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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRINP3_chr1_190092658_190482864 | 190453203 | ATTTTTT | A | intron_variant | MODIFIER | HG01099.hp1 HG02027.hp1 HG02083.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0001g0149 others(7): Show |
10 | 240 | 0.0417 | -6 | c.236 others(23): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190459135 | CAAAAAA | C | intron_variant | MODIFIER | HG01099.hp1 HG02280.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 others(3): Show |
6 | 240 | 0.0250 | -6 | c.-50 others(23): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61687430 | TGACCTA | T | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0050a0001c0001t0051others(2): Show | a0001c0001t0015g0151 a0001c0001t0015g0251 a0001c0001t0015g0255 others(5): Show |
8 | 266 | 0.0301 | -6 | c.257 others(25): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61697336 | CAAAAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG00642.hp2 others(54): Show |
a0001a0005a0007others(3): Show | a0001c0001a0005c0008a0007c0014others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(14): Show | a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0054 others(54): Show |
57 | 266 | 0.2143 | -6 | c.249 others(25): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 17/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61772157 | TTATATA | T | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01106.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0002g0094 a0001c0001t0004g0177 a0001c0001t0004g0191 others(16): Show |
19 | 266 | 0.0714 | -6 | c.209 others(25): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61772204 | TATATAA | T | intron_variant | MODIFIER | HG02280.hp1 HG02738.hp1 HG06807.hp2 |
a0002 | a0002c0003 | a0002c0003t0022a0002c0003t0039 | a0002c0003t0022g0242 a0002c0003t0022g0243 a0002c0003t0039g0030 |
3 | 266 | 0.0113 | -6 | c.209 others(25): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61777840 | ATAAACT | A | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0017a0001c0005t0031 | a0001c0001t0017g0142 a0001c0001t0017g0144 a0001c0001t0017g0145 others(1): Show |
4 | 266 | 0.0150 | -6 | c.193 others(25): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 13/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61804954 | CTGTGTG | C | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG01081.hp1 others(48): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0007 a0001c0001t0002g0003 a0001c0001t0002g0062 others(48): Show |
51 | 266 | 0.1917 | -6 | c.919 others(23): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 7/19 | chr17 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10111826 | CAAAAAT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00735.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0049 others(46): Show |
64 | 356 | 0.1798 | -6 | c.-38 others(17): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 3848 | chr3 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35821830 | ATTAAAC | A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02559.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0087 others(12): Show |
21 | 374 | 0.0562 | -6 | c.-46 others(17): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 4507 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35825599 | AGAGGGC | A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG01255.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0021 others(26): Show |
36 | 374 | 0.0963 | -6 | c.-91 others(15): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 738 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | GTATATA | G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02647.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0119 a0001c0001t0001g0127 |
3 | 374 | 0.0080 | -6 | c.*27 others(17): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRSK1_chr19_55278997_55317562 | 55282337 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00609.hp2 others(50): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0022others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(48): Show |
53 | 338 | 0.1568 | -6 | c.-21 others(17): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 1659 | chr19 | TogoVar | |||||||
BRSK1_chr19_55278997_55317562 | 55307747 | TACACAC | T | intron_variant | MODIFIER | HG00558.hp1 HG01261.hp1 HG02040.hp1 others(6): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0020 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0108 a0001c0001t0001g0166 others(6): Show |
9 | 338 | 0.0266 | -6 | c.209 others(23): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1408776 | TGTTTGG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(124): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0058 others(123): Show |
127 | 360 | 0.3528 | -6 | c.91+ others(23): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39185295 | TAAAAAA | T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01258.hp1 HG01884.hp2 others(13): Show |
a0001a0004a0010 | a0001c0001a0004c0003a0010c0025 | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(5): Show | a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 others(13): Show |
16 | 338 | 0.0473 | -6 | c.*10 others(19): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 186 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39244921 | AATATAT | A | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01071.hp1 others(35): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0005 | a0001c0001t0018a0003c0004t0005a0003c0004t0010others(6): Show | a0001c0001t0018g0044 a0001c0001t0018g0052 a0003c0004t0005g0091 others(35): Show |
38 | 338 | 0.1124 | -6 | c.248 others(25): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39248641 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(81): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0026a0002c0002others(7): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0013others(20): Show | a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(81): Show |
84 | 338 | 0.2485 | -6 | c.235 others(23): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39249913 | GGGGTGT | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00733.hp1 others(77): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0022a0003c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0002g0054 a0001c0001t0002g0078 a0001c0001t0003g0270 others(77): Show |
80 | 338 | 0.2367 | -6 | c.234 others(23): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39249915 | GGTGTGT | G | intron_variant | MODIFIER | HG01346.hp1 HG01496.hp1 HG02004.hp2 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0023others(3): Show | a0001c0001t0002g0022 a0002c0002t0001g0224 a0002c0002t0023g0249 others(12): Show |
15 | 338 | 0.0444 | -6 | c.234 others(23): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39292122 | TGGGTGG | T | intron_variant | MODIFIER | HG01258.hp1 HG01928.hp1 HG02165.hp1 others(5): Show |
a0001a0004a0011 | a0001c0001a0004c0003a0004c0006others(1): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(5): Show | a0001c0001t0004g0275 a0001c0001t0009g0007 a0001c0001t0016g0337 others(5): Show |
8 | 338 | 0.0237 | -6 | c.831 others(23): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39301952 | CAAACCT | C | intron_variant | MODIFIER | HG02970.hp1 HG03471.hp1 HG03579.hp1 others(1): Show |
a0005 | a0005c0007 | a0005c0007t0021a0005c0007t0038a0005c0007t0070 | a0005c0007t0021g0173 a0005c0007t0021g0174 a0005c0007t0038g0138 others(1): Show |
4 | 338 | 0.0118 | -6 | c.199 others(23): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 4/40 | chr21 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80696519 | TACACAC | T | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 HG01099.hp1 others(50): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0005a0001c0001t0011others(34): Show | a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0082 others(50): Show |
53 | 265 | 0.2000 | -6 | c.306 others(23): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 26/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80750857 | TACACAC | T | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01070.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0080a0001c0001t0120a0001c0001t0121others(7): Show | a0001c0001t0080g0077 a0001c0001t0120g0180 a0001c0001t0121g0181 others(7): Show |
10 | 265 | 0.0377 | -6 | c.431 others(23): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80751981 | CATTATT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(78): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(54): Show | a0001c0001t0002g0211 a0001c0001t0006g0036 a0001c0001t0006g0038 others(78): Show |
81 | 265 | 0.3057 | -6 | c.431 others(23): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80809757 | AAAAGAG | A | 5_prime_UTR_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0152 | 1 | 265 | 0.0038 | -6 | c.-29 others(15): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 287 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80809759 | AAGAGAG | A | 5_prime_UTR_variant | MODIFIER | HG03471.hp1 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0102a0001c0001t0150 | a0001c0001t0102g0160 a0001c0001t0150g0253 |
2 | 265 | 0.0076 | -6 | c.-29 others(15): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 289 | chrX | TogoVar | ||||||
BSG_chr19_567596_588493 | 580115 | GTGGGGT | G | intron_variant | MODIFIER | HG00558.hp2 HG02040.hp1 NA18951.hp2 others(4): Show |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0001a0004c0007t0001 | a0001c0002t0001g0010 a0001c0002t0001g0029 a0001c0002t0001g0152 others(1): Show |
7 | 306 | 0.0229 | -6 | c.573 others(21): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 55001201 | CGTGTGT | C | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01109.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0114 a0001c0001t0003g0146 a0001c0001t0005g0040 others(8): Show |
14 | 448 | 0.0313 | -6 | c.177 others(23): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49591588 | ATTTTTG | A | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01071.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 |
3 | 186 | 0.0161 | -6 | c.225 others(25): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49605513 | AATATAT | A | intron_variant | MODIFIER | NA18951.hp2 NA19000.hp1 NA19070.hp1 others(1): Show |
a0006 | a0006c0005 | a0006c0005t0008 | a0006c0005t0008g0064 a0006c0005t0008g0068 a0006c0005t0008g0069 others(1): Show |
4 | 186 | 0.0215 | -6 | c.225 others(25): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49606018 | ATATATT | A | intron_variant | MODIFIER | HG03041.hp1 HG03453.hp2 |
a0003 | a0003c0003a0003c0023 | a0003c0003t0014a0003c0023t0014 | a0003c0003t0014g0160 a0003c0023t0014g0157 |
2 | 186 | 0.0108 | -6 | c.225 others(25): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49606235 | ATATATG | A | intron_variant | MODIFIER | NA18612.hp2 NA18944.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 a0002c0002t0001g0090 |
2 | 186 | 0.0108 | -6 | c.225 others(25): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49617283 | TTATATA | T | intron_variant | MODIFIER | HG02622.hp1 HG02895.hp2 HG02896.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0004a0003c0003t0010 | a0003c0003t0004g0021 a0003c0003t0010g0010 a0003c0003t0010g0011 others(1): Show |
4 | 186 | 0.0215 | -6 | c.225 others(23): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49673801 | CCTCACG | C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0031 | a0001c0001t0003g0041 a0001c0001t0003g0122 a0001c0001t0003g0128 others(3): Show |
6 | 186 | 0.0323 | -6 | c.*63 others(17): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 2253 | chr3 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47969684 | GGAGAGA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00741.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0096 a0001c0001t0001g0303 a0001c0001t0002g0154 others(3): Show |
6 | 444 | 0.0135 | -6 | c.*3- others(21): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47973218 | AAATAAT | A | intron_variant | MODIFIER | HG00423.hp2 HG01261.hp2 HG01891.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0103 others(7): Show |
10 | 444 | 0.0225 | -6 | c.*2+ others(21): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47989110 | TTTATTA | T | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00733.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0110 others(36): Show |
42 | 444 | 0.0946 | -6 | c.73+ others(21): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
BSPRY_chr9_113344541_113376222 | 113357886 | CTATATA | C | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01169.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0012a0001c0006t0002 | a0001c0001t0004g0172 a0001c0001t0004g0249 a0001c0001t0012g0030 others(2): Show |
6 | 448 | 0.0134 | -6 | c.301 others(23): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BSPRY_chr9_113344541_113376222 | 113362174 | GGTGTGT | G | intron_variant | MODIFIER | HG01106.hp2 HG01255.hp2 HG01261.hp2 others(32): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(28): Show |
35 | 448 | 0.0781 | -6 | c.532 others(21): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BSPRY_chr9_113344541_113376222 | 113363876 | CAAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG01261.hp2 others(21): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(20): Show |
24 | 448 | 0.0536 | -6 | c.557 others(23): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BSPRY_chr9_113344541_113376222 | 113376047 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00597.hp2 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0002g0009 a0001c0001t0002g0147 a0001c0001t0002g0314 others(42): Show |
54 | 448 | 0.1205 | -6 | c.*59 others(17): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 4826 | chr9 | TogoVar | |||||||
BST1_chr4_15698065_15737787 | 15698713 | GTATATA | G | upstream_gene_variant | MODIFIER | HG02647.hp2 HG03195.hp1 NA18612.hp1 others(5): Show |
a0001a0010a0015 | a0001c0001a0001c0004a0010c0024others(1): Show | a0001c0001t0004a0001c0004t0001a0010c0024t0004others(1): Show | a0001c0001t0004g0125 a0001c0004t0001g0042 a0001c0004t0001g0227 others(4): Show |
8 | 442 | 0.0181 | -6 | c.-44 others(17): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 4351 | chr4 | TogoVar | |||||||
BST2_chr19_17397939_17410630 | 17402493 | AAGAGAG | A | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01358.hp2 HG01981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0008g0016 |
6 | 412 | 0.0146 | -6 | c.*84 others(15): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 445 | chr19 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 91942298 | TTGTGTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(158): Show |
a0001a0002a0006others(6): Show | a0001c0001a0001c0004a0001c0014others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(158): Show |
161 | 330 | 0.4879 | -6 | c.254 others(19): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 91959738 | GTGTATA | G | intron_variant | MODIFIER | HG01169.hp2 HG02027.hp1 HG02135.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 a0001c0001t0002g0258 a0001c0001t0002g0266 others(4): Show |
7 | 330 | 0.0212 | -6 | c.991 others(19): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 91959740 | GTATATA | G | intron_variant | MODIFIER | HG01070.hp2 HG01255.hp1 HG01928.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0130 a0001c0001t0001g0154 a0001c0001t0001g0155 others(11): Show |
14 | 330 | 0.0424 | -6 | c.991 others(19): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92001969 | CATATAT | C | intron_variant | MODIFIER | HG03831.hp2 NA18979.hp2 NA19054.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0003a0002c0005t0003 | a0001c0001t0003g0202 a0001c0001t0003g0208 a0001c0001t0003g0311 others(1): Show |
4 | 330 | 0.0121 | -6 | c.366 others(25): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92001985 | TACACAC | T | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 others(8): Show |
11 | 330 | 0.0333 | -6 | c.366 others(25): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTBD10_chr11_13383008_13468222 | 13406616 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(221): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(182): Show |
224 | 356 | 0.6292 | -6 | c.809 others(21): Show |
BTBD10 | ENSG00000148925.11 | transcript | ENST00000278174.10 | protein_coding | 6/8 | chr11 | TogoVar |