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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA8_chr17_68862289_68960392 | 68958534 | A | AATATATA others(278): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0123 | 1 | 274 | 0.0037 | 285 | c.-34 others(296): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3143 | chr17 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25392144 | T | TAAAAACA others(278): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0291 | 1 | 316 | 0.0032 | 285 | c.-14 others(296): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1310 | chr20 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37099500 | A | AGGAGGGC others(278): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0226 a0001c0001t0015g0271 |
2 | 299 | 0.0067 | 285 | c.656 others(304): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100058226 | A | ACCCCTAT others(278): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01496.hp1 HG02071.hp1 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0007a0001c0014a0001c0040others(8): Show | a0001c0007t0002a0001c0007t0018a0001c0014t0034others(12): Show | a0001c0007t0002g0057 a0001c0007t0018g0046 a0001c0014t0034g0017 others(12): Show |
15 | 228 | 0.0658 | 285 | c.213 others(304): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500856 | A | AGGGAGGA others(278): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0012 | a0012c0018 | a0012c0018t0005 | a0012c0018t0005g0162 | 1 | 352 | 0.0028 | 285 | c.*51 others(296): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4165 | chr19 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1616752 | A | ACACTGCC others(278): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0065 a0001c0001t0030g0034 |
2 | 106 | 0.0189 | 285 | c.100 others(306): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADGRB3_chr6_68630282_69394506 | 69100856 | A | AGGAAGGA others(278): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0090 | 1 | 120 | 0.0083 | 285 | c.248 others(306): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 17/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69100856 | A | AGGAAGGA others(278): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020 | 1 | 120 | 0.0083 | 285 | c.248 others(306): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 17/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61847874 | A | AAAATATA others(278): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0037 | a0001c0003t0037g0045 | 1 | 58 | 0.0172 | 285 | c.148 others(306): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 9/26 | chr4 | TogoVar | |||||||
ADGRL3_chr4_61195326_62083335 | 61847919 | A | ATATATAT others(278): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0004 | a0001c0004t0025 | a0001c0004t0025g0010 | 1 | 58 | 0.0172 | 285 | c.148 others(306): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15530017 | G | GATATTCT others(278): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 236 | 0.0042 | 285 | c.409 others(304): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15530109 | T | TACGTATT others(278): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 236 | 0.0042 | 285 | c.409 others(304): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15530136 | T | TACGTATT others(278): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 236 | 0.0042 | 285 | c.409 others(304): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15530136 | T | TACGTATT others(278): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01070.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 others(12): Show |
15 | 236 | 0.0636 | 285 | c.409 others(304): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15530136 | T | TACGTATT others(278): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 236 | 0.0042 | 285 | c.409 others(304): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15530163 | T | TACGTATT others(278): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02129.hp1 HG02273.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0105 others(1): Show |
4 | 236 | 0.0170 | 285 | c.409 others(304): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 402282 | T | TGGAAGGC others(278): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG02896.hp2 others(2): Show |
a0004 | a0004c0003 | a0004c0003t0014a0004c0003t0027 | a0004c0003t0014g0220 a0004c0003t0014g0236 a0004c0003t0014g0240 others(2): Show |
5 | 268 | 0.0187 | 285 | c.352 others(304): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367815 | T | TATATAAT others(278): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 284 | 0.0035 | 285 | c.891 others(304): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 431500 | C | CGTGGGTA others(278): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0028 | a0028c0019 | a0028c0019t0001 | a0028c0019t0001g0079 | 1 | 286 | 0.0035 | 285 | c.539 others(300): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687156 | C | CCCCCGTG others(278): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 246 | 0.0041 | 285 | c.-15 others(296): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1311 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687327 | C | CTTCCCAC others(278): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 246 | 0.0041 | 285 | c.-17 others(296): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1482 | chr8 | TogoVar | |||||||
ARL13A_chrX_100964708_100995831 | 100972874 | A | AGTAGGGG others(278): Show |
intron_variant | MODIFIER | HG04184.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0117 |
2 | 280 | 0.0071 | 285 | c.-14 others(300): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972874 | A | AGTAGGGG others(278): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 280 | 0.0036 | 285 | c.-14 others(300): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972874 | A | AGTAGGGG others(278): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 280 | 0.0036 | 285 | c.-14 others(300): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972874 | A | AGTAGGGG others(278): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 280 | 0.0036 | 285 | c.-14 others(300): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972874 | A | AGTAGGGG others(278): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 a0001c0001t0001g0181 |
2 | 280 | 0.0071 | 285 | c.-14 others(300): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972874 | A | AGTAGGGG others(278): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(146): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(107): Show |
149 | 280 | 0.5321 | 285 | c.-14 others(300): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972874 | A | AGTAGGGG others(278): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 280 | 0.0036 | 285 | c.-14 others(300): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972874 | A | AGTAGGGG others(278): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18969.hp2 NA19055.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0108 |
4 | 280 | 0.0143 | 285 | c.-14 others(300): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972874 | A | AGTAGGGG others(278): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 280 | 0.0036 | 285 | c.-14 others(300): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972874 | A | AGTAGGGG others(278): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 280 | 0.0036 | 285 | c.-14 others(300): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049620 | G | GGGGGCAG others(278): Show |
downstream_gene_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0234 | 1 | 308 | 0.0033 | 285 | c.*51 others(296): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2483 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050198 | T | TGGGGGCA others(278): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 308 | 0.0033 | 285 | c.*45 others(296): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1905 | chr8 | TogoVar | |||||||
ASPG_chr14_104080700_104120582 | 104085483 | A | ACCCCGCC others(278): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0028 | 1 | 368 | 0.0027 | 285 | c.-28 others(294): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 216 | chr14 | TogoVar | |||||||
ASPG_chr14_104080700_104120582 | 104085483 | A | ACCCCGCC others(278): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0100 | 1 | 368 | 0.0027 | 285 | c.-28 others(294): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 216 | chr14 | TogoVar | |||||||
ASPG_chr14_104080700_104120582 | 104085483 | A | ACCCCGCC others(278): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 368 | 0.0027 | 285 | c.-28 others(294): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 216 | chr14 | TogoVar | |||||||
ASPG_chr14_104080700_104120582 | 104085483 | A | ACCCCGCC others(278): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 HG01515.hp2 HG01517.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0003 | a0001c0001t0001g0005 a0003c0004t0003g0026 |
3 | 368 | 0.0082 | 285 | c.-28 others(294): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 216 | chr14 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106251644 | A | AGAGGGAG others(278): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 358 | 0.0028 | 285 | c.479 others(302): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106251648 | G | GGAGGGAG others(278): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0004t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0020 others(39): Show |
46 | 358 | 0.1285 | 285 | c.479 others(302): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83026615 | T | TACACAGA others(278): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0007 | 1 | 266 | 0.0038 | 285 | c.297 others(302): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 374778 | A | AAGGGAGG others(278): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0004 | a0004c0013 | a0004c0013t0002 | a0004c0013t0002g0022 | 1 | 184 | 0.0054 | 285 | c.784 others(300): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159501205 | T | TTATATAT others(278): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0059 | 1 | 216 | 0.0046 | 285 | c.-2- others(302): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159501205 | T | TTATATAT others(278): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 216 | 0.0046 | 285 | c.-2- others(302): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCTCCTC others(278): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 330 | 0.0030 | 285 | c.431 others(302): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 279065 | A | AGGGCGGG others(278): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG02135.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0059 others(7): Show |
13 | 410 | 0.0317 | 285 | c.465 others(300): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C8orf90_chr8_141509671_141523729 | 141515285 | T | TCCACACT others(278): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 450 | 0.0022 | 285 | c.79+ others(298): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85614203 | T | TGATGATT others(278): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02451.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0040 | a0001c0001t0002g0023 a0001c0001t0014g0021 a0001c0001t0014g0118 others(1): Show |
4 | 146 | 0.0274 | 285 | c.62- others(304): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135847949 | G | GGGGAAGG others(278): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 340 | 0.0029 | 285 | c.104 others(304): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 7/16 | chr9 | TogoVar | |||||||
CAMSAP1_chr9_135803487_135912546 | 135847949 | G | GGGGGAAG others(278): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 340 | 0.0029 | 285 | c.104 others(304): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 7/16 | chr9 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44182285 | C | CCACACAC others(278): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0397 | 1 | 460 | 0.0022 | 285 | c.193 others(302): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |