| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(655): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 4 | 0.2500 | 662 | c.114 others(681): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| MS4A4E_chr11_60195270_60248137 | 60206512 | T | TGTATATA others(655): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 2 | 60 | 0.0333 | 662 | c.484 others(677): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(655): Show |
intron_variant | MODIFIER | NA19057.hp2 NA19080.hp1 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004 | a0003c0003t0001g0083 a0003c0003t0004g0078 |
2 | 157 | 0.0127 | 662 | c.358 others(679): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(655): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01516.hp2 others(6): Show |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0003a0003c0003t0004a0005c0005t0002others(1): Show | a0003c0003t0003g0001 a0003c0003t0004g0297 a0003c0003t0004g0298 others(5): Show |
9 | 164 | 0.0549 | 662 | c.358 others(679): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(655): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0129 | 1 | 156 | 0.0064 | 662 | c.358 others(679): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(655): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18962.hp1 NA18973.hp1 others(1): Show |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0004a0005c0005t0003 | a0003c0003t0004g0086 a0003c0003t0004g0087 a0003c0003t0004g0088 others(1): Show |
4 | 159 | 0.0252 | 662 | c.358 others(679): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(655): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0064 a0005c0005t0002g0065 |
2 | 157 | 0.0127 | 662 | c.358 others(679): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(655): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0020 |
2 | 197 | 0.0102 | 662 | c.-28 others(673): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
| NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(655): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0013 | 1 | 30 | 0.0333 | 662 | c.433 others(679): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
| NTM_chr11_131365615_132341822 | 131680400 | C | CGTCTGTG others(655): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0002g0022 others(4): Show |
7 | 32 | 0.2188 | 662 | c.83- others(681): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(655): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0001a0001c0005t0005 | a0001c0001t0001g0010 a0001c0001t0001g0143 a0001c0001t0001g0149 others(6): Show |
9 | 10 | 0.9000 | 662 | c.162 others(681): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
| P2RX5_chr17_3668227_3701155 | 3685648 | G | GCGTCCCC others(655): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01928.hp1 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 309 | 0.0097 | 662 | c.981 others(679): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(655): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 122 | 0.0082 | 662 | c.*70 others(673): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
| PKP3_chr11_389209_409908 | 398401 | G | GTCACCTC others(655): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0098 | 1 | 214 | 0.0047 | 662 | c.106 others(679): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PLCB1_chr20_8127266_8889900 | 8662119 | T | TATATATA others(655): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 25 | 0.0400 | 662 | c.862 others(679): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(655): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0059 | 1 | 199 | 0.0050 | 662 | c.-46 others(673): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | |||||||
| PWWP2B_chr10_132392200_132422859 | 132392570 | A | ATGGTGAT others(655): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 NA19043.hp2 |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0001a0005c0012t0001 | a0001c0001t0001g0010 a0005c0012t0001g0079 |
2 | 329 | 0.0061 | 662 | c.-46 others(673): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4629 | chr10 | TogoVar | |||||||
| RAB3C_chr5_58578075_58864394 | 58597430 | C | CACAATAT others(655): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 218 | 0.0046 | 662 | c.24+ others(679): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCCAC others(655): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18971.hp2 NA18990.hp1 others(3): Show |
a0001a0002a0003 | a0001c0004a0002c0002a0003c0001 | a0001c0004t0035a0002c0002t0002a0003c0001t0001 | a0001c0004t0035g0248 a0002c0002t0002g0249 a0003c0001t0001g0244 others(3): Show |
6 | 197 | 0.0305 | 662 | c.89- others(675): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
| SCUBE1_chr22_43192280_43348372 | 43339802 | T | TCCCCCCA others(655): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0005 | a0005c0016 | a0005c0016t0002 | a0005c0016t0002g0024 | 1 | 272 | 0.0037 | 662 | c.89- others(675): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
| SCUBE2_chr11_9014476_9096599 | 9047059 | A | AGCGTGAT others(655): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0193 | 1 | 300 | 0.0033 | 662 | c.200 others(679): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | |||||||
| SCUBE2_chr11_9014476_9096599 | 9047059 | A | AGCGTGAT others(655): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0212 | 1 | 300 | 0.0033 | 662 | c.200 others(679): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | |||||||
| SCUBE2_chr11_9014476_9096599 | 9047059 | A | AGTGTGAT others(655): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG03490.hp2 others(1): Show |
a0001a0003 | a0001c0020a0003c0011 | a0001c0020t0001a0003c0011t0001 | a0001c0020t0001g0055 a0003c0011t0001g0129 a0003c0011t0001g0130 others(1): Show |
4 | 303 | 0.0132 | 662 | c.200 others(679): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | |||||||
| SCUBE2_chr11_9014476_9096599 | 9047059 | A | AGTGTGAT others(655): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0006a0001c0010others(7): Show | a0001c0002t0001a0001c0006t0002a0001c0006t0006others(17): Show | a0001c0002t0001g0009 a0001c0002t0001g0021 a0001c0002t0001g0100 others(48): Show |
51 | 350 | 0.1457 | 662 | c.200 others(679): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | |||||||
| SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(655): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0133 | 1 | 6 | 0.1667 | 662 | c.949 others(677): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | |||||||
| SLC25A41_chr19_6421037_6438763 | 6429378 | A | AAGGGAGG others(655): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0075 | 1 | 348 | 0.0029 | 662 | c.624 others(677): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
| SLC35F1_chr6_117902264_118322671 | 117923605 | A | ATACATAT others(655): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 129 | 0.0078 | 662 | c.173 others(681): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SLC44A5_chr1_75197129_75616114 | 75280139 | T | TATATATT others(655): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0119 |
2 | 124 | 0.0161 | 662 | c.176 others(679): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
| SLC6A3_chr5_1387794_1450440 | 1422701 | A | ACTGCCCA others(655): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18941.hp1 NA18960.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0031 | a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0080 others(6): Show |
10 | 162 | 0.0617 | 662 | c.654 others(677): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 4/14 | chr5 | TogoVar | |||||||
| SLC6A3_chr5_1387794_1450440 | 1422701 | A | ACTGCCCA others(655): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0062 a0001c0001t0002g0166 |
2 | 154 | 0.0130 | 662 | c.654 others(677): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 4/14 | chr5 | TogoVar | |||||||
| SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(655): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 138 | 0.0290 | 662 | c.*12 others(673): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
| SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(655): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 135 | 0.0074 | 662 | c.*12 others(673): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
| SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGAAGGA others(655): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 662 | c.*12 others(673): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 1221590 | G | GTCTCTGC others(655): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172 | 1 | 180 | 0.0056 | 662 | c.719 others(681): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SNX9_chr6_157818246_157950077 | 157827544 | T | TTATAGTT others(655): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 1 | 241 | 0.0041 | 662 | c.12+ others(677): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SPAAR_chr9_35904490_35916686 | 35914334 | G | GTGTGTGT others(655): Show |
downstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0002 | 1 | 357 | 0.0028 | 662 | c.*36 others(673): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2649 | chr9 | TogoVar | |||||||
| SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(655): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 80 | 0.0125 | 662 | c.*64 others(673): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
| TAF4_chr20_61969798_62070881 | 62058768 | C | CGGGGGCC others(655): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02300.hp1 HG02735.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0248 a0001c0002t0001g0285 a0001c0002t0006g0249 |
3 | 239 | 0.0126 | 662 | c.136 others(681): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
| TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(655): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18945.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0128 a0001c0001t0001g0170 |
3 | 30 | 0.1000 | 662 | c.113 others(681): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1272715 | A | ACACATCA others(655): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0379 | 1 | 371 | 0.0027 | 662 | c.228 others(679): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
| TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(655): Show |
intron_variant | MODIFIER | NA18971.hp1 NA18971.hp2 |
a0002a0008 | a0002c0002a0008c0007 | a0002c0002t0001a0008c0007t0003 | a0002c0002t0001g0078 a0008c0007t0003g0018 |
2 | 11 | 0.1818 | 662 | c.-25 others(681): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| TP53AIP1_chr11_128930370_128947871 | 128930556 | C | CTGGGGTT others(655): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 434 | 0.0023 | 662 | c.*50 others(673): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4813 | chr11 | TogoVar | |||||||
| TUBGCP5_chr15_22994177_23044569 | 23044456 | T | TTCATAAC others(655): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 350 | 0.0029 | 662 | c.-49 others(673): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4888 | chr15 | TogoVar | |||||||
| UBE2J2_chr1_1248912_1278854 | 1249561 | T | TGGACCGA others(655): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 322 | 0.0031 | 662 | c.*56 others(673): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4350 | chr1 | TogoVar | |||||||
| VAMP2_chr17_8154149_8167948 | 8166152 | G | GGCGCAGT others(655): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0055 | 1 | 2 | 0.5000 | 662 | c.-32 others(673): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 3205 | chr17 | TogoVar | |||||||
| VAMP2_chr17_8154149_8167948 | 8166152 | G | GGCGCAGT others(655): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00735.hp2 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0048 others(33): Show |
100 | 101 | 0.9901 | 662 | c.-32 others(673): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 3205 | chr17 | TogoVar | |||||||
| ZNF365_chr10_62369369_62407450 | 62370997 | A | ATATATAT others(655): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 243 | 0.0041 | 662 | c.-34 others(673): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3371 | chr10 | TogoVar | |||||||
| ASAP1_chr8_130047104_130448674 | 130049484 | G | GGGGGAAC others(656): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 291 | 0.0034 | 663 | c.*52 others(674): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2619 | chr8 | TogoVar | |||||||
| AZU1_chr19_822837_837018 | 835528 | A | AGCCCCCA others(656): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 313 | 0.0032 | 663 | c.*36 others(674): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3511 | chr19 | TogoVar | |||||||
| B4GALNT4_chr11_364499_387117 | 374688 | G | GAGGGAGG others(656): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0025 | a0025c0028 | a0025c0028t0001 | a0025c0028t0001g0052 | 1 | 155 | 0.0065 | 663 | c.784 others(678): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |