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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHRR_chr5_316714_443285 | 420817 | C | CCACGCAG others(195): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0090 | 1 | 123 | 0.0081 | 202 | c.442 others(219): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 420817 | C | CCACGCAG others(195): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(130): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0009a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(45): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 others(130): Show |
133 | 255 | 0.5216 | 202 | c.442 others(219): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4735254 | T | TATACATA others(195): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 | 1 | 48 | 0.0208 | 202 | c.151 others(219): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4735254 | T | TATACATA others(195): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18612.hp1 NA18944.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0024 a0001c0001t0003g0244 a0001c0001t0003g0245 others(8): Show |
11 | 58 | 0.1897 | 202 | c.151 others(219): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77367904 | T | TATATAAC others(195): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0106 | 1 | 176 | 0.0057 | 202 | c.891 others(221): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56406060 | G | GGGGGAGA others(195): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 36 | 0.0278 | 202 | c.667 others(217): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ANGEL1_chr14_76781009_76817882 | 76793397 | G | GGAGAGGG others(195): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 394 | 0.0025 | 202 | c.161 others(221): Show |
ANGEL1 | ENSG00000013523.11 | transcript | ENST00000251089.8 | protein_coding | 7/9 | chr14 | TogoVar | |||||||
ANKRD62_chr18_12088843_12134764 | 12094523 | C | CTGTGGTG others(195): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(68): Show |
a0002a0003a0004others(2): Show | a0002c0003a0002c0012a0003c0004others(4): Show | a0002c0003t0016a0002c0003t0032a0002c0003t0035others(11): Show | a0002c0003t0016g0037 a0002c0003t0032g0110 a0002c0003t0035g0037 others(34): Show |
71 | 273 | 0.2601 | 202 | c.218 others(217): Show |
ANKRD62 | ENSG00000181626.12 | transcript | ENST00000587848.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99139343 | T | TTCCCTCC others(195): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03209.hp1 HG03579.hp1 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0005a0001c0003t0017 | a0001c0003t0002g0008 a0001c0003t0005g0035 a0001c0003t0017g0036 |
3 | 6 | 0.5000 | 202 | c.252 others(223): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 15/26 | chr12 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431162 | G | GGGGGTGT others(195): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 241 | 0.0041 | 202 | c.539 others(217): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431163 | G | GGGGTGTG others(195): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 191 | 0.0052 | 202 | c.539 others(217): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431443 | G | GGGGGTGT others(195): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0014 | 1 | 284 | 0.0035 | 202 | c.539 others(217): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
AOC2_chr17_42839580_42855707 | 42848524 | A | AATATATA others(195): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 249 | 0.0040 | 202 | c.158 others(219): Show |
AOC2 | ENSG00000131480.9 | transcript | ENST00000253799.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AOC3_chr17_42846199_42863124 | 42848524 | A | AATATATA others(195): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0008 | 1 | 238 | 0.0042 | 202 | c.-28 others(213): Show |
AOC3 | ENSG00000131471.7 | transcript | ENST00000308423.7 | protein_coding | 2674 | chr17 | TogoVar | |||||||
API5_chr11_43306996_43349529 | 43310873 | A | AATATATA others(195): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 34 | 0.0294 | 202 | c.-12 others(213): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 1122 | chr11 | TogoVar | |||||||
APOOL_chrX_84998877_85098315 | 85088095 | T | TACATATT others(195): Show |
3_prime_UTR_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0234 | 1 | 251 | 0.0040 | 202 | c.*41 others(211): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 419 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARHGDIG_chr16_275591_288010 | 285931 | C | CCCCAACC others(195): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0002 a0001c0001t0019g0002 |
2 | 386 | 0.0052 | 202 | c.*31 others(213): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2922 | chr16 | TogoVar | |||||||
ARL13B_chr3_93975155_94060678 | 94043558 | C | CTCCCCCC others(195): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 72 | 0.0139 | 202 | c.102 others(219): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
ARL13B_chr3_93975155_94060678 | 94043558 | C | CTCCCCCC others(195): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 72 | 0.0139 | 202 | c.102 others(219): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1430998 | T | TAAATATA others(195): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0024 | a0005c0024t0001 | a0005c0024t0001g0178 | 1 | 183 | 0.0055 | 202 | c.509 others(219): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112804042 | T | TCCCTTCC others(195): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0097 | 1 | 143 | 0.0070 | 202 | c.163 others(217): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357292 | C | CGTGTGAG others(195): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0011a0001c0014 | a0001c0011t0006a0001c0014t0006 | a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 others(2): Show |
5 | 284 | 0.0176 | 202 | c.290 others(221): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357382 | C | CCTGTGTG others(195): Show |
intron_variant | MODIFIER | NA19001.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0095 |
2 | 220 | 0.0091 | 202 | c.290 others(221): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357522 | C | CCTGGGTC others(195): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(8): Show |
a0001a0004 | a0001c0006a0004c0008a0004c0036 | a0001c0006t0007a0004c0008t0001a0004c0036t0001 | a0001c0006t0007g0287 a0001c0006t0007g0288 a0001c0006t0007g0290 others(7): Show |
11 | 204 | 0.0539 | 202 | c.290 others(221): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357630 | G | GCCCTGGG others(195): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG00735.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 others(4): Show |
7 | 296 | 0.0236 | 202 | c.290 others(221): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358054 | C | CGTGTGAG others(195): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0051 |
2 | 293 | 0.0068 | 202 | c.290 others(221): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358316 | C | CCTGGGTC others(195): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 |
a0001 | a0001c0014 | a0001c0014t0006 | a0001c0014t0006g0017 a0001c0014t0006g0097 |
2 | 223 | 0.0090 | 202 | c.290 others(221): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105733678 | C | CCATCCAC others(195): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0083 | 1 | 89 | 0.0112 | 202 | c.355 others(221): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179429004 | C | CGTCTCTA others(195): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0306 | 1 | 342 | 0.0029 | 202 | c.123 others(219): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | chr1 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285931 | C | CCCCAACC others(195): Show |
downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0014 | a0001c0014t0020 | a0001c0014t0020g0072 | 1 | 322 | 0.0031 | 202 | c.*21 others(213): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1508 | chr16 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 374748 | A | AAGGGAGG others(195): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 178 | 0.0056 | 202 | c.784 others(217): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GAGGGGGG others(195): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0153 | 1 | 2 | 0.5000 | 202 | c.51+ others(215): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(195): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0086 | 1 | 2 | 0.5000 | 202 | c.51+ others(215): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(195): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01169.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0097 a0001c0004t0003g0098 |
2 | 3 | 0.6667 | 202 | c.51+ others(215): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(195): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0149 | 1 | 2 | 0.5000 | 202 | c.51+ others(215): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(195): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0109 | 1 | 2 | 0.5000 | 202 | c.51+ others(215): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159501205 | T | TTATATAT others(195): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0085 | 1 | 163 | 0.0061 | 202 | c.-2- others(219): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32252117 | A | ATATATTT others(195): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0161 | 1 | 156 | 0.0064 | 202 | c.426 others(221): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105233249 | A | AGCAACAA others(195): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0064 | 1 | 70 | 0.0143 | 202 | c.695 others(219): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 92012179 | C | CCCTCCCC others(195): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 170 | 0.0059 | 202 | c.431 others(219): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92012179 | C | CCCTCTCC others(195): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01258.hp1 others(31): Show |
a0001a0003a0006 | a0001c0001a0003c0014a0006c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0238 others(31): Show |
34 | 203 | 0.1675 | 202 | c.431 others(219): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCCCCTC others(195): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0002t0001g0127 others(3): Show |
6 | 168 | 0.0357 | 202 | c.431 others(219): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCCCCTC others(195): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 163 | 0.0061 | 202 | c.431 others(219): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCTCCTC others(195): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01952.hp2 HG02273.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0169 others(3): Show |
6 | 168 | 0.0357 | 202 | c.431 others(219): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCTCCTC others(195): Show |
intron_variant | MODIFIER | NA18939.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 a0001c0001t0002g0246 |
2 | 164 | 0.0122 | 202 | c.431 others(219): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | |||||||
BTBD2_chr19_1980448_2020714 | 2015820 | A | AGGAGGAA others(195): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 362 | 0.0028 | 202 | c.-11 others(211): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 107 | chr19 | TogoVar | |||||||
C17orf99_chr17_78141385_78171297 | 78143074 | A | ACAGGTTC others(195): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(151): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(141): Show |
154 | 410 | 0.3756 | 202 | c.-33 others(213): Show |
C17orf99 | ENSG00000187997.12 | transcript | ENST00000340363.10 | protein_coding | 3310 | chr17 | TogoVar | |||||||
C18orf63_chr18_74310839_74364189 | 74361934 | A | AATTATAT others(195): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG01928.hp2 |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0020 | a0003c0005t0004g0222 a0003c0005t0020g0217 a0003c0005t0020g0218 |
3 | 320 | 0.0094 | 202 | c.*54 others(213): Show |
C18orf63 | ENSG00000206043.7 | transcript | ENST00000579455.2 | protein_coding | 2746 | chr18 | TogoVar | |||||||
C8A_chr1_56849797_56923223 | 56885316 | A | ATATATAT others(195): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0062 |
2 | 358 | 0.0056 | 202 | c.856 others(217): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(195): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0066 | 1 | 90 | 0.0111 | 202 | c.573 others(221): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar |