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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP5PF_chr21_25719500_25739904 | 25730736 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02004.hp1 HG03195.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0121 |
3 | 23 | 0.1304 | 12 | c.-7- others(25): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
ATP5PO_chr21_33898453_33920804 | 33905918 | G | GAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02056.hp1 HG02056.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0072 others(6): Show |
26 | 168 | 0.1548 | 12 | c.441 others(29): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 5/6 | chr21 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123712053 | T | TCACACAC others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0154 | 1 | 218 | 0.0046 | 12 | c.-51 others(21): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 299 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123712055 | T | TCACACAC others(5): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 a0001c0002t0002g0015 |
2 | 173 | 0.0116 | 12 | c.-51 others(21): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 297 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123712059 | T | TCACACAC others(5): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0130 | 1 | 149 | 0.0067 | 12 | c.-50 others(21): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 293 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123712061 | T | TCACACAC others(5): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01256.hp2 HG01975.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0002c0004t0006 | a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 others(2): Show |
5 | 123 | 0.0407 | 12 | c.-50 others(21): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 291 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123712076 | C | CACACACA others(5): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG02809.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0007 | a0001c0001t0004a0001c0006t0038a0003c0007t0013 | a0001c0001t0004g0140 a0001c0006t0038g0133 a0003c0007t0013g0126 others(2): Show |
5 | 208 | 0.0240 | 12 | c.-49 others(21): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 276 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123765564 | T | TTATCTAT others(5): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(36): Show |
a0001a0010 | a0001c0001a0010c0009 | a0001c0001t0001a0001c0001t0014a0001c0001t0026others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(29): Show |
39 | 79 | 0.4937 | 12 | c.*75 others(23): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3810 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123765798 | T | TCTATCTA others(5): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01243.hp1 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(18): Show | a0001c0001t0001g0029 a0001c0001t0005g0038 a0001c0001t0005g0039 others(49): Show |
56 | 220 | 0.2545 | 12 | c.*77 others(23): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 4044 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123766287 | G | GCCTACCT others(5): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01358.hp2 HG02145.hp1 others(16): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0011a0001c0001t0037a0001c0002t0002others(6): Show | a0001c0001t0011g0145 a0001c0001t0037g0128 a0001c0002t0002g0004 others(16): Show |
19 | 177 | 0.1073 | 12 | c.*82 others(23): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 4533 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138707068 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01943.hp2 HG02004.hp1 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0021others(4): Show | a0001c0001t0001a0001c0005t0001a0001c0021t0001others(4): Show | a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0058 others(22): Show |
25 | 167 | 0.1497 | 12 | c.243 others(29): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138708017 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0130 | 1 | 230 | 0.0043 | 12 | c.243 others(31): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138718201 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG02897.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0005t0004a0002c0002t0001others(4): Show | a0001c0001t0001g0092 a0001c0005t0004g0177 a0002c0002t0001g0300 others(4): Show |
7 | 252 | 0.0278 | 12 | c.214 others(31): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138730341 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18966.hp2 NA18967.hp2 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0015others(1): Show | a0001c0001t0001a0003c0004t0001a0004c0015t0001others(1): Show | a0001c0001t0001g0124 a0003c0004t0001g0340 a0004c0015t0001g0183 others(1): Show |
4 | 56 | 0.0714 | 12 | c.190 others(31): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138736091 | A | AACAAACA others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0038 | 1 | 369 | 0.0027 | 12 | c.157 others(31): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745658 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 115 | 0.0087 | 12 | c.132 others(29): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745960 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0031 | a0003c0031t0006 | a0003c0031t0006g0344 | 1 | 147 | 0.0068 | 12 | c.132 others(29): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138759052 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0067 | 1 | 83 | 0.0120 | 12 | c.639 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 8/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138765735 | G | GGTTTTTG others(5): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0203 | 1 | 321 | 0.0031 | 12 | c.292 others(29): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 5/21 | chr7 | TogoVar | |||||||
ATP6V0B_chr1_43969960_43983295 | 43979173 | C | CCGCGGGG others(5): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 NA19009.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 394 | 0.0076 | 12 | c.*11 others(23): Show |
ATP6V0B | ENSG00000117410.14 | transcript | ENST00000472174.7 | protein_coding | 879 | chr1 | TogoVar | |||||||
ATP6V0C_chr16_2508952_2525218 | 2517713 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 69 | 0.0145 | 12 | c.80- others(27): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86095170 | T | TTAAATAA others(5): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 168 | 0.0060 | 12 | c.-38 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 3739 | chr8 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86104850 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01243.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0037 a0001c0001t0001g0113 a0001c0001t0001g0114 others(7): Show |
10 | 147 | 0.0680 | 12 | c.130 others(29): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86118002 | T | TTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG04115.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0179 |
2 | 163 | 0.0123 | 12 | c.302 others(29): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86126236 | C | CTATATAT others(5): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01074.hp1 HG01106.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0067 others(23): Show |
27 | 91 | 0.2967 | 12 | c.302 others(31): 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(5): Show |
intron_variant | MODIFIER | HG02083.hp1 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 a0001c0001t0002g0262 |
2 | 344 | 0.0058 | 12 | c.639 others(29): 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(5): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18939.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0152 a0001c0001t0002g0167 |
3 | 314 | 0.0096 | 12 | c.639 others(29): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86155252 | T | TAGGGCTC others(5): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 358 | 0.0028 | 12 | c.*22 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1028 | chr8 | TogoVar | |||||||
ATP6V0E1_chr5_172978771_173040445 | 172981383 | G | GAGGAAGG others(5): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 122 | 0.0082 | 12 | c.-24 others(23): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2387 | chr5 | TogoVar | |||||||
ATP6V0E1_chr5_172978771_173040445 | 172991984 | T | TTTCTTTC others(5): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 292 | 0.0034 | 12 | c.105 others(29): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 172991999 | C | CTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03130.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 |
3 | 292 | 0.0103 | 12 | c.105 others(29): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 173027357 | C | CCTGACAT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(101): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(97): Show |
104 | 292 | 0.3562 | 12 | c.*36 others(29): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 173030921 | G | GTATTTAT others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG03209.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(4): Show |
7 | 103 | 0.0680 | 12 | c.*37 others(29): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70945699 | G | GATATATA others(5): Show |
intron_variant | MODIFIER | HG02258.hp2 NA18963.hp2 NA18973.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020 a0001c0002t0001g0006 a0001c0002t0001g0010 |
3 | 266 | 0.0113 | 12 | c.174 others(29): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70945701 | G | GAGAGATA others(5): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 64 | 0.0156 | 12 | c.174 others(29): 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(5): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0001c0017others(5): Show | a0001c0001t0001a0001c0007t0001a0001c0017t0009others(5): Show | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 others(10): Show |
13 | 56 | 0.2321 | 12 | c.114 others(29): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C1_chr8_103016083_103078051 | 103047430 | G | GCACACAC others(5): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0079 | 1 | 252 | 0.0040 | 12 | c.201 others(29): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1C1_chr8_103016083_103078051 | 103047430 | G | GCGCACAC others(5): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0277 | 1 | 252 | 0.0040 | 12 | c.201 others(29): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17596132 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0203 | 1 | 357 | 0.0028 | 12 | c.531 others(29): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 7/8 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17629818 | T | TACACACA others(5): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG03041.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0028 a0001c0001t0002g0252 a0001c0001t0002g0255 others(9): Show |
13 | 168 | 0.0774 | 12 | c.-11 others(23): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1070 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631670 | G | GTATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG02165.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0004t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0064 others(4): Show |
7 | 220 | 0.0318 | 12 | c.-30 others(23): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2922 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631670 | G | GTGTATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 NA18951.hp2 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0054 a0001c0001t0001g0140 others(1): Show |
4 | 217 | 0.0184 | 12 | c.-30 others(23): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2922 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631670 | G | GTGTGTAT others(5): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 214 | 0.0047 | 12 | c.-30 others(23): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2922 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631670 | G | GTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 214 | 0.0047 | 12 | c.-30 others(23): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2922 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATAT others(5): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0129 a0001c0001t0007g0138 |
2 | 186 | 0.0108 | 12 | c.-30 others(23): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0080 others(1): Show |
4 | 188 | 0.0213 | 12 | c.-30 others(23): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46518490 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02273.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0208 |
3 | 45 | 0.0667 | 12 | c.-10 others(31): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46518758 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 20 | 0.0500 | 12 | c.-10 others(31): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46540613 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 31 | 0.0323 | 12 | c.-31 others(29): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
ATP6V1FNB_chr7_128861330_128877047 | 128876369 | A | ATGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(96): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0006 others(9): Show |
99 | 439 | 0.2255 | 12 | c.*75 others(23): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 4323 | chr7 | TogoVar |