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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRYBG1_chr6_106355717_106577017 | 106483401 | T | TATATATA others(96): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0162 | 1 | 225 | 0.0044 | 103 | c.313 others(122): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CYP2A7_chr19_40870439_40887231 | 40880810 | A | AGAGAGAG others(96): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0019 | a0019c0025 | a0019c0025t0010 | a0019c0025t0010g0085 | 1 | 356 | 0.0028 | 103 | c.344 others(118): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
CYTH3_chr7_6156779_6277624 | 6259759 | A | ATATATAT others(96): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0328 | 1 | 265 | 0.0038 | 103 | c.34+ others(120): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
CYTH3_chr7_6156779_6277624 | 6259762 | T | TATATATA others(96): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0296 | 1 | 340 | 0.0029 | 103 | c.34+ others(120): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
CYTH3_chr7_6156779_6277624 | 6259819 | T | TATATATA others(96): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0216 | 1 | 300 | 0.0033 | 103 | c.34+ others(120): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
CYTH3_chr7_6156779_6277624 | 6259819 | T | TATATATT others(96): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0214 | 1 | 300 | 0.0033 | 103 | c.34+ others(120): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
DCAF17_chr2_171429226_171490052 | 171438909 | T | TAGAGATA others(96): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(91): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0002a0001c0002t0015a0001c0002t0023others(4): Show | a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0008 others(72): Show |
94 | 358 | 0.2626 | 103 | c.230 others(120): Show |
DCAF17 | ENSG00000115827.14 | transcript | ENST00000375255.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35826527 | A | AAGGAAGG others(96): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0128 | 1 | 228 | 0.0044 | 103 | c.140 others(122): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 10/16 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35826539 | A | AAGGAAGG others(96): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0126 | 1 | 114 | 0.0088 | 103 | c.140 others(122): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 10/16 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35826539 | A | AAGGAAGG others(96): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0224 | 1 | 114 | 0.0088 | 103 | c.140 others(122): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 10/16 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35826539 | A | AAGGAAGG others(96): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 114 | 0.0088 | 103 | c.140 others(122): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 10/16 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35826539 | A | AAGGAAGG others(96): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0008 | a0001c0008t0010 | a0001c0008t0010g0110 | 1 | 114 | 0.0088 | 103 | c.140 others(122): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 10/16 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35826539 | A | AAGGAAGG others(96): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0043 | 1 | 114 | 0.0088 | 103 | c.140 others(122): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 10/16 | chr13 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251384 | C | CCCCACAC others(96): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0022 | 1 | 111 | 0.0090 | 103 | c.207 others(122): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DECR2_chr16_396885_417482 | 397726 | C | CGGGGGTG others(96): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 325 | 0.0031 | 103 | c.-42 others(114): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4158 | chr16 | TogoVar | |||||||
DENND4C_chr9_19225693_19379281 | 19365708 | T | TAGAACTG others(96): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01433.hp2 HG02300.hp1 |
a0001a0011 | a0001c0001a0011c0013 | a0001c0001t0002a0011c0013t0002 | a0001c0001t0002g0062 a0001c0001t0002g0064 a0011c0013t0002g0056 |
3 | 250 | 0.0120 | 103 | c.552 others(122): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DENND6B_chr22_50304030_50332012 | 50316922 | G | GGGGGGGG others(96): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 315 | 0.0032 | 103 | c.453 others(118): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 5/19 | chr22 | TogoVar | |||||||
DENND6B_chr22_50304030_50332012 | 50316922 | G | GGGGGGGG others(96): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 315 | 0.0032 | 103 | c.453 others(118): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 5/19 | chr22 | TogoVar | |||||||
DEPDC1B_chr5_60591912_60705166 | 60667360 | T | TAAAATGG others(96): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(66): Show |
73 | 134 | 0.5448 | 103 | c.314 others(122): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313788 | G | GCGCCGCC others(96): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 26 | 0.0385 | 103 | c.*27 others(114): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 795 | chr8 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313788 | G | GCGCCGCC others(96): Show |
downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 26 | 0.0385 | 103 | c.*27 others(114): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 795 | chr8 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775687 | A | ATGTATTC others(96): Show |
intron_variant | MODIFIER | HG02818.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0126 |
2 | 272 | 0.0074 | 103 | c.363 others(120): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2228119 | A | AAGGGAGG others(96): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0012 | 1 | 43 | 0.0233 | 103 | c.805 others(120): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50593744 | T | TCCTCTCC others(96): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0055 | 1 | 259 | 0.0039 | 103 | c.101 others(122): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50598774 | C | CCCTCTCC others(96): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0261 | 1 | 276 | 0.0036 | 103 | c.101 others(122): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50598824 | T | TCTCCCCC others(96): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0049 | 1 | 194 | 0.0052 | 103 | c.101 others(122): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 902663 | A | ATGGAAAG others(96): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 40 | 0.0250 | 103 | c.19- others(118): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78541132 | G | GTGAGCGG others(96): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0019 | a0019c0135 | a0019c0135t0001 | a0019c0135t0001g0180 | 1 | 204 | 0.0049 | 103 | c.253 others(122): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237123 | G | GAGAGAGA others(96): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 248 | 0.0040 | 103 | c.*29 others(114): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2843 | chr11 | TogoVar | |||||||
DOCK11_chrX_118490815_118691147 | 118647973 | T | TATATAAT others(96): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02723.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0203 |
3 | 192 | 0.0156 | 103 | c.439 others(120): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 40/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 277460 | A | AAGAGAAG others(96): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0134 | a0003c0134t0001 | a0003c0134t0001g0217 | 1 | 217 | 0.0046 | 103 | c.156 others(120): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 2/47 | chr9 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 277460 | A | AAGAGAAG others(96): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0097 | a0002c0097t0001 | a0002c0097t0001g0010 | 1 | 217 | 0.0046 | 103 | c.156 others(120): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 2/47 | chr9 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 277460 | A | AAGAGAAG others(96): Show |
intron_variant | MODIFIER | HG02922.hp2 HG06807.hp2 |
a0043a0052 | a0043c0088a0052c0067 | a0043c0088t0001a0052c0067t0003 | a0043c0088t0001g0083 a0052c0067t0003g0077 |
2 | 218 | 0.0092 | 103 | c.156 others(120): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 2/47 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137551734 | A | AGCCCCGC others(96): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0236 | 1 | 177 | 0.0056 | 103 | c.*35 others(114): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 2709 | chr9 | TogoVar | |||||||
DZIP3_chr3_108584722_108699840 | 108633875 | A | ATCTCTCT others(96): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0217 | 1 | 286 | 0.0035 | 103 | c.816 others(118): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 9/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 20989056 | A | AGGAGGGG others(96): Show |
intron_variant | MODIFIER | HG02717.hp1 NA19043.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0016 |
3 | 106 | 0.0283 | 103 | c.178 others(120): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 7/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20989056 | A | AGGAGGGG others(96): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 104 | 0.0096 | 103 | c.178 others(120): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 7/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20989056 | A | AGGAGGGG others(96): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02630.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0026 | a0001c0002t0001g0077 a0001c0002t0001g0088 a0001c0002t0026g0306 |
3 | 106 | 0.0283 | 103 | c.178 others(120): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 7/36 | chr1 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139151024 | A | AAAACAAG others(96): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 335 | 0.0030 | 103 | c.-25 others(124): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139151024 | A | AAAACAAG others(96): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 335 | 0.0030 | 103 | c.-25 others(124): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084099 | T | TATGATAT others(96): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0043 | 1 | 335 | 0.0030 | 103 | c.221 others(122): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084394 | G | GATATATC others(96): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0162 | 1 | 295 | 0.0034 | 103 | c.221 others(122): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084394 | G | GATATATC others(96): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02083.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0208 others(6): Show |
9 | 303 | 0.0297 | 103 | c.221 others(122): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
EPHA8_chr1_22558489_22608595 | 22599827 | G | GAAGGGGA others(96): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18959.hp2 NA18982.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0007 a0001c0001t0001g0195 a0003c0007t0001g0007 |
4 | 6 | 0.6667 | 103 | c.238 others(120): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPS8L2_chr11_701231_732727 | 720978 | G | GCCGGCAG others(96): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0130 | 1 | 228 | 0.0044 | 103 | c.558 others(116): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212249437 | T | TAGAAAAG others(96): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0023 | 1 | 43 | 0.0233 | 103 | c.83- others(122): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501447 | C | CTATATAT others(96): Show |
intron_variant | MODIFIER | NA19055.hp1 NA19077.hp2 |
a0001 | a0001c0004a0001c0017 | a0001c0004t0005a0001c0017t0005 | a0001c0004t0005g0225 a0001c0017t0005g0082 |
2 | 151 | 0.0132 | 103 | c.238 others(122): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
F7_chr13_113100791_113125685 | 113107448 | A | AGGGTGTC others(96): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 361 | 0.0028 | 103 | c.64+ others(118): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113108350 | A | AGGGTGTC others(96): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 393 | 0.0025 | 103 | c.65- others(118): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113108433 | A | AGTGGGTG others(96): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0063 | 1 | 376 | 0.0027 | 103 | c.65- others(118): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |