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 | 25758781 | A | ACTCATTC others(17): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 236 | 0.0042 | 24 | c.654 others(43): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758781 | A | ACTCATTC others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(32): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0003c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(17): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0076 others(32): Show |
35 | 270 | 0.1296 | 24 | c.654 others(43): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25789565 | A | AGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp1 NA18906.hp1 |
a0007a0008a0045 | a0007c0016a0008c0006a0045c0049 | a0007c0016t0001a0008c0006t0001a0045c0049t0001 | a0007c0016t0001g0215 a0008c0006t0001g0242 a0045c0049t0001g0175 |
3 | 123 | 0.0244 | 24 | c.450 others(41): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160637017 | T | TATCCATC others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01167.hp1 HG01167.hp2 others(10): Show |
a0001a0002a0022 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0009a0001c0002t0006others(5): Show | a0001c0001t0002g0024 a0001c0001t0002g0073 a0001c0001t0002g0107 others(10): Show |
13 | 192 | 0.0677 | 24 | c.100 others(41): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160637041 | A | AATCCATC others(17): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0008 | a0001c0008t0019 | a0001c0008t0019g0087 | 1 | 29 | 0.0345 | 24 | c.100 others(41): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47482454 | C | CTCTTCTT others(17): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0019 | 1 | 216 | 0.0046 | 24 | c.-31 others(35): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 2820 | chr4 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112811161 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0214 | 1 | 47 | 0.0213 | 24 | c.441 others(39): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182925797 | T | TGGGGGGG others(17): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0139 | 1 | 322 | 0.0031 | 24 | c.*76 others(35): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 4169 | chr3 | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139925455 | T | TTGTAGCC others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(208): Show |
211 | 232 | 0.9095 | 24 | c.27+ others(39): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24682165 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00735.hp1 others(20): Show |
a0001a0003a0004others(1): Show | a0001c0006a0001c0010a0003c0012others(2): Show | a0001c0006t0001a0001c0010t0001a0003c0012t0001others(2): Show | a0001c0006t0001g0024 a0001c0006t0001g0140 a0001c0006t0001g0141 others(15): Show |
23 | 380 | 0.0605 | 24 | c.168 others(39): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24682392 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01069.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0002t0004a0001c0003t0002others(5): Show | a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0270 others(20): Show |
30 | 354 | 0.0847 | 24 | c.168 others(39): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708942 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0149 | 1 | 372 | 0.0027 | 24 | c.249 others(41): 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(17): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01993.hp2 HG02683.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0030 a0001c0001t0001g0196 a0001c0001t0001g0203 others(1): Show |
5 | 275 | 0.0182 | 24 | c.249 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0285 | 1 | 271 | 0.0037 | 24 | c.249 others(41): 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(17): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 271 | 0.0037 | 24 | c.249 others(41): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708954 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0178 | 1 | 380 | 0.0026 | 24 | c.249 others(41): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194417954 | C | CGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0175 a0001c0001t0009g0294 |
2 | 214 | 0.0093 | 24 | c.340 others(43): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194417958 | C | CGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 200 | 0.0050 | 24 | c.340 others(43): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193503995 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 NA19043.hp2 |
a0001a0006 | a0001c0008a0006c0011 | a0001c0008t0003a0006c0011t0018 | a0001c0008t0003g0026 a0006c0011t0018g0027 |
2 | 262 | 0.0076 | 24 | c.235 others(41): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193504020 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0275 | 1 | 162 | 0.0062 | 24 | c.235 others(41): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193541248 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0286 | 1 | 219 | 0.0046 | 24 | c.60+ others(41): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193362813 | C | CTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0041 | a0003c0041t0002 | a0003c0041t0002g0197 | 1 | 63 | 0.0159 | 24 | c.385 others(39): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
ATP1A3_chr19_41961582_41999230 | 41972883 | C | CAGGCAGG others(17): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0195 | 1 | 280 | 0.0036 | 24 | c.226 others(43): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 16/22 | chr19 | TogoVar | |||||||
ATP1A4_chr1_160146603_160191980 | 160186086 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0178 | 1 | 96 | 0.0104 | 24 | c.297 others(41): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874464 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 333 | 0.0030 | 24 | c.-23 others(35): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2178 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141890160 | G | GGCTCACT others(17): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 391 | 0.0026 | 24 | c.109 others(43): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110309140 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0201 | 1 | 45 | 0.0222 | 24 | c.463 others(43): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01261.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0011 | a0001c0001t0001a0001c0002t0001a0002c0011t0001 | a0001c0001t0001g0077 a0001c0002t0001g0136 a0001c0002t0001g0137 others(3): Show |
6 | 170 | 0.0353 | 24 | c.-22 others(45): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584573 | A | AAGGGAGG others(17): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0015 | a0001c0015t0009 | a0001c0015t0009g0221 | 1 | 260 | 0.0038 | 24 | c.*42 others(35): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1645 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584577 | A | AAGGGAGG others(17): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 250 | 0.0040 | 24 | c.*42 others(35): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1649 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGGAGG others(17): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011 | a0001c0001t0001g0003 a0001c0001t0001g0105 a0001c0001t0001g0156 others(3): Show |
6 | 7 | 0.8571 | 24 | c.*42 others(35): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA19010.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0003g0300 |
2 | 34 | 0.0588 | 24 | c.193 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0043 | a0001c0001t0009g0149 a0001c0001t0043g0158 |
2 | 189 | 0.0106 | 24 | c.240 others(41): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203744827 | T | TACACACA others(17): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG02895.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0012a0001c0001t0015a0001c0001t0038others(1): Show | a0001c0001t0012g0311 a0001c0001t0015g0025 a0001c0001t0015g0026 others(3): Show |
6 | 214 | 0.0280 | 24 | c.*49 others(35): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 747 | chr1 | TogoVar | |||||||
ATP2C2_chr16_84363538_84469187 | 84383735 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03688.hp1 HG03831.hp1 others(2): Show |
a0001a0002a0014 | a0001c0003a0001c0010a0001c0081others(2): Show | a0001c0003t0001a0001c0010t0002a0001c0081t0001others(2): Show | a0001c0003t0001g0125 a0001c0010t0002g0136 a0001c0081t0001g0108 others(2): Show |
5 | 380 | 0.0132 | 24 | c.100 others(43): 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(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01258.hp1 others(13): Show |
a0001a0002a0023others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0373 others(13): Show |
16 | 35 | 0.4571 | 24 | c.100 others(39): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP5MC1_chr17_48887787_48900871 | 48899067 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02257.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 3 | 10 | 0.3000 | 24 | c.*32 others(35): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CACATATA others(17): Show |
intron_variant | MODIFIER | NA18978.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0164 |
2 | 200 | 0.0100 | 24 | c.311 others(41): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53676323 | T | TGGACTGC others(17): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 NA18956.hp1 NA18966.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0148 others(3): Show |
6 | 410 | 0.0146 | 24 | c.-32 others(33): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 241 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53679238 | C | CGAGAGAG others(17): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 42 | 0.0238 | 24 | c.-32 others(35): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar | |||||||
ATP5MGL_chr22_42634803_42645601 | 42638728 | T | TAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01081.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(1): Show | a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0011g0000 others(1): Show |
9 | 69 | 0.1304 | 24 | c.*12 others(35): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1074 | chr22 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103914837 | C | CAAAAAGG others(17): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 342 | 0.0029 | 24 | c.124 others(39): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123712055 | T | TCACACAC others(17): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 HG02486.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0002c0004t0007 | a0001c0002t0002g0166 a0002c0004t0007g0179 |
2 | 173 | 0.0116 | 24 | c.-51 others(33): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 297 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138707068 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02074.hp2 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0001a0002c0002t0001 | a0001c0005t0001g0091 a0002c0002t0001g0086 |
2 | 144 | 0.0139 | 24 | c.243 others(41): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745658 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02109.hp1 HG02258.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0014t0001others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0062 others(6): Show |
9 | 123 | 0.0732 | 24 | c.132 others(41): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745952 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0356 | 1 | 374 | 0.0027 | 24 | c.132 others(41): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86126236 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02040.hp2 NA18942.hp2 others(9): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0007c0008t0001 | a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 others(9): Show |
12 | 76 | 0.1579 | 24 | c.302 others(43): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70962006 | C | CATTTCCC others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(239): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(21): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(25): Show | a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0137 others(203): Show |
242 | 438 | 0.5525 | 24 | c.785 others(39): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17625472 | G | GTCTCAAA others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01109.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 a0001c0001t0004g0193 a0001c0001t0004g0207 others(16): Show |
21 | 368 | 0.0571 | 24 | c.33+ others(39): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1/8 | chr22 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01167.hp2 HG02015.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0001 | a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0071 others(7): Show |
10 | 24 | 0.4167 | 24 | c.295 others(41): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar |