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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BACE2_chr21_41163160_41287530 | 41174138 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01256.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0171 a0001c0001t0002g0190 a0001c0001t0004g0163 others(7): Show |
10 | 106 | 0.0943 | 17 | c.312 others(34): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90065270 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01952.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0021a0001c0001t0049a0001c0001t0076others(3): Show | a0001c0001t0021g0102 a0001c0001t0049g0031 a0001c0001t0076g0054 others(3): Show |
6 | 13 | 0.4615 | 17 | c.-13 others(36): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90092280 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0084a0001c0002t0035 | a0001c0001t0084g0021 a0001c0002t0035g0146 |
2 | 176 | 0.0114 | 17 | c.-16 others(36): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0004 | a0001c0004t0075 | a0001c0004t0075g0144 | 1 | 100 | 0.0100 | 17 | c.-16 others(36): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02155.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0013a0001c0005t0005 | a0001c0001t0013g0049 a0001c0005t0005g0095 |
2 | 101 | 0.0198 | 17 | c.-16 others(36): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90103029 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0062 | 1 | 53 | 0.0189 | 17 | c.-16 others(38): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90161703 | A | ATCAGAAT others(10): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0174 | 1 | 192 | 0.0052 | 17 | c.-16 others(38): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119665092 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0244 a0001c0001t0005g0289 |
2 | 219 | 0.0091 | 17 | c.181 others(34): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119665092 | T | TTTGTGTG others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01256.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0207 a0001c0001t0004g0017 a0001c0001t0004g0248 |
5 | 222 | 0.0225 | 17 | c.181 others(34): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675778 | T | TCCTTCCC others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0110 | 1 | 328 | 0.0030 | 17 | c.910 others(32): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38180522 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02165.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0008g0281 |
3 | 156 | 0.0192 | 17 | c.270 others(34): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98401378 | C | CTGGAGTG others(10): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG02717.hp1 NA21309.hp1 |
a0001 | a0001c0005 | a0001c0005t0011a0001c0005t0020 | a0001c0005t0011g0089 a0001c0005t0011g0091 a0001c0005t0020g0090 |
3 | 296 | 0.0101 | 17 | c.-52 others(26): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 289 | chr7 | TogoVar | |||||||
BANF1_chr11_65997503_66009149 | 66007272 | A | ACCACAAG others(10): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02976.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 5 | 372 | 0.0134 | 17 | c.*35 others(28): Show |
BANF1 | ENSG00000175334.8 | transcript | ENST00000312175.7 | protein_coding | 3124 | chr11 | TogoVar | |||||||
BANK1_chr4_101785730_102079812 | 101791044 | G | GCACTGAG others(10): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19240.hp1 NA20300.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0002t0007a0003c0004t0001 | a0001c0001t0003g0003 a0001c0002t0007g0002 a0003c0004t0001g0004 |
3 | 282 | 0.0106 | 17 | c.70+ others(29): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87987712 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0152 | 1 | 91 | 0.0110 | 17 | c.362 others(34): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88019578 | T | TGCGGGGG others(10): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0075 | 1 | 244 | 0.0041 | 17 | c.895 others(32): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 88081403 | T | TAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0007 | 2 | 106 | 0.0189 | 17 | c.*47 others(28): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4088 | chr16 | TogoVar | |||||||
BARHL2_chr1_90706539_90722302 | 90719504 | G | GAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 HG02886.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0017 others(1): Show |
4 | 18 | 0.2222 | 17 | c.-23 others(28): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar | |||||||
BARX1_chr9_93946627_93960355 | 93950450 | A | ACCCCCCC others(10): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02257.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 5 | 301 | 0.0166 | 17 | c.*17 others(28): Show |
BARX1 | ENSG00000131668.14 | transcript | ENST00000253968.11 | protein_coding | 1176 | chr9 | TogoVar | |||||||
BASP1_chr5_17212631_17281834 | 17212996 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0134 | 1 | 104 | 0.0096 | 17 | c.-48 others(28): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 4634 | chr5 | TogoVar | |||||||
BATF2_chr11_64982945_65001971 | 64983512 | T | TTATTTTA others(10): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0033 |
3 | 387 | 0.0078 | 17 | c.*56 others(28): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4432 | chr11 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212681420 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01361.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(14): Show |
22 | 93 | 0.2366 | 17 | c.*53 others(28): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 4996 | chr1 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212687967 | A | AAAAAGAA others(10): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 158 | 0.0063 | 17 | c.196 others(32): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34784367 | C | CCAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0150 | 1 | 92 | 0.0109 | 17 | c.183 others(34): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34866502 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0005a0001c0003t0012 | a0001c0001t0001g0014 a0001c0003t0005g0004 a0001c0003t0005g0005 others(14): Show |
17 | 120 | 0.1417 | 17 | c.114 others(34): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34866502 | A | AAAAAGAA others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0364 a0001c0002t0004g0365 a0001c0002t0004g0366 others(1): Show |
4 | 107 | 0.0374 | 17 | c.114 others(34): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73497065 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02257.hp2 HG03225.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0002a0001c0001t0007a0001c0003t0006others(1): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0041 others(11): Show |
14 | 140 | 0.1000 | 17 | c.571 others(34): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4/19 | chr7 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73497081 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 a0001c0001t0002g0053 |
2 | 197 | 0.0102 | 17 | c.571 others(34): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4/19 | chr7 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73500890 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19043.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0197 a0001c0003t0006g0198 |
2 | 190 | 0.0105 | 17 | c.370 others(34): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 3/19 | chr7 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159374836 | T | TATGCAAA others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG03041.hp1 |
a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0010 a0004c0009t0001g0099 a0004c0009t0001g0100 |
3 | 214 | 0.0140 | 17 | c.400 others(32): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 25/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159491720 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02896.hp1 NA19066.hp2 NA19079.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0009 | a0001c0001t0001a0001c0001t0002a0004c0004t0001others(1): Show | a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0002g0134 others(2): Show |
5 | 67 | 0.0746 | 17 | c.-2- others(34): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BBOX1_chr11_27035815_27132809 | 27057063 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03130.hp1 HG03471.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0015 a0001c0002t0001g0190 a0001c0004t0001g0284 |
3 | 198 | 0.0152 | 17 | c.220 others(32): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480350 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0135 |
2 | 379 | 0.0053 | 17 | c.*44 others(28): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4034 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 others(2): Show |
5 | 273 | 0.0183 | 17 | c.*44 others(28): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACACAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 269 | 0.0037 | 17 | c.*44 others(28): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480362 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 395 | 0.0025 | 17 | c.*43 others(28): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4022 | chr16 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72687124 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01099.hp1 HG01168.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0172 a0001c0001t0001g0359 a0001c0001t0001g0360 others(49): Show |
52 | 65 | 0.8000 | 17 | c.24+ others(30): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72688411 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00609.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 others(53): Show |
56 | 73 | 0.7671 | 17 | c.24+ others(32): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72702802 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01934.hp2 HG01952.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(25): Show |
28 | 46 | 0.6087 | 17 | c.77- others(32): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33565839 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0183 | 1 | 241 | 0.0041 | 17 | c.252 others(38): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33565844 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0221 |
2 | 109 | 0.0183 | 17 | c.252 others(38): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33590459 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 123 | 0.0081 | 17 | c.252 others(38): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93681543 | G | GGCGCCCC others(10): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0197 | 1 | 200 | 0.0050 | 17 | c.-12 others(30): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53954335 | G | GAGAGAGA others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0019 | a0019c0022 | a0019c0022t0013 | a0019c0022t0013g0308 | 1 | 359 | 0.0028 | 17 | c.155 others(34): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 11/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54041908 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0029 | a0001c0001t0028g0247 a0001c0001t0028g0248 a0001c0001t0029g0253 |
3 | 239 | 0.0126 | 17 | c.143 others(36): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60700185 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02818.hp2 others(10): Show |
a0001 | a0001c0002a0001c0004a0001c0008 | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(1): Show | a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0065 others(10): Show |
13 | 56 | 0.2321 | 17 | c.215 others(34): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60955386 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02922.hp1 others(2): Show |
a0001a0002a0004 | a0001c0002a0002c0005a0004c0009 | a0001c0002t0001a0002c0005t0001a0004c0009t0001 | a0001c0002t0001g0042 a0001c0002t0001g0056 a0002c0005t0001g0019 others(2): Show |
5 | 39 | 0.1282 | 17 | c.122 others(36): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61044465 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 | 1 | 25 | 0.0400 | 17 | c.202 others(36): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61044465 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02818.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0069 a0001c0002t0002g0070 |
2 | 26 | 0.0769 | 17 | c.202 others(36): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61044465 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0018 | 1 | 25 | 0.0400 | 17 | c.202 others(36): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |