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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP1B3_chr3_141871643_141931549 | 141890285 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG03130.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0076a0001c0001t0009g0077a0001c0001t0009g0078 | 3 | 408 | 0.0074 | -11 | c.110 others(30): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141906018 | GTAATACA others(4): Show |
G | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 408 | 0.0025 | -11 | c.239 others(28): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2A1_chr16_28873488_28909466 | 28882100 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 380 | 0.0026 | -11 | c.325 others(26): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2A1_chr16_28873488_28909466 | 28904434 | TTATTTAT others(4): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0127 | 1 | 380 | 0.0026 | -11 | c.*29 others(20): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 23/23 | 731 | chr16 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110293378 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 228 | 0.0044 | -11 | c.324 others(28): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110319223 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0008 | a0001c0008t0030 | a0001c0008t0030g0184 | 1 | 228 | 0.0044 | -11 | c.464 others(28): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110334586 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 |
a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0220a0001c0005t0009g0221 | 2 | 228 | 0.0088 | -11 | c.141 others(28): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A3_chr17_3918873_3969437 | 3966363 | GTTTTTTT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG02055.hp1 HG02080.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0039 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0214a0001c0001t0003g0205others(6): Show | 9 | 332 | 0.0271 | -11 | c.-20 others(22): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1927 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89583802 | GGGGGGGG others(4): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01261.hp1 others(5): Show |
a0001a0002 | a0001c0002a0002c0011 | a0001c0002t0001a0002c0011t0001 | a0001c0002t0001g0039a0001c0002t0001g0042a0001c0002t0001g0043others(5): Show | 8 | 332 | 0.0241 | -11 | c.*71 others(22): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 4246 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89628401 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02258.hp2 HG02486.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0143a0001c0001t0001g0153a0001c0001t0001g0258others(9): Show | 12 | 332 | 0.0361 | -11 | c.929 others(26): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 6/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89705758 | CAGAGAAC others(4): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 332 | 0.0030 | -11 | c.-22 others(30): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10321694 | ATCTATCT others(4): Show |
A | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0180 | 1 | 290 | 0.0035 | -11 | c.*71 others(22): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2328 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10321733 | TATCTATC others(4): Show |
T | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG01168.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0048others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0090others(26): Show | 29 | 290 | 0.1000 | -11 | c.*70 others(22): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2289 | chr3 | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153549012 | TCTGTCAG others(4): Show |
T | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0220 | 1 | 267 | 0.0038 | -11 | c.133 others(28): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 10/21 | chrX | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624253 | GGAAAGAA others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 318 | 0.0031 | -11 | c.-34 others(22): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2578 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203672324 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0005 | a0002c0005t0059 | a0002c0005t0059g0033 | 1 | 318 | 0.0031 | -11 | c.-46 others(32): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203672346 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00733.hp1 others(39): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0055a0001c0001t0001g0108a0001c0001t0001g0129others(39): Show | 42 | 318 | 0.1321 | -11 | c.-46 others(32): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203686685 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0001a0001c0011t0012a0001c0012t0032others(1): Show | a0001c0001t0001g0149a0001c0011t0012g0284a0001c0011t0012g0286others(2): Show | 5 | 318 | 0.0157 | -11 | c.193 others(28): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203704467 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0108a0001c0001t0004g0214a0001c0001t0004g0305others(5): Show | 8 | 318 | 0.0252 | -11 | c.109 others(28): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84390604 | TGAGTCGT others(4): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp2 |
a0001 | a0001c0029 | a0001c0029t0002 | a0001c0029t0002g0388a0001c0029t0002g0389 | 2 | 432 | 0.0046 | -11 | c.100 others(28): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84396549 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01433.hp2 HG01891.hp2 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0001t0003g0323a0001c0002t0002g0014a0001c0002t0002g0090others(28): Show | 31 | 432 | 0.0718 | -11 | c.100 others(28): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84397655 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0197 | 1 | 432 | 0.0023 | -11 | c.100 others(26): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84419208 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02300.hp1 others(2): Show |
a0002a0004a0008 | a0002c0047a0004c0013a0004c0027others(1): Show | a0002c0047t0001a0004c0013t0001a0004c0027t0001others(1): Show | a0002c0047t0001g0315a0004c0013t0001g0074a0004c0013t0001g0077others(2): Show | 5 | 432 | 0.0116 | -11 | c.625 others(28): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP5F1A_chr18_46075248_46103296 | 46081662 | AAAAAAAA others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01069.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0008a0001c0001t0013a0001c0001t0029others(11): Show | a0001c0001t0008g0006a0001c0001t0008g0151a0001c0001t0008g0154others(16): Show | 29 | 390 | 0.0744 | -11 | c.*26 others(22): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 12/12 | 2609 | chr18 | TogoVar | |||||
ATP5F1B_chr12_56633175_56650984 | 56638221 | AAGAATAT others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG02258.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 9 | 390 | 0.0231 | -11 | c.*91 others(19): Show |
ATP5F1B | ENSG00000110955.9 | transcript | ENST00000262030.8 | protein_coding | 10/10 | 91 | chr12 | TogoVar | |||||
ATP5F1B_chr12_56633175_56650984 | 56642283 | ACCACGCC others(4): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01123.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0012 | 18 | 390 | 0.0462 | -11 | c.107 others(28): Show |
ATP5F1B | ENSG00000110955.9 | transcript | ENST00000262030.8 | protein_coding | 7/9 | chr12 | TogoVar | ||||||
ATP5F1D_chr19_1236751_1249825 | 1246820 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 412 | 0.0024 | -11 | c.*23 others(22): Show |
ATP5F1D | ENSG00000099624.8 | transcript | ENST00000215375.7 | protein_coding | 1996 | chr19 | TogoVar | ||||||
ATP5IF1_chr1_28231124_28243100 | 28242779 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 360 | 0.0083 | -11 | c.*48 others(22): Show |
ATP5IF1 | ENSG00000130770.18 | transcript | ENST00000335514.10 | protein_coding | 4680 | chr1 | TogoVar | ||||||
ATP5MC3_chr2_175171258_175186710 | 175174742 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0029 | 1 | 390 | 0.0026 | -11 | c.*35 others(22): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 1515 | chr2 | TogoVar | ||||||
ATP5MF_chr7_99453195_99471167 | 99466717 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0015others(12): Show | 75 | 346 | 0.2168 | -11 | c.-58 others(20): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 551 | chr7 | TogoVar | ||||||
ATP5PF_chr21_25719500_25739904 | 25730736 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG02818.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0055others(1): Show | 7 | 416 | 0.0168 | -11 | c.-7- others(24): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
ATP6AP2_chrX_40575970_40611848 | 40602931 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG02895.hp1 NA18943.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0101a0001c0001t0001g0116 | 3 | 299 | 0.0100 | -11 | c.858 others(28): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | chrX | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718276 | GGCGGTGT others(4): Show |
G | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 376 | 0.0027 | -11 | c.214 others(30): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138723523 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(97): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0008others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0020a0001c0001t0001g0027a0001c0001t0001g0051others(97): Show | 100 | 376 | 0.2660 | -11 | c.201 others(30): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138727112 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0354 | 1 | 376 | 0.0027 | -11 | c.201 others(30): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/21 | chr7 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86149052 | GAAGAAAA others(4): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 360 | 0.0028 | -11 | c.640 others(28): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173032254 | TTTATTTA others(4): Show |
T | intron_variant | MODIFIER | HG03139.hp2 NA18906.hp1 NA18952.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104a0001c0001t0001g0148a0001c0001t0001g0154others(2): Show | 5 | 292 | 0.0171 | -11 | c.*37 others(28): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173038620 | TAGAAAAG others(4): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG03130.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0201a0001c0001t0006g0202a0001c0001t0006g0203 | 3 | 292 | 0.0103 | -11 | c.*42 others(22): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3176 | chr5 | TogoVar | ||||||
ATP6V0E2_chr7_149868969_149885695 | 149872075 | ATTTTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | -11 | c.-19 others(22): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 1893 | chr7 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113761004 | TTGCAGTG others(4): Show |
T | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 312 | 0.0032 | -11 | c.-14 others(30): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1B2_chr8_20192381_20226696 | 20201881 | AGTCCCAG others(4): Show |
A | intron_variant | MODIFIER | HG02165.hp2 NA18940.hp1 NA18985.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0164a0001c0001t0001g0165others(1): Show | 5 | 402 | 0.0124 | -11 | c.137 others(28): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103047452 | ACACACAC others(4): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 412 | 0.0024 | -11 | c.201 others(28): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10782829 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG03130.hp2 HG03471.hp1 others(3): Show |
a0002 | a0002c0002a0002c0004a0002c0005 | a0002c0002t0002a0002c0002t0008a0002c0002t0018others(2): Show | a0002c0002t0002g0011a0002c0002t0008g0242a0002c0002t0018g0078others(3): Show | 6 | 354 | 0.0170 | -11 | c.119 others(28): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1E1_chr22_17587136_17633749 | 17631698 | ATATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | 370 | 0.0054 | -11 | c.-30 others(22): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2950 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | ATTTTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205a0001c0001t0003g0206a0001c0001t0003g0319 | 3 | 370 | 0.0081 | -11 | c.-30 others(22): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46510478 | AAAAAAAA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp1 HG02109.hp1 HG02145.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0240a0001c0001t0001g0241a0001c0001t0001g0280others(9): Show | 14 | 410 | 0.0342 | -11 | c.*15 others(22): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 1368 | chr2 | TogoVar | ||||||
ATP6V1FNB_chr7_128861330_128877047 | 128875573 | TAAAAAAA others(4): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02647.hp2 others(1): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0002a0008c0009t0003 | a0001c0001t0002g0002a0001c0001t0002g0006a0008c0009t0003g0005 | 4 | 442 | 0.0091 | -11 | c.*67 others(22): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 3527 | chr7 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53750238 | AGTAATTG others(4): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 286 | 0.0035 | -11 | c.127 others(30): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755731 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | NA18983.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0185a0001c0001t0002g0131 | 2 | 286 | 0.0070 | -11 | c.127 others(28): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755733 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226a0001c0001t0001g0228 | 2 | 286 | 0.0070 | -11 | c.127 others(28): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar |