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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GATA5_chr20_62458497_62480995 | 62477098 | C | CTTCTTTC others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01257.hp1 HG01258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0004t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0002g0008a0001c0004t0003g0092others(1): Show | 5 | 382 | 0.0131 | 8 | c.-11 others(19): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1104 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477138 | T | TTTCTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01978.hp1 HG02165.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0002a0001c0007t0008a0001c0007t0010 | a0001c0003t0002g0075a0001c0007t0008g0152a0001c0007t0010g0142 | 3 | 382 | 0.0079 | 8 | c.-12 others(19): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1144 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477138 | T | TTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG01978.hp2 NA19091.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0009a0001c0003t0002 | a0001c0002t0009g0013a0001c0002t0009g0128a0001c0003t0002g0011 | 3 | 382 | 0.0079 | 8 | c.-12 others(19): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1144 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477221 | T | TCTTCCTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01993.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005others(2): Show | a0001c0001t0001a0001c0003t0003a0002c0005t0001others(5): Show | a0001c0001t0001g0004a0001c0003t0003g0199a0002c0005t0001g0035others(6): Show | 9 | 382 | 0.0236 | 8 | c.-13 others(19): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1227 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477245 | C | CCTTTCTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG02004.hp1 HG02074.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0036a0001c0003t0001 | a0001c0002t0001g0126a0001c0002t0036g0104a0001c0003t0001g0067 | 3 | 382 | 0.0079 | 8 | c.-13 others(19): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1251 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477301 | T | TCCTCCCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01346.hp2 HG02109.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(1): Show | a0001c0001t0001g0014a0001c0001t0004g0002a0001c0003t0001g0266others(1): Show | 4 | 382 | 0.0105 | 8 | c.-13 others(19): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1307 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCCTCCCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG01106.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0005g0005others(11): Show | 14 | 382 | 0.0367 | 8 | c.-13 others(19): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | ||||||
GATA6_chr18_22164589_22207528 | 22204076 | T | TTCTCTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0006t0002others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0147a0001c0001t0002g0003others(24): Show | 27 | 286 | 0.0944 | 8 | c.*32 others(19): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 1549 | chr18 | TogoVar | ||||||
GATA6_chr18_22164589_22207528 | 22204288 | C | CTCTTTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 HG02976.hp2 HG06807.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0003c0003t0002 | a0001c0001t0005g0134a0001c0001t0005g0135a0003c0003t0002g0067 | 3 | 286 | 0.0105 | 8 | c.*34 others(19): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 1761 | chr18 | TogoVar | ||||||
GATAD2A_chr19_19400675_19513932 | 19429379 | T | TGGGTCTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01361.hp2 HG02647.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0155a0001c0001t0004g0156a0001c0001t0004g0157others(6): Show | 9 | 298 | 0.0302 | 8 | c.-7+ others(25): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GATAD2A_chr19_19400675_19513932 | 19430976 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(4): Show | a0001c0001t0002g0185a0001c0001t0002g0192a0001c0001t0005g0012others(5): Show | 8 | 298 | 0.0269 | 8 | c.-7+ others(25): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GATAD2A_chr19_19400675_19513932 | 19469431 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00741.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0004g0125a0001c0001t0004g0126a0001c0001t0004g0127others(54): Show | 57 | 298 | 0.1913 | 8 | c.269 others(25): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GATAD2A_chr19_19400675_19513932 | 19503644 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02145.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0002g0038a0001c0001t0005g0025a0001c0001t0005g0026others(13): Show | 16 | 298 | 0.0537 | 8 | c.177 others(27): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GATAD2A_chr19_19400675_19513932 | 19510409 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00741.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0009a0001c0001t0002g0038a0001c0001t0002g0041others(21): Show | 24 | 298 | 0.0805 | 8 | c.*49 others(19): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 1478 | chr19 | TogoVar | ||||||
GATAD2B_chr1_153799725_153927972 | 153815081 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006 | a0001c0001t0003g0091a0001c0001t0003g0098a0001c0001t0003g0142others(3): Show | 6 | 349 | 0.0172 | 8 | c.121 others(27): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
GATAD2B_chr1_153799725_153927972 | 153816059 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02129.hp1 HG02132.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0269a0001c0001t0001g0282a0001c0001t0001g0291others(11): Show | 14 | 349 | 0.0401 | 8 | c.121 others(25): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
GATAD2B_chr1_153799725_153927972 | 153828455 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02293.hp2 HG03688.hp1 NA18977.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0305a0001c0001t0004g0046a0001c0001t0004g0057others(4): Show | 7 | 349 | 0.0201 | 8 | c.-1- others(21): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GATAD2B_chr1_153799725_153927972 | 153876227 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00621.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0231a0001c0001t0001g0235a0001c0001t0001g0238others(29): Show | 32 | 349 | 0.0917 | 8 | c.-2+ others(25): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GATAD2B_chr1_153799725_153927972 | 153901824 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG00733.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0247others(13): Show | 16 | 349 | 0.0459 | 8 | c.-2+ others(25): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GATAD2B_chr1_153799725_153927972 | 153904279 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03041.hp2 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(1): Show | a0001c0001t0001g0043a0001c0001t0005g0015a0001c0001t0005g0127others(3): Show | 6 | 349 | 0.0172 | 8 | c.-2+ others(25): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GATB_chr4_151665504_151766007 | 151686652 | G | GCCCCGCC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(48): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0058others(48): Show | 51 | 320 | 0.1594 | 8 | c.133 others(27): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 10/12 | chr4 | TogoVar | ||||||
GATB_chr4_151665504_151766007 | 151697953 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02074.hp2 HG02129.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0141a0001c0001t0001g0267a0001c0001t0002g0199others(7): Show | 11 | 320 | 0.0344 | 8 | c.119 others(27): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 9/12 | chr4 | TogoVar | ||||||
GATB_chr4_151665504_151766007 | 151697953 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02572.hp2 HG02630.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0294a0001c0001t0002g0256a0001c0001t0002g0275others(5): Show | 10 | 320 | 0.0313 | 8 | c.119 others(27): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 9/12 | chr4 | TogoVar | ||||||
GATB_chr4_151665504_151766007 | 151765852 | C | CAGAGAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00597.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0067a0001c0001t0001g0069a0001c0001t0001g0075others(20): Show | 23 | 320 | 0.0719 | 8 | c.-48 others(19): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 4846 | chr4 | TogoVar | ||||||
GATM_chr15_45356124_45383544 | 45364486 | G | GACTGCAC others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp2 others(57): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0003g0004a0001c0001t0003g0009a0001c0001t0003g0010others(18): Show | 60 | 296 | 0.2027 | 8 | c.104 others(25): Show |
GATM | ENSG00000171766.17 | transcript | ENST00000396659.8 | protein_coding | 7/8 | chr15 | TogoVar | ||||||
GBA2_chr9_35731866_35754228 | 35732107 | G | GCCCGCCG others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01975.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0003 | a0001c0001t0002a0001c0009t0001a0002c0003t0001 | a0001c0001t0002g0001a0001c0009t0001g0052a0002c0003t0001g0008 | 4 | 420 | 0.0095 | 8 | c.*50 others(19): Show |
GBA2 | ENSG00000070610.14 | transcript | ENST00000378103.7 | protein_coding | 4758 | chr9 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81492677 | A | ATTCTCCC others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(65): Show |
a0001a0002a0013 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(7): Show | a0001c0001t0002g0131a0001c0001t0002g0132a0001c0001t0002g0134others(65): Show | 68 | 304 | 0.2237 | 8 | c.205 others(27): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 15/15 | chr3 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81492701 | T | TTTCTCCC others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00639.hp1 others(41): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0004t0001others(5): Show | a0001c0001t0002g0197a0001c0001t0002g0203a0001c0001t0002g0205others(41): Show | 44 | 304 | 0.1447 | 8 | c.205 others(27): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 15/15 | chr3 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81628742 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(4): Show | a0001c0001t0002g0139a0001c0001t0002g0202a0001c0001t0002g0203others(28): Show | 31 | 304 | 0.1020 | 8 | c.992 others(27): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81710232 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(44): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0006c0014others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0202a0001c0001t0002g0203a0001c0001t0002g0214others(44): Show | 47 | 304 | 0.1546 | 8 | c.144 others(25): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81717955 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02257.hp2 HG02280.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0002 | a0001c0001t0005g0278a0002c0002t0002g0128a0002c0002t0002g0129others(1): Show | 4 | 304 | 0.0132 | 8 | c.144 others(27): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81722894 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01069.hp1 HG01081.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(4): Show | a0001c0001t0002g0197a0001c0001t0002g0206a0001c0001t0002g0216others(13): Show | 16 | 304 | 0.0526 | 8 | c.144 others(27): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81722915 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016 | a0001c0001t0010g0257a0001c0001t0010g0258a0001c0001t0016g0259 | 3 | 304 | 0.0099 | 8 | c.144 others(27): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81740766 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0197a0001c0001t0002g0203a0001c0001t0002g0205others(53): Show | 56 | 304 | 0.1842 | 8 | c.143 others(27): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81750589 | G | GTATATGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG01256.hp1 others(2): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0004 | a0002c0002t0001g0049a0002c0002t0001g0051a0002c0002t0001g0055others(2): Show | 5 | 304 | 0.0165 | 8 | c.143 others(27): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GBF1_chr10_102240532_102387896 | 102293764 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01516.hp2 HG01928.hp2 others(15): Show |
a0001a0003a0011 | a0001c0001a0001c0003a0003c0005others(1): Show | a0001c0001t0002a0001c0003t0001a0003c0005t0002others(1): Show | a0001c0001t0002g0035a0001c0001t0002g0039a0001c0001t0002g0042others(15): Show | 18 | 330 | 0.0546 | 8 | c.163 others(27): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GBF1_chr10_102240532_102387896 | 102305175 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG03471.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0021 | a0001c0001t0001a0001c0004t0004a0001c0021t0004 | a0001c0001t0001g0155a0001c0001t0001g0214a0001c0004t0004g0004others(3): Show | 6 | 330 | 0.0182 | 8 | c.164 others(27): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GBF1_chr10_102240532_102387896 | 102337295 | G | GCGAACCC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(325): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(324): Show | 328 | 330 | 0.9939 | 8 | c.164 others(25): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GBP1_chr1_89047319_89070208 | 89066316 | C | CTTTTTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(70): Show |
a0002a0003a0010 | a0002c0002a0003c0003a0010c0017 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(9): Show | a0002c0002t0001g0077a0002c0002t0001g0090a0002c0002t0001g0105others(41): Show | 73 | 430 | 0.1698 | 8 | c.-11 others(19): Show |
GBP1 | ENSG00000117228.11 | transcript | ENST00000370473.5 | protein_coding | 1109 | chr1 | TogoVar | ||||||
GBP2_chr1_89101132_89131114 | 89126750 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG01081.hp1 others(15): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0005 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0002g0001others(5): Show | 18 | 414 | 0.0435 | 8 | c.-91 others(17): Show |
GBP2 | ENSG00000162645.13 | transcript | ENST00000370466.4 | protein_coding | 637 | chr1 | TogoVar | ||||||
GBP2_chr1_89101132_89131114 | 89128955 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02615.hp1 HG02895.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0008 | 7 | 414 | 0.0169 | 8 | c.-31 others(19): Show |
GBP2 | ENSG00000162645.13 | transcript | ENST00000370466.4 | protein_coding | 2842 | chr1 | TogoVar | ||||||
GBP3_chr1_89001680_89027866 | 89021510 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01099.hp1 HG01496.hp1 others(6): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0009 | a0001c0001t0002a0001c0001t0007a0003c0003t0001others(1): Show | a0001c0001t0002g0323a0001c0001t0002g0324a0001c0001t0002g0328others(5): Show | 9 | 436 | 0.0206 | 8 | c.-22 others(23): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GBP3_chr1_89001680_89027866 | 89021510 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG04228.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0002a0001c0001t0004a0006c0007t0004 | a0001c0001t0002g0321a0001c0001t0004g0054a0006c0007t0004g0299 | 4 | 436 | 0.0092 | 8 | c.-22 others(23): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GBP3_chr1_89001680_89027866 | 89021510 | G | GCGCGCAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00735.hp1 others(20): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0010c0010others(1): Show | a0001c0001t0001a0002c0002t0003a0002c0002t0009others(2): Show | a0001c0001t0001g0165a0001c0001t0001g0219a0001c0001t0001g0223others(17): Show | 23 | 436 | 0.0528 | 8 | c.-22 others(23): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GBP3_chr1_89001680_89027866 | 89021510 | G | GCGCGCGC others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01071.hp2 others(11): Show |
a0002a0018 | a0002c0002a0018c0020 | a0002c0002t0003a0002c0002t0006a0018c0020t0003 | a0002c0002t0003g0163a0002c0002t0003g0195a0002c0002t0003g0200others(7): Show | 14 | 436 | 0.0321 | 8 | c.-22 others(23): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GBP3_chr1_89001680_89027866 | 89021544 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(8): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0029a0003c0003t0001g0030a0003c0003t0001g0032others(5): Show | 11 | 436 | 0.0252 | 8 | c.-22 others(23): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GBP3_chr1_89001680_89027866 | 89021788 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0288a0001c0001t0002g0287others(31): Show | 42 | 436 | 0.0963 | 8 | c.-23 others(23): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
GBP4_chr1_89176144_89203942 | 89193451 | C | CTTCATTC others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01256.hp2 HG01258.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0010a0001c0005t0019 | a0001c0005t0010g0013a0001c0005t0019g0029 | 6 | 402 | 0.0149 | 8 | c.364 others(21): Show |
GBP4 | ENSG00000162654.9 | transcript | ENST00000355754.7 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
GBP7_chr1_89126742_89181003 | 89126750 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG01884.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0002 | a0001c0001t0001g0006a0001c0001t0001g0040a0001c0001t0001g0104others(9): Show | 16 | 376 | 0.0426 | 8 | c.*53 others(19): Show |
GBP7 | ENSG00000213512.3 | transcript | ENST00000294671.3 | protein_coding | 4991 | chr1 | TogoVar | ||||||
GBP7_chr1_89126742_89181003 | 89128955 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02615.hp2 HG02895.hp1 others(4): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0003a0006c0008t0003 | a0001c0001t0003g0025a0001c0001t0003g0062a0001c0001t0003g0065others(2): Show | 7 | 376 | 0.0186 | 8 | c.*31 others(19): Show |
GBP7 | ENSG00000213512.3 | transcript | ENST00000294671.3 | protein_coding | 2786 | chr1 | TogoVar |