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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(907): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0059 | 1 | 218 | 0.0046 | 914 | c.120 others(933): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(907): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01891.hp1 HG02257.hp2 others(15): Show |
a0001a0006a0008others(3): Show | a0001c0003a0001c0011a0001c0055others(8): Show | a0001c0003t0002a0001c0011t0001a0001c0055t0001others(8): Show | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0011t0001g0003others(15): Show | 18 | 218 | 0.0826 | 914 | c.120 others(933): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(907): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0070 | a0001c0070t0001 | a0001c0070t0001g0002 | 1 | 218 | 0.0046 | 914 | c.120 others(933): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(907): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01169.hp1 HG03453.hp1 |
a0001a0004a0007 | a0001c0067a0004c0072a0007c0038 | a0001c0067t0001a0004c0072t0001a0007c0038t0002 | a0001c0067t0001g0183a0004c0072t0001g0125a0007c0038t0002g0215 | 3 | 218 | 0.0138 | 914 | c.120 others(933): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(907): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18955.hp1 NA18970.hp2 others(1): Show |
a0001 | a0001c0022a0001c0029 | a0001c0022t0001a0001c0029t0001 | a0001c0022t0001g0051a0001c0022t0001g0052a0001c0029t0001g0074others(1): Show | 4 | 218 | 0.0184 | 914 | c.120 others(933): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(907): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0021 | a0002c0021t0019 | a0002c0021t0019g0037 | 1 | 314 | 0.0032 | 914 | c.916 others(931): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(907): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03195.hp1 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0022a0001c0003t0010g0023 | 2 | 370 | 0.0054 | 914 | c.284 others(933): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098270 | G | GCCCCCCT others(907): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0037 | a0003c0037t0003 | a0003c0037t0003g0008 | 1 | 118 | 0.0085 | 914 | c.125 others(931): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
SLC31A1_chr9_113216544_113269492 | 113250305 | T | TAAGAAAA others(907): Show |
intron_variant | MODIFIER | HG01496.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0065 | a0001c0001t0012g0323a0001c0001t0065g0325 | 2 | 418 | 0.0048 | 914 | c.-35 others(931): Show |
SLC31A1 | ENSG00000136868.11 | transcript | ENST00000374212.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(907): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0233 | 1 | 373 | 0.0027 | 914 | c.115 others(931): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(907): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0161 | 1 | 373 | 0.0027 | 914 | c.115 others(931): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414484 | T | TGGAGGGG others(907): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 373 | 0.0027 | 914 | c.115 others(931): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325271 | G | GGGGGGCG others(907): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 150 | 0.0067 | 914 | c.531 others(931): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
STAT4_chr2_191024576_191155994 | 191144629 | T | TAGAAGAA others(907): Show |
intron_variant | MODIFIER | HG01978.hp1 HG01981.hp1 HG02004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282a0001c0001t0001g0283a0001c0001t0001g0284others(1): Show | 4 | 290 | 0.0138 | 914 | c.273 others(931): Show |
STAT4 | ENSG00000138378.19 | transcript | ENST00000392320.7 | protein_coding | 3/23 | chr2 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TTATATTA others(907): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0036 | 1 | 268 | 0.0037 | 914 | c.*73 others(925): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(907): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0034 | 1 | 112 | 0.0089 | 914 | c.638 others(929): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(907): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 112 | 0.0089 | 914 | c.638 others(929): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TMEM242_chr6_157284025_157328519 | 157312191 | T | TCCCAGTG others(907): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02083.hp1 HG02135.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0007a0001c0001t0001g0126a0001c0001t0001g0127others(4): Show | 8 | 344 | 0.0233 | 914 | c.327 others(931): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312191 | T | TCCCAGTG others(907): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02129.hp2 HG02735.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0030others(14): Show | 18 | 344 | 0.0523 | 914 | c.327 others(931): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312191 | T | TCCCAGTG others(907): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 344 | 0.0029 | 914 | c.327 others(931): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312191 | T | TCCCAGTG others(907): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 344 | 0.0029 | 914 | c.327 others(931): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113816264 | G | GTGTTTGC others(907): Show |
3_prime_UTR_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0211 | 1 | 260 | 0.0039 | 914 | c.*43 others(925): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 4366 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
TP53AIP1_chr11_128930370_128947871 | 128930893 | T | TGGGGTTA others(907): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 466 | 0.0022 | 914 | c.*46 others(925): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4476 | chr11 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204309 | T | TATGATGA others(907): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0130 | 1 | 174 | 0.0058 | 914 | c.41- others(931): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(907): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0052 | 1 | 334 | 0.0030 | 914 | c.657 others(929): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTS2_chr5_179105853_179350461 | 179277976 | C | CCCCCTCC others(908): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0246 | 1 | 276 | 0.0036 | 915 | c.535 others(932): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(908): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 182 | 0.0055 | 915 | c.505 others(934): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687370 | C | CCCCGTGA others(908): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0189 | 1 | 246 | 0.0041 | 915 | c.-17 others(926): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1525 | chr8 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099023 | C | CAGAGAGG others(908): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18947.hp2 NA18990.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0058a0001c0002t0002g0257a0001c0002t0002g0265 | 3 | 326 | 0.0092 | 915 | c.-13 others(934): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099023 | C | CAGAGAGG others(908): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0244a0001c0001t0001g0247a0001c0001t0001g0250others(55): Show | 58 | 326 | 0.1779 | 915 | c.-13 others(934): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099023 | C | CAGAGAGG others(908): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 326 | 0.0031 | 915 | c.-13 others(934): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(908): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0187a0001c0001t0005g0198 | 2 | 242 | 0.0083 | 915 | c.266 others(932): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71688896 | C | CCAGGGAT others(908): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0014 | a0002c0014t0007 | a0002c0014t0007g0143 | 1 | 196 | 0.0051 | 915 | c.205 others(934): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 19/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CDH23_chr10_71391920_71820947 | 71688896 | C | CCAGGGAT others(908): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0079 | a0002c0079t0011 | a0002c0079t0011g0032 | 1 | 196 | 0.0051 | 915 | c.205 others(934): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 19/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CDH23_chr10_71391920_71820947 | 71688896 | C | CCAGGGAT others(908): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00642.hp2 others(28): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0017a0002c0014others(27): Show | a0001c0001t0001a0001c0017t0001a0002c0014t0031others(27): Show | a0001c0001t0001g0191a0001c0017t0001g0126a0002c0014t0031g0029others(28): Show | 31 | 196 | 0.1582 | 915 | c.205 others(934): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 19/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(908): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0004 | 1 | 354 | 0.0028 | 915 | c.*69 others(926): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(908): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0008 | a0008c0073 | a0008c0073t0001 | a0008c0073t0001g0242 | 1 | 278 | 0.0036 | 915 | c.328 others(932): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(908): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 316 | 0.0032 | 915 | c.44- others(928): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(908): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0066 | a0066c0095 | a0066c0095t0001 | a0066c0095t0001g0169 | 1 | 170 | 0.0059 | 915 | c.101 others(934): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 320273 | G | GGACCGAA others(908): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0052 | a0052c0136 | a0052c0136t0001 | a0052c0136t0001g0155 | 1 | 256 | 0.0039 | 915 | c.827 others(932): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 320273 | G | GGACCGAA others(908): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02523.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0136a0003c0004t0001g0141 | 2 | 256 | 0.0078 | 915 | c.827 others(932): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(908): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 314 | 0.0032 | 915 | c.310 others(930): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(908): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0140 | 1 | 314 | 0.0032 | 915 | c.310 others(930): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(908): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 314 | 0.0032 | 915 | c.310 others(930): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(908): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00738.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0216a0001c0001t0001g0217others(11): Show | 14 | 314 | 0.0446 | 915 | c.310 others(930): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(908): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 314 | 0.0032 | 915 | c.310 others(930): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(908): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG00738.hp1 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0027a0002c0002t0006g0186 | 2 | 323 | 0.0062 | 915 | c.-36 others(926): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(908): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 915 | c.-36 others(926): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 858237 | G | GCAGTGGT others(908): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0100 | 1 | 294 | 0.0034 | 915 | c.153 others(934): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 858237 | G | GCAGTGGT others(908): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0290 | 1 | 294 | 0.0034 | 915 | c.153 others(934): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar |