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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATAD5_chr17_30826966_30900869 | 30850855 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG03486.hp1 |
a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0103 a0004c0003t0004g0104 |
2 | 279 | 0.0072 | -17 | c.245 others(36): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30850857 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0101 | 1 | 276 | 0.0036 | -17 | c.245 others(36): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30850859 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG03098.hp1 |
a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0092 a0004c0003t0004g0113 |
2 | 278 | 0.0072 | -17 | c.245 others(36): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATG101_chr12_52064978_52082495 | 52068990 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0043 | 1 | 99 | 0.0101 | -17 | c.-14 others(28): Show |
ATG101 | ENSG00000123395.15 | transcript | ENST00000336854.9 | protein_coding | 987 | chr12 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 81993366 | TTCTTTTC others(10): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0140 | 1 | 208 | 0.0048 | -17 | c.108 others(34): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG12_chr5_115823200_115846565 | 115845836 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0026 | 1 | 74 | 0.0135 | -17 | c.-43 others(28): Show |
ATG12 | ENSG00000145782.13 | transcript | ENST00000509910.2 | protein_coding | 4272 | chr5 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402919 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02129.hp1 HG02258.hp1 NA18962.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0141 a0001c0002t0002g0001 a0001c0002t0002g0077 |
3 | 353 | 0.0085 | -17 | c.222 others(34): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402921 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0183 | 1 | 353 | 0.0028 | -17 | c.222 others(34): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402925 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 344 | 0.0029 | -17 | c.222 others(34): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG3_chr3_112527510_112566962 | 112536920 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02572.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 a0001c0001t0001g0149 a0001c0001t0001g0155 |
3 | 8 | 0.3750 | -17 | c.667 others(32): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
ATG4D_chr19_10538904_10558418 | 10548003 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02622.hp2 HG04228.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0087 a0001c0001t0001g0132 a0001c0001t0001g0149 others(2): Show |
5 | 11 | 0.4545 | -17 | c.835 others(32): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11519539 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG03195.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 a0001c0001t0002g0193 a0001c0001t0002g0197 others(3): Show |
6 | 70 | 0.0857 | -17 | c.208 others(38): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG9B_chr7_151010151_151029494 | 151018208 | CCAGACAG others(10): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 |
a0001a0007 | a0001c0037a0007c0014 | a0001c0037t0001a0007c0014t0001 | a0001c0037t0001g0158 a0007c0014t0001g0056 |
2 | 464 | 0.0043 | -17 | c.187 others(32): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 7/13 | chr7 | TogoVar | |||||||
ATIC_chr2_215307059_215354764 | 215322082 | TAATAGAG others(10): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02559.hp1 others(3): Show |
a0001a0011 | a0001c0001a0001c0007a0011c0018 | a0001c0001t0001a0001c0007t0001a0011c0018t0001 | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 others(2): Show |
6 | 380 | 0.0158 | -17 | c.290 others(34): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38370448 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01496.hp2 HG02132.hp2 others(12): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0009 | a0001c0001t0004a0001c0003t0006a0006c0009t0014 | a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 others(12): Show |
15 | 37 | 0.4054 | -17 | c.118 others(34): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25730312 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 298 | 0.0034 | -17 | c.741 others(34): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 3/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25847609 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0190 | 1 | 9 | 0.1111 | -17 | c.449 others(36): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160755835 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp1 NA19060.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0014 | a0001c0001t0001g0166 a0001c0001t0002g0075 a0001c0005t0014g0022 |
3 | 203 | 0.0148 | -17 | c.-33 others(38): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160755837 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01515.hp1 HG02155.hp1 others(5): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0002c0010others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0079 a0001c0001t0002g0199 a0001c0001t0002g0202 others(5): Show |
8 | 185 | 0.0432 | -17 | c.-33 others(38): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112787826 | GGTGTCCT others(10): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0008 | a0008c0023 | a0008c0023t0002 | a0008c0023t0002g0064 | 1 | 252 | 0.0040 | -17 | c.162 others(34): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804035 | CCCTCCTT others(10): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01255.hp2 others(6): Show |
a0001a0006 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0010a0001c0001t0068a0001c0004t0002others(5): Show | a0001c0001t0010g0002 a0001c0001t0068g0098 a0001c0004t0002g0208 others(6): Show |
9 | 252 | 0.0357 | -17 | c.163 others(32): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804226 | CCCCCCAT others(10): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG03486.hp1 |
a0001 | a0001c0029a0001c0030 | a0001c0029t0053a0001c0030t0001 | a0001c0029t0053g0046 a0001c0030t0001g0104 |
2 | 249 | 0.0080 | -17 | c.163 others(32): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804347 | GCCCTCGT others(10): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0045 | a0001c0045t0014 | a0001c0045t0014g0254 | 1 | 245 | 0.0041 | -17 | c.163 others(32): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139742873 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0219 | 1 | 212 | 0.0047 | -17 | c.303 others(34): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139849436 | GGTATTCT others(10): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 232 | 0.0043 | -17 | c.28- others(34): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139852450 | TGCGGGGG others(10): Show |
T | intron_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0040 | 1 | 186 | 0.0054 | -17 | c.28- others(34): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139852452 | CGGGGGGG others(10): Show |
C | intron_variant | MODIFIER | HG02523.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0099 |
2 | 62 | 0.0323 | -17 | c.28- others(34): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24682151 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG02145.hp1 others(16): Show |
a0001a0008a0011 | a0001c0003a0001c0007a0008c0013others(1): Show | a0001c0003t0006a0001c0007t0006a0001c0007t0015others(2): Show | a0001c0003t0006g0009 a0001c0003t0006g0010 a0001c0003t0006g0025 others(11): Show |
19 | 380 | 0.0500 | -17 | c.168 others(32): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708886 | GAGAAAGA others(10): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0176 | 1 | 362 | 0.0028 | -17 | c.249 others(34): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194410296 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0072 a0001c0001t0012g0256 a0001c0001t0012g0257 others(2): Show |
5 | 140 | 0.0357 | -17 | c.357 others(36): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193418121 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01255.hp1 HG01361.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0153 a0001c0001t0001g0182 a0001c0001t0001g0233 others(23): Show |
26 | 87 | 0.2989 | -17 | c.284 others(36): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 25/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193546007 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 300 | 0.0033 | -17 | c.60+ others(32): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193548251 | GAATGCAA others(10): Show |
G | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0296 | 1 | 300 | 0.0033 | -17 | c.60+ others(32): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP1A3_chr19_41961582_41999230 | 41990133 | CAAGCTGT others(10): Show |
C | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 280 | 0.0036 | -17 | c.7-1 others(30): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 1/22 | chr19 | TogoVar | |||||||
ATP1A4_chr1_160146603_160191980 | 160180694 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02004.hp2 HG02258.hp1 others(9): Show |
a0001a0002a0005 | a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0003t0001a0001c0004t0001a0001c0005t0001others(3): Show | a0001c0003t0001g0322 a0001c0004t0001g0306 a0001c0004t0001g0332 others(9): Show |
12 | 27 | 0.4444 | -17 | c.273 others(34): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169136104 | ACATATAT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(230): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0022 others(197): Show |
233 | 410 | 0.5683 | -17 | c.*45 others(28): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 3386 | chr1 | TogoVar | |||||||
ATP1B2_chr17_7645926_7662770 | 7660810 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0003 | 1 | 48 | 0.0208 | -17 | c.*49 others(28): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 3041 | chr17 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874779 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(47): Show |
55 | 68 | 0.8088 | -17 | c.-20 others(28): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1863 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141890285 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 15 | 0.0667 | -17 | c.110 others(36): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3966363 | GTTTTTTT others(10): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01433.hp2 HG01978.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(4): Show | a0001c0001t0001g0295 a0001c0002t0002g0126 a0001c0002t0002g0130 others(5): Show |
8 | 33 | 0.2424 | -17 | c.-20 others(28): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1927 | chr17 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89652114 | TTGTGAAC others(10): Show |
T | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 330 | 0.0030 | -17 | c.208 others(34): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10392361 | TGCCCTGT others(10): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG02109.hp2 others(23): Show |
a0001 | a0001c0001a0001c0004a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0095 a0001c0001t0001g0145 a0001c0001t0001g0245 others(23): Show |
26 | 288 | 0.0903 | -17 | c.782 others(34): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
ATP2C1_chr3_130889084_131008150 | 130902284 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 120 | 0.0083 | -17 | c.6+7 others(30): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP4A_chr19_35545031_35568658 | 35560223 | TGGGGAGG others(10): Show |
T | intron_variant | MODIFIER | HG02630.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 2 | 424 | 0.0047 | -17 | c.787 others(32): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 6/21 | chr19 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53671113 | TTCTGGTA others(10): Show |
T | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 416 | 0.0024 | -17 | c.40- others(32): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP5PF_chr21_25719500_25739904 | 25721273 | GAAAAGAA others(10): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 414 | 0.0024 | -17 | c.*33 others(28): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 3226 | chr21 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86145362 | GAAGGAAG others(10): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 345 | 0.0029 | -17 | c.639 others(34): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1C1_chr8_103016083_103078051 | 103062161 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 114 | 0.0088 | -17 | c.642 others(32): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755723 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 281 | 0.0036 | -17 | c.127 others(34): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755725 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0236 |
3 | 282 | 0.0106 | -17 | c.127 others(34): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar |