| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP5F1D_chr19_1236751_1249825 | 1246820 | C | CTTTT | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02074.hp2 HG02451.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0003 | 10 | 412 | 0.0243 | 4 | c.*23 others(15): Show |
ATP5F1D | ENSG00000099624.8 | transcript | ENST00000215375.7 | protein_coding | 1996 | chr19 | TogoVar | ||||||
| ATP5F1E_chr20_59020475_59037335 | 59022004 | T | TAAAC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00733.hp1 others(35): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0003 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(3): Show | 38 | 404 | 0.0941 | 4 | c.*68 others(15): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 3470 | chr20 | TogoVar | ||||||
| ATP5F1E_chr20_59020475_59037335 | 59022008 | T | TAAAC | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02486.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0022 | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0020others(5): Show | 11 | 404 | 0.0272 | 4 | c.*68 others(15): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 3466 | chr20 | TogoVar | ||||||
| ATP5IF1_chr1_28231124_28243100 | 28233499 | T | TTACA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(103): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0006others(5): Show | 106 | 360 | 0.2944 | 4 | c.-26 others(15): Show |
ATP5IF1 | ENSG00000130770.18 | transcript | ENST00000335514.10 | protein_coding | 2624 | chr1 | TogoVar | ||||||
| ATP5MC1_chr17_48887787_48900871 | 48892381 | G | GCCCC | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG02056.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0010 | 22 | 334 | 0.0659 | 4 | c.-53 others(13): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 405 | chr17 | TogoVar | ||||||
| ATP5MC1_chr17_48887787_48900871 | 48892389 | C | CCCCG | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG01123.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0012others(1): Show | 34 | 334 | 0.1018 | 4 | c.-53 others(13): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 397 | chr17 | TogoVar | ||||||
| ATP5MC1_chr17_48887787_48900871 | 48899309 | G | GGGGT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00621.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0018 | 26 | 334 | 0.0778 | 4 | c.*35 others(15): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3439 | chr17 | TogoVar | ||||||
| ATP5MC1_chr17_48887787_48900871 | 48899534 | C | CAAAA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00639.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 18 | 334 | 0.0539 | 4 | c.*37 others(15): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3664 | chr17 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53664344 | A | AAAAT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00621.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(46): Show | 66 | 418 | 0.1579 | 4 | c.*96 others(13): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 825 | chr12 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53667950 | C | CACAT | intron_variant | MODIFIER | NA18971.hp1 NA19002.hp1 NA19007.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0199 | 4 | 418 | 0.0096 | 4 | c.311 others(21): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53667950 | C | CATAT | intron_variant | MODIFIER | HG02970.hp2 HG02976.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 3 | 418 | 0.0072 | 4 | c.311 others(21): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CATAT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01074.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0232a0001c0001t0001g0238 | 7 | 418 | 0.0168 | 4 | c.311 others(21): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53673319 | A | AAAAC | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(177): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(100): Show | 180 | 418 | 0.4306 | 4 | c.-31 others(19): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53679238 | C | CGAGA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(37): Show | 52 | 418 | 0.1244 | 4 | c.-32 others(15): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar | ||||||
| ATP5MC3_chr2_175171258_175186710 | 175175077 | G | GTAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(45): Show | 382 | 390 | 0.9795 | 4 | c.*32 others(15): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 1180 | chr2 | TogoVar | ||||||
| ATP5ME_chr4_667436_679276 | 669036 | C | CTATT | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01261.hp1 HG01358.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 5 | 394 | 0.0127 | 4 | c.*34 others(15): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3399 | chr4 | TogoVar | ||||||
| ATP5ME_chr4_667436_679276 | 669203 | C | CTATT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG00741.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(7): Show | 65 | 394 | 0.1650 | 4 | c.*32 others(15): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3232 | chr4 | TogoVar | ||||||
| ATP5MF_chr7_99453195_99471167 | 99467038 | T | TTTAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(116): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0015others(33): Show | 119 | 346 | 0.3439 | 4 | c.-89 others(13): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 872 | chr7 | TogoVar | ||||||
| ATP5MF_chr7_99453195_99471167 | 99467045 | A | AATTT | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG01891.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0002g0014a0001c0001t0002g0022others(2): Show | 11 | 346 | 0.0318 | 4 | c.-90 others(13): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 879 | chr7 | TogoVar | ||||||
| ATP5MF_chr7_99453195_99471167 | 99470132 | T | TAAAC | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0081a0001c0001t0003g0007 | 5 | 346 | 0.0145 | 4 | c.-39 others(15): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 3966 | chr7 | TogoVar | ||||||
| ATP5MGL_chr22_42634803_42645601 | 42638728 | T | TAAAA | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0016a0002c0003t0010 | a0001c0002t0016g0000a0002c0003t0010g0000 | 7 | 374 | 0.0187 | 4 | c.*12 others(15): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1074 | chr22 | TogoVar | ||||||
| ATP5MGL_chr22_42634803_42645601 | 42640350 | C | CTTAT | 5_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0000 | 6 | 374 | 0.0160 | 4 | c.-80 others(11): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 77 | chr22 | TogoVar | |||||
| ATP5MJ_chr14_103907288_103926529 | 103922634 | C | CAAAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(31): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0017others(22): Show | 34 | 440 | 0.0773 | 4 | c.-11 others(15): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1106 | chr14 | TogoVar | ||||||
| ATP5MJ_chr14_103907288_103926529 | 103924453 | T | TCACA | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01346.hp2 HG01496.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0018others(9): Show | 14 | 440 | 0.0318 | 4 | c.-29 others(15): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2925 | chr14 | TogoVar | ||||||
| ATP5PB_chr1_111444464_111467773 | 111457312 | A | AACAC | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00741.hp2 others(51): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0109a0001c0001t0003g0004a0001c0001t0003g0011others(14): Show | 54 | 434 | 0.1244 | 4 | c.513 others(19): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP5PB_chr1_111444464_111467773 | 111463993 | A | AGTGG | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 3 | 434 | 0.0069 | 4 | c.*29 others(15): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 1221 | chr1 | TogoVar | ||||||
| ATP5PF_chr21_25719500_25739904 | 25721978 | A | AAGAG | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02055.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0047a0001c0001t0001g0049others(7): Show | 20 | 416 | 0.0481 | 4 | c.*26 others(15): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 2521 | chr21 | TogoVar | ||||||
| ATP5PF_chr21_25719500_25739904 | 25730736 | C | CAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG00673.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0063a0001c0001t0001g0084others(4): Show | 15 | 416 | 0.0361 | 4 | c.-7- others(17): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
| ATP5PO_chr21_33898453_33920804 | 33908169 | C | CAAAA | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0044a0001c0001t0001g0112 | 6 | 436 | 0.0138 | 4 | c.329 others(19): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 4/6 | chr21 | TogoVar | ||||||
| ATP5PO_chr21_33898453_33920804 | 33911662 | G | GTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG02109.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0053a0001c0001t0001g0156a0001c0001t0001g0157others(2): Show | 6 | 436 | 0.0138 | 4 | c.198 others(19): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 3/6 | chr21 | TogoVar | ||||||
| ATP6AP1_chrX_154423677_154441516 | 154425927 | G | GTTTT | upstream_gene_variant | MODIFIER | HG00642.hp1 HG02451.hp2 HG02615.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0003a0002c0003t0002g0007a0002c0003t0002g0022 | 13 | 302 | 0.0431 | 4 | c.-27 others(15): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 2749 | chrX | TogoVar | ||||||
| ATP6AP2_chrX_40575970_40611848 | 40577711 | A | ACCAC | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 299 | 0.0033 | 4 | c.-33 others(15): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 3258 | chrX | TogoVar | ||||||
| ATP6AP2_chrX_40575970_40611848 | 40588334 | G | GCCCC | intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 299 | 0.0033 | 4 | c.38- others(17): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP6AP2_chrX_40575970_40611848 | 40588335 | C | CCCCA | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 299 | 0.0033 | 4 | c.38- others(17): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP6AP2_chrX_40575970_40611848 | 40588704 | T | TTTTG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(269): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(176): Show | 272 | 299 | 0.9097 | 4 | c.38- others(17): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP6AP2_chrX_40575970_40611848 | 40588712 | G | GTTTT | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 299 | 0.0033 | 4 | c.38- others(17): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP6AP2_chrX_40575970_40611848 | 40603355 | C | CAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01256.hp1 HG01496.hp1 others(12): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0002a0001c0002t0003a0001c0003t0003others(1): Show | a0001c0002t0002g0154a0001c0002t0002g0162a0001c0002t0002g0171others(10): Show | 15 | 299 | 0.0502 | 4 | c.859 others(21): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP6AP2_chrX_40575970_40611848 | 40604980 | C | CTGGA | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp1 others(69): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0001t0003g0045a0001c0001t0003g0046a0001c0002t0002g0005others(52): Show | 72 | 299 | 0.2408 | 4 | c.859 others(19): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP6V0A1_chr17_42453878_42527579 | 42462998 | C | CTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01106.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0040a0001c0001t0001g0044a0001c0001t0001g0045others(8): Show | 11 | 320 | 0.0344 | 4 | c.117 others(21): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ATP6V0A1_chr17_42453878_42527579 | 42502494 | G | GCACA | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0029a0001c0001t0003g0034a0001c0001t0006g0004others(3): Show | 8 | 320 | 0.0250 | 4 | c.200 others(23): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ATP6V0A2_chr12_123707353_123766755 | 123708040 | T | TCTCA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(122): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0020others(107): Show | 125 | 222 | 0.5631 | 4 | c.-45 others(15): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 4312 | chr12 | TogoVar | ||||||
| ATP6V0A2_chr12_123707353_123766755 | 123712061 | T | TCACA | upstream_gene_variant | MODIFIER | HG02970.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0030 | a0001c0001t0017g0044a0001c0001t0030g0043 | 2 | 222 | 0.0090 | 4 | c.-50 others(13): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 291 | chr12 | TogoVar | ||||||
| ATP6V0A2_chr12_123707353_123766755 | 123717314 | C | CAAAA | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029 | a0001c0001t0005g0039a0001c0001t0005g0041a0001c0001t0005g0042others(2): Show | 5 | 222 | 0.0225 | 4 | c.118 others(21): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP6V0A2_chr12_123707353_123766755 | 123729322 | G | GTTTT | intron_variant | MODIFIER | HG01346.hp1 HG01975.hp1 HG01978.hp2 others(9): Show |
a0002 | a0002c0004 | a0002c0004t0006a0002c0004t0007 | a0002c0004t0006g0005a0002c0004t0006g0017a0002c0004t0006g0186others(6): Show | 12 | 222 | 0.0541 | 4 | c.648 others(21): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP6V0A2_chr12_123707353_123766755 | 123735142 | C | CGTGT | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01884.hp1 others(20): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0051a0001c0001t0004g0134others(19): Show | 23 | 222 | 0.1036 | 4 | c.732 others(19): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP6V0A2_chr12_123707353_123766755 | 123740145 | A | AAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(97): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(85): Show | 100 | 222 | 0.4505 | 4 | c.103 others(23): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP6V0A2_chr12_123707353_123766755 | 123765564 | T | TTATC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(13): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0034others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0024a0001c0001t0001g0072others(13): Show | 16 | 222 | 0.0721 | 4 | c.*75 others(15): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3810 | chr12 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138704602 | C | CAAAA | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01175.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0012a0001c0005t0003others(2): Show | a0001c0001t0003g0102a0001c0001t0003g0138a0001c0001t0003g0327others(5): Show | 8 | 376 | 0.0213 | 4 | c.*20 others(15): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 1691 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138707068 | A | ATGTG | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02451.hp2 others(6): Show |
a0001a0003a0007 | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0014a0001c0005t0002others(4): Show | a0001c0001t0002g0030a0001c0001t0014g0376a0001c0005t0002g0043others(6): Show | 9 | 376 | 0.0239 | 4 | c.243 others(21): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138708017 | T | TTTTA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0092others(46): Show | 49 | 376 | 0.1303 | 4 | c.243 others(23): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar |