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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(906): Show |
intron_variant | MODIFIER | HG02109.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0067a0001c0001t0007g0077 | 2 | 112 | 0.0179 | 913 | c.638 others(928): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370163 | A | ATGTGTGT others(906): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0388 | 1 | 468 | 0.0021 | 913 | c.-6- others(928): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370250 | C | CGTGTGTA others(906): Show |
intron_variant | MODIFIER | NA18978.hp1 NA18994.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0137a0001c0002t0003g0138 | 2 | 468 | 0.0043 | 913 | c.-6- others(928): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(906): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02004.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0132a0001c0002t0003g0133 | 2 | 468 | 0.0043 | 913 | c.-6- others(928): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(906): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18974.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0162a0001c0002t0003g0166 | 2 | 468 | 0.0043 | 913 | c.-6- others(928): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(907): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0247 | 1 | 306 | 0.0033 | 914 | c.130 others(933): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(907): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0276 | 1 | 310 | 0.0032 | 914 | c.267 others(933): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(907): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01361.hp2 HG01928.hp1 others(22): Show |
a0001a0003a0012 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0258a0001c0001t0001g0294a0001c0001t0003g0004others(21): Show | 25 | 310 | 0.0807 | 914 | c.267 others(933): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(907): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 238 | 0.0042 | 914 | c.787 others(929): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687228 | C | CCCCGTGA others(907): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 246 | 0.0041 | 914 | c.-16 others(925): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1383 | chr8 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112789593 | C | CGTAGACC others(907): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0046 | a0001c0046t0016 | a0001c0046t0016g0062 | 1 | 254 | 0.0039 | 914 | c.162 others(931): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375140 | A | AAGGGAGG others(907): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0021 | a0021c0031 | a0021c0031t0001 | a0021c0031t0001g0059 | 1 | 184 | 0.0054 | 914 | c.784 others(929): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(907): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0002a0001c0019 | a0001c0001t0003a0001c0002t0019a0001c0019t0004 | a0001c0001t0003g0217a0001c0002t0019g0095a0001c0019t0004g0216 | 3 | 242 | 0.0124 | 914 | c.276 others(929): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(907): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03225.hp2 |
a0002 | a0002c0005 | a0002c0005t0004a0002c0005t0010 | a0002c0005t0004g0220a0002c0005t0010g0007 | 2 | 242 | 0.0083 | 914 | c.276 others(929): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(907): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 | 1 | 242 | 0.0041 | 914 | c.276 others(929): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(907): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0113 | 1 | 242 | 0.0041 | 914 | c.276 others(929): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(907): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0096 | 1 | 242 | 0.0041 | 914 | c.276 others(929): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71688896 | C | CCAGGGAT others(907): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0016 | a0016c0007 | a0016c0007t0015 | a0016c0007t0015g0103 | 1 | 196 | 0.0051 | 914 | c.205 others(933): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 19/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(907): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0006 | a0006c0011 | a0006c0011t0003 | a0006c0011t0003g0089 | 1 | 236 | 0.0042 | 914 | c.342 others(933): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(907): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 320 | 0.0031 | 914 | c.937 others(929): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(907): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 396 | 0.0025 | 914 | c.513 others(931): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(907): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0007 | a0002c0007t0006 | a0002c0007t0006g0030 | 1 | 148 | 0.0068 | 914 | c.183 others(933): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(907): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0041 | a0041c0060 | a0041c0060t0001 | a0041c0060t0001g0043 | 1 | 170 | 0.0059 | 914 | c.101 others(933): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154062984 | T | TTACGATC others(907): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0013 | a0002c0013t0018 | a0002c0013t0018g0026 | 1 | 38 | 0.0263 | 914 | c.243 others(931): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | chr7 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716201 | G | GTGGGGGA others(907): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 170 | 0.0059 | 914 | c.86- others(927): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GGTA1_chr9_121450040_121504844 | 121464990 | A | AAAAAAAA others(907): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 338 | 0.0030 | 914 | c.81- others(929): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
GGTA1_chr9_121450040_121504844 | 121465394 | C | CTTGTTCT others(907): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 338 | 0.0030 | 914 | c.81- others(929): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053546 | A | ATTCCACA others(907): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0314 | 1 | 314 | 0.0032 | 914 | c.310 others(929): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602360 | T | TCTCCTGC others(907): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0012 | a0002c0012t0004 | a0002c0012t0004g0256 | 1 | 408 | 0.0025 | 914 | c.633 others(931): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KIRREL3_chr11_126418358_127005770 | 126632693 | G | GCCTCCTT others(907): Show |
intron_variant | MODIFIER | HG00738.hp1 HG04204.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0007a0001c0003t0001 | a0001c0002t0007g0045a0001c0003t0001g0078 | 2 | 114 | 0.0175 | 914 | c.56- others(931): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(907): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0123 | 1 | 424 | 0.0024 | 914 | c.-28 others(925): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | ||||||
LPP_chr3_188149157_188895671 | 188516629 | T | TAGAAATC others(907): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0003 | a0002c0003t0022 | a0002c0003t0022g0054 | 1 | 76 | 0.0132 | 914 | c.307 others(931): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MAML3_chr4_139711753_140159184 | 139726624 | C | CAAAAAAG others(907): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03834.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0027a0002c0003t0001g0070 | 2 | 152 | 0.0132 | 914 | c.233 others(931): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
MAML3_chr4_139711753_140159184 | 139726624 | C | CAAAAAAG others(907): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0126 | 1 | 152 | 0.0066 | 914 | c.233 others(931): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(907): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 272 | 0.0037 | 914 | c.250 others(929): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81850 | T | TCCCCGCG others(907): Show |
intron_variant | MODIFIER | HG02523.hp2 HG02602.hp2 NA18964.hp1 |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0001a0006c0004t0001 | a0001c0001t0001g0191a0001c0001t0001g0257a0006c0004t0001g0192 | 3 | 442 | 0.0068 | 914 | c.301 others(931): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MPG_chr16_73225_90846 | 81850 | T | TCCCCGCG others(907): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 442 | 0.0023 | 914 | c.301 others(931): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MPG_chr16_73225_90846 | 81857 | G | GCTGACCC others(907): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 442 | 0.0023 | 914 | c.301 others(931): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MPG_chr16_73225_90846 | 82247 | G | GCTCCCCA others(907): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 442 | 0.0023 | 914 | c.301 others(929): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPRL3_chr16_80386_143673 | 81850 | T | TCCCCGCG others(907): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 HG02602.hp1 NA18964.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0011t0005 | a0001c0001t0001g0071a0001c0001t0005g0045a0001c0011t0005g0083 | 3 | 350 | 0.0086 | 914 | c.*48 others(925): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3535 | chr16 | TogoVar | ||||||
NPRL3_chr16_80386_143673 | 82247 | G | GCTCCCCA others(907): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0225 | 1 | 350 | 0.0029 | 914 | c.*44 others(925): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3138 | chr16 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(907): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 914 | c.*31 others(925): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OSGIN1_chr16_83948240_83971332 | 83950683 | A | ACACACGT others(907): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 350 | 0.0029 | 914 | c.-27 others(925): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2556 | chr16 | TogoVar | ||||||
OSGIN1_chr16_83948240_83971332 | 83950683 | A | ACACACGT others(907): Show |
upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0144 | 1 | 350 | 0.0029 | 914 | c.-27 others(925): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2556 | chr16 | TogoVar | ||||||
OSGIN1_chr16_83948240_83971332 | 83950727 | G | GCACATAC others(907): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 350 | 0.0029 | 914 | c.-26 others(925): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2512 | chr16 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(907): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 178 | 0.0056 | 914 | c.773 others(929): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RABL3_chr3_120679938_120747516 | 120699116 | T | TAAGAAAA others(907): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0045 | 1 | 354 | 0.0028 | 914 | c.384 others(929): Show |
RABL3 | ENSG00000144840.10 | transcript | ENST00000273375.8 | protein_coding | 4/7 | chr3 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(907): Show |
intron_variant | MODIFIER | HG03669.hp2 HG03834.hp1 |
a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0162a0002c0025t0001g0170 | 2 | 218 | 0.0092 | 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 | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(117): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(62): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(62): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(117): Show | 120 | 218 | 0.5505 | 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.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0166 | 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 |