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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT14_chr2_30905467_31143440 | 30989677 | T | TTAAAATA others(16): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0089 | 1 | 226 | 0.0044 | 23 | c.299 others(40): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16215916 | A | AAACAAAA others(16): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01175.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0003a0002c0003t0001others(6): Show | a0001c0001t0001g0257a0001c0002t0003g0147a0002c0003t0001g0123others(37): Show | 40 | 388 | 0.1031 | 23 | c.139 others(42): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GALNT15_chr3_16169680_16235165 | 16215916 | A | AAACAAAA others(16): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03834.hp1 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0192a0002c0003t0009g0194 | 2 | 388 | 0.0052 | 23 | c.139 others(42): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GALNT15_chr3_16169680_16235165 | 16215916 | A | AAACAAAC others(16): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0209 | 1 | 388 | 0.0026 | 23 | c.139 others(42): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GALNT15_chr3_16169680_16235165 | 16215916 | A | AACAAAAA others(16): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0141 | 1 | 388 | 0.0026 | 23 | c.139 others(42): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GALNT15_chr3_16169680_16235165 | 16233094 | C | CTTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00639.hp2 others(37): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0007others(10): Show | a0001c0001t0002g0001a0001c0001t0002g0013a0001c0001t0002g0085others(37): Show | 40 | 388 | 0.1031 | 23 | c.*55 others(34): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2930 | chr3 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69264819 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0025a0001c0001t0010g0026 | 2 | 306 | 0.0065 | 23 | c.177 others(40): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GALNT16_chr14_69255158_69359466 | 69356554 | C | CTTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183a0001c0001t0002g0197 | 2 | 306 | 0.0065 | 23 | c.*43 others(34): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 2089 | chr14 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71245848 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01258.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0008a0001c0001t0012g0014 | 2 | 76 | 0.0263 | 23 | c.239 others(42): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71377114 | A | AAAAATAT others(16): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0016 | 1 | 76 | 0.0132 | 23 | c.423 others(42): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT18_chr11_11265877_11627005 | 11497371 | C | CACACACA others(16): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 260 | 0.0039 | 23 | c.236 others(42): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230222031 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01175.hp2 HG02055.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0015a0001c0002t0001a0001c0002t0020others(5): Show | a0001c0001t0015g0282a0001c0002t0001g0052a0001c0002t0001g0090others(14): Show | 17 | 324 | 0.0525 | 23 | c.375 others(42): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GALNT2_chr1_230062238_230287122 | 230274971 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01169.hp2 HG01175.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0036a0001c0001t0037 | a0001c0001t0010g0039a0001c0001t0010g0102a0001c0001t0010g0124others(6): Show | 9 | 324 | 0.0278 | 23 | c.156 others(40): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GALNT7_chr4_173163811_173328967 | 173216727 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0208 | 1 | 266 | 0.0038 | 23 | c.127 others(42): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132192694 | C | CCCTCCCT others(16): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01175.hp1 HG01943.hp1 others(12): Show |
a0001a0006 | a0001c0005a0001c0007a0001c0010others(4): Show | a0001c0005t0001a0001c0007t0001a0001c0010t0001others(4): Show | a0001c0005t0001g0018a0001c0005t0001g0026a0001c0005t0001g0037others(12): Show | 15 | 183 | 0.0820 | 23 | c.*44 others(34): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 3677 | chr12 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 171903546 | A | AGGCGGCA others(16): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 40 | 0.0250 | 23 | c.138 others(42): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172176346 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 40 | 0.0250 | 23 | c.139 others(42): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77281079 | A | AAATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0065 | 1 | 366 | 0.0027 | 23 | c.*12 others(36): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3180 | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77281091 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 NA18951.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0007 | a0001c0001t0003g0275a0001c0002t0007g0144 | 2 | 366 | 0.0055 | 23 | c.*12 others(36): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3192 | chr18 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76077966 | C | CGGGGGGG others(16): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 23 | c.*53 others(32): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 430 | chr17 | TogoVar | ||||||
GAMT_chr19_1392026_1406542 | 1394531 | C | CGGACCGC others(16): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(5): Show | 61 | 402 | 0.1517 | 23 | c.*28 others(34): Show |
GAMT | ENSG00000130005.13 | transcript | ENST00000252288.8 | protein_coding | 2494 | chr19 | TogoVar | ||||||
GAMT_chr19_1392026_1406542 | 1394555 | G | GGACCGCG others(16): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 402 | 0.0025 | 23 | c.*28 others(34): Show |
GAMT | ENSG00000130005.13 | transcript | ENST00000252288.8 | protein_coding | 2470 | chr19 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115661831 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02145.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0173a0001c0001t0001g0197others(5): Show | 8 | 352 | 0.0227 | 23 | c.31- others(40): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GAREM1_chr18_32258522_32475882 | 32363920 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0012 | a0012c0029 | a0012c0029t0004 | a0012c0029t0004g0087 | 1 | 192 | 0.0052 | 23 | c.262 others(42): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
GAREM1_chr18_32258522_32475882 | 32364026 | A | ATATATGT others(16): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02976.hp1 NA19012.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0008t0008 | a0001c0001t0003g0164a0001c0008t0008g0020a0001c0008t0008g0025 | 3 | 192 | 0.0156 | 23 | c.262 others(42): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
GAREM1_chr18_32258522_32475882 | 32364028 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0078 | 1 | 192 | 0.0052 | 23 | c.262 others(42): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
GAREM2_chr2_26168088_26194663 | 26189588 | T | TCTTGCAG others(16): Show |
3_prime_UTR_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0001 | 1 | 306 | 0.0033 | 23 | c.*13 others(34): Show |
GAREM2 | ENSG00000157833.13 | transcript | ENST00000401533.7 | protein_coding | 6/6 | 1355 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
GARNL3_chr9_127259774_127398660 | 127331720 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 300 | 0.0033 | 23 | c.595 others(38): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAS6_chr13_113815549_113869076 | 113817452 | A | ACACATCC others(16): Show |
downstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0028 | 1 | 143 | 0.0070 | 23 | c.*34 others(34): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3096 | chr13 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113817506 | C | CCCCCCTC others(16): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 143 | 0.0070 | 23 | c.*33 others(34): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3042 | chr13 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 10046832 | G | GAAAGAAA others(16): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03579.hp2 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0019 | a0001c0003t0004g0034a0001c0003t0019g0158 | 2 | 218 | 0.0092 | 23 | c.184 others(42): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 10046855 | A | AAAGAAAG others(16): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0095 | 1 | 218 | 0.0046 | 23 | c.184 others(42): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 10046867 | A | AAAGAAAG others(16): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 218 | 0.0046 | 23 | c.184 others(42): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 10159063 | A | ACATATAT others(16): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01346.hp2 HG02027.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0062a0001c0001t0001g0192a0001c0001t0002g0113others(7): Show | 10 | 218 | 0.0459 | 23 | c.183 others(42): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90047931 | G | GGGGGCGG others(16): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0183 | 1 | 390 | 0.0026 | 23 | c.*45 others(34): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 2972 | chr16 | TogoVar | ||||||
GASK1A_chr3_42974311_43062715 | 43012429 | T | TAAGCCAC others(16): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0015 | a0015c0026 | a0015c0026t0011 | a0015c0026t0011g0311 | 1 | 342 | 0.0029 | 23 | c.4-1 others(38): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GASK1A_chr3_42974311_43062715 | 43017163 | A | AGTCACAG others(16): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18941.hp1 NA18955.hp2 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0002a0004c0004t0006g0024a0004c0004t0006g0274others(2): Show | 8 | 342 | 0.0234 | 23 | c.4-1 others(38): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GASK1B_chr4_158119474_158178025 | 158149923 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0015 | a0001c0002t0004g0049a0001c0002t0015g0187 | 2 | 292 | 0.0069 | 23 | c.112 others(42): Show |
GASK1B | ENSG00000164125.16 | transcript | ENST00000585682.6 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62471432 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG02630.hp1 others(1): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0010 | a0001c0002t0002a0001c0003t0001a0004c0010t0001 | a0001c0002t0002g0198a0001c0003t0001g0265a0004c0010t0001g0018 | 4 | 382 | 0.0105 | 23 | c.699 others(40): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 3/6 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62476877 | T | TTTCTTTC others(16): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0147 | 1 | 382 | 0.0026 | 23 | c.-97 others(32): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 883 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62476946 | T | TTTCTTTC others(16): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 382 | 0.0026 | 23 | c.-10 others(34): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 952 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCCT others(16): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0090 | 1 | 382 | 0.0026 | 23 | c.-13 others(34): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(16): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0036 | 1 | 382 | 0.0026 | 23 | c.-13 others(34): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | ||||||
GATAD2A_chr19_19400675_19513932 | 19440911 | C | CCTTCCTT others(16): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107 | 1 | 298 | 0.0034 | 23 | c.-6- others(40): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GATAD2A_chr19_19400675_19513932 | 19472545 | G | GCAGAGGA others(16): Show |
intron_variant | MODIFIER | HG02165.hp1 HG03225.hp1 HG04199.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0049 | a0001c0001t0013g0004a0001c0001t0013g0005a0001c0001t0013g0006others(3): Show | 6 | 298 | 0.0201 | 23 | c.269 others(40): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GATAD2B_chr1_153799725_153927972 | 153839108 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0174 | 1 | 349 | 0.0029 | 23 | c.-1- others(40): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GBF1_chr10_102240532_102387896 | 102241614 | C | CTGGGGCT others(16): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0315 | 1 | 330 | 0.0030 | 23 | c.-41 others(34): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 3917 | chr10 | TogoVar | ||||||
GBF1_chr10_102240532_102387896 | 102293764 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01258.hp1 NA18982.hp1 NA18986.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0160a0001c0001t0001g0198a0002c0002t0001g0199 | 3 | 330 | 0.0091 | 23 | c.163 others(42): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GBP1_chr1_89047319_89070208 | 89063592 | G | GGCTGTAT others(16): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0143 | 1 | 430 | 0.0023 | 23 | c.-19 others(38): Show |
GBP1 | ENSG00000117228.11 | transcript | ENST00000370473.5 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GBP3_chr1_89001680_89027866 | 89027767 | T | TGGCATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 HG03516.hp1 NA19043.hp1 |
a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0072a0003c0008t0002g0115a0003c0008t0002g0162 | 3 | 436 | 0.0069 | 23 | c.-51 others(34): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 4902 | chr1 | TogoVar |