| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP5F1A_chr18_46075248_46103296 | 46075790 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0001t0014a0001c0001t0015others(25): Show | a0001c0001t0003g0003a0001c0001t0003g0047a0001c0001t0003g0232others(40): Show | 61 | 390 | 0.1564 | 5 | c.*84 others(16): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 4457 | chr18 | TogoVar | ||||||
| ATP5F1A_chr18_46075248_46103296 | 46096982 | C | CAAAAA | intron_variant | MODIFIER | HG02004.hp2 HG02129.hp2 HG02132.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0125a0001c0001t0126a0001c0002t0010others(2): Show | a0001c0001t0125g0210a0001c0001t0126g0211a0001c0002t0010g0042others(4): Show | 8 | 390 | 0.0205 | 5 | c.60+ others(20): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
| ATP5IF1_chr1_28231124_28243100 | 28234140 | G | GGTTTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(103): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0006others(5): Show | 106 | 360 | 0.2944 | 5 | c.-20 others(16): Show |
ATP5IF1 | ENSG00000130770.18 | transcript | ENST00000335514.10 | protein_coding | 1983 | chr1 | TogoVar | ||||||
| ATP5MC1_chr17_48887787_48900871 | 48890144 | A | AAAAAG | upstream_gene_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG01069.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0004a0001c0001t0003g0003a0001c0001t0003g0009 | 25 | 334 | 0.0749 | 5 | c.-27 others(16): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 2642 | chr17 | TogoVar | ||||||
| ATP5MC1_chr17_48887787_48900871 | 48892381 | G | GCCCCC | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01346.hp2 HG01433.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0004 | 16 | 334 | 0.0479 | 5 | c.-53 others(14): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 405 | chr17 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53666762 | A | AAAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00597.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0011others(18): Show | 54 | 418 | 0.1292 | 5 | c.312 others(22): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02109.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0029a0001c0001t0001g0030others(25): Show | 40 | 418 | 0.0957 | 5 | c.39+ others(18): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| ATP5MC3_chr2_175171258_175186710 | 175176365 | T | TAGTAC | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(44): Show | 382 | 390 | 0.9795 | 5 | c.*19 others(16): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 5/5 | 1922 | chr2 | TogoVar | |||||
| ATP5MJ_chr14_103907288_103926529 | 103920129 | C | CTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00621.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0178a0002c0002t0001g0015a0002c0002t0001g0043others(7): Show | 15 | 440 | 0.0341 | 5 | c.-1+ others(20): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
| ATP5MJ_chr14_103907288_103926529 | 103922347 | A | ATATAT | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01358.hp1 HG02015.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0014others(5): Show | 15 | 440 | 0.0341 | 5 | c.-87 others(14): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 819 | chr14 | TogoVar | ||||||
| ATP5MJ_chr14_103907288_103926529 | 103922347 | A | ATATTT | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02071.hp1 HG02080.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0143others(3): Show | 12 | 440 | 0.0273 | 5 | c.-87 others(14): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 819 | chr14 | TogoVar | ||||||
| ATP5MJ_chr14_103907288_103926529 | 103922348 | T | TATATA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01515.hp2 HG01517.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0024others(10): Show | 16 | 440 | 0.0364 | 5 | c.-88 others(14): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 820 | chr14 | TogoVar | ||||||
| ATP5PF_chr21_25719500_25739904 | 25730736 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG01069.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0091a0001c0001t0001g0109others(3): Show | 9 | 416 | 0.0216 | 5 | c.-7- others(18): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
| ATP5PF_chr21_25719500_25739904 | 25732985 | C | CAAAAA | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0138a0001c0001t0001g0178a0001c0001t0002g0014 | 7 | 416 | 0.0168 | 5 | c.-8+ others(20): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
| ATP6AP1_chrX_154423677_154441516 | 154425927 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02109.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0003a0001c0001t0002g0046a0002c0003t0002g0007others(3): Show | 10 | 302 | 0.0331 | 5 | c.-27 others(16): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 2749 | chrX | TogoVar | ||||||
| ATP6AP1_chrX_154423677_154441516 | 154436850 | C | CGCGGG | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 302 | 0.0033 | 5 | c.*95 others(14): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 335 | chrX | TogoVar | ||||||
| ATP6AP2_chrX_40575970_40611848 | 40576955 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0077 | 2 | 299 | 0.0067 | 5 | c.-41 others(16): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 4014 | chrX | TogoVar | ||||||
| ATP6AP2_chrX_40575970_40611848 | 40578707 | G | GGTTTA | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 299 | 0.0033 | 5 | c.-23 others(16): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 2262 | chrX | TogoVar | ||||||
| ATP6AP2_chrX_40575970_40611848 | 40588334 | G | GCCCCA | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 299 | 0.0033 | 5 | c.38- others(18): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP6AP2_chrX_40575970_40611848 | 40603355 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp1 others(50): Show |
a0001a0003a0006 | a0001c0002a0003c0004a0006c0009 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(3): Show | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0015others(35): Show | 53 | 299 | 0.1773 | 5 | c.859 others(22): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP6AP2_chrX_40575970_40611848 | 40603704 | C | CTCCAA | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 299 | 0.0033 | 5 | c.859 others(22): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP6AP2_chrX_40575970_40611848 | 40608797 | T | TTTTTA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp1 others(66): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0003a0001c0006others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(6): Show | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0015others(49): Show | 69 | 299 | 0.2308 | 5 | c.*30 others(16): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1950 | chrX | TogoVar | ||||||
| ATP6V0A1_chr17_42453878_42527579 | 42468843 | C | CTATTT | intron_variant | MODIFIER | HG00642.hp1 HG01361.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0027a0001c0001t0001g0148a0001c0001t0001g0149others(5): Show | 8 | 320 | 0.0250 | 5 | c.294 others(20): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ATP6V0A1_chr17_42453878_42527579 | 42485539 | G | GTTTGT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00642.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0019others(56): Show | 67 | 320 | 0.2094 | 5 | c.811 others(22): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ATP6V0A2_chr12_123707353_123766755 | 123717314 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01256.hp2 HG02145.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0032a0001c0001t0003g0033a0001c0001t0003g0034others(17): Show | 20 | 222 | 0.0901 | 5 | c.118 others(22): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP6V0A2_chr12_123707353_123766755 | 123721190 | G | GTGTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(129): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(114): Show | 132 | 222 | 0.5946 | 5 | c.197 others(22): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP6V0A2_chr12_123707353_123766755 | 123765585 | T | TATCTA | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02486.hp1 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0006a0002c0004t0007 | a0002c0004t0006g0005a0002c0004t0006g0186a0002c0004t0007g0179others(3): Show | 7 | 222 | 0.0315 | 5 | c.*75 others(16): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3831 | chr12 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138710192 | A | ATTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01069.hp2 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(7): Show | a0001c0001t0001g0342a0001c0001t0003g0102a0001c0001t0003g0138others(13): Show | 16 | 376 | 0.0426 | 5 | c.225 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 20/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138742900 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0070a0001c0001t0001g0075a0001c0001t0001g0121others(29): Show | 32 | 376 | 0.0851 | 5 | c.147 others(24): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 14/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138745960 | A | ATATAT | intron_variant | MODIFIER | HG03579.hp2 NA19058.hp2 NA19067.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0001 | a0001c0001t0001g0027a0002c0002t0001g0291a0002c0003t0001g0066 | 3 | 376 | 0.0080 | 5 | c.132 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138758739 | A | ATTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01106.hp1 HG01109.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0134a0001c0001t0001g0142others(13): Show | 16 | 376 | 0.0426 | 5 | c.639 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 8/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138760444 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0005a0001c0014a0002c0002others(4): Show | a0001c0005t0004a0001c0014t0001a0001c0014t0004others(6): Show | a0001c0005t0004g0177a0001c0014t0001g0094a0001c0014t0004g0095others(10): Show | 13 | 376 | 0.0346 | 5 | c.513 others(20): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 7/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138777631 | A | ATACAC | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG01884.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(17): Show | a0001c0001t0001g0010a0001c0001t0001g0033a0001c0001t0001g0062others(24): Show | 27 | 376 | 0.0718 | 5 | c.-17 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138797211 | T | TCTTTC | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01074.hp1 others(30): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(14): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0024others(30): Show | 33 | 376 | 0.0878 | 5 | c.-12 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
| ATP6V0D2_chr8_86093910_86159225 | 86096193 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01081.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(22): Show | 27 | 360 | 0.0750 | 5 | c.-27 others(16): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2716 | chr8 | TogoVar | ||||||
| ATP6V0D2_chr8_86093910_86159225 | 86102334 | A | AAGGGC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(144): Show |
a0001a0002a0006 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(141): Show | 147 | 360 | 0.4083 | 5 | c.130 others(22): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V0D2_chr8_86093910_86159225 | 86114679 | A | ATAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(145): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(141): Show | 148 | 360 | 0.4111 | 5 | c.302 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V0D2_chr8_86093910_86159225 | 86115358 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG01346.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0042a0001c0001t0001g0116a0001c0001t0001g0123others(31): Show | 34 | 360 | 0.0944 | 5 | c.302 others(22): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V0D2_chr8_86093910_86159225 | 86118026 | C | CTTTCT | intron_variant | MODIFIER | HG01981.hp1 HG03579.hp1 NA18979.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0119a0001c0001t0001g0165a0001c0001t0001g0230others(2): Show | 5 | 360 | 0.0139 | 5 | c.302 others(22): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V0D2_chr8_86093910_86159225 | 86145374 | G | GAAAGA | intron_variant | MODIFIER | HG01981.hp2 HG02559.hp2 HG02922.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147a0001c0001t0002g0171a0001c0001t0002g0177others(6): Show | 9 | 360 | 0.0250 | 5 | c.639 others(22): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V0D2_chr8_86093910_86159225 | 86149052 | G | GAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0052a0001c0001t0001g0090others(33): Show | 36 | 360 | 0.1000 | 5 | c.640 others(22): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V0D2_chr8_86093910_86159225 | 86153753 | T | TTTTTG | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00673.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0056a0001c0001t0002g0099a0001c0001t0002g0100others(77): Show | 80 | 360 | 0.2222 | 5 | c.*79 others(14): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 8/8 | 800 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
| ATP6V0E1_chr5_172978771_173040445 | 173032238 | C | CTTTTA | intron_variant | MODIFIER | HG02451.hp1 HG02738.hp1 HG02895.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0099a0001c0001t0001g0109a0001c0001t0001g0139others(7): Show | 10 | 292 | 0.0343 | 5 | c.*37 others(22): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ATP6V0E2_chr7_149868969_149885695 | 149877563 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(6): Show | a0001c0001t0002g0003a0001c0001t0002g0014a0001c0001t0002g0021others(11): Show | 90 | 438 | 0.2055 | 5 | c.153 others(22): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ATP6V1B1_chr2_70930900_70970431 | 70950932 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG02717.hp2 HG03471.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0123a0001c0001t0001g0143a0001c0005t0001g0184others(7): Show | 10 | 440 | 0.0227 | 5 | c.175 others(22): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ATP6V1B1_chr2_70930900_70970431 | 70964114 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01243.hp1 HG01261.hp2 others(31): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0001c0034others(5): Show | a0001c0002t0001a0001c0005t0001a0001c0034t0001others(5): Show | a0001c0002t0001g0005a0001c0002t0001g0011a0001c0002t0001g0014others(27): Show | 34 | 440 | 0.0773 | 5 | c.114 others(22): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ATP6V1B1_chr2_70930900_70970431 | 70968945 | A | AGTTTT | downstream_gene_variant | MODIFIER | HG02071.hp1 HG02071.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0123a0001c0002t0001g0159a0001c0005t0001g0196 | 3 | 440 | 0.0068 | 5 | c.*38 others(16): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 3515 | chr2 | TogoVar | ||||||
| ATP6V1C1_chr8_103016083_103078051 | 103047464 | A | ACACAT | intron_variant | MODIFIER | HG01071.hp1 HG01099.hp2 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0142a0001c0001t0002g0155a0001c0001t0002g0156others(2): Show | 5 | 412 | 0.0121 | 5 | c.201 others(22): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
| ATP6V1C2_chr2_10716630_10790110 | 10719622 | T | TTTTGG | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(132): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0016others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(19): Show | a0001c0001t0001g0112a0001c0001t0001g0144a0001c0001t0001g0153others(131): Show | 135 | 354 | 0.3814 | 5 | c.-21 others(16): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2007 | chr2 | TogoVar | ||||||
| ATP6V1C2_chr2_10716630_10790110 | 10732967 | C | CAAAAA | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02622.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0006a0002c0002t0007a0002c0002t0010others(1): Show | a0001c0001t0006g0101a0001c0001t0006g0102a0001c0001t0006g0104others(4): Show | 7 | 354 | 0.0198 | 5 | c.197 others(22): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |