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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18972.hp1 |
a0001a0002 | a0001c0002a0002c0074 | a0001c0002t0003a0002c0074t0002 | a0001c0002t0003g0100 a0002c0074t0002g0064 |
2 | 21 | 0.0952 | 16 | c.100 others(31): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84397670 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0027 | 1 | 426 | 0.0023 | 16 | c.100 others(31): 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(9): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 117 | 0.0085 | 16 | c.920 others(33): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46094186 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG01943.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0082others(1): Show | a0001c0001t0005g0013 a0001c0001t0016g0042 a0001c0001t0082g0180 others(1): Show |
9 | 165 | 0.0545 | 16 | c.139 others(31): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48899067 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0003g0003 |
33 | 40 | 0.8250 | 16 | c.*32 others(27): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53664344 | A | AAAATAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01167.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0017 others(5): Show |
9 | 93 | 0.0968 | 16 | c.*95 others(25): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 825 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CACATATA others(9): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19004.hp2 NA19064.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0183 |
4 | 202 | 0.0198 | 16 | c.311 others(33): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG01255.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0087 others(2): Show |
18 | 85 | 0.2118 | 16 | c.39+ others(29): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53673319 | A | AAAACAAA others(9): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0134 |
2 | 174 | 0.0115 | 16 | c.-31 others(31): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53679238 | C | CGAGAGAG others(9): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 NA19004.hp2 NA19064.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0003t0001g0109 |
4 | 45 | 0.0889 | 16 | c.-32 others(27): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar | |||||||
ATP5ME_chr4_667436_679276 | 669110 | C | CTATTCCC others(9): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 3 | 392 | 0.0077 | 16 | c.*33 others(27): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3325 | chr4 | TogoVar | |||||||
ATP5MGL_chr22_42634803_42645601 | 42638728 | T | TAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0005 | a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0002t0005g0000 |
6 | 66 | 0.0909 | 16 | c.*12 others(27): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1074 | chr22 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103908190 | G | GAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG03139.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 a0002c0002t0001g0105 a0002c0002t0001g0106 |
6 | 437 | 0.0137 | 16 | c.*44 others(27): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 4097 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103914837 | C | CAAAAAGG others(9): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01943.hp1 HG02293.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0052 |
7 | 348 | 0.0201 | 16 | c.124 others(31): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103914849 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG00642.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(25): Show |
84 | 402 | 0.2090 | 16 | c.124 others(31): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103925043 | C | CTTTTTTT others(9): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01978.hp1 NA19070.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 a0002c0002t0001g0043 a0002c0002t0001g0181 |
4 | 329 | 0.0122 | 16 | c.-35 others(27): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 3515 | chr14 | TogoVar | |||||||
ATP5PB_chr1_111444464_111467773 | 111457312 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG02896.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0004 | a0001c0001t0012g0115 a0001c0002t0004g0050 |
2 | 260 | 0.0077 | 16 | c.513 others(31): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP5PF_chr21_25719500_25739904 | 25730736 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 21 | 0.0476 | 16 | c.-7- others(29): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123712053 | T | TCACACAC others(9): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0153 | 1 | 218 | 0.0046 | 16 | c.-51 others(25): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 299 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123712055 | T | TCACACAC others(9): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01255.hp1 HG01358.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0004 a0001c0002t0002g0013 a0001c0002t0002g0015 others(3): Show |
7 | 178 | 0.0393 | 16 | c.-51 others(25): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 297 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123712059 | T | TCACACAC others(9): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0129 | 1 | 149 | 0.0067 | 16 | c.-50 others(25): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 293 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123712076 | C | CACACACA others(9): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02818.hp2 NA18522.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0012 a0001c0003t0004g0141 a0001c0003t0004g0142 others(1): Show |
5 | 208 | 0.0240 | 16 | c.-49 others(25): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 276 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123729322 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0089 a0001c0001t0003g0035 a0001c0001t0003g0037 others(6): Show |
9 | 65 | 0.1385 | 16 | c.648 others(33): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123765564 | T | TTATCTAT others(9): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01109.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0028others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 others(10): Show |
14 | 54 | 0.2593 | 16 | c.*75 others(27): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3810 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123766287 | G | GCCTACCT others(9): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01346.hp1 HG01975.hp1 others(16): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0017a0001c0002t0002others(6): Show | a0001c0001t0001g0099 a0001c0001t0017g0183 a0001c0002t0002g0015 others(13): Show |
19 | 177 | 0.1073 | 16 | c.*82 others(27): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 4533 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138707066 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0120 | 1 | 374 | 0.0027 | 16 | c.243 others(33): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138707068 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp2 others(35): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(14): Show | a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0090 others(35): Show |
38 | 180 | 0.2111 | 16 | c.243 others(33): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138718201 | G | GGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 246 | 0.0041 | 16 | c.214 others(35): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138737115 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0109 | 1 | 113 | 0.0088 | 16 | c.157 others(35): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745658 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01891.hp2 HG02132.hp1 others(10): Show |
a0001a0002a0004others(3): Show | a0001c0007a0001c0013a0002c0003others(8): Show | a0001c0007t0001a0001c0013t0001a0002c0003t0001others(9): Show | a0001c0007t0001g0333 a0001c0013t0001g0181 a0002c0003t0001g0191 others(10): Show |
13 | 127 | 0.1024 | 16 | c.132 others(33): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138746005 | T | TATATATT others(9): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0005a0001c0013a0001c0035 | a0001c0005t0002a0001c0005t0004a0001c0013t0001others(1): Show | a0001c0005t0002g0043 a0001c0005t0004g0177 a0001c0013t0001g0104 others(3): Show |
6 | 167 | 0.0359 | 16 | c.132 others(33): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138777633 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02486.hp1 NA18522.hp1 |
a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0197 a0001c0010t0002g0198 |
2 | 282 | 0.0071 | 16 | c.-17 others(33): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86104850 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00597.hp2 others(58): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0022 others(57): Show |
61 | 198 | 0.3081 | 16 | c.130 others(33): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86126236 | C | CTATATAT others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01981.hp1 HG01993.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0050 a0001c0001t0001g0144 a0001c0001t0001g0186 others(14): Show |
17 | 81 | 0.2099 | 16 | c.302 others(35): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145195 | A | AAAAGAAA others(9): Show |
intron_variant | MODIFIER | HG00597.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 a0001c0001t0002g0245 |
2 | 344 | 0.0058 | 16 | c.639 others(33): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145233 | A | AAGAAAGA others(9): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 312 | 0.0032 | 16 | c.639 others(33): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70945701 | G | GAGATATA others(9): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0248 | 1 | 64 | 0.0156 | 16 | c.174 others(33): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70964114 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03516.hp1 |
a0002 | a0002c0006a0002c0012 | a0002c0006t0001a0002c0012t0005 | a0002c0006t0001g0249 a0002c0012t0005g0034 |
2 | 45 | 0.0444 | 16 | c.114 others(33): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70965548 | T | TAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02818.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0013others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0007t0001others(4): Show | a0001c0001t0001g0048 a0001c0001t0001g0137 a0001c0001t0006g0352 others(5): Show |
8 | 134 | 0.0597 | 16 | c.*42 others(25): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 118 | chr2 | TogoVar | |||||||
ATP6V1C1_chr8_103016083_103078051 | 103047430 | G | GCGCACAC others(9): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0255 | 1 | 252 | 0.0040 | 16 | c.201 others(33): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10772836 | G | GGCTGCCC others(9): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp1 others(134): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(7): Show | a0001c0001t0002a0001c0001t0013a0001c0006t0005others(19): Show | a0001c0001t0002g0316 a0001c0001t0002g0338 a0001c0001t0013g0074 others(134): Show |
137 | 352 | 0.3892 | 16 | c.638 others(31): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10788065 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01192.hp1 |
a0002 | a0002c0007 | a0002c0007t0009 | a0002c0007t0009g0040 a0002c0007t0009g0041 a0002c0007t0009g0151 |
3 | 206 | 0.0146 | 16 | c.*48 others(27): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2956 | chr2 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17596132 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0009 | a0001c0002t0006g0043 a0001c0002t0006g0044 a0001c0002t0006g0045 others(2): Show |
5 | 361 | 0.0139 | 16 | c.531 others(33): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 7/8 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17629818 | T | TACACACA others(9): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0225 | 1 | 156 | 0.0064 | 16 | c.-11 others(27): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1070 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631670 | G | GTATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 214 | 0.0047 | 16 | c.-30 others(27): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2922 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631670 | G | GTGTATAT others(9): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0093 |
2 | 215 | 0.0093 | 16 | c.-30 others(27): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2922 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631670 | G | GTGTGTAT others(9): Show |
upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 214 | 0.0047 | 16 | c.-30 others(27): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2922 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 185 | 0.0054 | 16 | c.-30 others(27): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46513198 | C | CAGGATTT others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(107): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(63): Show |
110 | 408 | 0.2696 | 16 | c.-10 others(33): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46518490 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00738.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 others(11): Show |
14 | 56 | 0.2500 | 16 | c.-10 others(35): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar |