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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FGFR4_chr5_177081915_177103144 | 177096932 | T | TTCCTCCT others(389): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02818.hp2 HG03041.hp2 others(3): Show |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0011 | 6 | 364 | 0.0165 | 396 | c.215 others(413): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FLACC1_chr2_201283271_201362345 | 201284695 | G | GGGGAGAG others(389): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0162 | 1 | 224 | 0.0045 | 396 | c.*39 others(407): Show |
FLACC1 | ENSG00000155749.13 | transcript | ENST00000392257.8 | protein_coding | 3575 | chr2 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999091 | G | GTATATAA others(389): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0019 | a0019c0042 | a0019c0042t0001 | a0019c0042t0001g0260 | 1 | 28 | 0.0357 | 396 | c.*49 others(407): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999091 | G | GTATATAC others(389): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0019 | a0003c0019t0001 | a0003c0019t0001g0189 | 1 | 28 | 0.0357 | 396 | c.*49 others(407): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240208028 | G | GGGCATAC others(389): Show |
disruptive_inframe_insertion | MODERATE | HG03225.hp1 | a0059 | a0059c0124 | a0059c0124t0001 | a0059c0124t0001g0161 | 1 | 130 | 0.0077 | 396 | c.326 others(405): Show |
p.Pro others(411): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3488/6429 | 3261/5169 | 1087/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
FOXP1_chr3_70949708_71588728 | 71435378 | G | GGGAGGGA others(389): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0004 | 1 | 67 | 0.0149 | 396 | c.-16 others(417): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(389): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0036 | 1 | 11 | 0.0909 | 396 | c.-16 others(417): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805556 | A | ACCCTCCC others(389): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 175 | 0.0057 | 396 | c.*13 others(407): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1270 | chr2 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113826382 | C | CCCGGCCT others(389): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0008 | 1 | 142 | 0.0070 | 396 | c.147 others(413): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113826663 | C | CGCAGGCA others(389): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 105 | 0.0095 | 396 | c.147 others(413): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GET4_chr7_871554_901436 | 890180 | T | TCTGGGAG others(389): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0054 | 1 | 359 | 0.0028 | 396 | c.467 others(411): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890216 | G | GGGTCTGG others(389): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 347 | 0.0029 | 396 | c.467 others(411): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890216 | G | GGGTCTGG others(389): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0114 | 1 | 347 | 0.0029 | 396 | c.467 others(411): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLIS1_chr1_53501239_53744164 | 53525463 | A | AGGCTGGG others(389): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 129 | 0.0078 | 396 | c.148 others(413): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 5/10 | chr1 | TogoVar | |||||||
GLT6D1_chr9_135618648_135644540 | 135620157 | T | TCTACTCC others(389): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0114 | 1 | 415 | 0.0024 | 396 | c.*39 others(407): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3490 | chr9 | TogoVar | |||||||
GNG4_chr1_235542685_235654784 | 235587634 | A | ATGTGTGT others(389): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02615.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0026a0001c0001t0039others(2): Show | a0001c0001t0011g0249 a0001c0001t0011g0257 a0001c0001t0011g0258 others(5): Show |
8 | 71 | 0.1127 | 396 | c.-10 others(413): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
GNG4_chr1_235542685_235654784 | 235587634 | A | ATGTGTGT others(389): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0317 | 1 | 64 | 0.0156 | 396 | c.-10 others(413): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
GNG4_chr1_235542685_235654784 | 235587634 | A | ATGTGTGT others(389): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02486.hp1 HG02723.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0013a0001c0001t0020others(7): Show | a0001c0001t0006g0101 a0001c0001t0006g0238 a0001c0001t0013g0015 others(11): Show |
14 | 77 | 0.1818 | 396 | c.-10 others(413): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
GPBP1_chr5_57169059_57269673 | 57249833 | T | TCCCCTTC others(389): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 223 | 0.0045 | 396 | c.972 others(411): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57249833 | T | TCCCCTTC others(389): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01975.hp1 HG02165.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0244 others(10): Show |
13 | 235 | 0.0553 | 396 | c.972 others(411): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57249833 | T | TCCCCTTC others(389): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184 | 1 | 223 | 0.0045 | 396 | c.972 others(411): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(389): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 102 | 0.0098 | 396 | c.972 others(411): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(389): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 102 | 0.0098 | 396 | c.972 others(411): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(389): Show |
intron_variant | MODIFIER | HG02074.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0080 |
2 | 103 | 0.0194 | 396 | c.972 others(411): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(389): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 102 | 0.0098 | 396 | c.972 others(411): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(389): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0157 |
2 | 103 | 0.0194 | 396 | c.972 others(411): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATA others(389): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0229 | 1 | 303 | 0.0033 | 396 | c.167 others(413): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRM4_chr6_34013643_34151087 | 34035559 | T | TGAAAGAA others(389): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0238 | 1 | 149 | 0.0067 | 396 | c.244 others(413): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
GTPBP4_chr10_983434_1024932 | 1015494 | T | TGGACCTG others(389): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0059 a0001c0002t0002g0060 |
2 | 234 | 0.0085 | 396 | c.160 others(413): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399217 | C | CCACCACC others(389): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0193 |
2 | 291 | 0.0069 | 396 | c.-25 others(413): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IDI2_chr10_1013910_1030859 | 1015494 | T | TGGACCTG others(389): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 a0001c0002t0002g0062 |
2 | 286 | 0.0070 | 396 | c.*40 others(407): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3415 | chr10 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322340 | T | TATGCAAT others(389): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0230 | 1 | 303 | 0.0033 | 396 | c.-27 others(407): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2629 | chr21 | TogoVar | |||||||
IL17REL_chr22_49986811_50017765 | 50009894 | T | TGGCGGCA others(389): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0175 a0001c0001t0004g0108 a0001c0001t0004g0174 |
3 | 105 | 0.0286 | 396 | c.103 others(413): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1344657 | T | TAGCTACT others(389): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 84 | 0.0119 | 396 | c.65- others(409): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1990602 | G | GTGCTGCC others(389): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0322 a0001c0001t0023g0323 |
2 | 387 | 0.0052 | 396 | c.-90 others(415): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1991038 | C | CGGGCCTT others(389): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0119 | 1 | 82 | 0.0122 | 396 | c.-90 others(415): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(389): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0263 | 1 | 247 | 0.0040 | 396 | c.283 others(415): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442731 | C | CCATCACC others(389): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0076 | 1 | 325 | 0.0031 | 396 | c.691 others(411): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442773 | T | TTACCACC others(389): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 196 | 0.0051 | 396 | c.691 others(411): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442773 | T | TTACCACC others(389): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0001 | a0002c0001t0024 | a0002c0001t0024g0098 | 1 | 196 | 0.0051 | 396 | c.691 others(411): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126473080 | T | TCTACCTA others(389): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0003 | 1 | 4 | 0.2500 | 396 | c.591 others(411): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 5/16 | chr11 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(389): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 77 | 0.0130 | 396 | c.-27 others(407): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(389): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG02040.hp2 HG03834.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0002 a0002c0002t0001g0055 |
3 | 79 | 0.0380 | 396 | c.-27 others(407): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(389): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0013 | a0001c0013t0009 | a0001c0013t0009g0245 | 1 | 166 | 0.0060 | 396 | c.*66 others(407): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124610422 | A | AGGGTGAG others(389): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 98 | 0.0102 | 396 | c.717 others(413): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124610422 | A | AGGGTGAG others(389): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 others(79): Show |
82 | 179 | 0.4581 | 396 | c.717 others(413): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LIMK2_chr22_31207298_31285080 | 31226471 | G | GGAATTAC others(389): Show |
intron_variant | MODIFIER | HG03516.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0027 a0001c0004t0001g0318 |
2 | 55 | 0.0364 | 396 | c.116 others(411): Show |
LIMK2 | ENSG00000182541.18 | transcript | ENST00000331728.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LIMK2_chr22_31207298_31285080 | 31226471 | G | GGAATTAC others(389): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02293.hp1 NA18943.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 others(2): Show |
5 | 58 | 0.0862 | 396 | c.116 others(411): Show |
LIMK2 | ENSG00000182541.18 | transcript | ENST00000331728.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LIMK2_chr22_31207298_31285080 | 31226471 | G | GGAATTAC others(389): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01496.hp2 HG02647.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0022 | a0002c0002t0001g0212 a0002c0002t0001g0218 a0002c0002t0001g0219 others(1): Show |
4 | 57 | 0.0702 | 396 | c.116 others(411): Show |
LIMK2 | ENSG00000182541.18 | transcript | ENST00000331728.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LOC102723971_chr9_135609183_135624893 | 135620157 | T | TCTACTCC others(389): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0050 | 1 | 429 | 0.0023 | 396 | c.*12 others(407): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 265 | chr9 | TogoVar |