| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ANKRD29_chr18_23593926_23667911 | 23615974 | C | CTATGTAT others(233): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(102): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0011others(99): Show | 105 | 352 | 0.2983 | 240 | c.723 others(257): Show |
ANKRD29 | ENSG00000154065.17 | transcript | ENST00000592179.6 | protein_coding | 8/9 | chr18 | TogoVar | ||||||
| AP3M1_chr10_74115255_74155828 | 74141461 | T | TAAAAAAT others(233): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0254 | 1 | 334 | 0.0030 | 240 | c.-3- others(255): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
| APOB_chr2_20996429_21049073 | 21000992 | C | CATTTTAA others(233): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0006 | a0006c0076 | a0006c0076t0001 | a0006c0076t0001g0137 | 1 | 350 | 0.0029 | 240 | c.*73 others(249): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 436 | chr2 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144612388 | A | ACCAGCCA others(233): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 246 | 0.0041 | 240 | c.-81 others(257): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144612388 | A | ACCAGCCA others(233): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0120a0001c0001t0008g0121a0001c0001t0008g0166 | 3 | 246 | 0.0122 | 240 | c.-81 others(257): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144612388 | A | ACCAGCCA others(233): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(165): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0026a0001c0001t0001g0029a0001c0001t0001g0030others(165): Show | 168 | 246 | 0.6829 | 240 | c.-81 others(257): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144612687 | C | CGACAGAG others(233): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 246 | 0.0041 | 240 | c.-81 others(257): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144620268 | T | TGTGTGCC others(233): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 246 | 0.0041 | 240 | c.-81 others(259): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ARHGAP6_chrX_11132544_11670920 | 11590775 | C | CAAACAGA others(233): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 144 | 0.0069 | 240 | c.588 others(259): Show |
ARHGAP6 | ENSG00000047648.23 | transcript | ENST00000337414.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1839865 | A | ACTGTCCG others(233): Show |
intron_variant | MODIFIER | NA18959.hp1 NA19000.hp2 NA19057.hp1 |
a0001 | a0001c0018a0001c0115a0001c0118 | a0001c0018t0025a0001c0115t0005a0001c0118t0008 | a0001c0018t0025g0296a0001c0115t0005g0286a0001c0118t0008g0294 | 3 | 363 | 0.0083 | 240 | c.-47 others(257): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARHGEF16_chr1_3449665_3486113 | 3475042 | A | AGCCTTTC others(233): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0011 | a0002c0011t0009 | a0002c0011t0009g0285 | 1 | 334 | 0.0030 | 240 | c.138 others(257): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ARHGEF7_chr13_111110310_111310732 | 111221368 | T | TAGATATA others(233): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0121 | 1 | 274 | 0.0037 | 240 | c.670 others(257): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ARL13B_chr3_93975155_94060678 | 94043558 | C | CTCCCCCC others(233): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 264 | 0.0038 | 240 | c.102 others(257): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
| ASPG_chr14_104080700_104120582 | 104085475 | C | CGCCCCCA others(233): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG02886.hp1 HG02976.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0006 | a0001c0001t0001g0135a0001c0001t0001g0158a0002c0003t0006g0050others(1): Show | 6 | 368 | 0.0163 | 240 | c.-29 others(249): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 224 | chr14 | TogoVar | ||||||
| ATOH8_chr2_85748991_85796383 | 85767580 | T | TCCTTCCC others(233): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 378 | 0.0027 | 240 | c.960 others(257): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ATP10A_chr15_25673712_25868327 | 25757917 | A | ACTCATTC others(233): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0006 | a0006c0060 | a0006c0060t0001 | a0006c0060t0001g0164 | 1 | 300 | 0.0033 | 240 | c.655 others(259): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25758753 | A | ACTCATTC others(233): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0236 | 1 | 300 | 0.0033 | 240 | c.654 others(259): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112787436 | T | TCACACCG others(233): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0252 | 1 | 254 | 0.0039 | 240 | c.162 others(257): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112873246 | A | ATGTTGTG others(233): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02572.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0013 | a0001c0002t0001g0032a0001c0002t0013g0111a0001c0002t0013g0117others(1): Show | 4 | 254 | 0.0158 | 240 | c.305 others(257): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112873247 | T | TGTTGTGA others(233): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0017 | a0001c0017t0076 | a0001c0017t0076g0154 | 1 | 254 | 0.0039 | 240 | c.305 others(257): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATXN7L1_chr7_105599772_105881599 | 105825614 | A | AAGCATGT others(233): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 252 | 0.0040 | 240 | c.251 others(259): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(233): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 391 | 0.0026 | 240 | c.*36 others(251): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835481 | T | TGCGTGCA others(233): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 240 | c.*36 others(251): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(233): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 NA18939.hp1 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 391 | 0.0077 | 240 | c.*36 others(251): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82970656 | C | CGACCTCC others(233): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0141 | 1 | 266 | 0.0038 | 240 | c.460 others(257): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| B4GALNT3_chr12_454939_568509 | 511407 | C | CCTTCCAC others(233): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01952.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0009a0004c0005t0004 | a0001c0001t0009g0355a0004c0005t0004g0354 | 2 | 394 | 0.0051 | 240 | c.170 others(259): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| B4GALNT3_chr12_454939_568509 | 529677 | C | CTCGGTAA others(233): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(128): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0002a0001c0010others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0033others(128): Show | 131 | 394 | 0.3325 | 240 | c.170 others(257): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| B4GALNT3_chr12_454939_568509 | 529680 | G | GGTAAAGG others(233): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18997.hp2 |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0003a0005c0006t0004 | a0004c0005t0003g0163a0005c0006t0004g0020 | 2 | 394 | 0.0051 | 240 | c.170 others(257): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| B4GALNT4_chr11_364499_387117 | 374745 | A | AGGAAGGG others(233): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 184 | 0.0054 | 240 | c.784 others(255): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BAIAP2_chr17_81030151_81122434 | 81056794 | C | CTTCTGCT others(233): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01261.hp2 HG02080.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0001g0022a0001c0001t0001g0275a0001c0001t0001g0353others(13): Show | 16 | 376 | 0.0426 | 240 | c.131 others(255): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32252081 | T | TATATTAT others(233): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0219a0001c0001t0018g0227 | 2 | 290 | 0.0069 | 240 | c.426 others(259): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
| BOP1_chr8_144257045_144296438 | 144281016 | C | CGGCCTTC others(233): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02976.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0168a0001c0003t0001g0171 | 2 | 398 | 0.0050 | 240 | c.310 others(257): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
| BOP1_chr8_144257045_144296438 | 144281316 | T | TGGCCTTC others(233): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03540.hp1 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043a0001c0002t0001g0046a0001c0002t0001g0047 | 3 | 398 | 0.0075 | 240 | c.310 others(257): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
| BOP1_chr8_144257045_144296438 | 144281444 | T | TCTCACTT others(233): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0330a0001c0001t0001g0331others(1): Show | 5 | 398 | 0.0126 | 240 | c.310 others(257): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
| BSG_chr19_567596_588493 | 585322 | A | ACCCCGTC others(233): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 306 | 0.0033 | 240 | c.*25 others(251): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1830 | chr19 | TogoVar | ||||||
| BTAF1_chr10_91918770_92036437 | 92012233 | C | CCTCCTCC others(233): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 330 | 0.0030 | 240 | c.431 others(257): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BTAF1_chr10_91918770_92036437 | 92012233 | C | CCTCCTCC others(233): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0212 | 1 | 330 | 0.0030 | 240 | c.431 others(257): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| C1orf159_chr1_1076823_1121089 | 1077845 | A | AGGCTGAG others(233): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 326 | 0.0031 | 240 | c.*50 others(251): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3977 | chr1 | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1077875 | A | AGGCTGAG others(233): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 326 | 0.0031 | 240 | c.*50 others(251): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3947 | chr1 | TogoVar | ||||||
| C20orf96_chr20_265863_295750 | 279045 | C | CGGGACGG others(233): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0064 | 1 | 410 | 0.0024 | 240 | c.465 others(255): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1059848 | T | TCTTAGTG others(233): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01934.hp2 HG01943.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0211a0001c0001t0002g0220a0001c0001t0002g0221others(2): Show | 5 | 326 | 0.0153 | 240 | c.130 others(259): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| C8A_chr1_56849797_56923223 | 56885315 | A | AATATATA others(233): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 366 | 0.0027 | 240 | c.856 others(255): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CABLES1_chr18_23130485_23265470 | 23218564 | C | CCTCCCGC others(233): Show |
intron_variant | MODIFIER | NA18966.hp1 NA19002.hp1 NA19083.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0023a0002c0002t0003 | a0001c0001t0004g0225a0001c0001t0023g0255a0002c0002t0003g0230 | 3 | 278 | 0.0108 | 240 | c.108 others(259): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CABLES1_chr18_23130485_23265470 | 23218588 | C | CCTCCCGC others(233): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0005 | a0002c0005t0051 | a0002c0005t0051g0120 | 1 | 278 | 0.0036 | 240 | c.108 others(259): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185667 | G | GGAGGCGT others(233): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02280.hp1 NA18990.hp1 others(1): Show |
a0001a0073 | a0001c0001a0073c0125 | a0001c0001t0002a0001c0001t0015a0073c0125t0001 | a0001c0001t0002g0066a0001c0001t0002g0098a0001c0001t0015g0134others(1): Show | 4 | 338 | 0.0118 | 240 | c.300 others(257): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185776 | G | GGAGGCGT others(233): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 338 | 0.0030 | 240 | c.300 others(257): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1199270 | C | CCCCCACC others(233): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0012 | a0012c0036 | a0012c0036t0001 | a0012c0036t0001g0035 | 1 | 338 | 0.0030 | 240 | c.803 others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1199270 | C | CCCCCACC others(233): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG02280.hp1 |
a0011a0071a0073 | a0011c0020a0071c0124a0073c0125 | a0011c0020t0041a0071c0124t0003a0073c0125t0001 | a0011c0020t0041g0297a0071c0124t0003g0103a0073c0125t0001g0047 | 3 | 338 | 0.0089 | 240 | c.803 others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1199270 | C | CCCCCATC others(233): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02132.hp1 |
a0003a0080 | a0003c0015a0080c0045 | a0003c0015t0004a0080c0045t0005 | a0003c0015t0004g0060a0080c0045t0005g0274 | 2 | 338 | 0.0059 | 240 | c.803 others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA2D2_chr3_50357613_50508634 | 50480935 | G | GAAGTGGG others(233): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 234 | 0.0043 | 240 | c.207 others(257): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar |