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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP10D_chr4_47480275_47598486 | 47528458 | GGTGTGTG others(13): Show |
G | intron_variant | MODIFIER | NA19002.hp1 NA20129.hp2 |
a0004a0009 | a0004c0005a0009c0011 | a0004c0005t0006a0009c0011t0001 | a0004c0005t0006g0133 a0009c0011t0001g0154 |
2 | 80 | 0.0250 | -20 | c.776 others(37): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47528495 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG02976.hp1 others(1): Show |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0039 a0006c0007t0001g0040 a0006c0007t0001g0042 others(1): Show |
4 | 324 | 0.0123 | -20 | c.776 others(37): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47528497 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01123.hp1 HG01255.hp1 others(22): Show |
a0001a0002a0008others(4): Show | a0001c0003a0002c0002a0002c0008others(5): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0003t0001g0048 a0002c0002t0001g0118 a0002c0002t0001g0144 others(21): Show |
25 | 322 | 0.0776 | -20 | c.776 others(37): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112714824 | TGTGCACA others(13): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0226 | 1 | 252 | 0.0040 | -20 | c.39+ others(37): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182803175 | TTTTCTAA others(13): Show |
T | intron_variant | MODIFIER | NA18969.hp1 NA18985.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 |
3 | 322 | 0.0093 | -20 | c.27+ others(35): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182854752 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(109): Show |
a0001a0005a0008 | a0001c0001a0005c0006a0008c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(104): Show |
112 | 131 | 0.8550 | -20 | c.852 others(37): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 10/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139742872 | AAAAAATA others(13): Show |
A | intron_variant | MODIFIER | HG01261.hp1 NA18942.hp1 NA18971.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0015a0002c0002t0002others(1): Show | a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0194 others(7): Show |
10 | 230 | 0.0435 | -20 | c.303 others(37): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139742874 | AAAATATA others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG00733.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0002g0067 a0001c0001t0002g0178 a0001c0001t0002g0179 others(25): Show |
28 | 218 | 0.1284 | -20 | c.303 others(37): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139742876 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG02132.hp1 NA19030.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0002c0002t0012a0003c0004t0004 | a0001c0001t0002g0069 a0002c0002t0012g0001 a0003c0004t0004g0205 |
3 | 190 | 0.0158 | -20 | c.303 others(37): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139852452 | CGGGGGGG others(13): Show |
C | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 61 | 0.0164 | -20 | c.28- others(37): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139896546 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0053 | 1 | 17 | 0.0588 | -20 | c.27+ others(37): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | GTTTTTTT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0144 others(5): Show |
11 | 72 | 0.1528 | -20 | c.-29 others(31): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193484310 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0113 | 1 | 187 | 0.0053 | -20 | c.739 others(35): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193531296 | GAGGAAGG others(13): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0114 | 1 | 125 | 0.0080 | -20 | c.61- others(37): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193545973 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | NA19074.hp2 NA20300.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0228 a0002c0002t0001g0167 |
2 | 42 | 0.0476 | -20 | c.60+ others(35): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193362750 | CTTCTTTC others(13): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00738.hp1 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0006a0001c0007a0002c0001others(4): Show | a0001c0006t0001a0001c0007t0001a0002c0001t0001others(4): Show | a0001c0006t0001g0012 a0001c0006t0001g0079 a0001c0006t0001g0164 others(14): Show |
18 | 149 | 0.1208 | -20 | c.385 others(35): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
ATP1A4_chr1_160146603_160191980 | 160150980 | TTTTGTTT others(13): Show |
T | upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0064 | 1 | 34 | 0.0294 | -20 | c.-10 others(31): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 622 | chr1 | TogoVar | |||||||
ATP1B2_chr17_7645926_7662770 | 7656017 | GCCTCACA others(13): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0028 | 1 | 438 | 0.0023 | -20 | c.*12 others(29): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 7/7 | 124 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141885880 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 119 | 0.0084 | -20 | c.109 others(37): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141890285 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0390 | 1 | 15 | 0.0667 | -20 | c.110 others(39): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120364150 | TACAAATA others(13): Show |
T | intron_variant | MODIFIER | NA18972.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0155 | 1 | 351 | 0.0028 | -20 | c.63+ others(35): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89658598 | GGAGAGAG others(13): Show |
G | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 46 | 0.0217 | -20 | c.-22 others(39): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677965 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 276 | 0.0036 | -20 | c.-22 others(41): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203624225 | AGAAAGAA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG02132.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 a0001c0001t0006g0005 |
2 | 312 | 0.0064 | -20 | c.-34 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2606 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203624241 | GGAAGGAA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0019 | a0001c0019t0014 | a0001c0019t0014g0314 | 1 | 312 | 0.0032 | -20 | c.-34 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2590 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203624245 | GGAAGGAA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00621.hp2 HG02135.hp1 NA18612.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0004g0254 others(2): Show |
5 | 248 | 0.0202 | -20 | c.-34 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2586 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203624249 | GGAAGGAA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG02004.hp1 HG02027.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0003g0177 others(5): Show |
8 | 240 | 0.0333 | -20 | c.-34 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2582 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203624253 | GGAAAGAA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG02922.hp1 NA19083.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0003a0002c0005t0051 | a0001c0001t0003g0188 a0002c0005t0051g0178 |
2 | 223 | 0.0090 | -20 | c.-34 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2578 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203674637 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 26 | 0.0385 | -20 | c.-46 others(39): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130902284 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0078 | 1 | 120 | 0.0083 | -20 | c.6+7 others(33): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130970369 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0347 | 1 | 71 | 0.0141 | -20 | c.141 others(38): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130986864 | ATTAGTTT others(13): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 311 | 0.0032 | -20 | c.184 others(39): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130986913 | GTTTAGTT others(13): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0092 others(26): Show |
29 | 380 | 0.0763 | -20 | c.184 others(39): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP5MC1_chr17_48887787_48900871 | 48888313 | CCTATCTA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0003g0003 |
2 | 51 | 0.0392 | -20 | c.-46 others(31): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 4473 | chr17 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48890930 | CACCGCAC others(13): Show |
C | upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | -20 | c.-19 others(31): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 1856 | chr17 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667952 | CACACATA others(13): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0102 |
3 | 229 | 0.0131 | -20 | c.311 others(37): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667954 | CACATATA others(13): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 276 | 0.0036 | -20 | c.311 others(37): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02109.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0047 others(7): Show |
17 | 215 | 0.0791 | -20 | c.311 others(37): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5ME_chr4_667436_679276 | 677294 | TGACACCA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | -20 | c.-30 others(31): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3019 | chr4 | TogoVar | |||||||
ATP5MGL_chr22_42634803_42645601 | 42640350 | CTTATTTA others(13): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02809.hp2 HG03098.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 72 | 0.0556 | -20 | c.-96 others(27): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 77 | chr22 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138708017 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG01891.hp2 NA18522.hp2 |
a0001a0007 | a0001c0001a0007c0017 | a0001c0001t0001a0007c0017t0001 | a0001c0001t0001g0314 a0007c0017t0001g0311 |
2 | 231 | 0.0087 | -20 | c.243 others(39): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138718277 | GCGGTGTG others(13): Show |
G | intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 |
a0004a0009 | a0004c0011a0009c0042 | a0004c0011t0001a0009c0042t0001 | a0004c0011t0001g0063 a0009c0042t0001g0111 |
2 | 274 | 0.0073 | -20 | c.214 others(39): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138718279 | GGTGTGTG others(13): Show |
G | intron_variant | MODIFIER | HG03239.hp1 HG03834.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0256 a0002c0002t0001g0283 |
2 | 126 | 0.0159 | -20 | c.214 others(39): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138730341 | AGTGTGTG others(13): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp1 HG02896.hp1 others(6): Show |
a0001a0002 | a0001c0005a0001c0010a0001c0021others(2): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0002others(3): Show | a0001c0005t0001g0032 a0001c0005t0005g0067 a0001c0010t0002g0197 others(6): Show |
9 | 61 | 0.1475 | -20 | c.190 others(39): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138784233 | TACGTATA others(13): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0366 | 1 | 372 | 0.0027 | -20 | c.-18 others(37): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138784267 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0350 | 1 | 362 | 0.0028 | -20 | c.-18 others(37): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ATP6V0D1_chr16_67433019_67486157 | 67466326 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG03516.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 a0001c0001t0003g0041 |
2 | 36 | 0.0556 | -20 | c.131 others(39): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 1/7 | chr16 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10754542 | ATTTTCTT others(13): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp1 others(80): Show |
a0001a0002a0007 | a0001c0001a0001c0016a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0047 others(79): Show |
83 | 90 | 0.9222 | -20 | c.283 others(35): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631662 | GTGTGTGT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01516.hp2 HG01517.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0008 | a0001c0001t0002a0001c0001t0003a0001c0005t0003others(1): Show | a0001c0001t0002g0249 a0001c0001t0003g0307 a0001c0001t0003g0309 others(5): Show |
8 | 342 | 0.0234 | -20 | c.-30 others(31): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2914 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631668 | GTGTATAT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0174 |
2 | 302 | 0.0066 | -20 | c.-30 others(31): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2920 | chr22 | TogoVar |