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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7L1_chr7_105599772_105881599 | 105740784 | T | TTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02135.hp1 HG03516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0005a0001c0001t0003g0004a0001c0001t0003g0006others(4): Show | 7 | 252 | 0.0278 | 26 | c.355 others(45): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74536670 | C | CTTTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 408 | 0.0025 | 26 | c.-14 others(37): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | ||||||
AURKAIP1_chr1_1368736_1380207 | 1369803 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 358 | 0.0028 | 26 | c.*39 others(37): Show |
AURKAIP1 | ENSG00000175756.14 | transcript | ENST00000338338.10 | protein_coding | 3932 | chr1 | TogoVar | ||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 428 | 0.0023 | 26 | c.-41 others(37): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | ||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 428 | 0.0047 | 26 | c.-41 others(37): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | ||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 428 | 0.0023 | 26 | c.-41 others(37): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | ||||||
AURKC_chr19_57226023_57240548 | 57239587 | T | TAGAGAGA others(19): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01081.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0017others(2): Show | 24 | 410 | 0.0585 | 26 | c.*41 others(37): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 4040 | chr19 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69870448 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 NA18952.hp1 |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0002a0001c0003t0008a0001c0007t0006 | a0001c0001t0002g0067a0001c0003t0008g0039a0001c0007t0006g0027 | 3 | 76 | 0.0395 | 26 | c.310 others(45): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70004285 | T | TATGTGAA others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG03017.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0009a0001c0001t0028others(2): Show | a0001c0001t0005g0020a0001c0001t0009g0023a0001c0001t0028g0021others(2): Show | 5 | 76 | 0.0658 | 26 | c.522 others(47): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70162445 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0003 | 1 | 76 | 0.0132 | 26 | c.660 others(45): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70245169 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0072 | 1 | 76 | 0.0132 | 26 | c.660 others(47): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70579244 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03453.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0061a0002c0002t0001g0057 | 2 | 76 | 0.0263 | 26 | c.691 others(47): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVEN_chr15_33861227_34044204 | 33899460 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 266 | 0.0038 | 26 | c.446 others(45): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33933524 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 266 | 0.0038 | 26 | c.446 others(45): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32503367 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18952.hp2 NA18963.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0033a0001c0001t0034others(1): Show | a0001c0001t0013g0258a0001c0001t0013g0260a0001c0001t0033g0257others(2): Show | 5 | 330 | 0.0152 | 26 | c.93+ others(41): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVPI1_chr10_97672424_97692241 | 97678880 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02922.hp2 HG03927.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0280a0001c0001t0001g0308a0002c0002t0001g0234others(2): Show | 8 | 446 | 0.0179 | 26 | c.287 others(41): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179486139 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 356 | 0.0028 | 26 | c.209 others(45): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179488634 | C | CTTTTCTT others(19): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0286 | 1 | 356 | 0.0028 | 26 | c.209 others(45): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179488634 | C | CTTTTCTT others(19): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02451.hp2 NA18950.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0213a0001c0003t0001g0272a0001c0003t0001g0278others(2): Show | 5 | 356 | 0.0140 | 26 | c.209 others(45): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | chr1 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 326394 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02258.hp1 HG06807.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0004t0014 | a0001c0003t0003g0047a0001c0004t0014g0081 | 2 | 378 | 0.0053 | 26 | c.879 others(45): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 829936 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0053 | 1 | 391 | 0.0026 | 26 | c.360 others(41): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167303682 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 118 | 0.0085 | 26 | c.-51 others(47): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167512592 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 118 | 0.0085 | 26 | c.-41 others(47): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167521985 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 118 | 0.0085 | 26 | c.-41 others(47): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167779150 | T | TCTTCACC others(19): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00741.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0023others(63): Show | 66 | 118 | 0.5593 | 26 | c.-35 others(47): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639391 | C | CTTCCTTC others(19): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0271 | 1 | 336 | 0.0030 | 26 | c.-39 others(45): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639446 | T | TTCTTTTT others(19): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0071 | a0001c0001t0009g0063a0001c0001t0071g0174 | 2 | 336 | 0.0060 | 26 | c.-39 others(45): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31196186 | A | AATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 1 | 268 | 0.0037 | 26 | c.-38 others(37): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3788 | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 268 | 0.0037 | 26 | c.-38 others(37): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 268 | 0.0037 | 26 | c.-38 others(37): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 NA18978.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0089a0002c0002t0002g0144 | 2 | 268 | 0.0075 | 26 | c.-38 others(37): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31316407 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG01346.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0071a0001c0001t0001g0075a0001c0001t0001g0085others(5): Show | 8 | 268 | 0.0299 | 26 | c.106 others(45): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GNT3_chr19_17790138_17818576 | 17807111 | A | AGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG00597.hp2 HG04115.hp1 NA18947.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0021a0001c0003t0003 | a0001c0001t0003g0099a0001c0001t0003g0133a0001c0001t0021g0205others(2): Show | 5 | 406 | 0.0123 | 26 | c.-50 others(41): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GNT5_chr3_183248253_183278385 | 183269230 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0218a0001c0001t0001g0219a0001c0001t0001g0237others(4): Show | 9 | 390 | 0.0231 | 26 | c.-30 others(43): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
B3GNTL1_chr17_82937149_83056770 | 82940221 | G | GCACACAC others(19): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0240 | 1 | 266 | 0.0038 | 26 | c.*38 others(37): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1927 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82946569 | A | AGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03225.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0009a0001c0006t0011 | a0001c0003t0009g0220a0001c0006t0011g0018 | 2 | 266 | 0.0075 | 26 | c.*24 others(41): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 12/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83025470 | G | GGAGAGTC others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01891.hp1 HG02132.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(1): Show | a0001c0001t0001g0051a0001c0001t0001g0179a0001c0001t0002g0058others(5): Show | 8 | 266 | 0.0301 | 26 | c.297 others(43): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02155.hp1 HG03704.hp2 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0056others(5): Show | a0001c0001t0004g0372a0001c0001t0006g0051a0001c0001t0056g0150others(6): Show | 9 | 394 | 0.0228 | 26 | c.170 others(45): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374688 | G | GAGGGAGG others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0071 | 1 | 184 | 0.0054 | 26 | c.784 others(41): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374842 | G | GAGGGAGG others(19): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 184 | 0.0054 | 26 | c.784 others(41): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374846 | G | GAGGAGGA others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01070.hp2 others(5): Show |
a0001a0002a0005 | a0001c0003a0002c0002a0005c0009 | a0001c0003t0001a0002c0002t0001a0005c0009t0001 | a0001c0003t0001g0105a0002c0002t0001g0141a0002c0002t0001g0143others(5): Show | 8 | 184 | 0.0435 | 26 | c.784 others(41): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374899 | G | GAGGGAGG others(19): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0037 | a0004c0037t0001 | a0004c0037t0001g0024 | 1 | 184 | 0.0054 | 26 | c.784 others(41): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374952 | G | GAGGGAGG others(19): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03516.hp2 |
a0003a0005 | a0003c0006a0005c0009 | a0003c0006t0001a0005c0009t0001 | a0003c0006t0001g0102a0005c0009t0001g0118 | 2 | 184 | 0.0109 | 26 | c.784 others(41): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375001 | G | GAGGGAGG others(19): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 184 | 0.0054 | 26 | c.784 others(41): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375001 | G | GAGGGAGG others(19): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0037 | a0004c0037t0001 | a0004c0037t0001g0024 | 1 | 184 | 0.0054 | 26 | c.784 others(41): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375020 | G | GAGGGAGG others(19): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01952.hp2 HG02148.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0060a0001c0001t0001g0084a0001c0001t0004g0013others(2): Show | 5 | 184 | 0.0272 | 26 | c.784 others(41): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375020 | G | GAGGGAGG others(19): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 184 | 0.0054 | 26 | c.784 others(41): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375215 | A | AGGGAGGG others(19): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 184 | 0.0054 | 26 | c.784 others(41): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33150152 | C | CACACATA others(19): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18962.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0182a0001c0002t0006g0185 | 2 | 366 | 0.0055 | 26 | c.413 others(45): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33157063 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(1): Show | a0001c0001t0002g0012a0001c0001t0002g0273a0001c0001t0002g0274others(5): Show | 9 | 366 | 0.0246 | 26 | c.412 others(43): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar |