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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AUTS2_chr7_69593475_70798506 | 69870448 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 19 | 0.0526 | 24 | c.310 others(43): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70340163 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0069 | 1 | 35 | 0.0286 | 24 | c.661 others(43): 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(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0037 a0001c0001t0003g0072 a0001c0001t0005g0028 others(1): Show |
4 | 11 | 0.3636 | 24 | c.691 others(45): 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(17): Show |
intron_variant | MODIFIER | HG00544.hp1 NA19081.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 a0002c0002t0001g0149 |
2 | 7 | 0.2857 | 24 | c.446 others(43): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933524 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0194 | 1 | 188 | 0.0053 | 24 | c.446 others(43): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933524 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081 a0001c0001t0002g0220 |
2 | 189 | 0.0106 | 24 | c.446 others(43): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933524 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 188 | 0.0053 | 24 | c.446 others(43): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVIL_chr12_57792380_57823734 | 57818182 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 22 | 0.0455 | 24 | c.-20 others(39): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32495327 | C | CCCTCCCC others(17): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG03471.hp2 NA21309.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0015a0001c0004t0025a0002c0003t0066 | a0001c0004t0015g0161 a0001c0004t0025g0167 a0002c0003t0066g0173 |
3 | 262 | 0.0115 | 24 | c.-38 others(33): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 161 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32503367 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01496.hp2 HG01952.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0007g0304 a0001c0001t0008g0246 a0001c0001t0008g0263 others(6): Show |
9 | 103 | 0.0874 | 24 | c.93+ others(39): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32524590 | T | TAGATATA others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00733.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0010others(25): Show | a0001c0001t0007g0250 a0001c0001t0007g0254 a0001c0001t0007g0259 others(58): Show |
61 | 328 | 0.1860 | 24 | c.94- others(41): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678880 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0063 | 1 | 171 | 0.0058 | 24 | c.287 others(39): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63138059 | C | CTCCCTCC others(17): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0024 | 1 | 215 | 0.0047 | 24 | c.*92 others(35): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4699 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63153326 | C | CTATCTAT others(17): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0127 | 1 | 446 | 0.0022 | 24 | c.-24 others(35): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 2126 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63153330 | C | CTATCTAT others(17): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 404 | 0.0025 | 24 | c.-24 others(35): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 2130 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63153334 | C | CTATCTAT others(17): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01358.hp2 HG02109.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0001c0001t0016a0002c0003t0009others(4): Show | a0001c0001t0010g0014 a0001c0001t0016g0025 a0002c0003t0009g0024 others(4): Show |
14 | 412 | 0.0340 | 24 | c.-24 others(35): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 2134 | chr12 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179375557 | C | CACATATA others(17): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0183 | 1 | 354 | 0.0028 | 24 | c.375 others(41): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179471757 | G | GTTTACTC others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp2 others(21): Show |
a0003a0006a0008others(4): Show | a0003c0004a0006c0009a0008c0012others(4): Show | a0003c0004t0001a0006c0009t0001a0008c0012t0001others(4): Show | a0003c0004t0001g0173 a0003c0004t0001g0176 a0003c0004t0001g0177 others(21): Show |
24 | 304 | 0.0789 | 24 | c.199 others(43): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179486139 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 | 1 | 130 | 0.0077 | 24 | c.209 others(43): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179488632 | C | CTTTTCTT others(17): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0213 | 1 | 277 | 0.0036 | 24 | c.209 others(43): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 285909 | C | CCCAACCC others(17): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02886.hp1 HG03579.hp1 |
a0001a0007 | a0001c0004a0001c0009a0007c0025 | a0001c0004t0023a0001c0009t0014a0007c0025t0033 | a0001c0004t0023g0083 a0001c0009t0014g0055 a0007c0025t0033g0064 |
3 | 362 | 0.0083 | 24 | c.*22 others(35): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1530 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285966 | T | TCCCAACC others(17): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG03516.hp1 |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0022 | a0001c0003t0012g0222 a0001c0003t0022g0218 |
2 | 357 | 0.0056 | 24 | c.*21 others(35): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1473 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 286023 | T | TCCCAACC others(17): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 367 | 0.0027 | 24 | c.*20 others(35): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1416 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 326394 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0045 | a0001c0003t0003g0047 a0001c0003t0045g0051 |
2 | 356 | 0.0056 | 24 | c.879 others(43): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102863386 | G | GGGGCTGC others(17): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 378 | 0.0026 | 24 | c.-23 others(41): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 836282 | C | CAACGGAG others(17): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 390 | 0.0026 | 24 | c.*44 others(35): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4265 | chr19 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167521985 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0116 | 1 | 113 | 0.0088 | 24 | c.-41 others(45): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167547700 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0004 | 1 | 116 | 0.0086 | 24 | c.-41 others(45): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639347 | T | TTTCTTTC others(17): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0308 | 1 | 224 | 0.0045 | 24 | c.-39 others(43): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0167 | 1 | 175 | 0.0057 | 24 | c.-39 others(43): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70855050 | T | TCATATAC others(17): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG01255.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0161 a0001c0001t0002g0073 a0001c0001t0002g0151 others(20): Show |
23 | 61 | 0.3770 | 24 | c.*65 others(35): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1628 | chr6 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70902637 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0298 | 1 | 275 | 0.0036 | 24 | c.592 others(41): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196186 | A | AATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0032 | 1 | 113 | 0.0088 | 24 | c.-38 others(35): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3788 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0089 | 1 | 39 | 0.0256 | 24 | c.-38 others(35): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 39 | 0.0256 | 24 | c.-38 others(35): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0192 a0002c0002t0002g0193 |
2 | 40 | 0.0500 | 24 | c.-38 others(35): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0092 | 1 | 39 | 0.0256 | 24 | c.-38 others(35): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0101 | 1 | 39 | 0.0256 | 24 | c.-38 others(35): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0130 | 1 | 39 | 0.0256 | 24 | c.-38 others(35): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0100 | 1 | 39 | 0.0256 | 24 | c.-38 others(35): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31316407 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01074.hp1 HG02074.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(2): Show | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 others(9): Show |
12 | 69 | 0.1739 | 24 | c.106 others(43): 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(17): Show |
intron_variant | MODIFIER | HG01123.hp2 HG03669.hp1 HG03831.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0005a0003c0004t0011 | a0001c0001t0003g0144 a0001c0001t0005g0246 a0001c0001t0005g0280 others(1): Show |
4 | 93 | 0.0430 | 24 | c.-50 others(39): 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(17): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03453.hp2 HG03834.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0117 a0001c0001t0001g0172 others(1): Show |
5 | 189 | 0.0265 | 24 | c.-30 others(41): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
B3GNT6_chr11_77029398_77046973 | 77032668 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0004 | 1 | 400 | 0.0025 | 24 | c.-18 others(35): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1729 | chr11 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82940221 | G | GCACACAC others(17): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0247 | 1 | 62 | 0.0161 | 24 | c.*38 others(35): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1927 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82946569 | A | AGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03130.hp2 NA18951.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0011a0001c0002t0002a0001c0003t0004 | a0001c0001t0011g0068 a0001c0002t0002g0131 a0001c0003t0004g0187 |
3 | 77 | 0.0390 | 24 | c.*24 others(39): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 12/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82958866 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0030 | a0003c0030t0011 | a0003c0030t0011g0141 | 1 | 265 | 0.0038 | 24 | c.681 others(41): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82970514 | T | TCCTCCGC others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 159 | 0.0063 | 24 | c.460 others(41): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82970514 | T | TCCTCCGC others(17): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG01243.hp1 others(16): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0185 a0001c0001t0004g0250 a0001c0001t0004g0256 others(16): Show |
19 | 177 | 0.1073 | 24 | c.460 others(41): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82970520 | C | CCACCCAG others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01074.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0016others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0032others(7): Show | a0001c0001t0002g0059 a0001c0001t0006g0165 a0001c0001t0032g0164 others(21): Show |
25 | 220 | 0.1136 | 24 | c.460 others(41): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar |