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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0004g0186 a0001c0002t0019g0003 a0001c0002t0019g0206 others(2): Show |
6 | 288 | 0.0208 | 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 | a0001c0001t0002g0044 a0001c0001t0002g0194 a0001c0001t0002g0280 others(5): Show |
8 | 40 | 0.2000 | 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(151): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 others(150): Show |
154 | 229 | 0.6725 | 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 | a0001c0001t0001g0132 a0001c0001t0001g0254 a0001c0001t0001g0272 |
3 | 375 | 0.0080 | 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 | a0001c0001t0004a0001c0001t0013a0001c0001t0024others(19): Show | a0001c0001t0004g0004 a0001c0001t0004g0024 a0001c0001t0004g0206 others(29): Show |
53 | 317 | 0.1672 | 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 | a0001c0001t0014a0001c0001t0102a0001c0001t0113 | a0001c0001t0014g0017 a0001c0001t0014g0193 a0001c0001t0102g0191 others(1): Show |
7 | 170 | 0.0412 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(11): Show |
115 | 410 | 0.2805 | 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 | a0001c0001t0001g0029 a0001c0001t0001g0066 a0001c0001t0001g0102 others(6): Show |
11 | 78 | 0.1410 | 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 | 385 | 0.0078 | 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 | a0001c0001t0005g0012 a0001c0001t0005g0041 a0001c0001t0005g0112 others(2): Show |
10 | 432 | 0.0231 | 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 | a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0093 others(7): Show |
14 | 34 | 0.4118 | 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 |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0002t0001a0003c0008t0001 | a0001c0001t0001g0053 a0001c0001t0001g0113 a0001c0001t0001g0115 others(7): Show |
11 | 153 | 0.0719 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0063 others(2): Show |
27 | 122 | 0.2213 | 7 | c.198 others(22): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 3/6 | chr21 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123765561 | A | ATCTATCT | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02258.hp1 others(12): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0002t0002others(6): Show | a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0045 others(12): Show |
15 | 183 | 0.0820 | 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 | a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0127 others(37): Show |
40 | 95 | 0.4211 | 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 | a0001c0001t0001g0028 a0001c0001t0001g0075 a0001c0001t0001g0154 others(47): Show |
50 | 63 | 0.7937 | 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 | a0001c0001t0001g0362 a0001c0010t0002g0198 a0001c0010t0002g0363 others(4): Show |
7 | 89 | 0.0787 | 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 | a0001c0001t0001g0357 a0001c0001t0001g0362 a0001c0001t0004g0352 others(3): Show |
6 | 298 | 0.0201 | 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 | a0001c0001t0001g0013 a0001c0001t0001g0230 a0001c0001t0001g0231 others(5): Show |
9 | 62 | 0.1452 | 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 |
a0001a0002a0003 | a0001c0002a0001c0005a0002c0003others(8): Show | a0001c0002t0001a0001c0005t0001a0002c0003t0001others(8): Show | a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0023 others(65): Show |
74 | 117 | 0.6325 | 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 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0014 others(31): Show |
55 | 302 | 0.1821 | 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 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(101): Show |
105 | 308 | 0.3409 | 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 | a0001c0001a0001c0002a0003c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0046 a0001c0001t0001g0148 a0001c0001t0001g0190 others(71): Show |
79 | 320 | 0.2469 | 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 | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0005g0051 |
3 | 346 | 0.0087 | 7 | c.-30 others(18): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2959 | chr22 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46514295 | T | TAAAAAGA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(162): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0013 others(105): Show |
165 | 408 | 0.4044 | 7 | c.-10 others(26): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46540613 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0003 | a0001c0001t0003g0092 a0001c0001t0003g0165 a0001c0001t0005g0037 others(5): Show |
9 | 39 | 0.2308 | 7 | c.-31 others(24): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
ATP6V1FNB_chr7_128861330_128877047 | 128868458 | T | TGATGGCA | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(93): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0011 | a0001c0001t0002a0001c0001t0031a0001c0001t0032others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0015 others(7): Show |
96 | 440 | 0.2182 | 7 | c.422 others(22): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ATP6V1F_chr7_128857856_128870847 | 128868458 | T | TGATGGCA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(94): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0001a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(10): Show |
97 | 440 | 0.2205 | 7 | c.*28 others(18): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 2612 | chr7 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42435461 | A | AAAAAAAC | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG04228.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0238 others(8): Show |
11 | 146 | 0.0753 | 7 | c.312 others(26): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42507729 | C | CAAAAAAA | intron_variant | MODIFIER | HG01192.hp2 HG01261.hp1 HG01358.hp1 others(16): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0005g0298 a0001c0001t0005g0301 a0001c0001t0006g0210 others(16): Show |
19 | 69 | 0.2754 | 7 | c.194 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTATCT | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0002t0007 | a0001c0001t0001g0047 a0001c0001t0018g0041 a0001c0002t0007g0092 others(1): Show |
4 | 172 | 0.0233 | 7 | c.141 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42608363 | A | ATTTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG01978.hp1 HG02622.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0010 | a0001c0001t0003a0001c0001t0012a0001c0001t0021others(3): Show | a0001c0001t0003g0201 a0001c0001t0012g0308 a0001c0001t0021g0187 others(3): Show |
6 | 265 | 0.0226 | 7 | c.409 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 5/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25393133 | C | CTTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG02258.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0002a0001c0011a0001c0015 | a0001c0002t0016a0001c0002t0023a0001c0002t0028others(2): Show | a0001c0002t0016g0011 a0001c0002t0023g0013 a0001c0002t0028g0014 others(2): Show |
5 | 77 | 0.0649 | 7 | c.76+ others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25399397 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG00741.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0036 a0001c0001t0003g0093 a0001c0001t0004g0040 others(41): Show |
44 | 53 | 0.8302 | 7 | c.76+ others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25531236 | A | ATATATGT | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG03130.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0005a0001c0001t0016a0001c0001t0025others(5): Show | a0001c0001t0005g0102 a0001c0001t0016g0104 a0001c0001t0025g0009 others(5): Show |
8 | 120 | 0.0667 | 7 | c.420 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25531273 | T | TATATATG | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp2 HG02896.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0009a0001c0001t0017a0001c0001t0026others(6): Show | a0001c0001t0009g0065 a0001c0001t0017g0051 a0001c0001t0026g0089 others(6): Show |
9 | 120 | 0.0750 | 7 | c.420 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25717418 | T | TAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02015.hp1 HG02055.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0001t0019a0001c0001t0026others(11): Show | a0001c0001t0008g0073 a0001c0001t0019g0005 a0001c0001t0026g0089 others(11): Show |
14 | 72 | 0.1944 | 7 | c.238 others(28): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25762268 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0015others(16): Show | a0001c0001t0004g0040 a0001c0001t0011g0061 a0001c0001t0011g0062 others(18): Show |
21 | 27 | 0.7778 | 7 | c.238 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57668554 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
a0001a0006a0009 | a0001c0001a0001c0006a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 others(150): Show |
153 | 154 | 0.9935 | 7 | c.209 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 18/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57672914 | A | AAAACATG | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0050 | a0001c0001t0002g0202 a0001c0001t0004g0105 a0001c0001t0050g0305 |
3 | 312 | 0.0096 | 7 | c.182 others(26): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57729549 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp2 others(78): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0066 others(78): Show |
81 | 82 | 0.9878 | 7 | c.181 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57782803 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00642.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0015 others(24): Show |
27 | 29 | 0.9310 | 7 | c.-26 others(26): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1780973 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(33): Show |
a0001a0002a0003others(12): Show | a0001c0006a0001c0013a0001c0030others(21): Show | a0001c0006t0002a0001c0013t0002a0001c0030t0002others(22): Show | a0001c0006t0002g0037 a0001c0006t0002g0128 a0001c0006t0002g0148 others(32): Show |
36 | 120 | 0.3000 | 7 | c.*20 others(18): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 1101 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1781597 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01070.hp2 HG02486.hp2 HG02738.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0007others(2): Show | a0001c0001t0006a0001c0006t0002a0001c0006t0004others(3): Show | a0001c0001t0006g0369 a0001c0001t0006g0370 a0001c0006t0002g0049 others(8): Show |
11 | 115 | 0.0957 | 7 | c.*14 others(18): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 477 | chr19 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50029238 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0026a0002c0002t0001a0002c0002t0003others(6): Show | a0001c0001t0026g0234 a0002c0002t0001g0152 a0002c0002t0001g0192 others(14): Show |
17 | 59 | 0.2881 | 7 | c.362 others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086235 | A | ATATATTT | intron_variant | MODIFIER | HG01243.hp1 HG03209.hp1 HG04204.hp1 others(1): Show |
a0001a0005a0015 | a0001c0001a0005c0005a0015c0018 | a0001c0001t0001a0005c0005t0021a0015c0018t0004 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0005c0005t0021g0033 others(1): Show |
4 | 190 | 0.0211 | 7 | c.29- others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50114103 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0001t0001g0143 a0002c0002t0001g0127 a0002c0002t0001g0128 others(14): Show |
17 | 46 | 0.3696 | 7 | c.-43 others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51623801 | A | AAAGAAAG | intron_variant | MODIFIER | HG01168.hp2 HG01358.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0015others(1): Show | a0001c0001t0009a0001c0001t0013a0001c0001t0022others(6): Show | a0001c0001t0009g0020 a0001c0001t0013g0052 a0001c0001t0013g0122 others(7): Show |
10 | 157 | 0.0637 | 7 | c.201 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 18/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51634855 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0002t0001g0205 others(29): Show |
32 | 116 | 0.2759 | 7 | c.166 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51658888 | C | CGGTGGGG | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(43): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0194 others(43): Show |
46 | 94 | 0.4894 | 7 | c.129 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar |