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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7L1_chr7_105599772_105881599 | 105692420 | T | TCCCTCCC others(21): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 247 | 0.0040 | 28 | c.356 others(47): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCCTCCC others(21): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01255.hp2 HG02735.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0147 a0001c0001t0002g0017 a0001c0001t0008g0229 others(3): Show |
6 | 137 | 0.0438 | 28 | c.356 others(47): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCCTCCC others(21): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03139.hp2 HG03209.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0223 a0001c0001t0002g0026 a0001c0001t0002g0074 others(4): Show |
7 | 138 | 0.0507 | 28 | c.356 others(47): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCC others(21): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 132 | 0.0076 | 28 | c.356 others(47): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105740784 | T | TTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0201 a0001c0001t0013g0019 |
2 | 92 | 0.0217 | 28 | c.355 others(47): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214581 | G | GAGATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 NA19011.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0080 a0001c0003t0001g0006 |
2 | 372 | 0.0054 | 28 | c.-40 others(39): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4007 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0005 a0002c0002t0001g0014 |
2 | 214 | 0.0093 | 28 | c.-41 others(39): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 NA18998.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 |
3 | 215 | 0.0140 | 28 | c.-41 others(39): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0030 a0001c0003t0001g0068 |
2 | 214 | 0.0093 | 28 | c.-41 others(39): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG03225.hp1 NA18954.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0017 a0001c0003t0001g0006 a0002c0002t0001g0009 others(1): Show |
9 | 221 | 0.0407 | 28 | c.-41 others(39): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57239587 | T | TAGAGAGA others(21): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG02738.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 |
6 | 92 | 0.0652 | 28 | c.*41 others(39): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 4040 | chr19 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69870448 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010 | a0001c0001t0002g0049 a0001c0001t0004g0042 a0001c0001t0004g0056 others(1): Show |
4 | 22 | 0.1818 | 28 | c.310 others(47): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70022164 | G | GATGTTAG others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0010 | a0002c0010t0033 | a0002c0010t0033g0014 | 1 | 76 | 0.0132 | 28 | c.523 others(47): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33899460 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02647.hp1 NA18951.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0030 a0001c0001t0001g0236 a0001c0001t0001g0253 others(1): Show |
4 | 9 | 0.4444 | 28 | c.446 others(47): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32503367 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG02698.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0075a0001c0001t0076 | a0001c0001t0075g0289 a0001c0001t0076g0296 |
2 | 96 | 0.0208 | 28 | c.93+ others(43): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32503373 | T | TAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0312 | 1 | 19 | 0.0526 | 28 | c.93+ others(43): 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(21): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 171 | 0.0058 | 28 | c.287 others(43): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63138059 | C | CTCCCTCC others(21): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0069 | 1 | 215 | 0.0047 | 28 | c.*92 others(39): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4699 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63138059 | C | CTCCCTCC others(21): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0073 | 1 | 215 | 0.0047 | 28 | c.*92 others(39): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4699 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63153334 | C | CTATCTAT others(21): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0016a0002c0003t0021 | a0001c0001t0016g0025 a0002c0003t0021g0063 |
2 | 400 | 0.0050 | 28 | c.-24 others(39): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 2134 | chr12 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 286073 | G | GTCCCTCC others(21): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(88): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(22): Show | a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0283 others(86): Show |
91 | 357 | 0.2549 | 28 | c.*20 others(39): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1366 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 326372 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0075 | 1 | 158 | 0.0063 | 28 | c.879 others(47): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 326394 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 NA20300.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0004t0023 | a0001c0003t0003g0050 a0001c0004t0023g0083 |
2 | 356 | 0.0056 | 28 | c.879 others(47): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235447893 | T | TACTTGGG others(21): Show |
3_prime_UTR_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0201 | 1 | 342 | 0.0029 | 28 | c.*23 others(39): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 12/12 | 2312 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167303682 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 26 | 0.0385 | 28 | c.-51 others(49): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167303682 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 26 | 0.0385 | 28 | c.-51 others(49): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167521985 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0025 | 1 | 113 | 0.0088 | 28 | c.-41 others(49): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639347 | T | TTTCCTTC others(21): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 224 | 0.0045 | 28 | c.-39 others(47): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70855048 | T | TCATATAC others(21): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0266 | 1 | 314 | 0.0032 | 28 | c.*66 others(39): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1630 | chr6 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0010 | 1 | 39 | 0.0256 | 28 | c.-38 others(39): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0189 | 1 | 39 | 0.0256 | 28 | c.-38 others(39): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31213019 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00735.hp2 others(15): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0005g0003 others(14): Show |
18 | 266 | 0.0677 | 28 | c.71- others(43): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31316407 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG00741.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0048 a0001c0001t0001g0088 a0001c0001t0001g0102 others(5): Show |
8 | 65 | 0.1231 | 28 | c.106 others(47): 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(21): Show |
intron_variant | MODIFIER | HG01981.hp1 HG03834.hp1 HG04199.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0019 | a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0209 others(3): Show |
6 | 95 | 0.0632 | 28 | c.-50 others(43): 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(21): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0110 a0002c0002t0003g0121 |
2 | 186 | 0.0108 | 28 | c.-30 others(45): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82946569 | A | AGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01192.hp1 HG01515.hp2 others(3): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0036a0001c0002t0006a0001c0006t0006others(2): Show | a0001c0001t0036g0248 a0001c0002t0006g0108 a0001c0002t0006g0129 others(3): Show |
6 | 80 | 0.0750 | 28 | c.*24 others(43): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 12/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82958818 | G | GGGTGTAT others(21): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0234 a0001c0001t0009g0235 |
2 | 257 | 0.0078 | 28 | c.681 others(45): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003682 | G | GTCCGCGT others(21): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19043.hp2 |
a0001a0003 | a0001c0006a0003c0030 | a0001c0006t0001a0003c0030t0011 | a0001c0006t0001g0018 a0003c0030t0011g0141 |
2 | 179 | 0.0112 | 28 | c.459 others(45): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03139.hp2 NA19074.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0074a0001c0002t0005others(1): Show | a0001c0001t0003g0152 a0001c0001t0074g0306 a0001c0002t0005g0364 others(1): Show |
4 | 24 | 0.1667 | 28 | c.170 others(47): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511482 | T | TCCACCTT others(21): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 |
a0003a0007 | a0003c0004a0007c0008 | a0003c0004t0080a0007c0008t0017 | a0003c0004t0080g0201 a0007c0008t0017g0178 |
2 | 334 | 0.0060 | 28 | c.170 others(47): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374817 | A | AGGAAGGG others(21): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0042 | a0004c0042t0001 | a0004c0042t0001g0031 | 1 | 180 | 0.0056 | 28 | c.784 others(43): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375167 | T | TGGAAGGG others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0174 | 1 | 26 | 0.0385 | 28 | c.784 others(43): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33150144 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp1 others(195): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0171 a0001c0001t0001g0200 a0001c0001t0001g0314 others(188): Show |
198 | 340 | 0.5824 | 28 | c.413 others(47): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33157063 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02027.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0020 | a0001c0001t0002g0264 a0001c0001t0017g0283 a0001c0001t0020g0175 |
3 | 33 | 0.0909 | 28 | c.412 others(45): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28112083 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 78 | 0.0128 | 28 | c.571 others(47): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28112146 | T | TTTCTTTC others(21): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 140 | 0.0071 | 28 | c.571 others(47): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28112151 | C | CTTTCTTT others(21): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 85 | 0.0118 | 28 | c.571 others(47): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28112189 | C | CCCTTCCT others(21): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 125 | 0.0080 | 28 | c.571 others(47): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28112193 | C | CCTTCCCT others(21): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0051 a0001c0001t0003g0019 |
2 | 111 | 0.0180 | 28 | c.571 others(47): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28112197 | C | CCCTCCCT others(21): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 74 | 0.0135 | 28 | c.571 others(47): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |