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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B4GALNT3_chr12_454939_568509 | 511879 | C | CTTCCACC others(18): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03209.hp1 |
a0001a0006 | a0001c0048a0006c0007 | a0001c0048t0044a0006c0007t0065 | a0001c0048t0044g0394 a0006c0007t0065g0206 |
2 | 392 | 0.0051 | 25 | c.170 others(44): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 511884 | T | TCTTCCAC others(18): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02055.hp1 HG02647.hp1 others(3): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0004a0006c0007others(1): Show | a0001c0001t0022a0003c0004t0029a0003c0004t0086others(2): Show | a0001c0001t0022g0036 a0001c0001t0022g0037 a0003c0004t0029g0300 others(3): Show |
6 | 121 | 0.0496 | 25 | c.170 others(44): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 369333 | C | CGCCTCCC others(18): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(43): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0026others(12): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0004others(15): Show | a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0124 others(43): Show |
46 | 181 | 0.2541 | 25 | c.-47 others(34): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 165 | chr11 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 374865 | G | GAGGAGGA others(18): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0057 | 1 | 177 | 0.0056 | 25 | c.784 others(40): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33157063 | T | TCACACAC others(18): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 31 | 0.0323 | 25 | c.412 others(42): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT7_chr5_177595132_177615330 | 177607161 | G | GAGGGACT others(18): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0147 | 1 | 455 | 0.0022 | 25 | c.414 others(40): Show |
B4GALT7 | ENSG00000027847.14 | transcript | ENST00000029410.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
B4GALT7_chr5_177595132_177615330 | 177607161 | G | GAGGGACT others(18): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 455 | 0.0022 | 25 | c.414 others(40): Show |
B4GALT7 | ENSG00000027847.14 | transcript | ENST00000029410.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28040294 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 13 | 0.0769 | 25 | c.496 others(42): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28176569 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0109 a0001c0001t0002g0149 |
2 | 6 | 0.3333 | 25 | c.680 others(44): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28196321 | C | CGTCTCAA others(18): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0136 | 1 | 139 | 0.0072 | 25 | c.681 others(44): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | chr2 | TogoVar | |||||||
BACE2_chr21_41163160_41287530 | 41174138 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02056.hp1 HG03492.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001a0001c0002t0013 | a0001c0001t0006g0001 a0001c0002t0001g0116 a0001c0002t0001g0175 others(2): Show |
5 | 101 | 0.0495 | 25 | c.312 others(42): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0003 | a0003c0015 | a0003c0015t0105 | a0003c0015t0105g0156 | 1 | 100 | 0.0100 | 25 | c.-16 others(44): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0055 | 1 | 100 | 0.0100 | 25 | c.-16 others(44): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA19085.hp1 NA19088.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0078a0001c0003t0009 | a0001c0001t0078g0032 a0001c0003t0009g0129 |
2 | 101 | 0.0198 | 25 | c.-16 others(44): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01175.hp2 HG01952.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0052a0001c0002t0006a0001c0003t0019others(1): Show | a0001c0001t0052g0071 a0001c0002t0006g0073 a0001c0003t0019g0072 others(2): Show |
5 | 104 | 0.0481 | 25 | c.-16 others(44): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90103029 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0094 | 1 | 53 | 0.0189 | 25 | c.-16 others(46): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81432720 | G | GCCATCCC others(18): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02080.hp2 NA19011.hp1 others(1): Show |
a0003a0005 | a0003c0002a0005c0005 | a0003c0002t0001a0005c0005t0008 | a0003c0002t0001g0105 a0003c0002t0001g0106 a0003c0002t0001g0213 others(1): Show |
4 | 25 | 0.1600 | 25 | c.359 others(42): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81432729 | A | AGGCCCAC others(18): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0051 | a0051c0100 | a0051c0100t0001 | a0051c0100t0001g0237 | 1 | 330 | 0.0030 | 25 | c.359 others(42): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81432815 | G | GCCCCATC others(18): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 281 | 0.0036 | 25 | c.359 others(42): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81432911 | T | TCCCCCCA others(18): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01071.hp2 others(7): Show |
a0001a0002a0006 | a0001c0001a0002c0008a0002c0012others(1): Show | a0001c0001t0002a0002c0008t0004a0002c0012t0002others(2): Show | a0001c0001t0002g0012 a0001c0001t0002g0130 a0002c0008t0004g0117 others(7): Show |
10 | 285 | 0.0351 | 25 | c.359 others(42): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81432917 | C | CATCCCCA others(18): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0006 | a0006c0020 | a0006c0020t0002 | a0006c0020t0002g0022 | 1 | 330 | 0.0030 | 25 | c.359 others(42): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02074.hp1 |
a0001a0003 | a0001c0002a0003c0010 | a0001c0002t0001a0003c0010t0003 | a0001c0002t0001g0279 a0003c0010t0003g0200 |
2 | 159 | 0.0126 | 25 | c.128 others(42): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0196 | 1 | 158 | 0.0063 | 25 | c.128 others(42): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0276 | 1 | 158 | 0.0063 | 25 | c.128 others(42): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAATAT others(18): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0259 | 1 | 158 | 0.0063 | 25 | c.128 others(42): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81055569 | G | GGTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01943.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0057 a0001c0001t0001g0083 others(13): Show |
