regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP5MJ_chr14_103907288_103926529 | 103908165 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0175 | 1 | 440 | 0.0023 | 12 | c.*45 others(23): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 4122 | chr14 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103917730 | T | TGCTAGCT others(5): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 440 | 0.0023 | 12 | c.1-2 others(25): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103925043 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0179 | 1 | 440 | 0.0023 | 12 | c.-35 others(23): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 3515 | chr14 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111457312 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0017a0001c0002t0004 | a0001c0001t0005g0012a0001c0001t0005g0043a0001c0001t0005g0114others(2): Show | 10 | 434 | 0.0230 | 12 | c.513 others(27): 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(5): Show |
intron_variant | MODIFIER | HG02004.hp1 HG03195.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0121 | 3 | 416 | 0.0072 | 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 | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0072others(6): Show | 26 | 436 | 0.0596 | 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 | 222 | 0.0045 | 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 | a0001c0002t0002g0004a0001c0002t0002g0015 | 2 | 222 | 0.0090 | 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 | 222 | 0.0045 | 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 | a0001c0001t0005g0122a0001c0001t0005g0123a0001c0001t0005g0124others(2): Show | 5 | 222 | 0.0225 | 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 | a0001c0001t0004g0140a0001c0006t0038g0133a0003c0007t0013g0126others(2): Show | 5 | 222 | 0.0225 | 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 |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0001a0001c0001t0014a0001c0001t0026others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(29): Show | 39 | 222 | 0.1757 | 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 | a0001c0001t0001g0029a0001c0001t0005g0038a0001c0001t0005g0039others(49): Show | 56 | 222 | 0.2523 | 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 |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0011a0001c0001t0037a0001c0002t0002others(6): Show | a0001c0001t0011g0145a0001c0001t0037g0128a0001c0002t0002g0004others(16): Show | 19 | 222 | 0.0856 | 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 | a0001c0001t0001g0041a0001c0001t0001g0051a0001c0001t0001g0058others(22): Show | 25 | 376 | 0.0665 | 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 | a0001c0008t0001g0129 | 1 | 376 | 0.0027 | 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 | a0001c0001t0001g0091a0001c0005t0004g0177a0002c0002t0001g0262others(4): Show | 7 | 376 | 0.0186 | 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 | a0001c0001t0001g0124a0003c0004t0001g0341a0004c0015t0001g0183others(1): Show | 4 | 376 | 0.0106 | 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 | 376 | 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 | 376 | 0.0027 | 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 | 376 | 0.0027 | 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 | 376 | 0.0027 | 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 | 376 | 0.0027 | 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 | 396 | 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 | a0001c0001t0001g0066 | 1 | 336 | 0.0030 | 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 | a0001c0001t0001g0339 | 1 | 360 | 0.0028 | 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 | a0001c0001t0001g0025a0001c0001t0001g0101a0001c0001t0001g0102others(7): Show | 10 | 360 | 0.0278 | 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 | a0001c0001t0001g0025a0001c0001t0001g0176 | 2 | 360 | 0.0056 | 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 | a0001c0001t0001g0012a0001c0001t0001g0055a0001c0001t0001g0181others(24): Show | 27 | 360 | 0.0750 | 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 | a0001c0001t0002g0152a0001c0001t0002g0266 | 2 | 360 | 0.0056 | 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 | a0001c0001t0002g0145a0001c0001t0002g0153a0001c0001t0002g0164 | 3 | 360 | 0.0083 | 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 | a0001c0001t0001g0278 | 1 | 360 | 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 | 292 | 0.0034 | 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 | a0001c0001t0001g0286 | 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 | a0001c0001t0006 | a0001c0001t0006g0201a0001c0001t0006g0202a0001c0001t0006g0203 | 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 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(98): 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 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0029a0001c0001t0002g0030a0001c0001t0002g0031others(4): Show | 7 | 292 | 0.0240 | 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 | a0001c0001t0001g0092a0001c0002t0001g0193a0001c0002t0001g0201 | 3 | 440 | 0.0068 | 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 | a0001c0001t0001g0028 | 1 | 440 | 0.0023 | 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 |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0017others(5): Show | a0001c0001t0001a0001c0007t0001a0001c0017t0009others(5): Show | a0001c0001t0001g0024a0001c0001t0001g0031a0001c0001t0001g0033others(10): Show | 13 | 440 | 0.0296 | 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 | a0001c0001t0011g0081 | 1 | 412 | 0.0024 | 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 | a0001c0001t0004g0293 | 1 | 412 | 0.0024 | 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 | a0001c0002t0009g0204 | 1 | 370 | 0.0027 | 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 | a0001c0001t0002g0026a0001c0001t0002g0253a0001c0001t0002g0256others(9): Show | 13 | 370 | 0.0351 | 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 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0062others(4): Show | 7 | 370 | 0.0189 | 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 | a0001c0001t0001g0009a0001c0001t0001g0053a0001c0001t0001g0142others(1): Show | 4 | 370 | 0.0108 | 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 | a0001c0001t0001g0123 | 1 | 370 | 0.0027 | 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 | a0001c0001t0001g0148 | 1 | 370 | 0.0027 | 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 | a0001c0001t0001g0131a0001c0001t0007g0140 | 2 | 370 | 0.0054 | 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 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0081others(1): Show | 4 | 370 | 0.0108 | 12 | c.-30 others(23): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar |