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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF16_chr8_144925358_144955880 | 144946625 | T | TGGGCCTG others(899): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03098.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0137a0001c0003t0001g0098a0001c0003t0001g0107 | 3 | 404 | 0.0074 | 906 | c.-9- others(919): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
ZNF85_chr19_20918251_20955697 | 20919187 | A | ATATACAA others(899): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG03139.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0048 | 2 | 383 | 0.0052 | 906 | c.-42 others(917): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4063 | chr19 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(900): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0003 | a0003c0015 | a0003c0015t0003 | a0003c0015t0003g0041 | 1 | 228 | 0.0044 | 907 | c.259 others(928): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419014 | T | CCCTTCCT others(900): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 262 | 0.0038 | 907 | c.106 others(926): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(900): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | 907 | c.*10 others(920): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375209 | A | AGGGAGAG others(900): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0004 | a0004c0039 | a0004c0039t0001 | a0004c0039t0001g0025 | 1 | 184 | 0.0054 | 907 | c.784 others(922): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DCDC2_chr6_24166755_24363059 | 24238178 | G | GAGGGAGG others(900): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0058 | 1 | 216 | 0.0046 | 907 | c.923 others(926): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251046 | A | AACACCCC others(900): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0106 | 1 | 116 | 0.0086 | 907 | c.207 others(926): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486886 | A | ACCTGCCC others(900): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 NA18950.hp1 NA18970.hp1 others(7): Show |
a0001 | a0001c0003a0001c0011 | a0001c0003t0001a0001c0011t0001 | a0001c0003t0001g0001a0001c0003t0001g0003a0001c0003t0001g0027others(2): Show | 10 | 374 | 0.0267 | 907 | c.*14 others(918): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1127 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486886 | A | ACCTGCCC others(900): Show |
downstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0172 | 1 | 374 | 0.0027 | 907 | c.*14 others(918): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1127 | chr20 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71679943 | T | TCCTCCTC others(900): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0074 | 1 | 76 | 0.0132 | 907 | c.150 others(926): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GGTA1_chr9_121450040_121504844 | 121464630 | C | CAAAACAA others(900): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01167.hp2 HG01169.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0251a0001c0001t0002g0252a0001c0001t0002g0258others(5): Show | 8 | 338 | 0.0237 | 907 | c.81- others(922): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(900): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0220 | 1 | 276 | 0.0036 | 907 | c.*65 others(918): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(900): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 312 | 0.0032 | 907 | c.-41 others(922): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGCGAC others(900): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 375 | 0.0027 | 907 | c.-22 others(918): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(900): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0091 | 1 | 114 | 0.0088 | 907 | c.56- others(924): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(900): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0097 | 1 | 114 | 0.0088 | 907 | c.56- others(924): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(900): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0034 | 1 | 114 | 0.0088 | 907 | c.56- others(924): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(900): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01361.hp2 HG02976.hp1 others(3): Show |
a0001a0015 | a0001c0001a0001c0007a0015c0022 | a0001c0001t0001a0001c0007t0001a0015c0022t0001 | a0001c0001t0001g0095a0001c0001t0001g0151a0001c0001t0001g0152others(3): Show | 6 | 280 | 0.0214 | 907 | c.641 others(922): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537346 | G | GCCCCGTC others(900): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 256 | 0.0039 | 907 | c.241 others(926): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
NXN_chr17_794310_984776 | 952174 | T | TGGGGGGG others(900): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0234 | 1 | 242 | 0.0041 | 907 | c.360 others(926): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(900): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 350 | 0.0029 | 907 | c.734 others(924): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(900): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 350 | 0.0029 | 907 | c.734 others(924): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(900): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 308 | 0.0033 | 907 | c.371 others(924): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(900): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 250 | 0.0040 | 907 | c.328 others(926): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(900): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18951.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0151a0001c0001t0005g0142a0001c0001t0005g0150 | 3 | 312 | 0.0096 | 907 | c.306 others(926): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PROZ_chr13_113153648_113177386 | 113162008 | C | CTCCCCCC others(900): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 378 | 0.0053 | 907 | c.260 others(922): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(900): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0082 | 1 | 220 | 0.0046 | 907 | c.24+ others(924): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246072180 | T | TTAGTTCT others(900): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 150 | 0.0067 | 907 | c.532 others(928): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(900): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0116 | 1 | 322 | 0.0031 | 907 | c.597 others(924): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273206 | G | GACCACCA others(900): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 392 | 0.0026 | 907 | c.228 others(924): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828693 | G | GAGGGAGA others(900): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0054 | 1 | 94 | 0.0106 | 907 | c.79+ others(924): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507492 | T | TACGTATA others(900): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0267 | 1 | 388 | 0.0026 | 907 | c.-23 others(924): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(900): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 174 | 0.0058 | 907 | c.41- others(924): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(900): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0164 | 1 | 468 | 0.0021 | 907 | c.-6- others(922): 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(900): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0096 | 1 | 468 | 0.0021 | 907 | c.-6- others(922): 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(900): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169 | 1 | 468 | 0.0021 | 907 | c.-6- others(922): 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(900): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0170 | 1 | 468 | 0.0021 | 907 | c.-6- others(922): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(901): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0161 | 1 | 310 | 0.0032 | 908 | c.267 others(927): 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(901): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG03209.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0003c0009t0002 | a0001c0001t0001g0293a0003c0009t0002g0001 | 4 | 310 | 0.0129 | 908 | c.267 others(927): 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(901): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0040others(45): Show | 48 | 310 | 0.1548 | 908 | c.267 others(927): 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(901): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02965.hp1 |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0013a0001c0003t0002a0001c0008t0001 | a0001c0001t0013g0051a0001c0003t0002g0050a0001c0008t0001g0297 | 3 | 310 | 0.0097 | 908 | c.267 others(927): 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(901): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0291 | 1 | 310 | 0.0032 | 908 | c.267 others(927): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
AGRN_chr1_1015120_1061116 | 1030914 | C | CTGTGTGA others(901): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0042 | a0001c0042t0001 | a0001c0042t0001g0016 | 1 | 210 | 0.0048 | 908 | c.464 others(925): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(901): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0005 | a0005c0087 | a0005c0087t0002 | a0005c0087t0002g0276 | 1 | 363 | 0.0028 | 908 | c.-48 others(925): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(901): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 363 | 0.0028 | 908 | c.-48 others(925): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(901): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0260 | 1 | 363 | 0.0028 | 908 | c.-48 others(925): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(901): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0052 | a0001c0052t0052 | a0001c0052t0052g0336 | 1 | 363 | 0.0028 | 908 | c.-48 others(925): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1833049 | G | GAGGGAGA others(901): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03486.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0051a0001c0005t0018 | a0001c0003t0051g0118a0001c0005t0018g0337 | 2 | 363 | 0.0055 | 908 | c.-48 others(925): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C22orf42_chr22_32144006_32164303 | 32145546 | A | ATATAATG others(901): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0048 | 1 | 398 | 0.0025 | 908 | c.*39 others(919): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3459 | chr22 | TogoVar |