16 | 272 | 0.0588 | 25 | c.130 others(42): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
BAMBI_chr10_28672521_28687932 | 28683987 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00733.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0015 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0010 others(2): Show |
9 | 140 | 0.0643 | 25 | c.*15 others(36): Show |
BAMBI | ENSG00000095739.11 | transcript | ENST00000375533.6 | protein_coding | 1056 | chr10 | TogoVar | |||||||
BANF2_chr20_17694966_17740871 | 17740061 | A | ACCTTGCT others(18): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG03139.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0026 a0001c0003t0002g0097 |
2 | 397 | 0.0050 | 25 | c.*42 others(36): Show |
BANF2 | ENSG00000125888.15 | transcript | ENST00000246090.6 | protein_coding | 4191 | chr20 | TogoVar | |||||||
BANK1_chr4_101785730_102079812 | 102007070 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01496.hp2 HG02300.hp2 others(2): Show |
a0003a0005 | a0003c0004a0005c0006 | a0003c0004t0001a0005c0006t0001a0005c0006t0003 | a0003c0004t0001g0249 a0003c0004t0001g0250 a0003c0004t0001g0251 others(2): Show |
5 | 281 | 0.0178 | 25 | c.120 others(46): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88010914 | G | GCATTTAG others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(43): Show | a0001c0001t0001g0006 a0001c0001t0001g0093 a0001c0001t0001g0106 others(277): Show |
289 | 350 | 0.8257 | 25 | c.655 others(42): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88068954 | G | GCCCCTGT others(18): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01258.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0013 | a0001c0001t0001g0218 a0001c0001t0006g0244 a0001c0001t0013g0206 |
3 | 350 | 0.0086 | 25 | c.137 others(44): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BARHL2_chr1_90706539_90722302 | 90719504 | G | GAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 16 | 0.1250 | 25 | c.-23 others(36): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212681420 | A | ATTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 NA19078.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0088 a0001c0001t0001g0139 |
3 | 74 | 0.0405 | 25 | c.*53 others(36): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 4996 | chr1 | TogoVar | |||||||
BATF_chr14_75517469_75551992 | 75536722 | T | TTAAAATA others(18): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01081.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0070 a0001c0001t0001g0148 others(8): Show |
14 | 53 | 0.2642 | 25 | c.169 others(42): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BAX_chr19_48949875_48966798 | 48962914 | T | TTGGGTCT others(18): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 416 | 0.0024 | 25 | c.*12 others(36): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 1117 | chr19 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34784367 | C | CCAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0191 | 1 | 92 | 0.0109 | 25 | c.183 others(42): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159325092 | T | TATTATAT others(18): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 213 | 0.0047 | 25 | c.621 others(42): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | |||||||
BBOX1_chr11_27035815_27132809 | 27057063 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 196 | 0.0051 | 25 | c.220 others(40): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 269 | 0.0037 | 25 | c.*44 others(36): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACACAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 NA18747.hp1 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0152 a0001c0001t0001g0157 |
3 | 271 | 0.0111 | 25 | c.*44 others(36): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72687124 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347 | 1 | 14 | 0.0714 | 25 | c.24+ others(38): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107797337 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0158 |
2 | 82 | 0.0244 | 25 | c.235 others(44): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54005302 | C | CGAAAACA others(18): Show |
intron_variant | MODIFIER | HG02040.hp2 HG03834.hp1 |
a0013a0030 | a0013c0031a0030c0038 | a0013c0031t0005a0030c0038t0036 | a0013c0031t0005g0044 a0030c0038t0036g0109 |
2 | 361 | 0.0055 | 25 | c.724 others(42): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54005303 | A | AAAAACAA others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00621.hp2 others(81): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0007a0001c0034others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(36): Show | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0254 others(78): Show |
84 | 209 | 0.4019 | 25 | c.724 others(42): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60692806 | A | AATCGTTT others(18): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01256.hp1 others(17): Show |
a0003 | a0003c0001a0003c0010 | a0003c0001t0001a0003c0001t0002a0003c0010t0002 | a0003c0001t0001g0002 a0003c0001t0001g0003 a0003c0001t0001g0005 others(17): Show |
20 | 74 | 0.2703 | 25 | c.214 others(42): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61044465 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0028 | 1 | 25 | 0.0400 | 25 | c.202 others(44): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61191780 | A | AAAAAGAA others(18): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02886.hp2 HG03195.hp1 others(1): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0001 | a0001c0002t0002a0002c0003t0002a0003c0001t0001 | a0001c0002t0002g0053 a0002c0003t0002g0036 a0003c0001t0001g0021 others(1): Show |
4 | 32 | 0.1250 | 25 | c.242 others(48): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24886944 | T | TCTCAGCT others(18): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0120 | 1 | 320 | 0.0031 | 25 | c.280 others(42): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCHE_chr3_165767904_165842423 | 165791948 | A | AAAAATAA others(18): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0050 a0001c0001t0001g0209 a0001c0001t0006g0221 others(3): Show |
6 | 195 | 0.0308 | 25 | c.151 others(44): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60507316 | G | GGGGAGGG others(18): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0011 | 1 | 76 | 0.0132 | 25 | c.386 others(44): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar |