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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASCL5_chr1_201108943_201132184 | 201111932 | C | CTTTCCTC others(22): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 416 | 0.0024 | 29 | c.*28 others(40): Show |
ASCL5 | ENSG00000232237.5 | transcript | ENST00000449188.3 | protein_coding | 2010 | chr1 | TogoVar | |||||||
ASCL5_chr1_201108943_201132184 | 201111971 | T | TCCCCCAC others(22): Show |
downstream_gene_variant | MODIFIER | NA18985.hp2 | a0003 | a0003c0003 | a0003c0003t0026 | a0003c0003t0026g0058 | 1 | 416 | 0.0024 | 29 | c.*27 others(40): Show |
ASCL5 | ENSG00000232237.5 | transcript | ENST00000449188.3 | protein_coding | 1971 | chr1 | TogoVar | |||||||
ASH2L_chr8_38100529_38145080 | 38117219 | T | TGGTTATT others(22): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 328 | 0.0030 | 29 | c.853 others(44): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34258700 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 235 | 0.0043 | 29 | c.-10 others(46): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34258700 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03225.hp1 NA18747.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 a0001c0001t0002g0211 a0001c0001t0002g0212 |
4 | 238 | 0.0168 | 29 | c.-10 others(46): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34258700 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02647.hp2 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 a0001c0001t0002g0189 a0001c0001t0002g0193 others(4): Show |
7 | 241 | 0.0290 | 29 | c.-10 others(46): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50513457 | G | GGGGGACA others(22): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 368 | 0.0027 | 29 | c.53- others(40): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61539699 | G | GTGTGTGT others(22): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 4 | 0.2500 | 29 | c.176 others(48): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197148333 | C | CAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG02630.hp1 HG02735.hp1 |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0003t0001a0001c0008t0001 | a0001c0001t0001g0114 a0001c0003t0001g0198 a0001c0008t0001g0096 |
3 | 30 | 0.1000 | 29 | c.-18 others(40): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1665 | chr1 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130500285 | A | ACGAACTG others(22): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 372 | 0.0027 | 29 | c.119 others(46): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 14/14 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116790970 | A | AGAAAGAA others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0061 | 1 | 91 | 0.0110 | 29 | c.239 others(50): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116933979 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0061 | 1 | 12 | 0.0833 | 29 | c.188 others(50): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016634 | A | AACCTATA others(22): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0032 | 1 | 84 | 0.0119 | 29 | c.142 others(48): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23745422 | A | AAGGAAAG others(22): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0226 | 1 | 175 | 0.0057 | 29 | c.*66 others(40): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 3241 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23745422 | A | AAGGAAGG others(22): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 175 | 0.0057 | 29 | c.*66 others(40): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 3241 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23807907 | A | AATATAAA others(22): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01069.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(3): Show |
6 | 244 | 0.0246 | 29 | c.245 others(48): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23878010 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 174 | 0.0057 | 29 | c.902 others(46): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23878025 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0246 | 1 | 190 | 0.0053 | 29 | c.902 others(46): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123354864 | A | AAAAAAAT others(22): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0007 | 1 | 135 | 0.0074 | 29 | c.164 others(48): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 13/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123354864 | A | AAAAATAT others(22): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0012 | 1 | 135 | 0.0074 | 29 | c.164 others(48): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 13/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123377091 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02630.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0233 a0001c0001t0001g0263 a0001c0001t0001g0265 others(1): Show |
4 | 50 | 0.0800 | 29 | c.320 others(46): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | |||||||
ATCAY_chr19_3875685_3933082 | 3931338 | G | GCCGGGCT others(22): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0203 | 1 | 382 | 0.0026 | 29 | c.*67 others(40): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 3257 | chr19 | TogoVar | |||||||
ATF4_chr22_39515562_39527683 | 39523993 | C | CTTTTTTT others(22): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 NA18973.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 2 | 173 | 0.0116 | 29 | c.*13 others(40): Show |
ATF4 | ENSG00000128272.18 | transcript | ENST00000674920.3 | protein_coding | 1311 | chr22 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53587366 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG01192.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0219 others(4): Show |
7 | 95 | 0.0737 | 29 | c.48+ others(46): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 81993359 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0030 | 1 | 149 | 0.0067 | 29 | c.108 others(46): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 81993360 | C | CTTCTTTC others(22): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0098 a0001c0001t0011g0099 a0001c0001t0011g0100 |
3 | 50 | 0.0600 | 29 | c.108 others(46): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82118400 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18984.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0006 | a0001c0001t0001g0190 a0004c0004t0006g0187 |
2 | 187 | 0.0107 | 29 | c.217 others(48): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96308283 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0167 | 1 | 327 | 0.0031 | 29 | c.430 others(48): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG4A_chrX_108086778_108159671 | 108141338 | A | ATCCTATC others(22): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 247 | 0.0040 | 29 | c.814 others(46): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11378027 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0061 | 1 | 16 | 0.0625 | 29 | c.187 others(48): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38329423 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03490.hp1 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 a0001c0001t0002g0122 |
2 | 75 | 0.0267 | 29 | c.364 others(48): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38337486 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 28 | 0.0357 | 29 | c.363 others(46): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160669918 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0008 | a0001c0008t0019 | a0001c0008t0019g0087 | 1 | 42 | 0.0238 | 29 | c.675 others(44): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CATCTTTT others(22): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0033 | a0001c0033t0016 | a0001c0033t0016g0210 | 1 | 33 | 0.0303 | 29 | c.-20 others(50): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01934.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0005 | a0001c0001t0004g0232 a0001c0002t0005g0127 |
2 | 34 | 0.0588 | 29 | c.-20 others(50): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160824698 | A | ATATCTAA others(22): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0236 | 1 | 234 | 0.0043 | 29 | c.-57 others(50): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112787832 | C | CTGATGCG others(22): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0065 a0001c0002t0008g0066 |
2 | 252 | 0.0079 | 29 | c.162 others(46): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112828118 | G | GAAACGCC others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(161): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(72): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(161): Show |
164 | 250 | 0.6560 | 29 | c.122 others(48): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194421944 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0010 | 1 | 135 | 0.0074 | 29 | c.331 others(48): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193541248 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0289 | 1 | 219 | 0.0046 | 29 | c.60+ others(46): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP1B1_chr1_169101690_169137719 | 169114131 | G | GAGGACCC others(22): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00738.hp1 others(36): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0028 others(34): Show |
39 | 348 | 0.1121 | 29 | c.226 others(46): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89630772 | A | AATATATA others(22): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp1 others(28): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0015others(4): Show | a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 others(28): Show |
31 | 48 | 0.6458 | 29 | c.788 others(44): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 5/20 | chr12 | TogoVar | |||||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01071.hp2 HG03704.hp1 NA18943.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0007 | a0001c0001t0002a0002c0004t0001a0002c0007t0001 | a0001c0001t0002g0303 a0001c0001t0002g0309 a0002c0004t0001g0001 others(1): Show |
4 | 23 | 0.1739 | 29 | c.100 others(44): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01169.hp2 HG01496.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0025 |
9 | 76 | 0.1184 | 29 | c.39+ others(42): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138718231 | C | CAGAGGGA others(22): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(103): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0059 others(103): Show |
106 | 249 | 0.4257 | 29 | c.214 others(48): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138737113 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01515.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0014a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0077 a0001c0001t0001g0093 others(17): Show |
20 | 183 | 0.1093 | 29 | c.157 others(48): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745658 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 115 | 0.0087 | 29 | c.132 others(46): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10733812 | A | AAGTGCTT others(22): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(202): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0015others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0078 a0001c0001t0001g0112 a0001c0001t0001g0113 others(201): Show |
205 | 351 | 0.5840 | 29 | c.197 others(46): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25937362 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0069 | a0001c0003t0069g0012 | 1 | 17 | 0.0588 | 29 | c.318 others(50): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57759155 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0009 | a0009c0008 | a0009c0008t0030 | a0009c0008t0030g0007 | 1 | 69 | 0.0145 | 29 | c.-25 others(48): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar |