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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AVL9_chr7_32490489_32593726 | 32497637 | A | ATGTTGAC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(118): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(43): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 others(118): Show |
121 | 328 | 0.3689 | 7 | c.93+ others(22): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32546083 | T | TTTTTTTA | intron_variant | MODIFIER | HG01256.hp1 HG02486.hp2 HG02615.hp2 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(6): Show | a0001c0001t0001g0184 a0001c0001t0003g0023 a0001c0001t0003g0220 others(12): Show |
15 | 249 | 0.0602 | 7 | c.300 others(24): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32557857 | T | TTTGTTTG | intron_variant | MODIFIER | HG00733.hp1 HG02486.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0046a0001c0007t0014 | a0001c0001t0001g0197 a0001c0001t0001g0205 a0001c0001t0046g0189 others(5): Show |
8 | 328 | 0.0244 | 7 | c.610 others(22): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32557861 | T | TTTGTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(186): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(75): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 others(186): Show |
189 | 320 | 0.5906 | 7 | c.610 others(22): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179401258 | C | CAAAAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01496.hp1 HG01934.hp2 others(7): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0296 a0004c0005t0001g0297 a0004c0005t0001g0298 others(7): Show |
10 | 120 | 0.0833 | 7 | c.110 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179437676 | A | AGACAGAG | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00733.hp2 others(64): Show |
a0003a0006a0007others(7): Show | a0003c0004a0006c0009a0007c0010others(7): Show | a0003c0004t0001a0006c0009t0001a0007c0010t0001others(7): Show | a0003c0004t0001g0005 a0003c0004t0001g0007 a0003c0004t0001g0012 others(64): Show |
67 | 354 | 0.1893 | 7 | c.156 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179448109 | T | TTTTTTTA | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00733.hp2 others(79): Show |
a0001a0002a0003others(10): Show | a0001c0007a0002c0023a0003c0004others(10): Show | a0001c0007t0001a0002c0023t0001a0003c0004t0001others(10): Show | a0001c0007t0001g0080 a0001c0007t0001g0182 a0001c0007t0001g0185 others(79): Show |
82 | 354 | 0.2316 | 7 | c.179 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179460020 | C | CCTTCCTT | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp2 others(12): Show |
a0003a0008a0009others(1): Show | a0003c0004a0008c0012a0009c0013others(1): Show | a0003c0004t0001a0008c0012t0001a0009c0013t0001others(1): Show | a0003c0004t0001g0173 a0003c0004t0001g0176 a0003c0004t0001g0177 others(12): Show |
15 | 258 | 0.0581 | 7 | c.179 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 320741 | A | ATTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0087 others(3): Show |
6 | 261 | 0.0230 | 7 | c.879 others(24): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 351132 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp1 others(51): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(18): Show | a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 others(51): Show |
54 | 312 | 0.1731 | 7 | c.-82 others(24): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01496.hp1 HG01891.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0009a0001c0001t0012a0001c0002t0009others(1): Show | a0001c0001t0009g0030 a0001c0001t0009g0070 a0001c0001t0009g0138 others(16): Show |
20 | 67 | 0.2985 | 7 | c.*41 others(16): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AZGP1_chr7_99961730_99981031 | 99968962 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp2 HG01168.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(15): Show |
43 | 60 | 0.7167 | 7 | c.338 others(22): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
AZIN2_chr1_33076153_33128492 | 33108342 | C | CTTTTTTT | intron_variant | MODIFIER | HG00673.hp2 NA18946.hp2 NA18948.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0096 others(5): Show |
13 | 199 | 0.0653 | 7 | c.103 others(26): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167579432 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0079 others(34): Show |
37 | 59 | 0.6271 | 7 | c.-40 others(28): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167769605 | G | GTCTCTGT | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG00738.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0046 a0001c0001t0001g0078 others(16): Show |
19 | 116 | 0.1638 | 7 | c.-35 others(28): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT2_chr1_193173730_193191613 | 193177358 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG00741.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0014 others(9): Show |
35 | 164 | 0.2134 | 7 | c.*29 others(18): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 1371 | chr1 | TogoVar | |||||||
B3GALT2_chr1_193173730_193191613 | 193187102 | T | TCCCCCCC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00609.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(5): Show |
42 | 175 | 0.2400 | 7 | c.-12 others(18): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 490 | chr1 | TogoVar | |||||||
B3GALT5_chr21_39607940_39678137 | 39613082 | T | TGGGGCGC | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG01106.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(19): Show | a0001c0001t0002g0011 a0001c0001t0002g0289 a0001c0001t0002g0290 others(25): Show |
29 | 330 | 0.0879 | 7 | c.-39 others(22): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134412108 | G | GGGGAGGT | 5_prime_UTR_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01074.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0011a0001c0001t0014others(7): Show | a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0050 others(24): Show |
29 | 102 | 0.2843 | 7 | c.-58 others(16): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/6 | 24450 | chr11 | TogoVar | ||||||
B3GAT3_chr11_62610296_62626986 | 62619699 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00642.hp2 others(52): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(16): Show |
55 | 80 | 0.6875 | 7 | c.257 others(22): Show |
B3GAT3 | ENSG00000149541.10 | transcript | ENST00000265471.10 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17791966 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00642.hp2 others(85): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0017 others(70): Show |
88 | 262 | 0.3359 | 7 | c.-32 others(18): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3171 | chr19 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17792577 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01175.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0010a0001c0001t0013others(3): Show | a0001c0001t0003g0261 a0001c0001t0010g0045 a0001c0001t0013g0147 others(6): Show |
10 | 322 | 0.0311 | 7 | c.-26 others(18): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2560 | chr19 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17804533 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(90): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0190 a0001c0001t0002g0015 a0001c0001t0002g0016 others(72): Show |
93 | 94 | 0.9894 | 7 | c.-50 others(24): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17817795 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01070.hp1 others(35): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0211 others(31): Show |
38 | 96 | 0.3958 | 7 | c.*56 others(18): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 4220 | chr19 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83002922 | C | CTCCGCAG | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG00741.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(17): Show | a0001c0001t0004g0229 a0001c0001t0006g0154 a0001c0001t0006g0160 others(31): Show |
34 | 264 | 0.1288 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83002997 | C | CACTCTCT | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG00741.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(17): Show | a0001c0001t0004g0229 a0001c0001t0006g0154 a0001c0001t0006g0160 others(30): Show |
33 | 266 | 0.1241 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003033 | C | CACTCTCT | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG02080.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0027others(4): Show | a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0019g0182 others(5): Show |
8 | 266 | 0.0301 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003110 | C | CCCACTCT | intron_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0017a0001c0011t0001others(1): Show | a0001c0001t0002g0177 a0001c0001t0017g0176 a0001c0011t0001g0145 others(2): Show |
5 | 266 | 0.0188 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003262 | C | CACTCTCT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01361.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0027others(8): Show | a0001c0001t0002g0059 a0001c0001t0002g0179 a0001c0001t0019g0182 others(12): Show |
15 | 266 | 0.0564 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003266 | C | CTCCGCAG | intron_variant | MODIFIER | HG02818.hp2 NA19043.hp1 NA19043.hp2 |
a0001a0002a0003 | a0001c0006a0002c0010a0003c0030 | a0001c0006t0001a0002c0010t0007a0003c0030t0011 | a0001c0006t0001g0018 a0002c0010t0007g0196 a0003c0030t0011g0141 |
3 | 221 | 0.0136 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003341 | C | CACTCTCT | intron_variant | MODIFIER | HG02155.hp1 NA18973.hp1 NA19012.hp2 |
a0001 | a0001c0007a0001c0016 | a0001c0007t0005a0001c0016t0001 | a0001c0007t0005g0232 a0001c0016t0001g0009 a0001c0016t0001g0010 |
3 | 266 | 0.0113 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003463 | C | CACTCTCT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01361.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0002a0001c0001t0032a0001c0002t0002others(5): Show | a0001c0001t0002g0059 a0001c0001t0032g0164 a0001c0002t0002g0087 others(7): Show |
10 | 266 | 0.0376 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003714 | C | CACTCTCT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01243.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0017others(10): Show | a0001c0001t0002g0059 a0001c0001t0002g0177 a0001c0001t0012g0149 others(15): Show |
18 | 266 | 0.0677 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003750 | C | CACTCTCT | intron_variant | MODIFIER | HG02486.hp1 HG03516.hp2 NA19012.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0039a0001c0007t0005 | a0001c0001t0002g0134 a0001c0001t0039g0259 a0001c0007t0005g0232 |
3 | 266 | 0.0113 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003915 | C | CACTCTCT | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp2 HG01516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0006a0001c0007t0005a0001c0008t0005 | a0001c0001t0006g0154 a0001c0001t0006g0160 a0001c0001t0006g0183 others(2): Show |
5 | 266 | 0.0188 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003919 | C | CTCCGCAG | intron_variant | MODIFIER | HG01261.hp2 HG02135.hp2 NA18945.hp2 |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0009a0001c0002t0006a0001c0008t0038 | a0001c0001t0009g0235 a0001c0002t0006g0072 a0001c0008t0038g0217 |
3 | 259 | 0.0116 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003994 | C | CACTCTCT | intron_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0011 | a0001c0001t0002a0001c0001t0017a0001c0004t0031others(2): Show | a0001c0001t0002g0177 a0001c0001t0017g0176 a0001c0004t0031g0036 others(3): Show |
6 | 264 | 0.0227 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004113 | C | CTCCGCAG | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(71): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(67): Show |
74 | 261 | 0.2835 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004188 | C | CACTCTCT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00621.hp1 others(74): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(70): Show |
77 | 266 | 0.2895 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004192 | C | CTCCGCAG | intron_variant | MODIFIER | HG01106.hp2 HG02572.hp1 HG02818.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0030 | a0001c0001t0009a0001c0006t0001a0001c0006t0002others(3): Show | a0001c0001t0009g0234 a0001c0006t0001g0018 a0001c0006t0002g0032 others(3): Show |
6 | 186 | 0.0323 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004265 | C | CCCACTCT | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0017a0001c0011t0001others(2): Show | a0001c0001t0002g0177 a0001c0001t0017g0176 a0001c0011t0001g0145 others(3): Show |
6 | 266 | 0.0226 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004267 | C | CACTCTCT | intron_variant | MODIFIER | HG02004.hp2 HG02572.hp1 HG02818.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0030 | a0001c0001t0001a0001c0001t0009a0001c0006t0001others(3): Show | a0001c0001t0001g0168 a0001c0001t0009g0234 a0001c0006t0001g0018 others(3): Show |
6 | 264 | 0.0227 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004271 | C | CTCTGCAG | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00621.hp1 others(72): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(68): Show |
75 | 249 | 0.3012 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004350 | C | CTCTGCAG | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00621.hp2 others(43): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(26): Show | a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0004g0229 others(41): Show |
46 | 264 | 0.1742 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004425 | C | CACTCTCT | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00735.hp2 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(23): Show | a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0004g0229 others(38): Show |
43 | 196 | 0.2194 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004508 | C | CTCTGCGG | intron_variant | MODIFIER | HG00609.hp1 HG01106.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0013 | a0001c0001t0010a0001c0006t0002a0001c0006t0008others(2): Show | a0001c0001t0010g0184 a0001c0006t0002g0032 a0001c0006t0008g0021 others(2): Show |
5 | 156 | 0.0321 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 474947 | C | CAAAAAAA | intron_variant | MODIFIER | HG02080.hp1 HG02109.hp1 HG02559.hp2 others(18): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(16): Show | a0001c0001t0001g0243 a0001c0001t0002g0126 a0001c0001t0008g0244 others(18): Show |
21 | 151 | 0.1391 | 7 | c.169 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(40): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0008 a0001c0001t0001g0069 a0001c0001t0001g0096 others(40): Show |
43 | 63 | 0.6825 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511195 | A | ATTTTTGT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(53): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0069 others(53): Show |
56 | 392 | 0.1429 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511367 | A | ACCTTCCG | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG02109.hp2 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0012a0001c0001t0028a0001c0001t0055others(16): Show | a0001c0001t0012g0260 a0001c0001t0028g0208 a0001c0001t0055g0181 others(16): Show |
19 | 390 | 0.0487 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |