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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2B1_chr12_89583049_89713838 | 89630772 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0036 others(277): Show |
282 | 299 | 0.9431 | 12 | c.788 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 5/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89643065 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0115 others(2): Show |
5 | 158 | 0.0316 | 12 | c.209 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89658598 | G | GGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01106.hp2 HG01168.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(2): Show | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0127 others(8): Show |
11 | 56 | 0.1964 | 12 | c.-22 others(31): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 165 | 0.0061 | 12 | c.-22 others(33): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677956 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01081.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0066 others(16): Show |
19 | 330 | 0.0576 | 12 | c.-22 others(33): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677971 | T | TATATACA others(5): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0142 | 1 | 209 | 0.0048 | 12 | c.-22 others(33): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10471364 | C | CTGAGTGT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01074.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(7): Show | a0001c0001t0003g0045 a0001c0002t0001g0086 a0001c0002t0003g0041 others(14): Show |
17 | 34 | 0.5000 | 12 | c.-31 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10486324 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0049a0001c0002t0004others(7): Show | a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0129 others(16): Show |
19 | 163 | 0.1166 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10488232 | C | CCCATCCA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01168.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(6): Show | a0001c0001t0001g0022 a0001c0001t0001g0157 a0001c0001t0009g0009 others(7): Show |
10 | 199 | 0.0503 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10488234 | T | TATCCATC others(5): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03041.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0028a0001c0004t0052a0001c0012t0022 | a0001c0001t0028g0159 a0001c0004t0052g0016 a0001c0012t0022g0198 |
3 | 152 | 0.0197 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10488463 | A | ATTCATTC others(5): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02080.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0003a0001c0005t0001a0001c0006t0001others(2): Show | a0001c0003t0003g0053 a0001c0005t0001g0064 a0001c0005t0001g0219 others(3): Show |
6 | 160 | 0.0375 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10488463 | A | ATTCCTTC others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00735.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0017a0001c0002t0002others(12): Show | a0001c0001t0001g0008 a0001c0001t0001g0088 a0001c0001t0017g0277 others(15): Show |
18 | 172 | 0.1047 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10488511 | C | CTTCCTTC others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02155.hp2 HG02738.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(4): Show | a0001c0001t0001g0114 a0001c0001t0001g0262 a0001c0001t0003g0142 others(5): Show |
8 | 153 | 0.0523 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10488511 | C | CTTCGTTC others(5): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0242 | 1 | 146 | 0.0068 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203624249 | G | GGAAAGAA others(5): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0227 | 1 | 233 | 0.0043 | 12 | c.-34 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2582 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203633713 | G | GATAAATA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(41): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0147 others(41): Show |
44 | 54 | 0.8148 | 12 | c.-46 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203633739 | T | TAAATAAA others(5): Show |
intron_variant | MODIFIER | HG03704.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0241 a0001c0001t0020g0159 |
2 | 316 | 0.0063 | 12 | c.-46 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203680621 | A | AAAAGAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(238): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 others(237): Show |
241 | 272 | 0.8860 | 12 | c.-46 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0022a0001c0001t0026others(1): Show | a0001c0001t0015g0025 a0001c0001t0022g0136 a0001c0001t0026g0256 others(1): Show |
4 | 36 | 0.1111 | 12 | c.193 others(29): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203703164 | C | CGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0149 | 1 | 78 | 0.0128 | 12 | c.938 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203717626 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG01168.hp2 others(36): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0092 a0001c0001t0002g0161 a0001c0001t0002g0163 others(36): Show |
39 | 121 | 0.3223 | 12 | c.240 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203719721 | T | TATAAATA others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006a0001c0012 | a0001c0001t0002a0001c0001t0006a0001c0001t0022others(4): Show | a0001c0001t0002g0309 a0001c0001t0006g0032 a0001c0001t0022g0151 others(4): Show |
7 | 194 | 0.0361 | 12 | c.240 others(29): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203723420 | A | ATCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01069.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0300 a0001c0001t0004g0185 a0001c0001t0004g0206 others(14): Show |
17 | 213 | 0.0798 | 12 | c.302 others(29): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203723457 | T | TCTCTCTC others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG01074.hp1 others(12): Show |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0002g0175 a0001c0001t0002g0192 a0001c0001t0002g0220 others(12): Show |
15 | 238 | 0.0630 | 12 | c.302 others(29): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203744827 | T | TACACACA others(5): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0012 | a0001c0001t0004g0172 a0001c0001t0004g0200 a0001c0001t0005g0097 others(1): Show |
4 | 212 | 0.0189 | 12 | c.*49 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 747 | chr1 | TogoVar | |||||||
ATP2C1_chr3_130889084_131008150 | 130953076 | C | CGTATGTA others(5): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 176 | 0.0057 | 12 | c.532 others(27): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130970369 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02809.hp1 HG03195.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0210 others(5): Show |
8 | 78 | 0.1026 | 12 | c.141 others(31): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00639.hp1 others(47): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0419 a0001c0001t0002g0008 a0001c0001t0003g0425 others(47): Show |
50 | 69 | 0.7246 | 12 | c.100 others(27): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84424576 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03471.hp1 |
a0009a0019 | a0009c0033a0019c0036 | a0009c0033t0002a0019c0036t0002 | a0009c0033t0002g0073 a0019c0036t0002g0081 |
2 | 118 | 0.0169 | 12 | c.920 others(29): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84446513 | A | ATAATTTG others(5): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0327 | 1 | 430 | 0.0023 | 12 | c.150 others(27): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46092180 | A | AAATAATA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 49 | 0.0204 | 12 | c.140 others(27): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | |||||||
ATP5F1A_chr18_46075248_46103296 | 46094157 | G | GACACATC others(5): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0167 | 1 | 388 | 0.0026 | 12 | c.139 others(27): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | |||||||
ATP5F1A_chr18_46075248_46103296 | 46094186 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00544.hp2 others(89): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0006 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(28): Show | a0001c0001t0002g0001 a0001c0001t0002g0022 a0001c0001t0002g0034 others(49): Show |
92 | 248 | 0.3710 | 12 | c.139 others(27): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | |||||||
ATP5F1B_chr12_56633175_56650984 | 56648449 | A | AAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 HG01993.hp1 HG02148.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 304 | 0.0132 | 12 | c.-24 others(23): Show |
ATP5F1B | ENSG00000110955.9 | transcript | ENST00000262030.8 | protein_coding | 2466 | chr12 | TogoVar | |||||||
ATP5F1E_chr20_59020475_59037335 | 59022000 | T | TAAACAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 392 | 0.0026 | 12 | c.*68 others(23): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 3474 | chr20 | TogoVar | |||||||
ATP5F1E_chr20_59020475_59037335 | 59022004 | T | TAAACAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 211 | 0.0047 | 12 | c.*68 others(23): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 3470 | chr20 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48899067 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 8 | 0.1250 | 12 | c.*32 others(23): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53664344 | A | AAAATAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01123.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(23): Show |
37 | 121 | 0.3058 | 12 | c.*95 others(21): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 825 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CACACATA others(5): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 199 | 0.0050 | 12 | c.311 others(29): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CACATATA others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01192.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 others(9): Show |
20 | 218 | 0.0917 | 12 | c.311 others(29): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 199 | 0.0050 | 12 | c.311 others(29): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667998 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 415 | 0.0024 | 12 | c.311 others(29): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53669016 | A | AAAACAAA others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 389 | 0.0026 | 12 | c.311 others(27): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA19002.hp2 NA19068.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 |
3 | 70 | 0.0429 | 12 | c.39+ others(25): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53673319 | A | AAAACAAA others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0044 a0001c0001t0001g0047 others(7): Show |
16 | 188 | 0.0851 | 12 | c.-31 others(27): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53679238 | C | CGAGAGAG others(5): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 NA18522.hp1 NA18943.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(5): Show |
8 | 49 | 0.1633 | 12 | c.-32 others(23): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103908165 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0175 | 1 | 224 | 0.0045 | 12 | c.*45 others(23): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 4122 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103917730 | T | TGCTAGCT others(5): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 438 | 0.0023 | 12 | c.1-2 others(25): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103925043 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0179 | 1 | 326 | 0.0031 | 12 | c.-35 others(23): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 3515 | chr14 | TogoVar | |||||||
ATP5PB_chr1_111444464_111467773 | 111457312 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0017a0001c0002t0004 | a0001c0001t0005g0012 a0001c0001t0005g0041 a0001c0001t0005g0112 others(2): Show |
10 | 268 | 0.0373 | 12 | c.513 others(27): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |