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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V0D2_chr8_86093910_86159225 | 86156929 | CTG | C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02630.hp1 others(4): Show |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0001a0007c0005t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0132others(4): Show | 7 | 360 | 0.0194 | -2 | c.*39 others(13): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2705 | chr8 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 172980845 | TAC | T | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02683.hp1 HG02723.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0197a0001c0001t0001g0204a0001c0001t0001g0205others(9): Show | 12 | 292 | 0.0411 | -2 | c.-30 others(13): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2925 | chr5 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 172984083 | CAG | C | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02145.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0006a0001c0001t0001g0270a0001c0001t0001g0271others(14): Show | 18 | 292 | 0.0616 | -2 | c.104 others(17): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 172994757 | ATT | A | splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02683.hp1 HG02723.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0006a0001c0001t0001g0137a0001c0001t0001g0227others(8): Show | 12 | 292 | 0.0411 | -2 | c.105 others(13): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 172998609 | TAA | T | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01243.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0046a0001c0001t0001g0180a0001c0001t0001g0197others(20): Show | 23 | 292 | 0.0788 | -2 | c.152 others(19): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173008910 | CAA | C | intron_variant | MODIFIER | HG00639.hp2 HG02647.hp1 HG02683.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010 | a0001c0001t0001g0126a0001c0001t0001g0206a0001c0001t0001g0207others(9): Show | 12 | 292 | 0.0411 | -2 | c.153 others(21): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173013574 | CAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01243.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0046a0001c0001t0001g0206a0001c0001t0001g0207others(18): Show | 21 | 292 | 0.0719 | -2 | c.153 others(19): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173014764 | CAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(97): Show | 103 | 292 | 0.3527 | -2 | c.153 others(19): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 173032255 | TTA | T | intron_variant | MODIFIER | HG01891.hp1 HG02129.hp1 HG02135.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0007a0001c0001t0001g0041a0001c0001t0001g0063others(12): Show | 15 | 292 | 0.0514 | -2 | c.*37 others(19): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E2_chr7_149868969_149885695 | 149881064 | GCA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(237): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0012others(46): Show | 240 | 438 | 0.5480 | -2 | c.*17 others(13): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 370 | chr7 | TogoVar | ||||||
ATP6V0E2_chr7_149868969_149885695 | 149883572 | CAA | C | downstream_gene_variant | MODIFIER | HG02698.hp1 HG03654.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0016 | 3 | 438 | 0.0069 | -2 | c.*42 others(13): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 2878 | chr7 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113746567 | TAA | T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG03098.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019 | a0001c0001t0007g0281a0001c0001t0007g0282a0001c0001t0019g0283 | 3 | 312 | 0.0096 | -2 | c.-55 others(11): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 467 | chr3 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113749263 | TCA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(134): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(121): Show | 137 | 312 | 0.4391 | -2 | c.-14 others(19): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113766272 | ATC | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(128): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0036a0001c0001t0001g0109a0001c0001t0001g0110others(116): Show | 131 | 312 | 0.4199 | -2 | c.-13 others(21): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113771429 | CTT | C | intron_variant | MODIFIER | HG01934.hp2 HG02148.hp1 HG02273.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0137a0001c0001t0004g0018a0001c0001t0006g0010others(4): Show | 8 | 312 | 0.0256 | -2 | c.-13 others(19): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113773051 | CCT | C | intron_variant | MODIFIER | HG02145.hp2 HG02698.hp2 HG02738.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0119a0001c0001t0003g0120a0001c0001t0003g0121others(9): Show | 12 | 312 | 0.0385 | -2 | c.-13 others(19): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113782524 | TTC | T | intron_variant | MODIFIER | HG01934.hp2 HG01952.hp1 HG02148.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010a0001c0001t0006g0138a0001c0001t0006g0139others(1): Show | 5 | 312 | 0.0160 | -2 | c.211 others(19): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113785864 | CTT | C | intron_variant | MODIFIER | HG01891.hp2 HG01934.hp2 HG01952.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0137a0001c0001t0006g0010a0001c0001t0006g0138others(5): Show | 9 | 312 | 0.0289 | -2 | c.565 others(17): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113791394 | GTT | G | intron_variant | MODIFIER | HG01934.hp2 HG01952.hp1 HG02148.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014 | a0001c0001t0006g0010a0001c0001t0006g0138a0001c0001t0006g0139others(2): Show | 6 | 312 | 0.0192 | -2 | c.988 others(19): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70934118 | CAT | C | upstream_gene_variant | MODIFIER | HG02572.hp2 HG03471.hp1 HG04184.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0123a0001c0002t0001g0187a0001c0005t0001g0184others(3): Show | 6 | 440 | 0.0136 | -2 | c.-18 others(13): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1781 | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70938194 | CAG | C | intron_variant | MODIFIER | HG01346.hp2 HG01433.hp1 HG02273.hp1 others(3): Show |
a0002 | a0002c0003a0002c0010 | a0002c0003t0001a0002c0010t0002 | a0002c0003t0001g0021a0002c0003t0001g0412a0002c0003t0001g0413others(2): Show | 6 | 440 | 0.0136 | -2 | c.118 others(19): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70943187 | TAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(232): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(211): Show | 235 | 440 | 0.5341 | -2 | c.119 others(17): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70943568 | GGA | G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp2 others(20): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0005t0001others(5): Show | a0001c0001t0001g0010a0001c0001t0001g0034a0001c0001t0001g0035others(19): Show | 23 | 440 | 0.0523 | -2 | c.119 others(15): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70945697 | AAG | A | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp2 HG01981.hp1 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0002c0011others(1): Show | a0001c0002t0001a0001c0005t0001a0002c0011t0007others(1): Show | a0001c0002t0001g0055a0001c0002t0001g0056a0001c0002t0001g0097others(5): Show | 8 | 440 | 0.0182 | -2 | c.174 others(19): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70945701 | GAT | G | intron_variant | MODIFIER | HG00621.hp1 HG01168.hp2 HG01169.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(6): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0001others(7): Show | a0001c0001t0001g0013a0001c0005t0001g0036a0002c0003t0001g0291others(26): Show | 31 | 440 | 0.0705 | -2 | c.174 others(19): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70957087 | CTT | C | intron_variant | MODIFIER | HG00408.hp1 HG02451.hp2 HG02717.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0123a0001c0001t0001g0142a0001c0001t0001g0143others(13): Show | 16 | 440 | 0.0364 | -2 | c.175 others(17): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70957250 | AAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(221): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(200): Show | 224 | 440 | 0.5091 | -2 | c.175 others(17): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70966412 | CAA | C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02109.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0013others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0007t0001others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0039a0001c0001t0001g0142others(16): Show | 21 | 440 | 0.0477 | -2 | c.*12 others(13): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 982 | chr2 | TogoVar | ||||||
ATP6V1B2_chr8_20192381_20226696 | 20192799 | TAA | T | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01515.hp2 HG01884.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0018others(8): Show | 13 | 402 | 0.0323 | -2 | c.-46 others(13): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 4581 | chr8 | TogoVar | ||||||
ATP6V1B2_chr8_20192381_20226696 | 20199604 | GTT | G | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG01070.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0030others(14): Show | 26 | 402 | 0.0647 | -2 | c.136 others(19): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1B2_chr8_20192381_20226696 | 20199994 | TTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(137): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(61): Show | 140 | 402 | 0.3483 | -2 | c.136 others(19): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103022145 | CAT | C | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0050a0001c0001t0004g0051a0001c0001t0004g0291others(2): Show | 7 | 412 | 0.0170 | -2 | c.-40 others(17): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 1/12 | chr8 | TogoVar | ||||||
ATP6V1C1_chr8_103016083_103078051 | 103029282 | TTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(182): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0037others(134): Show | 185 | 412 | 0.4490 | -2 | c.-40 others(19): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103032154 | TTG | T | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038a0001c0001t0003g0091a0001c0001t0003g0092others(3): Show | 7 | 412 | 0.0170 | -2 | c.-39 others(19): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103032904 | TTC | T | intron_variant | MODIFIER | HG01074.hp1 HG02257.hp2 NA19030.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0037 | a0001c0001t0005g0266a0001c0001t0005g0267a0001c0001t0005g0268others(2): Show | 5 | 412 | 0.0121 | -2 | c.-39 others(19): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103034569 | ATT | A | intron_variant | MODIFIER | HG01074.hp1 HG01975.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0228a0001c0001t0003g0198a0001c0001t0005g0266others(4): Show | 7 | 412 | 0.0170 | -2 | c.-39 others(19): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103047430 | GCA | G | intron_variant | MODIFIER | HG02486.hp2 HG02965.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0013a0001c0005t0034 | a0001c0001t0001g0130a0001c0001t0013g0086a0001c0001t0013g0087others(1): Show | 4 | 412 | 0.0097 | -2 | c.201 others(19): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103061275 | GGT | G | intron_variant | MODIFIER | HG02132.hp2 HG03209.hp1 NA18945.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0007a0001c0001t0030a0003c0007t0007 | a0001c0001t0007g0006a0001c0001t0007g0043a0001c0001t0007g0273others(6): Show | 13 | 412 | 0.0316 | -2 | c.642 others(19): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103062161 | GTT | G | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01099.hp1 others(23): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0005g0015a0001c0001t0005g0016a0001c0001t0005g0127others(13): Show | 26 | 412 | 0.0631 | -2 | c.642 others(17): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103066744 | CTA | C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038a0001c0001t0003g0091a0001c0001t0003g0092others(5): Show | 9 | 412 | 0.0218 | -2 | c.105 others(19): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10718916 | TTG | T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02280.hp1 HG02895.hp1 others(4): Show |
a0001a0002 | a0001c0016a0002c0005a0002c0009 | a0001c0016t0001a0002c0005t0001a0002c0005t0003others(3): Show | a0001c0016t0001g0156a0002c0005t0001g0116a0002c0005t0003g0154others(4): Show | 7 | 354 | 0.0198 | -2 | c.-28 others(13): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2713 | chr2 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10727389 | GAA | G | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01243.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0002g0212a0001c0001t0006g0101a0001c0001t0006g0102others(19): Show | 22 | 354 | 0.0622 | -2 | c.197 others(17): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10728962 | CAA | C | intron_variant | MODIFIER | HG01070.hp2 HG01167.hp2 HG02109.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0004a0001c0001t0016a0002c0002t0001others(4): Show | a0001c0001t0004g0097a0001c0001t0016g0220a0002c0002t0001g0096others(4): Show | 7 | 354 | 0.0198 | -2 | c.197 others(19): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10730606 | GGT | G | intron_variant | MODIFIER | HG03041.hp2 HG03486.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0101a0001c0001t0006g0102a0001c0001t0006g0104 | 3 | 354 | 0.0085 | -2 | c.197 others(19): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | chr2 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10730607 | GTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(127): Show |
a0001a0002a0007 | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(125): Show | 130 | 354 | 0.3672 | -2 | c.197 others(19): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10730653 | CTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(88): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0015a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(18): Show | a0001c0001t0001g0067a0001c0001t0001g0079a0001c0001t0001g0153others(87): Show | 91 | 354 | 0.2571 | -2 | c.197 others(19): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10735598 | TTC | T | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02622.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0004a0002c0002t0007others(1): Show | a0001c0001t0006g0101a0001c0001t0006g0102a0001c0001t0006g0104others(4): Show | 7 | 354 | 0.0198 | -2 | c.197 others(19): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10736801 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(135): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0015others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0025a0001c0001t0001g0079a0001c0001t0001g0113others(134): Show | 138 | 354 | 0.3898 | -2 | c.197 others(21): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10737260 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(333): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0016others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(330): Show | 336 | 354 | 0.9492 | -2 | c.197 others(21): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10741434 | AAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(345): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0015others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(44): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(342): Show | 348 | 354 | 0.9831 | -2 | c.198 others(21): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |