show | 12 | 122 | 0.0984 | 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 | a0001c0001t0008g0073a0001c0001t0024g0003a0001c0002t0016g0011others(2): Show | 5 | 122 | 0.0410 | 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 |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0061a0001c0001t0001g0076others(9): Show | 12 | 314 | 0.0382 | 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 | a0001c0001t0001g0097a0001c0001t0002g0276a0001c0001t0004g0019others(8): Show | 11 | 314 | 0.0350 | 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 |
a0000a0001a0002others(3): Show | a0000c0020a0000c0035a0000c0071others(10): Show | a0000c0020t0007a0000c0035t0007a0000c0071t0007others(10): Show | a0000c0020t0007g0050a0000c0035t0007g0165a0000c0071t0007g0170others(22): Show | 25 | 390 | 0.0641 | 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 | a0001c0001t0001g0144a0001c0001t0003g0105a0001c0001t0019g0035others(12): Show | 15 | 254 | 0.0591 | 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 | a0001c0001t0009g0004a0001c0001t0009g0009a0001c0001t0012g0080others(7): Show | 10 | 312 | 0.0321 | 9 | c.201 others(28): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 18/27 | chr20 | TogoVar |