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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V0E1_chr5_172978771_173040445 | 172996574 | A | AAAAAAAC others(4): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 286 | 0.0035 | 11 | c.152 others(28): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70964114 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02280.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0006others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0007t0001others(4): Show | a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0054 others(8): Show |
11 | 54 | 0.2037 | 11 | c.114 others(28): 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(4): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01496.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027 | a0001c0001t0002g0164 a0001c0001t0002g0177 a0001c0001t0027g0129 |
3 | 250 | 0.0120 | 11 | c.201 others(28): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | chr8 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10729172 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02622.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0004others(2): Show | a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 others(8): Show |
11 | 255 | 0.0431 | 11 | c.197 others(28): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 185 | 0.0054 | 11 | c.-30 others(22): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG02818.hp2 NA18951.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0069 a0001c0001t0001g0115 others(2): Show |
5 | 189 | 0.0265 | 11 | c.-30 others(22): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | NA18975.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0162 |
2 | 186 | 0.0108 | 11 | c.-30 others(22): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATTT others(4): Show |
upstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 185 | 0.0054 | 11 | c.-30 others(22): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 185 | 0.0054 | 11 | c.-30 others(22): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631707 | T | TATATATA others(4): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 344 | 0.0029 | 11 | c.-30 others(22): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2959 | chr22 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46539085 | C | CCATTTAA others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(294): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(190): Show |
297 | 408 | 0.7279 | 11 | c.-31 others(30): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46540613 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0123 a0001c0001t0005g0124 |
2 | 32 | 0.0625 | 11 | c.-31 others(28): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
ATP6V1G1_chr9_114582769_114603879 | 114588540 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 418 | 0.0024 | 11 | c.82+ others(24): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
ATP6V1G3_chr1_198518222_198545680 | 198538891 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18906.hp1 NA19077.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0002c0002t0001g0088 |
3 | 188 | 0.0160 | 11 | c.82+ others(26): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53810406 | G | GATTATTT others(4): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | 284 | 0.0070 | 11 | c.579 others(26): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 77956726 | C | CCTTCTTT others(4): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0172 | 1 | 45 | 0.0222 | 11 | c.-21 others(30): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78037980 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01069.hp1 others(24): Show |
a0002a0004 | a0002c0002a0004c0003 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(2): Show | a0002c0002t0002g0038 a0002c0002t0002g0052 a0002c0002t0002g0053 others(23): Show |
27 | 102 | 0.2647 | 11 | c.351 others(28): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51953851 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 |
a0003 | a0003c0015a0003c0034 | a0003c0015t0005a0003c0034t0005 | a0003c0015t0005g0273 a0003c0034t0005g0279 |
2 | 137 | 0.0146 | 11 | c.244 others(30): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 9/20 | chr13 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0164 |
2 | 16 | 0.1250 | 11 | c.295 others(28): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42446098 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02257.hp1 HG03579.hp1 |
a0002 | a0002c0005a0002c0007 | a0002c0005t0004a0002c0005t0031a0002c0007t0001 | a0002c0005t0004g0113 a0002c0005t0031g0307 a0002c0007t0001g0131 |
3 | 305 | 0.0098 | 11 | c.295 others(28): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42448401 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp1 others(64): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(64): Show |
67 | 80 | 0.8375 | 11 | c.289 others(30): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42576475 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00735.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0090 others(9): Show |
12 | 73 | 0.1644 | 11 | c.112 others(28): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 12/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25465663 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 107 | 0.0093 | 11 | c.77- others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465737 | T | TTCTTCCC others(4): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0010 | a0001c0010t0056 | a0001c0010t0056g0002 | 1 | 62 | 0.0161 | 11 | c.77- others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25531137 | G | GTATATAT others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00738.hp2 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(58): Show | a0001c0001t0001g0036 a0001c0001t0004g0040 a0001c0001t0004g0046 others(62): Show |
65 | 101 | 0.6436 | 11 | c.420 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25531140 | T | TATATATG others(4): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0111 | 1 | 120 | 0.0083 | 11 | c.420 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25531148 | T | TTATATAT others(4): Show |
intron_variant | MODIFIER | HG03486.hp1 NA21309.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0052a0001c0005t0044 | a0001c0003t0052g0113 a0001c0005t0044g0018 |
2 | 119 | 0.0168 | 11 | c.420 others(26): 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(4): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02015.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0059a0001c0003t0001a0001c0003t0007others(7): Show | a0001c0001t0059g0022 a0001c0003t0001g0106 a0001c0003t0007g0109 others(7): Show |
10 | 66 | 0.1515 | 11 | c.238 others(32): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25744325 | A | ACCCCCCC others(4): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03225.hp1 |
a0001 | a0001c0003a0001c0014 | a0001c0003t0073a0001c0014t0034 | a0001c0003t0073g0001 a0001c0014t0034g0064 |
2 | 112 | 0.0179 | 11 | c.238 others(32): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25937362 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02055.hp2 HG02886.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0025others(5): Show | a0001c0001t0003g0093 a0001c0001t0009g0065 a0001c0001t0025g0009 others(5): Show |
8 | 24 | 0.3333 | 11 | c.318 others(32): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25937362 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0059a0001c0009t0037 | a0001c0001t0059g0022 a0001c0009t0037g0008 |
2 | 18 | 0.1111 | 11 | c.318 others(32): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57782803 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0087 a0001c0001t0007g0280 |
2 | 4 | 0.5000 | 11 | c.-26 others(30): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B2_chr1_154320525_154356304 | 154322489 | C | CTTCTTCT others(4): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00738.hp2 others(48): Show |
a0001 | a0001c0003a0001c0004a0001c0017 | a0001c0003t0009a0001c0004t0004a0001c0004t0005others(8): Show | a0001c0003t0009g0023 a0001c0004t0004g0012 a0001c0004t0004g0130 others(23): Show |
51 | 159 | 0.3208 | 11 | c.-32 others(22): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 3035 | chr1 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1781597 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0356 | 1 | 105 | 0.0095 | 11 | c.*14 others(22): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 477 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1817141 | T | TGGGGCCA others(4): Show |
upstream_gene_variant | MODIFIER | NA19055.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0249 | 1 | 388 | 0.0026 | 11 | c.-51 others(22): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 4866 | chr19 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50029238 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01099.hp1 HG02056.hp1 others(10): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0138 others(10): Show |
13 | 55 | 0.2364 | 11 | c.362 others(28): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50085919 | G | GATATATA others(4): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02717.hp1 |
a0009a0014 | a0009c0009a0014c0013 | a0009c0009t0001a0009c0009t0024a0014c0013t0010 | a0009c0009t0001g0185 a0009c0009t0024g0186 a0014c0013t0010g0224 |
3 | 252 | 0.0119 | 11 | c.29- others(28): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50085945 | G | GATATATA others(4): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02717.hp1 |
a0009a0014 | a0009c0009a0014c0013 | a0009c0009t0001a0009c0009t0024a0014c0013t0010 | a0009c0009t0001g0185 a0009c0009t0024g0186 a0014c0013t0010g0224 |
3 | 249 | 0.0120 | 11 | c.29- others(28): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50119752 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 80 | 0.0125 | 11 | c.-68 others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 520 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51634855 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01070.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0174 a0001c0001t0001g0189 a0001c0001t0001g0193 others(4): Show |
7 | 91 | 0.0769 | 11 | c.166 others(30): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51641831 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 a0001c0001t0002g0283 |
2 | 102 | 0.0196 | 11 | c.150 others(30): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51658888 | C | CGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02723.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0003a0001c0004a0001c0015 | a0001c0003t0007a0001c0004t0002a0001c0004t0017others(2): Show | a0001c0003t0007g0223 a0001c0004t0002g0305 a0001c0004t0017g0173 others(2): Show |
5 | 53 | 0.0943 | 11 | c.129 others(30): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51658888 | C | CGGTGGGG others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0052 | a0001c0001t0001g0189 a0001c0001t0052g0260 |
2 | 50 | 0.0400 | 11 | c.129 others(30): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51682577 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01168.hp1 HG04228.hp2 NA19005.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0020a0001c0001t0033others(1): Show | a0001c0001t0003g0012 a0001c0001t0003g0070 a0001c0001t0020g0103 others(2): Show |
5 | 83 | 0.0602 | 11 | c.800 others(28): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51765642 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0057 | a0001c0003t0057g0087 | 1 | 195 | 0.0051 | 11 | c.68+ others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51766646 | C | CGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0306 | 1 | 310 | 0.0032 | 11 | c.68+ others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071049 | C | CTTTTTTC others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp2 others(16): Show |
a0001a0003a0013 | a0001c0006a0001c0010a0003c0007others(2): Show | a0001c0006t0003a0001c0006t0004a0001c0006t0007others(5): Show | a0001c0006t0003g0282 a0001c0006t0004g0291 a0001c0006t0004g0292 others(16): Show |
19 | 168 | 0.1131 | 11 | c.119 others(28): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79086435 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0184 | 1 | 2 | 0.5000 | 11 | c.120 others(30): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79137440 | G | GATAGGCC others(4): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0228 | 1 | 296 | 0.0034 | 11 | c.668 others(28): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79144868 | A | ACATAGTG others(4): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0142 | 1 | 296 | 0.0034 | 11 | c.726 others(28): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | chr18 | TogoVar |