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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASTN1_chr1_176856067_177169712 | 177149662 | TATAGTAA others(21): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02647.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0007a0001c0003t0002others(4): Show | a0001c0001t0002g0046 a0001c0002t0007g0074 a0001c0003t0002g0073 others(5): Show |
8 | 101 | 0.0792 | -28 | c.283 others(47): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177149765 | CTGTATAT others(21): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG02809.hp2 HG02895.hp1 |
a0001a0002 | a0001c0002a0001c0005a0002c0004 | a0001c0002t0002a0001c0005t0005a0002c0004t0003 | a0001c0002t0002g0070 a0001c0005t0005g0102 a0002c0004t0003g0096 |
3 | 106 | 0.0283 | -28 | c.283 others(47): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116502714 | GGAAGGAA others(21): Show |
G | intron_variant | MODIFIER | HG02451.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0005t0005 | a0001c0001t0005g0077 a0001c0005t0005g0047 |
2 | 91 | 0.0220 | -28 | c.335 others(49): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116530124 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp1 HG01515.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0016 | a0001c0001t0002a0001c0005t0005a0003c0016t0004 | a0001c0001t0002g0040 a0001c0005t0005g0007 a0001c0005t0005g0047 others(3): Show |
6 | 100 | 0.0600 | -28 | c.335 others(49): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116565373 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0082 | 1 | 100 | 0.0100 | -28 | c.335 others(49): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116565377 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0010 | 1 | 97 | 0.0103 | -28 | c.335 others(49): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116565379 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0004 | a0001c0001t0001g0100 a0001c0011t0004g0097 |
2 | 97 | 0.0206 | -28 | c.335 others(49): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116889720 | TACACACA others(21): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0083 | 1 | 11 | 0.0909 | -28 | c.189 others(49): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016596 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0005t0005 | a0001c0001t0006g0014 a0001c0005t0005g0076 |
2 | 92 | 0.0217 | -28 | c.142 others(47): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117120012 | GTGTGTGT others(21): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 85 | 0.0118 | -28 | c.116 others(49): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117379146 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 249 | 0.0040 | -28 | c.105 others(45): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | |||||||
ATF1_chr12_50759101_50826162 | 50785906 | AATGACAT others(21): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG03453.hp1 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0283 a0001c0002t0007g0284 a0001c0002t0007g0285 |
3 | 380 | 0.0079 | -28 | c.93+ others(43): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14494284 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02055.hp1 HG02280.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0015 | a0001c0001t0003g0145 a0003c0003t0015g0002 a0003c0003t0015g0168 others(2): Show |
6 | 127 | 0.0472 | -28 | c.328 others(47): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 81967960 | TCTCAGCC others(21): Show |
T | upstream_gene_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0046 | 1 | 224 | 0.0045 | -28 | c.-43 others(39): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 4062 | chr5 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96308229 | TACATATA others(21): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0005 | a0005c0010 | a0005c0010t0009 | a0005c0010t0009g0110 | 1 | 352 | 0.0028 | -28 | c.430 others(47): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96308231 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0012 | a0001c0012t0024 | a0001c0012t0024g0097 | 1 | 279 | 0.0036 | -28 | c.430 others(47): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96340103 | AATATATG others(21): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(177): Show |
a0001a0004a0005others(12): Show | a0001c0002a0001c0003a0001c0011others(23): Show | a0001c0002t0001a0001c0002t0026a0001c0002t0051others(50): Show | a0001c0002t0001g0004 a0001c0002t0001g0019 a0001c0002t0001g0021 others(160): Show |
180 | 207 | 0.8696 | -28 | c.924 others(45): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 6/41 | chr14 | TogoVar | |||||||
ATG4A_chrX_108086778_108159671 | 108148020 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0141 |
2 | 6 | 0.3333 | -28 | c.815 others(45): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62850875 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 a0001c0001t0002g0151 |
2 | 320 | 0.0063 | -28 | c.120 others(47): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62850879 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02559.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0234 a0001c0001t0001g0235 others(2): Show |
5 | 320 | 0.0156 | -28 | c.120 others(47): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATIC_chr2_215307059_215354764 | 215332131 | CGTGTGTG others(21): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 14 | 0.0714 | -28 | c.689 others(43): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325671 | CACACACA others(21): Show |
C | intron_variant | MODIFIER | HG02155.hp1 HG03540.hp2 HG03704.hp2 others(3): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0002a0001c0001t0004a0007c0011t0002 | a0001c0001t0002g0072 a0001c0001t0002g0113 a0001c0001t0002g0119 others(3): Show |
6 | 234 | 0.0256 | -28 | c.364 others(45): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52622960 | TATAAATA others(21): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0119 | 1 | 21 | 0.0476 | -28 | c.17- others(43): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25750865 | CCTTGAAG others(21): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 298 | 0.0034 | -28 | c.655 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25757816 | TCACCTGC others(21): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0209 | 1 | 267 | 0.0037 | -28 | c.655 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25757870 | GACCACCT others(21): Show |
G | intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0220 | 1 | 294 | 0.0034 | -28 | c.655 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25757872 | CCACCTGC others(21): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG02723.hp1 HG03453.hp1 others(2): Show |
a0002a0004a0044others(1): Show | a0002c0002a0004c0004a0044c0051others(1): Show | a0002c0002t0001a0004c0004t0001a0004c0004t0002others(2): Show | a0002c0002t0001g0203 a0004c0004t0001g0071 a0004c0004t0002g0293 others(2): Show |
5 | 237 | 0.0211 | -28 | c.655 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25757982 | GATCACCT others(21): Show |
G | intron_variant | MODIFIER | HG02132.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0101 | 1 | 290 | 0.0034 | -28 | c.655 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758124 | CCACCTGC others(21): Show |
C | intron_variant | MODIFIER | HG03490.hp1 NA19068.hp2 |
a0002a0010 | a0002c0002a0010c0025 | a0002c0002t0002a0010c0025t0001 | a0002c0002t0002g0285 a0010c0025t0001g0005 |
2 | 262 | 0.0076 | -28 | c.655 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758346 | GACCACCT others(21): Show |
G | intron_variant | MODIFIER | NA19068.hp2 NA20129.hp1 NA20300.hp1 |
a0002a0053 | a0002c0002a0002c0076a0053c0044 | a0002c0002t0002a0002c0076t0001a0053c0044t0001 | a0002c0002t0002g0285 a0002c0076t0001g0027 a0053c0044t0001g0205 |
3 | 293 | 0.0102 | -28 | c.655 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758348 | CCACCTGA others(21): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02027.hp1 HG02132.hp1 others(3): Show |
a0001a0002a0009others(3): Show | a0001c0001a0002c0002a0009c0011others(3): Show | a0001c0001t0001a0002c0002t0001a0009c0011t0001others(3): Show | a0001c0001t0001g0139 a0002c0002t0001g0220 a0009c0011t0001g0101 others(3): Show |
6 | 242 | 0.0248 | -28 | c.655 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758430 | GATCACCT others(21): Show |
G | intron_variant | MODIFIER | HG02132.hp1 HG03654.hp1 NA20300.hp1 |
a0001a0002a0009 | a0001c0001a0002c0076a0009c0011 | a0001c0001t0001a0002c0076t0001a0009c0011t0001 | a0001c0001t0001g0064 a0002c0076t0001g0027 a0009c0011t0001g0101 |
3 | 285 | 0.0105 | -28 | c.655 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758488 | CCACCTGC others(21): Show |
C | intron_variant | MODIFIER | HG02559.hp2 NA18985.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0006 a0003c0003t0001g0034 |
2 | 245 | 0.0082 | -28 | c.655 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758572 | CCACCTGC others(21): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01943.hp1 HG02148.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0074 | a0001c0001t0001a0002c0002t0001a0002c0074t0001 | a0001c0001t0001g0139 a0002c0002t0001g0271 a0002c0074t0001g0113 |
3 | 242 | 0.0124 | -28 | c.654 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758736 | CCACCTGC others(21): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0056 | a0056c0028 | a0056c0028t0001 | a0056c0028t0001g0048 | 1 | 267 | 0.0037 | -28 | c.654 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758764 | TCACCTGC others(21): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01074.hp1 others(4): Show |
a0003a0010a0022others(3): Show | a0003c0003a0010c0017a0010c0025others(4): Show | a0003c0003t0001a0010c0017t0001a0010c0025t0001others(4): Show | a0003c0003t0001g0191 a0010c0017t0001g0104 a0010c0025t0001g0005 others(4): Show |
7 | 176 | 0.0398 | -28 | c.654 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160652885 | ATAATTAT others(21): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02809.hp1 |
a0001 | a0001c0008a0001c0011 | a0001c0008t0045a0001c0011t0041 | a0001c0008t0045g0026 a0001c0011t0041g0001 |
2 | 234 | 0.0085 | -28 | c.676 others(45): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160822989 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 131 | 0.0076 | -28 | c.-57 others(49): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139769281 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | NA18954.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 a0001c0001t0002g0180 |
2 | 33 | 0.0606 | -28 | c.221 others(45): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139922223 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG00733.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0015 | a0001c0001t0002g0067 a0001c0001t0002g0178 a0001c0001t0002g0179 others(18): Show |
21 | 31 | 0.6774 | -28 | c.27+ others(43): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193418121 | CAAAAAAA others(21): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG06807.hp1 NA18522.hp1 |
a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0031 a0002c0007t0002g0063 a0002c0007t0002g0114 |
3 | 64 | 0.0469 | -28 | c.284 others(47): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 25/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193541344 | TGATCACA others(21): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01123.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0065 others(13): Show |
16 | 236 | 0.0678 | -28 | c.60+ others(45): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP1B4_chrX_120357089_120388237 | 120386397 | GGGTTCTG others(21): Show |
G | downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0181 | 1 | 351 | 0.0028 | -28 | c.*67 others(39): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 3161 | chrX | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203624237 | GGAAGGAA others(21): Show |
G | upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 299 | 0.0033 | -28 | c.-34 others(39): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2594 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203624245 | GGAAGGAA others(21): Show |
G | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0123 | 1 | 244 | 0.0041 | -28 | c.-34 others(39): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2586 | chr1 | TogoVar | |||||||
ATP2C2_chr16_84363538_84469187 | 84463182 | ACGCTGGG others(21): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(339): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0003others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(92): Show | a0001c0001t0001g0329 a0001c0001t0001g0334 a0001c0001t0002g0008 others(339): Show |
342 | 430 | 0.7953 | -28 | c.272 others(45): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53667952 | CACACATA others(21): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0100 |
6 | 232 | 0.0259 | -28 | c.311 others(45): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123764877 | GCGTCGGG others(21): Show |
G | downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0175 | 1 | 220 | 0.0045 | -28 | c.*68 others(39): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3123 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138784225 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03209.hp2 HG03453.hp1 others(2): Show |
a0002a0004a0007 | a0002c0002a0004c0041a0007c0026 | a0002c0002t0001a0004c0041t0004a0007c0026t0001 | a0002c0002t0001g0006 a0002c0002t0001g0020 a0004c0041t0004g0001 others(2): Show |
5 | 374 | 0.0134 | -28 | c.-18 others(45): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631662 | GTGTGTGT others(21): Show |
G | upstream_gene_variant | MODIFIER | HG01496.hp1 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 a0001c0001t0002g0270 |
2 | 336 | 0.0060 | -28 | c.-30 others(39): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2914 | chr22 | TogoVar |