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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP10A_chr15_25673712_25868327 | 25789565 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01169.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0192 others(8): Show |
11 | 131 | 0.0840 | 20 | c.450 others(37): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160637017 | T | TATCCATC others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00673.hp2 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0231 a0001c0001t0002g0011 a0001c0001t0002g0040 others(34): Show |
37 | 216 | 0.1713 | 20 | c.100 others(37): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160637041 | A | AATCCATC others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 NA19043.hp2 |
a0001 | a0001c0008a0001c0029 | a0001c0008t0019a0001c0008t0037a0001c0029t0047 | a0001c0008t0019g0029 a0001c0008t0037g0023 a0001c0029t0047g0219 |
3 | 31 | 0.0968 | 20 | c.100 others(37): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160669918 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03130.hp2 HG03195.hp2 |
a0008a0019 | a0008c0012a0019c0038 | a0008c0012t0017a0019c0038t0022 | a0008c0012t0017g0185 a0008c0012t0017g0196 a0019c0038t0022g0133 |
3 | 44 | 0.0682 | 20 | c.675 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160849618 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0167 | 1 | 36 | 0.0278 | 20 | c.-57 others(39): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112811161 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 NA18973.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0056a0001c0002t0013 | a0001c0001t0056g0008 a0001c0002t0013g0211 |
2 | 48 | 0.0417 | 20 | c.441 others(35): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112891635 | G | GCCCCCCC others(13): Show |
downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0189 | 1 | 252 | 0.0040 | 20 | c.*97 others(31): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 4468 | chr13 | TogoVar | |||||||
ATP11B_chr3_182788504_182926629 | 182839604 | A | ATTTATTT others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02486.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0009a0001c0002t0010 | a0001c0002t0004g0001 a0001c0002t0004g0309 a0001c0002t0004g0310 others(6): Show |
11 | 155 | 0.0710 | 20 | c.656 others(37): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139769281 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 NA18942.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0194 |
3 | 34 | 0.0882 | 20 | c.221 others(37): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139866343 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0051 | 1 | 89 | 0.0112 | 20 | c.28- others(37): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG01070.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0027a0003c0012 | a0001c0001t0001a0001c0001t0004a0001c0027t0001others(1): Show | a0001c0001t0001g0031 a0001c0001t0001g0198 a0001c0001t0001g0201 others(5): Show |
9 | 279 | 0.0323 | 20 | c.249 others(37): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 HG02970.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(2): Show | a0001c0001t0001g0073 a0001c0003t0001g0061 a0001c0003t0001g0163 others(3): Show |
7 | 277 | 0.0253 | 20 | c.249 others(37): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG02300.hp2 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0103 a0001c0005t0001g0016 a0001c0005t0001g0240 |
4 | 274 | 0.0146 | 20 | c.249 others(37): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24716709 | C | CCCACCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 380 | 0.0026 | 20 | c.*51 others(31): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 4238 | chr13 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194409693 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 119 | 0.0084 | 20 | c.357 others(39): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194417954 | C | CGGAAGGA others(13): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 213 | 0.0047 | 20 | c.340 others(39): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194468386 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0188 a0001c0001t0007g0189 |
2 | 208 | 0.0096 | 20 | c.-46 others(37): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193504020 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01257.hp2 HG01978.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0001others(4): Show | a0001c0001t0002g0288 a0001c0001t0003g0301 a0001c0004t0001g0286 others(7): Show |
10 | 171 | 0.0585 | 20 | c.235 others(37): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193270069 | A | AATACACA others(13): Show |
downstream_gene_variant | MODIFIER | NA19057.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0040 | 1 | 43 | 0.0233 | 20 | c.*49 others(31): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 4719 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874406 | C | CAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0105 | 1 | 264 | 0.0038 | 20 | c.-23 others(31): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2236 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874436 | A | AATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 303 | 0.0033 | 20 | c.-23 others(31): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2206 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 106 | 0.0094 | 20 | c.-23 others(31): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141877227 | A | ACCCCTGC others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0047 others(62): Show |
65 | 406 | 0.1601 | 20 | c.109 others(35): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110293850 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0219 | 1 | 226 | 0.0044 | 20 | c.324 others(37): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3965877 | T | TTATTATT others(13): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0002 | 1 | 284 | 0.0035 | 20 | c.-15 others(31): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1441 | chr17 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89643065 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03927.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 a0001c0002t0001g0118 |
2 | 155 | 0.0129 | 20 | c.209 others(35): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89658598 | G | GGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02300.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0012 | a0001c0001t0001g0203 a0001c0001t0001g0284 a0001c0001t0001g0304 others(2): Show |
6 | 51 | 0.1176 | 20 | c.-22 others(39): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89658639 | G | GAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 330 | 0.0030 | 20 | c.-22 others(39): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 165 | 0.0061 | 20 | c.-22 others(41): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03540.hp1 HG03654.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 others(12): Show |
15 | 179 | 0.0838 | 20 | c.-22 others(41): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677971 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0002 | 2 | 210 | 0.0095 | 20 | c.-22 others(41): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10471364 | C | CTGAGTGT others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0177 | 1 | 18 | 0.0556 | 20 | c.-31 others(41): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10488463 | A | ATTCATTC others(13): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0014 | 1 | 155 | 0.0065 | 20 | c.-32 others(41): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10488511 | C | CTTCCTTC others(13): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0269 | 1 | 146 | 0.0068 | 20 | c.-32 others(41): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02735.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0058 | a0001c0001t0001g0103 a0001c0003t0058g0022 |
2 | 34 | 0.0588 | 20 | c.193 others(37): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203719721 | T | TATAAATA others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02258.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0029others(1): Show | a0001c0001t0002g0051 a0001c0001t0002g0308 a0001c0001t0006g0085 others(2): Show |
5 | 192 | 0.0260 | 20 | c.240 others(37): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203723420 | A | ATCTCTCT others(13): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 197 | 0.0051 | 20 | c.302 others(37): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203744827 | T | TACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0026a0001c0001t0028 | a0001c0001t0022g0136 a0001c0001t0022g0151 a0001c0001t0026g0256 others(3): Show |
6 | 214 | 0.0280 | 20 | c.*49 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 747 | chr1 | TogoVar | |||||||
ATP2C1_chr3_130889084_131008150 | 130903700 | C | CCCTTTCC others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02895.hp2 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0084 a0001c0001t0001g0086 others(2): Show |
6 | 114 | 0.0526 | 20 | c.6+8 others(33): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84379109 | C | CTTCCCCT others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0143 | 1 | 430 | 0.0023 | 20 | c.99+ others(37): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84383735 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01070.hp2 others(14): Show |
a0001a0002a0022 | a0001c0001a0001c0005a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0410 a0001c0001t0002g0396 a0001c0001t0002g0398 others(14): Show |
17 | 392 | 0.0434 | 20 | c.100 others(39): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01361.hp2 HG01496.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0001others(12): Show | a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0310 others(24): Show |
27 | 46 | 0.5870 | 20 | c.100 others(35): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84424576 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0389 | 1 | 117 | 0.0085 | 20 | c.920 others(37): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84424599 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0295 | 1 | 364 | 0.0027 | 20 | c.920 others(37): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | chr16 | TogoVar | |||||||
ATP4A_chr19_35545031_35568658 | 35562515 | G | GGCACTGC others(13): Show |
frameshift_variant | HIGH | HG02135.hp1 | a0007 | a0007c0031 | a0007c0031t0001 | a0007c0031t0001g0178 | 1 | 424 | 0.0024 | 20 | c.320 others(27): Show |
p.Leu others(5): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 4/22 | 368/3721 | 339/3108 | 113/1035 | chr19 | TogoVar | |||
ATP5F1A_chr18_46075248_46103296 | 46094186 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0186 | 1 | 157 | 0.0064 | 20 | c.139 others(35): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48890144 | A | AAAAAGAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0003g0003 |
45 | 197 | 0.2284 | 20 | c.-27 others(31): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 2642 | chr17 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53664344 | A | AAAATAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 85 | 0.0118 | 20 | c.*95 others(29): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 825 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CACATATA others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01256.hp2 HG01258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0137 others(2): Show |
9 | 207 | 0.0435 | 20 | c.311 others(37): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 199 | 0.0050 | 20 | c.311 others(37): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar |