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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP1A4_chr1_160146603_160191980 | 160150980 | TTTTGTTT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00621.hp1 others(76): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0006others(16): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0056others(74): Show | 79 | 418 | 0.1890 | -16 | c.-10 others(27): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 622 | chr1 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160180694 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0004others(26): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(39): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0091others(183): Show | 191 | 418 | 0.4569 | -16 | c.273 others(33): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141874779 | CTTTTTTT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp2 HG02922.hp1 NA18960.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0269a0001c0001t0001g0272a0001c0001t0001g0292others(4): Show | 7 | 408 | 0.0172 | -16 | c.-20 others(27): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1863 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141885880 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG00423.hp2 NA18951.hp1 NA18955.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0284a0001c0001t0001g0285a0001c0001t0003g0013others(7): Show | 10 | 408 | 0.0245 | -16 | c.109 others(33): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2A1_chr16_28873488_28909466 | 28906200 | GAAGGGAC others(9): Show |
G | downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 380 | 0.0026 | -16 | c.*20 others(27): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 1735 | chr16 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110309140 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 228 | 0.0044 | -16 | c.463 others(35): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A3_chr17_3918873_3969437 | 3966363 | GTTTTTTT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02622.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0015 | a0001c0001t0001a0002c0015t0001 | a0001c0001t0001g0301a0001c0001t0001g0303a0001c0001t0001g0305others(1): Show | 4 | 332 | 0.0121 | -16 | c.-20 others(27): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1927 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677963 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245a0001c0001t0001g0308 | 2 | 332 | 0.0060 | -16 | c.-22 others(37): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677965 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01099.hp2 HG01361.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0017 | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0140others(15): Show | 18 | 332 | 0.0542 | -16 | c.-22 others(37): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10356074 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0012 | a0001c0012t0018 | a0001c0012t0018g0208 | 1 | 290 | 0.0035 | -16 | c.213 others(35): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 14/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488232 | CCTATCCA others(9): Show |
C | intron_variant | MODIFIER | HG00741.hp2 NA18970.hp1 NA19088.hp2 |
a0001 | a0001c0004a0001c0007a0001c0025 | a0001c0004t0002a0001c0007t0002a0001c0025t0001 | a0001c0004t0002g0118a0001c0007t0002g0117a0001c0025t0001g0101 | 3 | 290 | 0.0103 | -16 | c.-32 others(37): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488491 | CTTCCTTC others(9): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0048 | 1 | 290 | 0.0035 | -16 | c.-32 others(37): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624225 | AGAAAGAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02071.hp2 HG02083.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0006g0007 | 3 | 318 | 0.0094 | -16 | c.-34 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2606 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624241 | GGAAGGAA others(9): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02572.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0012a0001c0001t0014a0001c0006t0002 | a0001c0001t0012g0311a0001c0001t0014g0315a0001c0006t0002g0317 | 3 | 318 | 0.0094 | -16 | c.-34 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2590 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624245 | GGAAGGAA others(9): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02040.hp2 HG02074.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(7): Show | a0001c0001t0002g0175a0001c0001t0002g0238a0001c0001t0002g0242others(16): Show | 19 | 318 | 0.0598 | -16 | c.-34 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2586 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624249 | GGAAGGAA others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01978.hp1 HG02056.hp1 others(12): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0062a0001c0001t0001g0068a0001c0001t0001g0091others(12): Show | 15 | 318 | 0.0472 | -16 | c.-34 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2582 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624253 | GGAAAGAA others(9): Show |
G | upstream_gene_variant | MODIFIER | HG01934.hp2 HG03139.hp2 NA18957.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0002a0001c0001t0012a0001c0001t0036others(4): Show | a0001c0001t0002g0162a0001c0001t0012g0227a0001c0001t0036g0117others(4): Show | 7 | 318 | 0.0220 | -16 | c.-34 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2578 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624477 | GGGAAGAG others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01071.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0015a0001c0001t0028a0001c0001t0029others(8): Show | a0001c0001t0015g0031a0001c0001t0015g0034a0001c0001t0015g0035others(17): Show | 20 | 318 | 0.0629 | -16 | c.-32 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2354 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203626272 | GGTGTGTG others(9): Show |
G | upstream_gene_variant | MODIFIER | HG03540.hp2 NA18955.hp2 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0015 | a0001c0001t0002g0046a0001c0001t0006g0004a0001c0001t0015g0052 | 3 | 318 | 0.0094 | -16 | c.-14 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 559 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203672324 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0050others(1): Show | a0001c0001t0002g0308a0001c0001t0002g0309a0001c0001t0006g0085others(2): Show | 5 | 318 | 0.0157 | -16 | c.-46 others(37): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203703164 | CGAGAGAG others(9): Show |
C | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0115 | 1 | 318 | 0.0031 | -16 | c.938 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203723451 | TCTCTCTC others(9): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0011 | 1 | 318 | 0.0031 | -16 | c.302 others(33): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130902284 | GTTTTTTT others(9): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp2 others(70): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0008 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0092others(70): Show | 73 | 382 | 0.1911 | -16 | c.6+7 others(29): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130970369 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0081a0001c0001t0001g0082others(5): Show | 9 | 382 | 0.0236 | -16 | c.141 others(34): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP5F1C_chr10_7783177_7812801 | 7803237 | ATTTTTTA others(9): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(148): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(54): Show | 151 | 420 | 0.3595 | -16 | c.890 others(31): Show |
ATP5F1C | ENSG00000165629.20 | transcript | ENST00000356708.12 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATP5MC1_chr17_48887787_48900871 | 48888313 | CCTATCTA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01099.hp1 HG01981.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0004a0001c0001t0002g0015a0001c0001t0003g0003 | 23 | 334 | 0.0689 | -16 | c.-46 others(27): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 4473 | chr17 | TogoVar | ||||||
ATP5MGL_chr22_42634803_42645601 | 42640350 | CTTATTTA others(9): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0002c0003t0010 | a0001c0001t0010g0000a0002c0003t0010g0000 | 7 | 374 | 0.0187 | -16 | c.-92 others(23): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 77 | chr22 | TogoVar | |||||
ATP5PF_chr21_25719500_25739904 | 25730736 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG00735.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0042others(6): Show | 46 | 416 | 0.1106 | -16 | c.-7- others(29): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
ATP6V0A1_chr17_42453878_42527579 | 42482221 | ACTGCAGC others(9): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0063 | 5 | 320 | 0.0156 | -16 | c.717 others(31): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATP6V0A4_chr7_138701294_138803196 | 138708017 | TTTTATTT others(9): Show |
T | intron_variant | MODIFIER | HG02015.hp2 | a0003 | a0003c0022 | a0003c0022t0001 | a0003c0022t0001g0289 | 1 | 376 | 0.0027 | -16 | c.243 others(35): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718279 | GGTGTGTG others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0005a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(18): Show | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0028others(54): Show | 57 | 376 | 0.1516 | -16 | c.214 others(35): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138770258 | GGGAAGGA others(9): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02055.hp2 HG02280.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0004others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0349a0001c0001t0001g0365others(5): Show | 8 | 376 | 0.0213 | -16 | c.117 others(31): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 3/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138784253 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG01943.hp2 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173a0001c0001t0001g0363 | 2 | 376 | 0.0053 | -16 | c.-18 others(33): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
ATP6V0C_chr16_2508952_2525218 | 2520251 | GGGGCGGG others(9): Show |
G | downstream_gene_variant | MODIFIER | HG02647.hp1 HG03516.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0045 | 3 | 336 | 0.0089 | -16 | c.*50 others(25): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 34 | chr16 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 172981383 | GAGGAAGG others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02723.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 292 | 0.0069 | -16 | c.-24 others(27): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2387 | chr5 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 173032249 | TTTTATTT others(9): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0098 | 2 | 292 | 0.0069 | -16 | c.*37 others(33): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E2_chr7_149868969_149885695 | 149879136 | TCCCAGCA others(9): Show |
T | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 438 | 0.0023 | -16 | c.*20 others(31): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70945699 | GAGATATA others(9): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG02630.hp2 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0010a0002c0003t0001 | a0001c0001t0001g0043a0001c0001t0010g0023a0002c0003t0001g0321 | 3 | 440 | 0.0068 | -16 | c.174 others(33): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70945701 | GATATATA others(9): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03139.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0121a0001c0001t0001g0142a0001c0001t0001g0143others(2): Show | 5 | 440 | 0.0114 | -16 | c.174 others(33): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103056982 | CCGTCACT others(9): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0271 | 1 | 412 | 0.0024 | -16 | c.641 others(33): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 8/12 | chr8 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10719616 | TTGTTGTT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00642.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(7): Show | a0001c0001t0001g0265a0001c0001t0001g0266a0001c0001t0001g0279others(35): Show | 38 | 354 | 0.1073 | -16 | c.-21 others(27): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2013 | chr2 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10727047 | TCCTTCCT others(9): Show |
T | intron_variant | MODIFIER | NA18990.hp1 NA19084.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0208a0002c0002t0001g0209 | 2 | 354 | 0.0057 | -16 | c.197 others(31): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1E1_chr22_17587136_17633749 | 17631662 | GTGTGTGT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02922.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0315a0001c0001t0003g0316 | 2 | 370 | 0.0054 | -16 | c.-30 others(27): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2914 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631670 | GTATATAT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG03710.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0125 | 2 | 370 | 0.0054 | -16 | c.-30 others(27): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2922 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | ATTTTTTT others(9): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp1 HG03130.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021a0001c0001t0003g0195 | 3 | 370 | 0.0081 | -16 | c.-30 others(27): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46513193 | TCAGCCAG others(9): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00597.hp2 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0046others(69): Show | 77 | 410 | 0.1878 | -16 | c.-10 others(33): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46533203 | GTAGATAG others(9): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00639.hp1 others(64): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(58): Show | 67 | 410 | 0.1634 | -16 | c.-10 others(35): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1G2_chr6_31539444_31551608 | 31542550 | CTGTCCGA others(9): Show |
C | downstream_gene_variant | MODIFIER | NA18747.hp2 NA18975.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 435 | 0.0069 | -16 | c.*28 others(27): Show |
ATP6V1G2 | ENSG00000213760.11 | transcript | ENST00000303892.10 | protein_coding | 1893 | chr6 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755685 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG02165.hp1 HG02300.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0071a0001c0001t0001g0080a0001c0001t0001g0214others(1): Show | 4 | 286 | 0.0140 | -16 | c.127 others(33): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755732 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 286 | 0.0035 | -16 | c.127 others(33): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar |