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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2786): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 159 | 0.0063 | 2793 | c.-27 others(2810): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2786): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0240 |
2 | 160 | 0.0125 | 2793 | c.-27 others(2810): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2786): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 18 | 0.0556 | 2793 | c.372 others(2808): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161578 | A | AGACCCCT others(2786): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 206 | 0.0049 | 2793 | c.*26 others(2804): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2350 | chr11 | TogoVar | |||||||
TMEM70_chr8_73971195_73987783 | 73973430 | T | TCCTTCTT others(2786): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 400 | 0.0025 | 2793 | c.-28 others(2804): Show |
TMEM70 | ENSG00000175606.11 | transcript | ENST00000312184.6 | protein_coding | 2764 | chr8 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11917474 | A | ACTTTTAT others(2786): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 241 | 0.0041 | 2793 | c.*38 others(2804): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 2547 | chr10 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2787): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0242 | 1 | 288 | 0.0035 | 2794 | c.96+ others(2809): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2787): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 50 | 0.0200 | 2794 | c.147 others(2811): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(2787): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0010 | 1 | 32 | 0.0313 | 2794 | c.56- others(2807): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(2787): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 9 | 0.1111 | 2794 | c.135 others(2811): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2787): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 159 | 0.0063 | 2794 | c.-27 others(2811): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2787): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG03490.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0171 a0001c0001t0001g0172 others(3): Show |
6 | 164 | 0.0366 | 2794 | c.-27 others(2811): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654719 | G | GAAAGAAA others(2787): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 258 | 0.0039 | 2794 | c.-27 others(2811): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(2787): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0170 | 1 | 112 | 0.0089 | 2794 | c.719 others(2813): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(2787): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172 | 1 | 112 | 0.0089 | 2794 | c.719 others(2813): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41649589 | T | TGATCATT others(2787): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0014 | a0014c0017 | a0014c0017t0013 | a0014c0017t0013g0250 | 1 | 239 | 0.0042 | 2794 | c.461 others(2815): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 37/44 | chr13 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(2788): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03209.hp1 |
a0001a0020 | a0001c0001a0020c0089 | a0001c0001t0010a0020c0089t0041 | a0001c0001t0010g0344 a0020c0089t0041g0343 |
2 | 141 | 0.0142 | 2795 | c.37+ others(2808): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTSS1_chr8_124545784_124733473 | 124615293 | T | TAAAAGTT others(2788): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0105 | 1 | 283 | 0.0035 | 2795 | c.209 others(2814): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124615293 | T | TAAAAGTT others(2788): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 | 1 | 283 | 0.0035 | 2795 | c.209 others(2814): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2788): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 159 | 0.0063 | 2795 | c.-27 others(2812): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2788): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 159 | 0.0063 | 2795 | c.-27 others(2812): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2788): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 159 | 0.0063 | 2795 | c.-27 others(2812): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2788): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 159 | 0.0063 | 2795 | c.-27 others(2812): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGAGGGGA others(2788): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0032 | 1 | 20 | 0.0500 | 2795 | c.351 others(2814): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2788): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 18 | 0.0556 | 2795 | c.372 others(2810): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41649589 | T | TGATCATT others(2788): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0219 | 1 | 239 | 0.0042 | 2795 | c.461 others(2816): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 37/44 | chr13 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5305396 | A | ACACACAC others(2789): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02647.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0002a0001c0010t0002a0002c0002t0028others(4): Show | a0001c0001t0002g0059 a0001c0010t0002g0325 a0002c0002t0028g0204 others(4): Show |
7 | 327 | 0.0214 | 2796 | c.318 others(2815): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2789): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0066 | 1 | 371 | 0.0027 | 2796 | c.96+ others(2811): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2789): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0093 | 1 | 2 | 0.5000 | 2796 | c.126 others(2813): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FUBP1_chr1_77939055_77984072 | 77980575 | T | TAACAAAC others(2789): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0003g0071 |
2 | 274 | 0.0073 | 2796 | c.-15 others(2807): Show |
FUBP1 | ENSG00000162613.18 | transcript | ENST00000370768.7 | protein_coding | 1504 | chr1 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399254 | C | CACCATCA others(2789): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0307 | 1 | 312 | 0.0032 | 2796 | c.-25 others(2813): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2789): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 159 | 0.0063 | 2796 | c.-27 others(2813): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249468 | G | GGAGGGAG others(2789): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0153 | 1 | 209 | 0.0048 | 2796 | c.206 others(2815): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41649589 | T | TGATCATT others(2789): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0197 | 1 | 239 | 0.0042 | 2796 | c.461 others(2817): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 37/44 | chr13 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2790): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 146 | 0.0068 | 2797 | c.127 others(2816): 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(2790): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 |
2 | 147 | 0.0136 | 2797 | c.127 others(2816): 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(2790): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 146 | 0.0068 | 2797 | c.127 others(2816): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CUEDC2_chr10_102418249_102437574 | 102425699 | T | TAGAAGGG others(2790): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 388 | 0.0026 | 2797 | c.-10 others(2812): Show |
CUEDC2 | ENSG00000107874.11 | transcript | ENST00000369937.5 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2790): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0024 | 1 | 158 | 0.0063 | 2797 | c.126 others(2814): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FBXL15_chr10_102415836_102428136 | 102425699 | T | TAGAAGGG others(2790): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 366 | 0.0027 | 2797 | c.*27 others(2808): Show |
FBXL15 | ENSG00000107872.14 | transcript | ENST00000369956.8 | protein_coding | 2564 | chr10 | TogoVar | |||||||
FUBP1_chr1_77939055_77984072 | 77980575 | T | TAACAAAC others(2790): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 274 | 0.0073 | 2797 | c.-15 others(2808): Show |
FUBP1 | ENSG00000162613.18 | transcript | ENST00000370768.7 | protein_coding | 1504 | chr1 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2790): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0020 | a0020c0017 | a0020c0017t0001 | a0020c0017t0001g0028 | 1 | 8 | 0.1250 | 2797 | c.723 others(2814): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2790): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 4 | 0.2500 | 2797 | c.522 others(2814): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2790): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 159 | 0.0063 | 2797 | c.-27 others(2814): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2790): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 NA18973.hp1 NA19057.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0055 |
5 | 7 | 0.7143 | 2797 | c.-28 others(2808): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2790): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 3 | 0.3333 | 2797 | c.-28 others(2808): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2790): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0257 | 1 | 18 | 0.0556 | 2797 | c.372 others(2812): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2791): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0221 | 1 | 288 | 0.0035 | 2798 | c.96+ others(2813): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2791): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0005 | 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 | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 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 |