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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(841): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 2 | 0.5000 | 848 | c.-51 others(859): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(841): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG02615.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0006 a0001c0001t0001g0159 a0001c0001t0013g0029 |
3 | 4 | 0.7500 | 848 | c.-51 others(859): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(841): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 2 | 0.5000 | 848 | c.-51 others(859): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | |||||||
FAM53A_chr4_1634887_1689313 | 1671447 | C | CCACAGCC others(841): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0073 | 1 | 77 | 0.0130 | 848 | c.-16 others(867): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(841): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0065 | 1 | 126 | 0.0079 | 848 | c.193 others(867): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GNAQ_chr9_77711097_78036811 | 77975783 | G | GCCTCAGC others(841): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0002 | 1 | 274 | 0.0036 | 848 | c.137 others(867): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48834455 | G | GGCCTGGA others(841): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 356 | 0.0028 | 848 | c.128 others(861): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925853 | T | TGGATTGG others(841): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 320 | 0.0031 | 848 | c.666 others(865): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(841): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0022 |
2 | 90 | 0.0222 | 848 | c.666 others(865): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(841): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 13 | 0.0769 | 848 | c.-79 others(857): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173149 | T | TCTCTCTC others(841): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01255.hp2 |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0038 a0002c0004t0004g0040 |
2 | 145 | 0.0138 | 848 | c.*11 others(869): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284529 | T | TAATAATA others(841): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 396 | 0.0025 | 848 | c.-30 others(859): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2908 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284532 | T | TAATAATA others(841): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 NA18995.hp2 NA18999.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 5 | 315 | 0.0159 | 848 | c.-30 others(859): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2911 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284532 | T | TAATAATA others(841): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 NA18961.hp2 NA19068.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 4 | 314 | 0.0127 | 848 | c.-30 others(859): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2911 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284532 | T | TAATAATA others(841): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01192.hp2 others(34): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0011a0001c0001t0020others(1): Show | a0001c0001t0003g0000 a0001c0001t0011g0000 a0001c0001t0020g0000 others(1): Show |
37 | 347 | 0.1066 | 848 | c.-30 others(859): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2911 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284532 | T | TAATAATA others(841): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0000 | 1 | 311 | 0.0032 | 848 | c.-30 others(859): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2911 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284532 | T | TAATAATA others(841): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 311 | 0.0032 | 848 | c.-30 others(859): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2911 | chr19 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(841): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0017 | 1 | 5 | 0.2000 | 848 | c.-41 others(863): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGCGG others(841): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 | 1 | 304 | 0.0033 | 848 | c.-22 others(859): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | |||||||
LHFPL3_chr7_104323603_104913561 | 104824253 | A | ATATTATA others(841): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0002 | a0001c0001t0007g0004 a0001c0003t0002g0065 |
2 | 68 | 0.0294 | 848 | c.683 others(867): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
LHFPL3_chr7_104323603_104913561 | 104824253 | A | ATTATATA others(841): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 67 | 0.0149 | 848 | c.683 others(867): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(841): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0001 | 1 | 170 | 0.0059 | 848 | c.-30 others(859): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(841): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0123 | 1 | 125 | 0.0080 | 848 | c.-49 others(859): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATAAAAA others(841): Show |
upstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 196 | 0.0051 | 848 | c.-28 others(859): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(841): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0168 | 1 | 4 | 0.2500 | 848 | c.279 others(863): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15031103 | C | CACATTCC others(841): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0050 | 1 | 166 | 0.0060 | 848 | c.-45 others(869): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841586 | C | CCACAGGC others(841): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 76 | 0.0132 | 848 | c.361 others(867): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408342 | G | GAGTTTAG others(841): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0153 | 1 | 266 | 0.0038 | 848 | c.*12 others(859): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 323 | chr1 | TogoVar | |||||||
PIAS4_chr19_4002736_4044386 | 4011690 | T | TTTGGTGT others(841): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0289 | 1 | 330 | 0.0030 | 848 | c.28- others(863): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
PLEKHA4_chr19_48832097_48873617 | 48834455 | G | GGCCTGGA others(841): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 267 | 0.0037 | 848 | c.*28 others(859): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2641 | chr19 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 100716 | C | CCTGTAGG others(841): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0144 | 1 | 194 | 0.0052 | 848 | c.45+ others(863): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 100998 | G | GTTGTGAG others(841): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0142 | 1 | 207 | 0.0048 | 848 | c.45+ others(863): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502691 | A | ATGTGGGA others(841): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 1 | 170 | 0.0059 | 848 | c.147 others(865): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325175 | T | TGAGTGAG others(841): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 393 | 0.0025 | 848 | c.194 others(865): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325251 | A | AGAGTGAG others(841): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 | 1 | 360 | 0.0028 | 848 | c.194 others(865): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(841): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0084 | a0001c0002t0084g0139 | 1 | 70 | 0.0143 | 848 | c.438 others(867): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(841): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0013 | a0001c0013t0041 | a0001c0013t0041g0025 | 1 | 70 | 0.0143 | 848 | c.438 others(867): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(841): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02965.hp1 HG06807.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0045a0001c0001t0083a0001c0004t0007others(2): Show | a0001c0001t0045g0024 a0001c0001t0083g0027 a0001c0004t0007g0063 others(2): Show |
5 | 74 | 0.0676 | 848 | c.438 others(867): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(841): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03239.hp2 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0063a0002c0003t0002 | a0001c0004t0063g0016 a0002c0003t0002g0102 |
2 | 71 | 0.0282 | 848 | c.438 others(867): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(841): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0060 | 1 | 70 | 0.0143 | 848 | c.438 others(867): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492423 | C | CTCCCGGG others(841): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 276 | 0.0036 | 848 | c.126 others(867): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133668573 | T | TCTCCCTC others(841): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0146 | 1 | 256 | 0.0039 | 848 | c.249 others(867): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169242825 | T | TTCCCACC others(841): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0065 | 1 | 358 | 0.0028 | 848 | c.695 others(863): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(841): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02683.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0039 |
2 | 13 | 0.1538 | 848 | c.*22 others(859): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | |||||||
TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(841): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0102 | 1 | 270 | 0.0037 | 848 | c.184 others(867): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(841): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0009 | a0009c0058 | a0009c0058t0001 | a0009c0058t0001g0101 | 1 | 128 | 0.0078 | 848 | c.184 others(867): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(841): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0032 | a0002c0032t0003 | a0002c0032t0003g0014 | 1 | 128 | 0.0078 | 848 | c.184 others(867): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(841): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | 848 | c.*29 others(859): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3221974 | T | TCACCACA others(841): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 357 | 0.0028 | 848 | c.*27 others(859): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2302 | chr6 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870364 | C | CCACACCC others(841): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 290 | 0.0034 | 848 | c.*35 others(867): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar |