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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2B4_chr1_203621832_203749081 | 203723457 | T | TCCCTCC | intron_variant | MODIFIER | HG03471.hp1 NA19043.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0002t0031 | a0001c0001t0006g0085a0001c0001t0009g0148a0001c0002t0031g0029 | 3 | 318 | 0.0094 | 6 | c.302 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203745269 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(66): Show |
a0001a0006a0007 | a0001c0001a0001c0003a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0092a0001c0001t0001g0108a0001c0001t0001g0125others(66): Show | 69 | 318 | 0.2170 | 6 | c.*54 others(17): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1189 | chr1 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130940905 | A | ATTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01516.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0092others(4): Show | 7 | 382 | 0.0183 | 6 | c.422 others(21): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130941252 | G | GTGTGTC | intron_variant | MODIFIER | HG01099.hp2 HG01516.hp2 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0363a0001c0001t0001g0365others(1): Show | 4 | 382 | 0.0105 | 6 | c.423 others(21): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130970369 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(88): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0080others(87): Show | 91 | 382 | 0.2382 | 6 | c.141 others(25): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84424599 | T | TTTTTTA | intron_variant | MODIFIER | HG01167.hp2 HG01358.hp2 HG01361.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0001others(4): Show | a0001c0001t0002g0216a0001c0002t0002g0014a0001c0003t0001g0002others(5): Show | 8 | 432 | 0.0185 | 6 | c.920 others(23): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84463730 | T | TAGTGGA | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02109.hp1 others(3): Show |
a0001a0002 | a0001c0018a0001c0029a0002c0050 | a0001c0018t0002a0001c0029t0002a0002c0050t0002 | a0001c0018t0002g0006a0001c0018t0002g0012a0001c0018t0002g0046others(3): Show | 6 | 432 | 0.0139 | 6 | c.284 others(13): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 27/27 | 5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
ATP4A_chr19_35545031_35568658 | 35555986 | C | CTGACAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(307): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0023others(152): Show | 310 | 426 | 0.7277 | 6 | c.187 others(23): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 12/21 | chr19 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46092180 | A | AAATAAT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0023a0001c0001t0001g0060a0001c0001t0001g0066others(18): Show | 26 | 390 | 0.0667 | 6 | c.140 others(21): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46092617 | T | TTATATA | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG02922.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0015a0001c0001t0018a0001c0001t0103others(1): Show | a0001c0001t0015g0218a0001c0001t0018g0040a0001c0001t0018g0200others(2): Show | 6 | 390 | 0.0154 | 6 | c.140 others(21): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46094186 | C | CACACAT | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG03041.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0029a0001c0001t0084others(6): Show | a0001c0001t0002g0149a0001c0001t0029g0032a0001c0001t0084g0150others(7): Show | 11 | 390 | 0.0282 | 6 | c.139 others(21): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5F1B_chr12_56633175_56650984 | 56647717 | A | AACACAC | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01346.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 390 | 0.0103 | 6 | c.-17 others(17): Show |
ATP5F1B | ENSG00000110955.9 | transcript | ENST00000262030.8 | protein_coding | 1734 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53660854 | T | TCAACAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(42): Show | 87 | 418 | 0.2081 | 6 | c.*44 others(17): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4315 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CACATAT | intron_variant | MODIFIER | NA19067.hp1 NA19079.hp1 NA19082.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0198a0001c0001t0001g0210 | 4 | 418 | 0.0096 | 6 | c.311 others(23): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0016a0001c0001t0001g0049a0001c0001t0001g0050others(10): Show | 18 | 418 | 0.0431 | 6 | c.39+ others(19): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53678340 | T | TCACCAC | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01168.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0017others(23): Show | 41 | 418 | 0.0981 | 6 | c.-23 others(17): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2258 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53679238 | C | CGAGAGA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG01106.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(36): Show | 40 | 418 | 0.0957 | 6 | c.-32 others(17): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103924453 | T | TCACACA | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0002c0002t0001g0029a0002c0002t0001g0116 | 4 | 440 | 0.0091 | 6 | c.-29 others(17): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2925 | chr14 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111457312 | A | AACACAC | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01167.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0021a0001c0001t0003g0030a0001c0001t0003g0101others(4): Show | 11 | 434 | 0.0254 | 6 | c.513 others(21): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP5PF_chr21_25719500_25739904 | 25721978 | A | AAAAGAG | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02451.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020a0001c0001t0001g0035a0001c0001t0001g0054others(3): Show | 13 | 416 | 0.0313 | 6 | c.*26 others(17): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 2521 | chr21 | TogoVar | ||||||
ATP5PF_chr21_25719500_25739904 | 25730736 | C | CAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01071.hp2 HG01081.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0044a0001c0001t0001g0092others(1): Show | 7 | 416 | 0.0168 | 6 | c.-7- others(19): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
ATP5PO_chr21_33898453_33920804 | 33905918 | G | GAAAAAA | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01891.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0026others(5): Show | 18 | 436 | 0.0413 | 6 | c.441 others(23): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 5/6 | chr21 | TogoVar | ||||||
ATP6AP1_chrX_154423677_154441516 | 154425430 | G | GACCAGC | upstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 302 | 0.0033 | 6 | c.-32 others(17): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 3246 | chrX | TogoVar | ||||||
ATP6AP1_chrX_154423677_154441516 | 154428787 | T | TGGCGGC | disruptive_inframe_insertion | MODERATE | HG00642.hp1 HG01934.hp1 HG02109.hp1 others(18): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0002a0003c0004t0001a0003c0004t0002others(1): Show | a0002c0003t0002g0007a0002c0003t0002g0022a0002c0003t0002g0050others(8): Show | 21 | 302 | 0.0695 | 6 | c.111 others(13): Show |
p.Ala others(11): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 1/10 | 133/2054 | 117/1413 | 39/470 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ATP6AP1_chrX_154423677_154441516 | 154437181 | C | CGGCGGT | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 302 | 0.0033 | 6 | c.*12 others(17): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 666 | chrX | TogoVar | ||||||
ATP6AP2_chrX_40575970_40611848 | 40588334 | G | GCCCCAC | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 299 | 0.0033 | 6 | c.38- others(19): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP6AP2_chrX_40575970_40611848 | 40603355 | C | CAAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 NA18941.hp2 others(1): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0008 | a0001c0001t0003a0003c0004t0003a0005c0008t0002 | a0001c0001t0003g0045a0001c0001t0003g0046a0003c0004t0003g0193others(1): Show | 4 | 299 | 0.0134 | 6 | c.859 others(23): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP6V0A2_chr12_123707353_123766755 | 123717314 | C | CAAAAAA | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0004a0001c0001t0005a0001c0001t0019others(2): Show | a0001c0001t0004g0134a0001c0001t0005g0122a0001c0001t0005g0123others(3): Show | 6 | 222 | 0.0270 | 6 | c.118 others(23): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP6V0A2_chr12_123707353_123766755 | 123735142 | C | CGTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(98): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0005a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(82): Show | 101 | 222 | 0.4550 | 6 | c.732 others(21): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP6V0A4_chr7_138701294_138803196 | 138707310 | T | TTATTTA | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(90): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0007others(20): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(23): Show | a0001c0001t0001g0052a0001c0001t0001g0070a0001c0001t0001g0098others(90): Show | 93 | 376 | 0.2473 | 6 | c.243 others(23): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718103 | G | GGGAGTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(92): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0008others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0020a0001c0001t0001g0027a0001c0001t0001g0051others(92): Show | 95 | 376 | 0.2527 | 6 | c.214 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718105 | G | GAGTAGC | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01257.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(9): Show | a0001c0001t0001g0071a0001c0001t0001g0121a0001c0001t0002g0241others(18): Show | 21 | 376 | 0.0559 | 6 | c.214 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718149 | A | ATGGGGG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(58): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0007a0001c0014others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(16): Show | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0028others(58): Show | 61 | 376 | 0.1622 | 6 | c.214 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718201 | G | GGTGTGT | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG02040.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0007a0001c0007t0001others(6): Show | a0001c0001t0001g0120a0001c0001t0001g0127a0001c0001t0001g0314others(15): Show | 18 | 376 | 0.0479 | 6 | c.214 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138730341 | A | AGTGTGT | intron_variant | MODIFIER | HG01257.hp2 HG02027.hp1 HG02559.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0120a0001c0001t0001g0127a0001c0001t0001g0253others(10): Show | 13 | 376 | 0.0346 | 6 | c.190 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138730931 | C | CTTCTTT | intron_variant | MODIFIER | HG02129.hp2 HG02258.hp2 HG03130.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(4): Show | a0001c0001t0001g0180a0001c0001t0001g0253a0001c0001t0001g0271others(15): Show | 18 | 376 | 0.0479 | 6 | c.190 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138745958 | A | AATATAT | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp1 HG01106.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0047a0001c0001t0001g0192a0001c0001t0001g0209others(27): Show | 30 | 376 | 0.0798 | 6 | c.132 others(23): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138758739 | A | ATTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0051a0001c0001t0001g0058a0001c0001t0001g0087others(52): Show | 55 | 376 | 0.1463 | 6 | c.639 others(23): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 8/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138765735 | G | GGTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(9): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(11): Show | a0001c0001t0001g0024a0001c0001t0001g0047a0001c0001t0001g0052others(46): Show | 49 | 376 | 0.1303 | 6 | c.292 others(23): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 5/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138797210 | T | TTCTTTC | intron_variant | MODIFIER | HG01943.hp2 HG02622.hp2 HG02965.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0012a0001c0005t0002others(4): Show | a0001c0001t0001g0361a0001c0001t0001g0363a0001c0001t0012g0370others(5): Show | 8 | 376 | 0.0213 | 6 | c.-12 others(23): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138800677 | T | TTTCTTC | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02572.hp2 HG02615.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0029others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(9): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0034others(11): Show | 14 | 376 | 0.0372 | 6 | c.-27 others(17): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2482 | chr7 | TogoVar | ||||||
ATP6V0C_chr16_2508952_2525218 | 2517713 | T | TTGTGTG | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01099.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0055 | 16 | 336 | 0.0476 | 6 | c.80- others(21): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP6V0D1_chr16_67433019_67486157 | 67466326 | T | TACACAC | intron_variant | MODIFIER | HG01496.hp2 HG03098.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0073a0001c0001t0001g0130a0001c0001t0002g0046 | 3 | 174 | 0.0172 | 6 | c.131 others(25): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 1/7 | chr16 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86104850 | T | TACACAC | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02717.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0002c0002t0001a0004c0007t0004 | a0001c0001t0001g0324a0001c0001t0001g0325a0001c0001t0001g0326others(9): Show | 12 | 360 | 0.0333 | 6 | c.130 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86115358 | A | ATTTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01884.hp1 HG01993.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0125others(17): Show | 20 | 360 | 0.0556 | 6 | c.302 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86121604 | G | GGAGGAT | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00733.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0160others(31): Show | 34 | 360 | 0.0944 | 6 | c.302 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86126236 | C | CTATATA | intron_variant | MODIFIER | HG02040.hp1 HG02895.hp1 HG02897.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0052a0001c0001t0001g0069others(10): Show | 13 | 360 | 0.0361 | 6 | c.302 others(25): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86145235 | G | GAAAGAA | intron_variant | MODIFIER | HG01981.hp2 HG02559.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056a0001c0001t0002g0147a0001c0001t0002g0178others(1): Show | 4 | 360 | 0.0111 | 6 | c.639 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86145370 | G | GAAAGAA | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01069.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(26): Show | 31 | 360 | 0.0861 | 6 | c.639 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86149052 | G | GAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG02145.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0028a0001c0001t0001g0221a0001c0001t0001g0279others(2): Show | 5 | 360 | 0.0139 | 6 | c.640 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |