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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2645): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 172 | 0.0058 | 2652 | c.*22 others(2663): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2645): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 172 | 0.0058 | 2652 | c.*22 others(2663): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(2645): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0239 | 1 | 73 | 0.0137 | 2652 | c.162 others(2671): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43233674 | C | CAGTGTGC others(2645): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0163 | 1 | 181 | 0.0055 | 2652 | c.171 others(2671): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 15/16 | chr13 | TogoVar | |||||||
GNAL_chr18_11684264_11890685 | 11728844 | A | AGCAAAAG others(2645): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0203 | 1 | 246 | 0.0041 | 2652 | c.377 others(2671): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241116146 | T | TCAAGCAT others(2645): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0021 | a0021c0043 | a0021c0043t0001 | a0021c0043t0001g0120 | 1 | 373 | 0.0027 | 2652 | c.307 others(2669): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2645): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 207 | 0.0048 | 2652 | c.715 others(2669): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2645): Show |
intron_variant | MODIFIER | HG04199.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0036 a0001c0003t0002g0006 |
2 | 24 | 0.0833 | 2652 | c.284 others(2671): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2645): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0100 | 1 | 213 | 0.0047 | 2652 | c.482 others(2667): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
SRARP_chr1_15999236_16013807 | 16002841 | T | TATAAAAT others(2645): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0037 | a0001c0001t0005g0002 a0001c0001t0037g0002 |
2 | 388 | 0.0052 | 2652 | c.-14 others(2663): Show |
SRARP | ENSG00000183888.4 | transcript | ENST00000329454.2 | protein_coding | 1394 | chr1 | TogoVar | |||||||
SRARP_chr1_15999236_16013807 | 16002841 | T | TATAAAAT others(2645): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 387 | 0.0026 | 2652 | c.-14 others(2663): Show |
SRARP | ENSG00000183888.4 | transcript | ENST00000329454.2 | protein_coding | 1394 | chr1 | TogoVar | |||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2645): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0044 a0001c0001t0013g0045 |
2 | 281 | 0.0071 | 2652 | c.-18 others(2673): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2645): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0001 | a0002c0001t0072 | a0002c0001t0072g0138 | 1 | 70 | 0.0143 | 2652 | c.742 others(2669): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2645): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0010 | a0010c0014 | a0010c0014t0061 | a0010c0014t0061g0195 | 1 | 70 | 0.0143 | 2652 | c.742 others(2669): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2645): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0024 | a0001c0002t0007g0217 a0001c0002t0024g0085 |
2 | 71 | 0.0282 | 2652 | c.742 others(2669): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCTTTT others(2645): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0016a0001c0002t0059 | a0001c0002t0007g0030 a0001c0002t0007g0170 a0001c0002t0016g0084 others(1): Show |
4 | 73 | 0.0548 | 2652 | c.742 others(2669): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(2646): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0230 | 1 | 73 | 0.0137 | 2653 | c.162 others(2672): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716082 | G | GTGGTGGG others(2646): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0073 | 1 | 145 | 0.0069 | 2653 | c.86- others(2666): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716505 | G | GTTGGTGT others(2646): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 156 | 0.0064 | 2653 | c.86- others(2666): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2646): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03486.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0005 | a0001c0001t0002g0070 a0001c0002t0005g0075 a0001c0002t0005g0076 |
3 | 215 | 0.0140 | 2653 | c.482 others(2668): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2646): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03139.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0024a0001c0002t0043others(1): Show | a0001c0002t0004g0200 a0001c0002t0024g0086 a0001c0002t0043g0191 others(1): Show |
4 | 73 | 0.0548 | 2653 | c.742 others(2670): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCTTTT others(2646): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0016a0001c0002t0038 | a0001c0002t0007g0160 a0001c0002t0016g0031 a0001c0002t0038g0028 |
3 | 72 | 0.0417 | 2653 | c.742 others(2670): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2647): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0337 | 1 | 264 | 0.0038 | 2654 | c.16+ others(2669): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2647): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0172 | 1 | 371 | 0.0027 | 2654 | c.96+ others(2669): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(2647): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 229 | 0.0044 | 2654 | c.411 others(2671): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
DISP1_chr1_222810039_223010995 | 222865008 | T | TGAGATAG others(2647): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 a0001c0001t0001g0203 |
2 | 345 | 0.0058 | 2654 | c.-15 others(2675): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 109966194 | T | TAGAAAAT others(2647): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 220 | 0.0045 | 2654 | c.496 others(2673): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCTTTT others(2647): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0181 | 1 | 70 | 0.0143 | 2654 | c.742 others(2671): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCTTTT others(2647): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0182 | 1 | 70 | 0.0143 | 2654 | c.742 others(2671): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2648): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0268 a0001c0001t0007g0269 |
2 | 265 | 0.0075 | 2655 | c.16+ others(2670): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2648): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 23 | 0.0435 | 2655 | c.137 others(2672): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2648): Show |
intron_variant | MODIFIER | HG00609.hp1 HG04204.hp1 |
a0001 | a0001c0002a0001c0015 | a0001c0002t0003a0001c0015t0003 | a0001c0002t0003g0151 a0001c0015t0003g0174 |
2 | 24 | 0.0833 | 2655 | c.137 others(2672): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2648): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 127 | 0.0079 | 2655 | c.-95 others(2674): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2648): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 127 | 0.0079 | 2655 | c.-95 others(2674): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2648): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0116 | 1 | 127 | 0.0079 | 2655 | c.-95 others(2674): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2648): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 2 | 0.5000 | 2655 | c.44- others(2668): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240980561 | G | GCTCTGGG others(2648): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0018 | a0018c0016 | a0018c0016t0001 | a0018c0016t0001g0187 | 1 | 277 | 0.0036 | 2655 | c.440 others(2674): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251236 | C | CCCCCCAC others(2648): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0109 | 1 | 100 | 0.0100 | 2655 | c.207 others(2674): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222865008 | T | TGAGATAG others(2648): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 344 | 0.0029 | 2655 | c.-15 others(2676): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CGGAGGGG others(2648): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0190 | 1 | 242 | 0.0041 | 2655 | c.157 others(2670): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132243014 | C | CCCCTTCC others(2648): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 68 | 0.0147 | 2655 | c.107 others(2674): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507284 | G | GGGTAGGG others(2648): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 202 | 0.0050 | 2655 | c.624 others(2672): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRFIP1_chr2_237622587_237786643 | 237655103 | T | TATGTGAG others(2648): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0029 | 1 | 254 | 0.0039 | 2655 | c.96+ others(2672): Show |
LRRFIP1 | ENSG00000124831.20 | transcript | ENST00000308482.14 | protein_coding | 1/23 | chr2 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGGAG others(2648): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0054 | 1 | 6 | 0.1667 | 2655 | c.209 others(2670): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
MUC17_chr7_101015081_101063859 | 101036473 | C | CTGAAGAA others(2648): Show |
disruptive_inframe_insertion | MODERATE | HG01361.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0025 | 1 | 328 | 0.0030 | 2655 | c.506 others(2664): Show |
p.Glu others(2670): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5118/14352 | 5063/13482 | 1688/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC17_chr7_101015081_101063859 | 101036473 | C | CTGAAGAA others(2648): Show |
disruptive_inframe_insertion | MODERATE | HG00544.hp2 HG01109.hp2 HG01891.hp1 others(16): Show |
a0006a0009a0028others(1): Show | a0006c0006a0009c0010a0009c0074others(2): Show | a0006c0006t0002a0009c0010t0002a0009c0074t0005others(2): Show | a0006c0006t0002g0025 a0006c0006t0002g0062 a0006c0006t0002g0073 others(16): Show |
19 | 346 | 0.0549 | 2655 | c.506 others(2664): Show |
p.Glu others(2670): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5118/14352 | 5063/13482 | 1688/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC17_chr7_101015081_101063859 | 101036473 | C | CTGAAGAA others(2648): Show |
disruptive_inframe_insertion | MODERATE | HG02630.hp2 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0063 | 1 | 328 | 0.0030 | 2655 | c.506 others(2664): Show |
p.Glu others(2670): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5118/14352 | 5063/13482 | 1688/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC17_chr7_101015081_101063859 | 101036473 | C | CTGAAGGA others(2648): Show |
disruptive_inframe_insertion | MODERATE | NA19030.hp1 | a0055 | a0055c0070 | a0055c0070t0004 | a0055c0070t0004g0110 | 1 | 328 | 0.0030 | 2655 | c.508 others(2664): Show |
p.Ser others(2670): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5140/14352 | 5085/13482 | 1695/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC17_chr7_101015081_101063859 | 101036473 | C | CTGAAGGA others(2648): Show |
disruptive_inframe_insertion | MODERATE | HG02818.hp1 | a0019 | a0019c0028 | a0019c0028t0004 | a0019c0028t0004g0150 | 1 | 328 | 0.0030 | 2655 | c.508 others(2664): Show |
p.Ser others(2670): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5140/14352 | 5085/13482 | 1695/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC17_chr7_101015081_101063859 | 101036473 | C | CTGAAGGA others(2648): Show |
disruptive_inframe_insertion | MODERATE | HG02572.hp1 | a0038 | a0038c0071 | a0038c0071t0001 | a0038c0071t0001g0143 | 1 | 328 | 0.0030 | 2655 | c.508 others(2664): Show |
p.Ser others(2670): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5140/14352 | 5085/13482 | 1695/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |