view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 203672324 | C | CTTTTTT | intron_variant | MODIFIER | HG01258.hp2 HG02056.hp2 HG03710.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0062 a0001c0001t0003g0001 others(2): Show |
6 | 101 | 0.0594 | 6 | c.-46 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01168.hp1 HG01168.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0092 a0001c0001t0001g0117 a0001c0001t0002g0268 others(12): Show |
15 | 47 | 0.3191 | 6 | c.193 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203687994 | G | GATGATT | intron_variant | MODIFIER | HG01071.hp2 HG02258.hp2 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0068 a0001c0001t0001g0154 a0001c0001t0002g0051 others(7): Show |
10 | 79 | 0.1266 | 6 | c.193 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203703164 | C | CGAGAGA | intron_variant | MODIFIER | HG02451.hp1 HG03195.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0117 a0001c0002t0008g0248 a0001c0002t0008g0312 others(1): Show |
4 | 81 | 0.0494 | 6 | c.938 others(21): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203719325 | A | ATTGCCT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(121): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 others(121): Show |
124 | 316 | 0.3924 | 6 | c.240 others(25): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203723420 | A | ATCTCTC | intron_variant | MODIFIER | HG00621.hp2 HG02135.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0079 a0001c0001t0001g0110 a0001c0001t0003g0160 others(5): Show |
8 | 204 | 0.0392 | 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 | 203723457 | T | TCCCTCC | intron_variant | MODIFIER | HG03471.hp1 NA19043.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0002t0031 | a0001c0001t0006g0085 a0001c0001t0009g0149 a0001c0002t0031g0036 |
3 | 226 | 0.0133 | 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 |
a0001a0005a0009 | a0001c0001a0001c0003a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0126 others(66): Show |
69 | 144 | 0.4792 | 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 | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 others(4): Show |
7 | 179 | 0.0391 | 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 | a0001c0001t0001g0154 a0001c0001t0001g0368 a0001c0001t0001g0369 others(1): Show |
4 | 336 | 0.0119 | 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(87): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(85): Show |
90 | 160 | 0.5625 | 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 | a0001c0001t0002g0217 a0001c0002t0002g0016 a0001c0003t0001g0003 others(5): Show |
8 | 371 | 0.0216 | 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 | a0001c0018t0004a0001c0029t0004a0002c0050t0004 | a0001c0018t0004g0007 a0001c0018t0004g0013 a0001c0018t0004g0047 others(3): Show |
6 | 430 | 0.0140 | 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(306): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0023 others(147): Show |
309 | 424 | 0.7288 | 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 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0054 others(14): Show |
26 | 74 | 0.3514 | 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 | a0001c0001t0014a0001c0001t0017a0001c0001t0112others(1): Show | a0001c0001t0014g0193 a0001c0001t0017g0045 a0001c0001t0017g0196 others(2): Show |
6 | 145 | 0.0414 | 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 | a0001c0001t0002a0001c0001t0027a0001c0001t0073others(6): Show | a0001c0001t0002g0128 a0001c0001t0027g0035 a0001c0001t0073g0130 others(7): Show |
11 | 167 | 0.0659 | 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 | 246 | 0.0163 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 others(42): Show |
87 | 155 | 0.5613 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0160 |
4 | 202 | 0.0198 | 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 | a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0045 others(10): Show |
18 | 85 | 0.2118 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0016 others(23): Show |
41 | 305 | 0.1344 | 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(36): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(28): Show |
39 | 80 | 0.4875 | 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 | a0001c0001t0001g0004 a0002c0002t0001g0029 a0002c0002t0001g0116 |
4 | 132 | 0.0303 | 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 | a0001c0001t0003g0022 a0001c0001t0003g0029 a0001c0001t0003g0099 others(4): Show |
11 | 269 | 0.0409 | 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 | a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0054 others(3): Show |
13 | 392 | 0.0332 | 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 | a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0092 others(1): Show |
7 | 27 | 0.2593 | 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 | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0026 others(5): Show |
18 | 160 | 0.1125 | 6 | c.441 others(23): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 5/6 | chr21 | TogoVar | |||||||
ATP6AP1_chrX_154423677_154441516 | 154428787 | T | TGGCGGC | disruptive_inframe_insertion | MODERATE | HG00642.hp1 HG01934.hp1 HG02109.hp1 others(18): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0002a0002c0004t0001a0002c0004t0002others(1): Show | a0002c0003t0002g0007 a0002c0003t0002g0021 a0002c0003t0002g0042 others(8): Show |
21 | 299 | 0.0702 | 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 | ||
ATP6V0A2_chr12_123707353_123766755 | 123717314 | C | CAAAAAA | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0004a0001c0001t0005a0001c0001t0019others(2): Show | a0001c0001t0004g0134 a0001c0001t0005g0122 a0001c0001t0005g0123 others(3): Show |
6 | 63 | 0.0952 | 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(97): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0005a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show |
100 | 161 | 0.6211 | 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 | a0001c0001t0001g0059 a0001c0001t0001g0070 a0001c0001t0001g0096 others(90): Show |
93 | 362 | 0.2569 | 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 | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0058 others(92): Show |
95 | 374 | 0.2540 | 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 | a0001c0001t0001g0071 a0001c0001t0001g0123 a0001c0001t0002g0240 others(18): Show |
21 | 374 | 0.0561 | 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(57): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0007a0001c0014others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(15): Show | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0028 others(57): Show |
60 | 259 | 0.2317 | 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 | a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0313 others(15): Show |
18 | 263 | 0.0684 | 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 | a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0253 others(10): Show |
13 | 65 | 0.2000 | 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 | a0001c0001t0001g0180 a0001c0001t0001g0253 a0001c0001t0001g0260 others(15): Show |
18 | 73 | 0.2466 | 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 | a0001c0001t0001g0047 a0001c0001t0001g0192 a0001c0001t0001g0208 others(27): Show |
30 | 270 | 0.1111 | 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 | a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0087 others(52): Show |
55 | 68 | 0.8088 | 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 | a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0059 others(46): Show |
49 | 369 | 0.1328 | 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 | a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0012g0370 others(5): Show |
8 | 374 | 0.0214 | 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 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 others(11): Show |
14 | 244 | 0.0574 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0052 |
16 | 84 | 0.1905 | 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 | a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0002g0049 |
3 | 37 | 0.0811 | 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 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0002c0002t0001a0006c0007t0004 | a0001c0001t0001g0013 a0001c0001t0001g0291 a0001c0001t0001g0292 others(8): Show |
12 | 149 | 0.0805 | 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 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 others(17): Show |
20 | 73 | 0.2740 | 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 | a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0163 others(29): Show |
34 | 98 | 0.3469 | 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 | a0001c0001t0001g0023 a0001c0001t0001g0064 a0001c0001t0001g0081 others(10): Show |
13 | 77 | 0.1688 | 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 | a0001c0001t0002g0068 a0001c0001t0002g0155 a0001c0001t0002g0181 others(1): Show |
4 | 353 | 0.0113 | 6 | c.639 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |