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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFNA2_chr19_1280873_1306431 | 1282372 | G | GGGGGAAG others(668): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 292 | 0.0034 | 675 | c.-37 others(686): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3500 | chr19 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99928107 | G | GTGGTGGT others(668): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007 | 1 | 152 | 0.0066 | 675 | c.190 others(694): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(668): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02572.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0039 a0002c0001t0001g0085 |
2 | 75 | 0.0267 | 675 | c.282 others(694): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(668): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0003 | a0003c0051 | a0003c0051t0001 | a0003c0051t0001g0173 | 1 | 141 | 0.0071 | 675 | c.282 others(694): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(668): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 11 | 0.0909 | 675 | c.*35 others(686): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | |||||||
FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(668): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 11 | 0.0909 | 675 | c.*35 others(686): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | |||||||
FAM174C_chr19_1270530_1284228 | 1282354 | A | AGGGGAGG others(668): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 252 | 0.0040 | 675 | c.*35 others(686): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3127 | chr19 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551540 | G | GGAGGAGG others(668): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0039 | 1 | 2 | 0.5000 | 675 | c.-17 others(694): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999091 | G | GTATGTAT others(668): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 NA19074.hp2 |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0002a0003c0010t0001 | a0001c0001t0002g0073 a0003c0010t0001g0268 |
2 | 29 | 0.0690 | 675 | c.*49 others(686): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | |||||||
FUT7_chr9_137025174_137037088 | 137034336 | G | GGGGGGTT others(668): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 HG03688.hp1 NA19082.hp1 |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0001a0010c0012t0001 | a0001c0001t0001g0001 a0010c0012t0001g0025 |
3 | 36 | 0.0833 | 675 | c.-23 others(686): Show |
FUT7 | ENSG00000180549.8 | transcript | ENST00000314412.7 | protein_coding | 2249 | chr9 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241358 | G | GGGGCCCT others(668): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0176 | 1 | 170 | 0.0059 | 675 | c.107 others(694): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132242468 | C | CCACACCC others(668): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 169 | 0.0059 | 675 | c.107 others(694): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252941 | C | CCATCACC others(668): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 347 | 0.0029 | 675 | c.666 others(692): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(668): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 58 | 0.0172 | 675 | c.*35 others(686): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113817328 | C | CGGGACAC others(668): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0023 | 1 | 104 | 0.0096 | 675 | c.*35 others(686): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3220 | chr13 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(668): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 8 | 0.1250 | 675 | c.*31 others(686): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(668): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 8 | 0.1250 | 675 | c.*31 others(686): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(668): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 8 | 0.1250 | 675 | c.*31 others(686): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(668): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 675 | c.*31 others(686): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(668): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 8 | 0.1250 | 675 | c.*31 others(686): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(668): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 675 | c.*31 others(686): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(668): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 675 | c.*31 others(686): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(668): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 675 | c.*31 others(686): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(668): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 675 | c.*31 others(686): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(668): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 675 | c.*31 others(686): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(668): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 675 | c.*31 others(686): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557401 | T | TATATATA others(668): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0297 | 1 | 309 | 0.0032 | 675 | c.94- others(688): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557401 | T | TATATATA others(668): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02280.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0004 a0001c0002t0004g0296 a0001c0002t0004g0299 others(3): Show |
9 | 317 | 0.0284 | 675 | c.94- others(688): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557401 | T | TATATATA others(668): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0306 | 1 | 309 | 0.0032 | 675 | c.94- others(688): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557401 | T | TATATATA others(668): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0307 | 1 | 309 | 0.0032 | 675 | c.94- others(688): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557401 | T | TATATATA others(668): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0303 | 1 | 309 | 0.0032 | 675 | c.94- others(688): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399538 | C | CCACCACC others(668): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0285 others(4): Show |
7 | 291 | 0.0241 | 675 | c.-25 others(692): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HS3ST6_chr16_1906475_1923415 | 1920388 | A | AGTCCCCA others(668): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 223 | 0.0045 | 675 | c.-20 others(686): Show |
HS3ST6 | ENSG00000162040.7 | transcript | ENST00000454677.3 | protein_coding | 1974 | chr16 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18926013 | A | ATGGTTGG others(668): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0053 | 1 | 355 | 0.0028 | 675 | c.666 others(692): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IQSEC1_chr3_12892043_13078429 | 12896683 | T | TCTGCCAG others(668): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0005 | a0005c0005 | a0005c0005t0035 | a0005c0005t0035g0058 | 1 | 246 | 0.0041 | 675 | c.*42 others(686): Show |
IQSEC1 | ENSG00000144711.17 | transcript | ENST00000613206.2 | protein_coding | 359 | chr3 | TogoVar | |||||||
ISOC2_chr19_55447985_55466642 | 55449123 | C | CCACACAC others(668): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 376 | 0.0027 | 675 | c.*41 others(686): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 3861 | chr19 | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(668): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 NA19012.hp1 NA19078.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0055 a0001c0001t0001g0084 a0003c0005t0001g0253 |
3 | 13 | 0.2308 | 675 | c.*52 others(686): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(668): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG04115.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0093 a0001c0001t0001g0255 |
3 | 13 | 0.2308 | 675 | c.*52 others(686): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(668): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 77 | 0.0130 | 675 | c.-27 others(686): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205150 | C | CCACACAC others(668): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0094 | 1 | 10 | 0.1000 | 675 | c.212 others(694): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(668): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0189 | 1 | 194 | 0.0052 | 675 | c.*56 others(686): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(668): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 NA18972.hp1 NA18981.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008 | a0002c0002t0002g0190 a0002c0002t0002g0202 a0002c0002t0008g0048 others(1): Show |
4 | 197 | 0.0203 | 675 | c.*56 others(686): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(668): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01496.hp1 NA18961.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008 | a0002c0002t0002g0007 a0002c0002t0002g0077 a0002c0002t0002g0255 others(2): Show |
5 | 198 | 0.0253 | 675 | c.*56 others(686): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186612 | G | GGAGGAAC others(668): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 310 | 0.0032 | 675 | c.*25 others(686): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2377 | chr16 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(668): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0251 | 1 | 8 | 0.1250 | 675 | c.250 others(690): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776441 | G | GCACCCAT others(668): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0160 | 1 | 91 | 0.0110 | 675 | c.129 others(696): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195782886 | A | AGGAAGAG others(668): Show |
disruptive_inframe_insertion | MODERATE | HG01192.hp1 HG02004.hp2 HG02027.hp1 others(8): Show |
a0005a0025a0053others(3): Show | a0005c0014a0005c0016a0005c0079others(6): Show | a0005c0014t0001a0005c0016t0001a0005c0079t0001others(6): Show | a0005c0014t0001g0081 a0005c0014t0001g0097 a0005c0016t0001g0045 others(8): Show |
11 | 145 | 0.0759 | 675 | c.869 others(684): Show |
p.Pro others(690): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8805/16756 | 8693/16239 | 2898/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782886 | A | AGGAAGAG others(668): Show |
disruptive_inframe_insertion | MODERATE | HG03491.hp2 | a0005 | a0005c0060 | a0005c0060t0002 | a0005c0060t0002g0075 | 1 | 135 | 0.0074 | 675 | c.869 others(684): Show |
p.Pro others(690): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8805/16756 | 8693/16239 | 2898/5412 | chr3 | TogoVar | |||
NKAIN2_chr6_123798865_124830640 | 124687566 | T | TATATTCC others(668): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02895.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0002t0001others(1): Show | a0001c0001t0001g0040 a0001c0001t0016g0010 a0001c0002t0001g0008 others(1): Show |
4 | 38 | 0.1053 | 675 | c.474 others(694): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397709 | T | TGAGGGAG others(668): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 299 | 0.0033 | 675 | c.91+ others(688): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |