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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2791): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 146 | 0.0068 | 2798 | c.127 others(2817): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2791): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02886.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 a0001c0001t0002g0144 a0001c0001t0002g0244 |
3 | 148 | 0.0203 | 2798 | c.127 others(2817): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2791): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 159 | 0.0063 | 2798 | c.-27 others(2815): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2792): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 146 | 0.0068 | 2799 | c.127 others(2818): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2792): Show |
intron_variant | MODIFIER | HG02896.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0112 a0001c0001t0004g0037 |
2 | 147 | 0.0136 | 2799 | c.127 others(2818): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653979 | G | GAATAATG others(2792): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0101 | 1 | 228 | 0.0044 | 2799 | c.139 others(2820): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45710951 | G | GGAGGTTG others(2792): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 19 | 0.0526 | 2799 | c.153 others(2818): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2792): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0198 | 1 | 159 | 0.0063 | 2799 | c.-27 others(2816): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2792): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 159 | 0.0063 | 2799 | c.-27 others(2816): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2792): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 159 | 0.0063 | 2799 | c.-27 others(2816): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2792): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01358.hp2 HG02015.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 others(2): Show |
5 | 163 | 0.0307 | 2799 | c.-27 others(2816): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(2792): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0256 | 1 | 259 | 0.0039 | 2799 | c.101 others(2818): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2792): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0143 | 1 | 18 | 0.0556 | 2799 | c.372 others(2814): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SMG7_chr1_183467499_183559191 | 183481866 | G | GCCCAGGC others(2792): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0192 a0001c0001t0007g0193 |
2 | 355 | 0.0056 | 2799 | c.29+ others(2814): Show |
SMG7 | ENSG00000116698.22 | transcript | ENST00000688051.1 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(2792): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 113 | 0.0088 | 2799 | c.*53 others(2810): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2793): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0228 | 1 | 288 | 0.0035 | 2800 | c.96+ others(2815): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2793): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0212 | 1 | 288 | 0.0035 | 2800 | c.96+ others(2815): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68758757 | T | TTATTTTT others(2793): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 104 | 0.0096 | 2800 | c.140 others(2821): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2793): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 146 | 0.0068 | 2800 | c.127 others(2819): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
IPP_chr1_45693711_45755653 | 45710951 | G | GGAGGTTG others(2793): Show |
intron_variant | MODIFIER | HG02109.hp2 HG06807.hp1 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0095 a0002c0002t0001g0109 a0002c0002t0006g0121 |
3 | 21 | 0.1429 | 2800 | c.153 others(2819): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2793): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0020 | a0020c0017 | a0020c0017t0001 | a0020c0017t0001g0027 | 1 | 8 | 0.1250 | 2800 | c.723 others(2817): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649063 | A | ATGCCCAC others(2793): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 308 | 0.0032 | 2800 | c.112 others(2817): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649113 | A | ATGCCCAC others(2793): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226 | 1 | 290 | 0.0034 | 2800 | c.112 others(2817): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2793): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02083.hp1 HG02129.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0160 others(5): Show |
8 | 166 | 0.0482 | 2800 | c.-27 others(2817): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2793): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 159 | 0.0063 | 2800 | c.-27 others(2817): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2793): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 7 | 0.1429 | 2800 | c.*27 others(2811): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2793): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG01167.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0054 others(3): Show |
10 | 12 | 0.8333 | 2800 | c.-28 others(2811): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2793): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 3 | 0.3333 | 2800 | c.-28 others(2811): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2793): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0243 | 1 | 18 | 0.0556 | 2800 | c.372 others(2815): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SMG7_chr1_183467499_183559191 | 183481866 | G | GCCCAGGC others(2793): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 a0001c0001t0003g0195 |
2 | 355 | 0.0056 | 2800 | c.29+ others(2815): Show |
SMG7 | ENSG00000116698.22 | transcript | ENST00000688051.1 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2793): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0355 | 1 | 280 | 0.0036 | 2800 | c.-18 others(2821): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(2794): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0158 | 1 | 206 | 0.0049 | 2801 | c.106 others(2820): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344529 | G | GCTGTGTG others(2794): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0030 | 1 | 261 | 0.0038 | 2801 | c.62+ others(2814): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344529 | G | GCTGTGTG others(2794): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0031 | 1 | 261 | 0.0038 | 2801 | c.62+ others(2814): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200733 | C | CGGGGTCA others(2794): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0094 | 1 | 278 | 0.0036 | 2801 | c.955 others(2818): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EI24_chr11_125564477_125589684 | 125589067 | A | AAGAACTA others(2794): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0104 | 1 | 322 | 0.0031 | 2801 | c.*53 others(2812): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 4384 | chr11 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210653979 | G | GAATAATG others(2794): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0228 | 1 | 228 | 0.0044 | 2801 | c.139 others(2822): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2794): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0003 | 1 | 10 | 0.1000 | 2801 | c.153 others(2820): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45710951 | G | GGAGGTTG others(2794): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0105 | 1 | 19 | 0.0526 | 2801 | c.153 others(2820): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45710951 | G | GGAGGTTG others(2794): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01099.hp2 HG02257.hp2 others(4): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0082 a0002c0002t0001g0106 a0002c0002t0001g0119 others(4): Show |
7 | 25 | 0.2800 | 2801 | c.153 others(2820): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2794): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0207 |
2 | 160 | 0.0125 | 2801 | c.-27 others(2818): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2794): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 159 | 0.0063 | 2801 | c.-27 others(2818): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2794): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 159 | 0.0063 | 2801 | c.-27 others(2818): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2794): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2801 | c.*44 others(2812): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2794): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 HG02074.hp2 HG02129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 223 | 0.0135 | 2801 | c.*44 others(2812): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2794): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0329 | 1 | 18 | 0.0556 | 2801 | c.372 others(2816): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2794): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0317 | 1 | 18 | 0.0556 | 2801 | c.372 others(2816): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SMG7_chr1_183467499_183559191 | 183481866 | G | GCCCAGGC others(2794): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 354 | 0.0028 | 2801 | c.29+ others(2816): Show |
SMG7 | ENSG00000116698.22 | transcript | ENST00000688051.1 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23043353 | G | GGAGGTGC others(2794): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 NA18942.hp2 NA18948.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0152 others(2): Show |
6 | 327 | 0.0183 | 2801 | c.-38 others(2812): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3785 | chr15 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344420 | G | GTGTGTGT others(2795): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0162 | 1 | 119 | 0.0084 | 2802 | c.62+ others(2815): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar |