| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PLXNB2_chr22_50269979_50312646 | 50276351 | A | AGGGTGCA others(787): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0006a0001c0038others(9): Show | a0001c0002t0002a0001c0006t0002a0001c0038t0002others(9): Show | a0001c0002t0002g0033a0001c0002t0002g0133a0001c0002t0002g0139others(48): Show | 52 | 302 | 0.1722 | 794 | c.533 others(811): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
| PLXNB2_chr22_50269979_50312646 | 50276351 | A | AGGGTGCA others(787): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00733.hp1 others(33): Show |
a0001a0002a0003others(8): Show | a0001c0002a0002c0009a0003c0018others(8): Show | a0001c0002t0002a0002c0009t0002a0003c0018t0002others(9): Show | a0001c0002t0002g0154a0002c0009t0002g0016a0002c0009t0002g0017others(33): Show | 36 | 302 | 0.1192 | 794 | c.533 others(811): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
| PLXNB2_chr22_50269979_50312646 | 50276351 | A | AGGGTGCA others(787): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0220 | 1 | 302 | 0.0033 | 794 | c.533 others(811): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
| PLXNB2_chr22_50269979_50312646 | 50276351 | A | AGGGTGCA others(787): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA18522.hp1 |
a0002a0004 | a0002c0063a0004c0025 | a0002c0063t0002a0004c0025t0002 | a0002c0063t0002g0255a0004c0025t0002g0006 | 3 | 302 | 0.0099 | 794 | c.533 others(811): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 340766 | T | TCCCACCC others(787): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 133 | 0.0075 | 794 | c.-21 others(813): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(787): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 324 | 0.0031 | 794 | c.115 others(811): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| TSPAN9_chr12_3072379_3291559 | 3198190 | G | GCTCACCA others(787): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0099 | a0001c0002t0099g0227 | 1 | 288 | 0.0035 | 794 | c.-17 others(811): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 2/8 | chr12 | TogoVar | ||||||
| ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(787): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0054 | 1 | 290 | 0.0035 | 794 | c.205 others(813): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370953 | G | GTGATATA others(787): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 350 | 0.0029 | 794 | c.-35 others(805): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3415 | chr10 | TogoVar | ||||||
| ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(787): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 322 | 0.0031 | 794 | c.4-1 others(807): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(788): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 376 | 0.0027 | 795 | c.63+ others(808): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| CAPN11_chr6_44153820_44189401 | 44181824 | C | CCACACTC others(788): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0289 | 1 | 460 | 0.0022 | 795 | c.193 others(812): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CAPN11_chr6_44153820_44189401 | 44181824 | C | CCACACTC others(788): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0323 | 1 | 460 | 0.0022 | 795 | c.193 others(812): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGAGAA others(788): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0162 | 1 | 288 | 0.0035 | 795 | c.303 others(814): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61389837 | A | AGTCATAG others(788): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01978.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(7): Show | a0001c0001t0001g0046a0001c0001t0002g0060a0001c0001t0014g0106others(7): Show | 10 | 106 | 0.0943 | 795 | c.169 others(816): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(788): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0145 | 1 | 204 | 0.0049 | 795 | c.223 others(816): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | ||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(788): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02083.hp1 NA18952.hp1 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0009 | a0001c0004t0005g0016a0001c0004t0005g0220a0001c0004t0005g0224others(6): Show | 11 | 410 | 0.0268 | 795 | c.138 others(814): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(788): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142a0001c0001t0001g0154 | 2 | 410 | 0.0049 | 795 | c.138 others(814): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(788): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00597.hp1 others(92): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0022others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0009others(62): Show | 95 | 410 | 0.2317 | 795 | c.138 others(814): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(788): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01358.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0005a0001c0005t0018others(1): Show | a0001c0005t0004g0011a0001c0005t0005g0109a0001c0005t0018g0119others(1): Show | 6 | 410 | 0.0146 | 795 | c.138 others(814): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(788): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0015a0001c0004t0006g0049a0001c0004t0006g0226others(2): Show | 8 | 410 | 0.0195 | 795 | c.138 others(814): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(788): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0237 | 1 | 410 | 0.0024 | 795 | c.138 others(814): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(788): Show |
intron_variant | MODIFIER | HG02004.hp1 HG04184.hp2 HG04199.hp1 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0035a0001c0005t0004g0135 | 3 | 410 | 0.0073 | 795 | c.138 others(814): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(788): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0262 | 1 | 410 | 0.0024 | 795 | c.138 others(814): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(788): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG02083.hp2 NA18952.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0028 | a0001c0001t0007g0009a0001c0001t0007g0021a0001c0001t0007g0022others(6): Show | 10 | 382 | 0.0262 | 795 | c.*65 others(806): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | ||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(788): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104a0001c0001t0001g0111 | 2 | 382 | 0.0052 | 795 | c.*65 others(806): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | ||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(788): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00597.hp2 others(89): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0015others(81): Show | 92 | 382 | 0.2408 | 795 | c.*65 others(806): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | ||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(788): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01358.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0019a0003c0003t0004 | a0001c0001t0019g0138a0001c0001t0019g0139a0003c0003t0004g0028others(3): Show | 6 | 382 | 0.0157 | 795 | c.*65 others(806): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | ||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(788): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001a0001c0001t0005g0034a0001c0001t0005g0211others(3): Show | 8 | 382 | 0.0209 | 795 | c.*65 others(806): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | ||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(788): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0067 | 1 | 382 | 0.0026 | 795 | c.*65 others(806): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | ||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(788): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 HG04184.hp2 HG04199.hp1 |
a0003a0004 | a0003c0003a0004c0005 | a0003c0003t0004a0003c0003t0020a0004c0005t0004 | a0003c0003t0004g0002a0003c0003t0020g0141a0004c0005t0004g0169 | 3 | 382 | 0.0079 | 795 | c.*65 others(806): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | ||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(788): Show |
downstream_gene_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0183 | 1 | 382 | 0.0026 | 795 | c.*65 others(806): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | ||||||
| COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(788): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 426 | 0.0024 | 795 | c.-84 others(804): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | ||||||
| COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(788): Show |
upstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 426 | 0.0024 | 795 | c.-84 others(804): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | ||||||
| CPNE4_chr3_131528569_132040014 | 131978270 | T | TTTATATA others(788): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0089 | 1 | 94 | 0.0106 | 795 | c.-2+ others(812): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| CPNE4_chr3_131528569_132040014 | 131978292 | T | TTTATATA others(788): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 | 1 | 94 | 0.0106 | 795 | c.-2+ others(812): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(788): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0108 | 1 | 230 | 0.0044 | 795 | c.724 others(814): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14471356 | A | AATATGTG others(788): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0018 | 1 | 148 | 0.0068 | 795 | c.183 others(814): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137716505 | G | GTTGGTGT others(788): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 170 | 0.0059 | 795 | c.86- others(808): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | ||||||
| EML1_chr14_99788413_99947060 | 99928107 | G | GTGGTGGT others(788): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0016 | a0003c0016t0014 | a0003c0016t0014g0060 | 1 | 288 | 0.0035 | 795 | c.190 others(814): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| FAM118B_chr11_126206782_126267968 | 126226288 | C | CAGGCCAG others(788): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127a0001c0001t0002g0156a0001c0001t0002g0157others(1): Show | 4 | 346 | 0.0116 | 795 | c.-76 others(812): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| FAM118B_chr11_126206782_126267968 | 126226382 | C | CAGGCCAG others(788): Show |
intron_variant | MODIFIER | HG02630.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0130 | 2 | 346 | 0.0058 | 795 | c.-76 others(812): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| FAM118B_chr11_126206782_126267968 | 126226429 | C | CAGGCCAG others(788): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0114a0001c0001t0001g0115others(6): Show | 9 | 346 | 0.0260 | 795 | c.-76 others(812): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(788): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0004 | 1 | 374 | 0.0027 | 795 | c.-51 others(806): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | ||||||
| FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(788): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 374 | 0.0027 | 795 | c.-51 others(806): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | ||||||
| FLT3_chr13_27998274_28105576 | 27999091 | G | GTATATAC others(788): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0128 | 1 | 292 | 0.0034 | 795 | c.*49 others(806): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180635721 | A | AAGTATGG others(788): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02630.hp1 HG02895.hp1 others(4): Show |
a0001a0002a0011 | a0001c0001a0002c0003a0011c0016 | a0001c0001t0001a0002c0003t0019a0011c0016t0011 | a0001c0001t0001g0180a0001c0001t0001g0182a0001c0001t0001g0183others(4): Show | 7 | 388 | 0.0180 | 795 | c.59- others(810): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
| IFFO2_chr1_18899280_18961676 | 18925808 | T | TTGGATGG others(788): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0034 | 1 | 376 | 0.0027 | 795 | c.666 others(812): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(788): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0029 | a0002c0029t0002 | a0002c0029t0002g0064 | 1 | 88 | 0.0114 | 795 | c.507 others(814): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(788): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0038 | a0038c0088 | a0038c0088t0001 | a0038c0088t0001g0013 | 1 | 186 | 0.0054 | 795 | c.956 others(812): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar |