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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
THSD4_chr15_71110471_71788383 | 71199804 | G | GTGTGTGT others(901): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0032 | 1 | 86 | 0.0116 | 908 | c.100 others(927): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(901): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 35 | 0.0286 | 908 | c.*35 others(927): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(902): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0095 | 1 | 3 | 0.3333 | 909 | c.267 others(928): 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(902): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0065 | 1 | 3 | 0.3333 | 909 | c.267 others(928): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144557348 | G | GTAGTATT others(902): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0007 | a0001c0007t0017 | a0001c0007t0017g0015 | 1 | 192 | 0.0052 | 909 | c.513 others(926): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144557348 | G | GTAGTATT others(902): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(5): Show |
a0001a0003 | a0001c0003a0001c0005a0001c0010others(1): Show | a0001c0003t0001a0001c0003t0009a0001c0005t0001others(3): Show | a0001c0003t0001g0004 a0001c0003t0001g0011 a0001c0003t0009g0003 others(5): Show |
8 | 199 | 0.0402 | 909 | c.513 others(926): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144557348 | G | GTAGTATT others(902): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0095 | 1 | 192 | 0.0052 | 909 | c.513 others(926): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144557348 | G | GTAGTATT others(902): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0074 | 1 | 192 | 0.0052 | 909 | c.513 others(926): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(902): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 97 | 0.0103 | 909 | c.245 others(926): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(902): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0133 | 1 | 2 | 0.5000 | 909 | c.162 others(930): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45988420 | G | GGGGGTCC others(902): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0048 | 1 | 125 | 0.0080 | 909 | c.805 others(924): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TCACCACT others(902): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0223 | 1 | 137 | 0.0073 | 909 | c.724 others(928): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400963 | C | CACCTCCA others(902): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0021 | a0021c0126 | a0021c0126t0002 | a0021c0126t0002g0122 | 1 | 227 | 0.0044 | 909 | c.323 others(928): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400977 | T | TCACCATC others(902): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0105 | a0002c0105t0005 | a0002c0105t0005g0045 | 1 | 220 | 0.0045 | 909 | c.323 others(928): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634611 | C | CCCTTCCT others(902): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 192 | 0.0052 | 909 | c.105 others(926): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634611 | C | CCCTTCCT others(902): Show |
intron_variant | MODIFIER | NA18983.hp1 NA19009.hp1 NA19085.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 others(1): Show |
4 | 195 | 0.0205 | 909 | c.105 others(926): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GGTA1_chr9_121450040_121504844 | 121464630 | C | CAAAACAA others(902): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02055.hp1 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 |
3 | 316 | 0.0095 | 909 | c.81- others(924): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
GGTA1_chr9_121450040_121504844 | 121464990 | A | AAAAAAAA others(902): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 334 | 0.0030 | 909 | c.81- others(924): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
GGTA1_chr9_121450040_121504844 | 121464991 | A | AAAAAAAA others(902): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01975.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 a0001c0001t0002g0254 a0001c0001t0002g0259 others(1): Show |
4 | 335 | 0.0119 | 909 | c.81- others(924): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
GLB1L3_chr11_134271379_134324564 | 134308472 | A | ACCACCAC others(902): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0148 | 1 | 312 | 0.0032 | 909 | c.962 others(926): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | chr11 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(902): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0065 | 1 | 10 | 0.1000 | 909 | c.310 others(924): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152587 | C | CCACCACT others(902): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 225 | 0.0044 | 909 | c.804 others(926): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152587 | C | CCACCACT others(902): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 225 | 0.0044 | 909 | c.804 others(926): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152587 | C | CCACCACT others(902): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0170 others(3): Show |
6 | 230 | 0.0261 | 909 | c.804 others(926): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632693 | G | GCCTCCTT others(902): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0014 | a0002c0014t0002 | a0002c0014t0002g0059 | 1 | 100 | 0.0100 | 909 | c.56- others(926): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859506 | C | CAGTGGTG others(902): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 283 | 0.0035 | 909 | c.153 others(928): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(902): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0028 | 1 | 125 | 0.0080 | 909 | c.-49 others(920): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876829 | T | TGGAGGTT others(902): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 199 | 0.0050 | 909 | c.224 others(928): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877297 | G | GGGAGATT others(902): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 249 | 0.0040 | 909 | c.224 others(928): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877464 | A | ATTATGGA others(902): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0247 | 1 | 153 | 0.0065 | 909 | c.224 others(928): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MLC1_chr22_50054391_50090426 | 50057586 | T | TGGGGGTC others(902): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0103 |
2 | 195 | 0.0103 | 909 | c.*39 others(920): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 1804 | chr22 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(902): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02129.hp2 HG02165.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0310 a0001c0001t0003g0313 a0001c0001t0003g0314 others(2): Show |
5 | 6 | 0.8333 | 909 | c.734 others(926): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(902): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 2 | 0.5000 | 909 | c.734 others(926): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(902): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0311 | 1 | 2 | 0.5000 | 909 | c.734 others(926): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(902): Show |
intron_variant | MODIFIER | HG00140.hp2 HG04228.hp2 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0004 a0007c0008t0001g0013 |
2 | 25 | 0.0800 | 909 | c.371 others(926): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(902): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0040 | a0040c0056 | a0040c0056t0001 | a0040c0056t0001g0121 | 1 | 24 | 0.0417 | 909 | c.371 others(926): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(902): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02155.hp1 |
a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0150 a0005c0003t0001g0152 |
2 | 25 | 0.0800 | 909 | c.371 others(926): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(902): Show |
intron_variant | MODIFIER | NA18964.hp1 NA18994.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040 a0001c0001t0001g0171 a0001c0001t0002g0170 |
3 | 69 | 0.0435 | 909 | c.306 others(928): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(902): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0045 | 1 | 7 | 0.1429 | 909 | c.27+ others(926): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(902): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0029 | 1 | 7 | 0.1429 | 909 | c.27+ others(926): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431967 | T | TAGGGTGG others(902): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0266 | 1 | 320 | 0.0031 | 909 | c.101 others(926): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432079 | G | GTGGACAG others(902): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0158 | 1 | 356 | 0.0028 | 909 | c.101 others(926): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432102 | C | CAGGGTGG others(902): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0265 | 1 | 182 | 0.0055 | 909 | c.101 others(926): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC31A1_chr9_113216544_113269492 | 113250305 | T | TAAGAAAA others(902): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01168.hp1 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0330 a0001c0001t0022g0331 |
2 | 376 | 0.0053 | 909 | c.-35 others(926): Show |
SLC31A1 | ENSG00000136868.11 | transcript | ENST00000374212.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(902): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0319 | 1 | 283 | 0.0035 | 909 | c.-12 others(920): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(902): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 121 | 0.0083 | 909 | c.-78 others(928): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(902): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02723.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0017 | a0001c0001t0001g0055 a0001c0001t0009g0004 a0001c0001t0017g0109 |
3 | 33 | 0.0909 | 909 | c.638 others(924): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828693 | G | GAGGGAGA others(902): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006 | 1 | 82 | 0.0122 | 909 | c.79+ others(926): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50057586 | T | TGGGGGTC others(902): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02630.hp1 |
a0001a0004 | a0001c0019a0004c0004 | a0001c0019t0001a0004c0004t0003 | a0001c0019t0001g0192 a0004c0004t0003g0191 a0004c0004t0003g0193 |
3 | 206 | 0.0146 | 909 | c.-39 others(924): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(902): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0105 | 1 | 341 | 0.0029 | 909 | c.-6- others(924): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |