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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC17_chr7_101015081_101063859 | 101036473 | C | CTGAAGGA others(2648): Show |
disruptive_inframe_insertion | MODERATE | HG01884.hp1 HG01952.hp1 HG02056.hp1 others(7): Show |
a0008a0040 | a0008c0008a0008c0027a0040c0073 | a0008c0008t0004a0008c0027t0001a0040c0073t0004 | a0008c0008t0004g0007 a0008c0008t0004g0065 a0008c0008t0004g0072 others(5): Show |
10 | 337 | 0.0297 | 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 | HG02451.hp1 HG02559.hp1 |
a0008a0019 | a0008c0008a0019c0028 | a0008c0008t0004a0019c0028t0004 | a0008c0008t0004g0007 a0019c0028t0004g0149 |
2 | 329 | 0.0061 | 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 | HG03041.hp1 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0064 | 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 | 101036497 | G | GTATGCCT others(2648): Show |
disruptive_inframe_insertion | MODERATE | HG02630.hp1 HG02717.hp2 HG02895.hp1 others(1): Show |
a0014a0045 | a0014c0018a0045c0069 | a0014c0018t0001a0014c0018t0002a0045c0069t0001 | a0014c0018t0001g0020 a0014c0018t0002g0047 a0014c0018t0002g0048 others(1): Show |
4 | 364 | 0.0110 | 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 | ||
PNPLA7_chr9_137454952_137555402 | 137502737 | C | CGCGGGGG others(2648): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0151 | 1 | 133 | 0.0075 | 2655 | c.147 others(2674): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432111 | T | TAGGGTGC others(2648): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295 | 1 | 288 | 0.0035 | 2655 | c.101 others(2672): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCTTTT others(2648): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0179 | 1 | 70 | 0.0143 | 2655 | c.742 others(2672): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2649): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0293 | 1 | 264 | 0.0038 | 2656 | c.16+ others(2671): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
FER1L5_chr2_96637764_96709883 | 96654898 | C | CAAAAAAA others(2649): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0188 | 1 | 163 | 0.0061 | 2656 | c.747 others(2671): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2649): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 398 | 0.0025 | 2656 | c.283 others(2673): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2649): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0005 | 1 | 280 | 0.0036 | 2656 | c.-18 others(2677): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2649): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 280 | 0.0036 | 2656 | c.-18 others(2677): 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(2649): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0237 | 1 | 70 | 0.0143 | 2656 | c.742 others(2673): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2649): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0075 | 1 | 404 | 0.0025 | 2656 | c.-16 others(2667): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2650): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0327 | 1 | 264 | 0.0038 | 2657 | c.16+ others(2672): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2650): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0325 | 1 | 264 | 0.0038 | 2657 | c.16+ others(2672): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2650): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 50 | 0.0200 | 2657 | c.147 others(2674): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(2650): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0315 | 1 | 261 | 0.0038 | 2657 | c.-22 others(2674): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2650): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0025 | 1 | 158 | 0.0063 | 2657 | c.126 others(2674): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2650): Show |
downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 172 | 0.0058 | 2657 | c.*22 others(2668): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2650): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 284 | 0.0035 | 2657 | c.-17 others(2668): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2650): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 71 | 0.0141 | 2657 | c.153 others(2676): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2650): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 398 | 0.0025 | 2657 | c.283 others(2674): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2650): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 a0001c0001t0003g0223 |
2 | 399 | 0.0050 | 2657 | c.283 others(2674): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649874 | T | TCCCCTGC others(2650): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 330 | 0.0030 | 2657 | c.112 others(2676): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
TIMM23_chr10_45967489_46008742 | 45994043 | T | TGAAATGA others(2650): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03688.hp2 NA18961.hp2 others(1): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0001 | a0001c0003t0001g0032 a0001c0003t0001g0227 a0001c0003t0001g0228 others(1): Show |
4 | 397 | 0.0101 | 2657 | c.514 others(2674): Show |
TIMM23 | ENSG00000265354.4 | transcript | ENST00000580018.4 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2651): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0339 | 1 | 264 | 0.0038 | 2658 | c.16+ others(2673): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2651): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0322 | 1 | 264 | 0.0038 | 2658 | c.16+ others(2673): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2651): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0333 a0001c0001t0003g0334 |
2 | 265 | 0.0075 | 2658 | c.16+ others(2673): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(2651): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0221 | 1 | 236 | 0.0042 | 2658 | c.268 others(2677): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2651): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 71 | 0.0141 | 2658 | c.153 others(2677): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2651): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 | 1 | 398 | 0.0025 | 2658 | c.283 others(2675): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2651): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0066 | 1 | 213 | 0.0047 | 2658 | c.482 others(2673): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2651): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0025 | 1 | 404 | 0.0025 | 2658 | c.-16 others(2669): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2652): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0336 | 1 | 264 | 0.0038 | 2659 | c.16+ others(2674): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2652): Show |
upstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 284 | 0.0035 | 2659 | c.-17 others(2670): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323698 | G | GTGTGTAG others(2652): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 146 | 0.0068 | 2659 | c.-49 others(2670): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4903 | chrX | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2652): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 71 | 0.0141 | 2659 | c.153 others(2678): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2652): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0168 | 1 | 71 | 0.0141 | 2659 | c.153 others(2678): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2652): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 71 | 0.0141 | 2659 | c.153 others(2678): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859767 | G | GAGTGGTG others(2652): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 278 | 0.0036 | 2659 | c.153 others(2678): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRRFIP1_chr2_237622587_237786643 | 237655103 | T | TATGTGAG others(2652): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG01074.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0034others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 others(13): Show |
16 | 269 | 0.0595 | 2659 | c.96+ others(2676): Show |
LRRFIP1 | ENSG00000124831.20 | transcript | ENST00000308482.14 | protein_coding | 1/23 | chr2 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGGC others(2652): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 34 | 0.0294 | 2659 | c.299 others(2674): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2652): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03195.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0020 | a0001c0002t0005g0188 a0001c0002t0020g0002 |
2 | 214 | 0.0093 | 2659 | c.482 others(2674): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2652): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0187 | 1 | 213 | 0.0047 | 2659 | c.482 others(2674): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377417 | C | CTCTGTGC others(2652): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0027 | 1 | 139 | 0.0072 | 2659 | c.-14 others(2670): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1392 | chr19 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(2652): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 264 | 0.0038 | 2659 | c.-34 others(2670): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 906316 | A | AAAGGGAA others(2653): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 12 | 0.0833 | 2660 | c.389 others(2677): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2653): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 | 1 | 254 | 0.0039 | 2660 | c.-30 others(2671): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811210 | C | CCCTTCCT others(2653): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 170 | 0.0059 | 2660 | c.773 others(2675): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |