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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DOCK8_chr9_209865_470255 | 400472 | C | CATCCACC others(40): Show |
intron_variant | MODIFIER | NA18997.hp2 NA19005.hp2 |
a0001a0003 | a0001c0003a0003c0001 | a0001c0003t0001a0003c0001t0001 | a0001c0003t0001g0103a0003c0001t0001g0152 | 2 | 256 | 0.0078 | 47 | c.323 others(66): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400472 | C | CCTCCACC others(40): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0040 | a0004c0040t0001 | a0004c0040t0001g0216 | 1 | 256 | 0.0039 | 47 | c.323 others(66): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400472 | C | CCTCCACC others(40): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0115 | a0002c0115t0001 | a0002c0115t0001g0037 | 1 | 256 | 0.0039 | 47 | c.323 others(66): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK9_chr13_98788429_98983064 | 98965924 | T | TGGGGGGG others(40): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0286 | 1 | 348 | 0.0029 | 47 | c.127 others(66): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 1/52 | chr13 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69617724 | A | AAAGAAAG others(40): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 170 | 0.0059 | 47 | c.289 others(66): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89634658 | C | CCCTTCCT others(40): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0083 | 1 | 250 | 0.0040 | 47 | c.105 others(64): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89634737 | C | CCCTTCCT others(40): Show |
intron_variant | MODIFIER | NA18983.hp1 NA19009.hp1 NA19079.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0013others(3): Show | 6 | 250 | 0.0240 | 47 | c.105 others(64): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89634845 | T | TCCTTTCC others(40): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0155 | 1 | 250 | 0.0040 | 47 | c.105 others(64): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89634850 | T | TCCCTTCC others(40): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 250 | 0.0040 | 47 | c.105 others(64): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89635025 | C | CCCTTCCT others(40): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0062 | 2 | 250 | 0.0080 | 47 | c.105 others(62): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPH6_chr15_35365880_35551165 | 35496567 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 228 | 0.0044 | 47 | c.312 others(66): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137551734 | A | AGCCCCGC others(40): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 340 | 0.0029 | 47 | c.*35 others(58): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 2709 | chr9 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154794811 | T | TGGGCCCC others(40): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01071.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(11): Show | a0001c0001t0005a0001c0001t0016a0001c0006t0003others(13): Show | a0001c0001t0005g0032a0001c0001t0016g0005a0001c0006t0003g0013others(13): Show | 16 | 38 | 0.4211 | 47 | c.126 others(64): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPY19L2_chr12_63553913_63673493 | 63592006 | G | GAGGGGAG others(40): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0004 | a0004c0008 | a0004c0008t0014 | a0004c0008t0014g0298 | 1 | 362 | 0.0028 | 47 | c.158 others(66): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 16/21 | chr12 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31421897 | A | AAAAAAAT others(40): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0222 | 1 | 322 | 0.0031 | 47 | c.342 others(64): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31421898 | T | TATATATA others(40): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182 | 1 | 322 | 0.0031 | 47 | c.342 others(64): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | ||||||
DUSP8_chr11_1549051_1577271 | 1550931 | T | TCACACCC others(40): Show |
downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 367 | 0.0027 | 47 | c.*55 others(58): Show |
DUSP8 | ENSG00000184545.11 | transcript | ENST00000397374.8 | protein_coding | 3119 | chr11 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57172002 | C | CGAGGGGG others(40): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG02965.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0068a0001c0003t0002g0118 | 2 | 446 | 0.0045 | 47 | c.-45 others(58): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4518 | chr19 | TogoVar | ||||||
DVL1_chr1_1330278_1354418 | 1351320 | C | CCGGGCAG others(40): Show |
upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 344 | 0.0029 | 47 | c.-22 others(58): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 1903 | chr1 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(40): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 396 | 0.0025 | 47 | c.*75 others(56): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26035111 | A | AAAAGGGT others(40): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0005 | 1 | 220 | 0.0046 | 47 | c.483 others(64): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 5/15 | chr8 | TogoVar | ||||||
ECHS1_chr10_133357485_133378354 | 133366779 | G | GGGTTTCT others(40): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01261.hp1 HG02895.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0008a0003c0004t0002g0161 | 6 | 354 | 0.0170 | 47 | c.619 others(62): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 5/7 | chr10 | TogoVar | ||||||
ECHS1_chr10_133357485_133378354 | 133366822 | C | CCTGTGGT others(40): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03540.hp1 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0160a0003c0004t0002g0172 | 2 | 354 | 0.0057 | 47 | c.619 others(60): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 5/7 | chr10 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128150907 | A | ATTCTATA others(40): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 272 | 0.0037 | 47 | c.-26 others(58): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 2573 | chr3 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55167328 | G | GTGGTGAG others(40): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0028a0001c0013t0024 | a0001c0001t0028g0138a0001c0013t0024g0151 | 2 | 250 | 0.0080 | 47 | c.188 others(66): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137809872 | C | CGTAGGTG others(40): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(31): Show |
a0001a0003 | a0001c0003a0001c0006a0001c0007others(4): Show | a0001c0003t0001a0001c0006t0001a0001c0007t0001others(4): Show | a0001c0003t0001g0001a0001c0003t0001g0057a0001c0003t0001g0058others(31): Show | 34 | 170 | 0.2000 | 47 | c.271 others(66): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137809940 | T | TGGTTCCG others(40): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02809.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0003a0001c0007a0001c0008 | a0001c0003t0001a0001c0007t0001a0001c0008t0001 | a0001c0003t0001g0060a0001c0007t0001g0052a0001c0008t0001g0150others(1): Show | 4 | 170 | 0.0235 | 47 | c.271 others(66): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137810194 | T | TGTGGACC others(40): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(69): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0030a0001c0001t0001g0038a0001c0001t0001g0039others(69): Show | 72 | 170 | 0.4235 | 47 | c.271 others(66): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137810249 | G | GTCGGTGA others(40): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0165 | 2 | 170 | 0.0118 | 47 | c.271 others(66): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EIF2AK1_chr7_6017247_6064175 | 6056613 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 418 | 0.0024 | 47 | c.119 others(64): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
EIF4ENIF1_chr22_31434367_31494842 | 31464699 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 366 | 0.0027 | 47 | c.299 others(62): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 4/18 | chr22 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21179832 | T | TAATATAT others(40): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01361.hp2 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022a0001c0001t0002g0080a0001c0001t0002g0086 | 3 | 312 | 0.0096 | 47 | c.-35 others(58): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2936 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21179920 | T | TATATATT others(40): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0306 | 1 | 312 | 0.0032 | 47 | c.-36 others(58): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3024 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21179957 | T | TATATATT others(40): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0276 | 1 | 312 | 0.0032 | 47 | c.-36 others(58): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3061 | chr1 | TogoVar | ||||||
ELAC2_chr17_12986612_13023027 | 12990155 | A | AGAGCACC others(40): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0258 | 1 | 400 | 0.0025 | 47 | c.*26 others(58): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 1456 | chr17 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139114561 | T | TCCAGTCT others(40): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275a0001c0001t0001g0287 | 2 | 342 | 0.0059 | 47 | c.238 others(66): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139172887 | G | GGGGGGGG others(40): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 342 | 0.0029 | 47 | c.-25 others(66): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGCGGGT others(40): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 312 | 0.0032 | 47 | c.-47 others(58): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | ||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGGCGG others(40): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 312 | 0.0032 | 47 | c.-47 others(58): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | ||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGGGGG others(40): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG02896.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0006 | a0001c0001t0005g0021a0001c0002t0006g0022 | 2 | 312 | 0.0064 | 47 | c.-47 others(58): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53306208 | A | AAGGGGAG others(40): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0302 | 1 | 320 | 0.0031 | 47 | c.-8- others(64): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53306210 | G | GGGGAGAG others(40): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 320 | 0.0031 | 47 | c.-8- others(64): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELP1_chr9_108862517_108939124 | 108900843 | A | ACACACAT others(40): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0107 | 1 | 416 | 0.0024 | 47 | c.201 others(64): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 18/36 | chr9 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796163 | G | GTATATAT others(40): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG02027.hp1 HG02523.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0032a0001c0001t0010g0033a0001c0001t0010g0034others(1): Show | 4 | 332 | 0.0121 | 47 | c.-36 others(58): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3211 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796882 | G | GTATATAT others(40): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0329 | 1 | 332 | 0.0030 | 47 | c.-43 others(58): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3930 | chr14 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54961184 | G | GTTGTTTT others(40): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0011 | a0001c0011t0031 | a0001c0011t0031g0104 | 1 | 264 | 0.0038 | 47 | c.496 others(64): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EMP1_chr12_13191726_13224941 | 13212135 | G | GCAAAGAG others(40): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0209 | 1 | 444 | 0.0023 | 47 | c.78+ others(60): Show |
EMP1 | ENSG00000134531.10 | transcript | ENST00000256951.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ENDOV_chr17_80410167_80443086 | 80436176 | T | TTCCTGAC others(40): Show |
3_prime_UTR_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0152 | 1 | 420 | 0.0024 | 47 | c.*39 others(54): Show |
ENDOV | ENSG00000173818.17 | transcript | ENST00000518137.6 | protein_coding | 10/10 | 40 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
ENOSF1_chr18_665318_717630 | 666945 | T | TGATGGTG others(40): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0185 | 1 | 418 | 0.0024 | 47 | c.*73 others(58): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3372 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667617 | G | GGTGATGG others(40): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0102 | 1 | 418 | 0.0024 | 47 | c.*66 others(58): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2700 | chr18 | TogoVar |