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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASB18_chr2_236188459_236269406 | 236237413 | GGGGCCGG others(18): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02258.hp2 others(14): Show |
a0001a0003 | a0001c0003a0001c0008a0003c0004 | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(2): Show | a0001c0003t0001g0009 a0001c0003t0001g0011 a0001c0003t0001g0012 others(12): Show |
17 | 248 | 0.0685 | -25 | c.596 others(40): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
ASB3_chr2_53664980_53791953 | 53671689 | GCGGAGGT others(18): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015 | a0001c0001t0001g0014 a0001c0001t0004g0013 a0001c0001t0015g0012 |
3 | 348 | 0.0086 | -25 | c.137 others(44): Show |
ASB3 | ENSG00000115239.24 | transcript | ENST00000263634.8 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176218201 | AATATATA others(18): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG00735.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0054 others(30): Show |
34 | 375 | 0.0907 | -25 | c.671 others(42): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176218391 | AATATATA others(18): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0332 | 1 | 314 | 0.0032 | -25 | c.671 others(42): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219024 | AATATATA others(18): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01069.hp1 others(13): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0003a0001c0002t0013a0001c0006t0003 | a0001c0002t0003g0002 a0001c0002t0003g0022 a0001c0002t0003g0046 others(8): Show |
16 | 271 | 0.0590 | -25 | c.671 others(42): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219187 | TATAAATA others(18): Show |
T | intron_variant | MODIFIER | HG02723.hp1 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0038 a0001c0002t0007g0066 |
2 | 408 | 0.0049 | -25 | c.670 others(42): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219262 | AATATATA others(18): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01071.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0002t0002others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(25): Show |
33 | 404 | 0.0817 | -25 | c.670 others(42): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219419 | ATGTATGA others(18): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02970.hp1 HG03225.hp2 |
a0001a0005 | a0001c0002a0001c0005a0005c0009 | a0001c0002t0007a0001c0005t0001a0005c0009t0001 | a0001c0002t0007g0065 a0001c0005t0001g0300 a0005c0009t0001g0185 |
3 | 215 | 0.0140 | -25 | c.670 others(42): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218158 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192 | 1 | 213 | 0.0047 | -25 | c.-20 others(36): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1883 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218162 | AAAAATAT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 202 | 0.0050 | -25 | c.-20 others(36): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1887 | chr10 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155490968 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02074.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0020 a0001c0001t0001g0065 a0001c0001t0001g0073 others(11): Show |
14 | 67 | 0.2090 | -25 | c.421 others(42): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155562576 | TCCGTCCG others(18): Show |
T | 5_prime_UTR_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003 | 1 | 180 | 0.0056 | -25 | c.-54 others(34): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 1/28 | 41058 | chr1 | TogoVar | ||||||
ASIC1_chr12_50052596_50088611 | 50085673 | TGGGGGAG others(18): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG03209.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0070 |
3 | 322 | 0.0093 | -25 | c.*40 others(36): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 2063 | chr12 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33192384 | AAAAACAA others(18): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02976.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0003g0053 a0001c0001t0004g0036 a0001c0001t0004g0042 others(12): Show |
15 | 39 | 0.3846 | -25 | c.709 others(44): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASL_chr7_66070819_66098576 | 66096983 | GTTTGTTT others(18): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 314 | 0.0032 | -25 | c.*40 others(36): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 3408 | chr7 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1612495 | ATCCTGGC others(18): Show |
A | upstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0177 | 1 | 221 | 0.0045 | -25 | c.-27 others(36): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 2563 | chrX | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26435710 | TAAAAGAA others(18): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01123.hp2 HG01168.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0031 a0001c0001t0001g0077 a0001c0001t0010g0078 others(6): Show |
14 | 68 | 0.2059 | -25 | c.886 others(42): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130485408 | AGCCAAGC others(18): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0164 a0001c0001t0001g0344 |
5 | 372 | 0.0134 | -25 | c.839 others(42): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117060325 | AGAAAGAA others(18): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02965.hp2 |
a0001 | a0001c0001a0001c0011a0001c0014 | a0001c0001t0007a0001c0011t0004a0001c0014t0017 | a0001c0001t0007g0087 a0001c0011t0004g0097 a0001c0014t0017g0049 |
3 | 76 | 0.0395 | -25 | c.127 others(46): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117060485 | GAATGAAA others(18): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0002 | 1 | 81 | 0.0123 | -25 | c.127 others(46): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ATAD3A_chr1_1507162_1539685 | 1518260 | CACACACA others(18): Show |
C | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0028 | a0001c0028t0004 | a0001c0028t0004g0091 | 1 | 420 | 0.0024 | -25 | c.444 others(40): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3A_chr1_1507162_1539685 | 1537554 | CCTGGAGG others(18): Show |
C | downstream_gene_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0306 | 1 | 420 | 0.0024 | -25 | c.*34 others(36): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 2870 | chr1 | TogoVar | |||||||
ATAD3A_chr1_1507162_1539685 | 1539088 | CGTACAAA others(18): Show |
C | downstream_gene_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 420 | 0.0024 | -25 | c.*50 others(36): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 4404 | chr1 | TogoVar | |||||||
ATAD5_chr17_30826966_30900869 | 30850855 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0271 | 1 | 278 | 0.0036 | -25 | c.245 others(44): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3879508 | AGAAAGAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp1 NA18963.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0111 a0001c0001t0001g0155 a0001c0001t0004g0138 |
3 | 379 | 0.0079 | -25 | c.-15 others(36): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 1176 | chr19 | TogoVar | |||||||
ATE1_chr10_121735424_121933031 | 121903073 | CCAGACTG others(18): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0236 | 1 | 287 | 0.0035 | -25 | c.584 others(40): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 5/11 | chr10 | TogoVar | |||||||
ATF7IP2_chr16_10381061_10488638 | 10410311 | AGTTTTGT others(18): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01256.hp2 HG01257.hp2 others(26): Show |
a0001a0003 | a0001c0002a0003c0004a0003c0011 | a0001c0002t0003a0003c0004t0002a0003c0011t0002 | a0001c0002t0003g0289 a0001c0002t0003g0290 a0001c0002t0003g0291 others(25): Show |
29 | 71 | 0.4085 | -25 | c.-24 others(44): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14369761 | GCTAGTTT others(18): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG02145.hp2 HG02451.hp2 others(11): Show |
a0003 | a0003c0003a0003c0005 | a0003c0003t0035a0003c0005t0007a0003c0005t0038others(1): Show | a0003c0003t0035g0340 a0003c0005t0007g0322 a0003c0005t0007g0323 others(11): Show |
14 | 344 | 0.0407 | -25 | c.-8+ others(40): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55402915 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0042 | 1 | 361 | 0.0028 | -25 | c.222 others(42): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402917 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0036 | 1 | 359 | 0.0028 | -25 | c.222 others(42): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402919 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0107 | 1 | 351 | 0.0028 | -25 | c.222 others(42): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402925 | AAATATAT others(18): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0304 | 1 | 344 | 0.0029 | -25 | c.222 others(42): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG4D_chr19_10538904_10558418 | 10548003 | ATTTTTTT others(18): Show |
A | intron_variant | MODIFIER | HG01975.hp1 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0146 |
2 | 8 | 0.2500 | -25 | c.835 others(40): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52597165 | GTTCTATT others(18): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0019 | 1 | 9 | 0.1111 | -25 | c.264 others(44): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 9/12 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160755839 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0006 | a0001c0006t0020 | a0001c0006t0020g0184 | 1 | 216 | 0.0046 | -25 | c.-33 others(46): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112804034 | GCCCTCCT others(18): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0042 | a0001c0042t0046 | a0001c0042t0046g0148 | 1 | 249 | 0.0040 | -25 | c.163 others(40): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139828080 | GCTGTATA others(18): Show |
G | intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0010 | 1 | 232 | 0.0043 | -25 | c.28- others(40): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | GTTTTTTT others(18): Show |
G | upstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 62 | 0.0161 | -25 | c.-29 others(36): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194491745 | CCCCCTCC others(18): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02886.hp2 HG03041.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0010a0001c0001t0034a0003c0006t0010 | a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0262 others(4): Show |
7 | 289 | 0.0242 | -25 | c.-52 others(36): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 4744 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193418121 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0072 | 1 | 62 | 0.0161 | -25 | c.284 others(44): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 25/29 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874779 | CTTTTTTT others(18): Show |
C | upstream_gene_variant | MODIFIER | HG03098.hp2 HG03130.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 |
3 | 16 | 0.1875 | -25 | c.-20 others(36): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1863 | chr3 | TogoVar | |||||||
ATP1B4_chrX_120357089_120388237 | 120374583 | AATATATA others(18): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0185 | 1 | 348 | 0.0029 | -25 | c.563 others(40): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89628401 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0021 | a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 others(2): Show |
5 | 6 | 0.8333 | -25 | c.929 others(40): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 6/20 | chr12 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10323557 | AGGTTTGT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02257.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0005a0001c0001t0048a0001c0002t0005others(4): Show | a0001c0001t0005g0205 a0001c0001t0048g0276 a0001c0002t0005g0180 others(8): Show |
11 | 288 | 0.0382 | -25 | c.*52 others(36): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 465 | chr3 | TogoVar | |||||||
ATP2C1_chr3_130889084_131008150 | 130986908 | GTTTAGTT others(18): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00673.hp2 others(59): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0084 a0001c0001t0001g0086 others(58): Show |
62 | 380 | 0.1632 | -25 | c.184 others(44): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84466202 | TAAGCTGA others(18): Show |
T | downstream_gene_variant | MODIFIER | HG02630.hp1 HG02723.hp2 |
a0001 | a0001c0029 | a0001c0029t0004 | a0001c0029t0004g0387 a0001c0029t0004g0388 |
2 | 430 | 0.0047 | -25 | c.*24 others(36): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 2016 | chr16 | TogoVar | |||||||
ATP4A_chr19_35545031_35568658 | 35557870 | AGGCTGTG others(18): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 424 | 0.0024 | -25 | c.150 others(40): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 10/21 | chr19 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48898498 | CCCACAAC others(18): Show |
C | downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 332 | 0.0030 | -25 | c.*27 others(36): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 2628 | chr17 | TogoVar | |||||||
ATP6V1D_chr14_67332872_67364804 | 67335954 | GTTCTTTA others(18): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0043 a0001c0001t0001g0165 a0001c0001t0003g0166 others(2): Show |
6 | 346 | 0.0173 | -25 | c.*26 others(36): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 1917 | chr14 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631696 | ATATATAT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0207 | 1 | 360 | 0.0028 | -25 | c.-30 others(36): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2948 | chr22 | TogoVar |