regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B4GALNT4_chr11_364499_387117 | 375032 | T | TGGAAGGG others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 184 | 0.0054 | 30 | c.784 others(45): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375035 | A | GAGGGAGG others(23): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0083 | 1 | 184 | 0.0054 | 30 | c.784 others(45): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375062 | T | AGGAAGGG others(23): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 184 | 0.0054 | 30 | c.784 others(45): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375107 | A | AGGAAGGG others(23): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0024 | a0024c0036 | a0024c0036t0001 | a0024c0036t0001g0023 | 1 | 184 | 0.0054 | 30 | c.784 others(45): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375122 | A | AGGAAGGG others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0009 | 1 | 184 | 0.0054 | 30 | c.784 others(45): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375167 | T | TGGAAGGG others(23): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02080.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0001c0003t0004a0002c0002t0001 | a0001c0003t0001g0176a0001c0003t0004g0010a0002c0002t0001g0149others(1): Show | 4 | 184 | 0.0217 | 30 | c.784 others(45): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375167 | T | TGGAAGGG others(23): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0016 | a0016c0024 | a0016c0024t0001 | a0016c0024t0001g0012 | 1 | 184 | 0.0054 | 30 | c.784 others(45): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375203 | G | GGAGGGAG others(23): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0113 | 1 | 184 | 0.0054 | 30 | c.784 others(45): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALT1_chr9_33105642_33172336 | 33157063 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG02055.hp2 NA19091.hp1 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0020a0006c0007t0002 | a0001c0001t0020g0286a0006c0007t0002g0350 | 2 | 366 | 0.0055 | 30 | c.412 others(47): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28196321 | C | CGTCTCAA others(23): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01192.hp2 HG02145.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0060a0001c0001t0001g0079others(1): Show | 4 | 158 | 0.0253 | 30 | c.681 others(49): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | chr2 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0050 | 1 | 194 | 0.0052 | 30 | c.-16 others(49): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81418810 | C | CGCGCATG others(23): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0018 | a0003c0018t0002 | a0003c0018t0002g0210 | 1 | 332 | 0.0030 | 30 | c.179 others(47): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81457577 | A | AGGCAGGG others(23): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0027 | a0027c0088 | a0027c0088t0004 | a0027c0088t0004g0165 | 1 | 332 | 0.0030 | 30 | c.502 others(42): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP2L1_chr7_98286650_98406090 | 98353594 | T | TATGTATA others(23): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0003 | a0003c0010 | a0003c0010t0003 | a0003c0010t0003g0295 | 1 | 298 | 0.0034 | 30 | c.214 others(47): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 3/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0257 | 1 | 298 | 0.0034 | 30 | c.128 others(47): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18942.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156a0001c0002t0001g0199 | 2 | 298 | 0.0067 | 30 | c.128 others(47): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0173 | 1 | 298 | 0.0034 | 30 | c.128 others(47): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81055569 | G | GGTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02148.hp2 HG03688.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0083a0002c0002t0002g0064a0002c0002t0002g0067 | 3 | 376 | 0.0080 | 30 | c.130 others(47): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
BAMBI_chr10_28672521_28687932 | 28683987 | C | CAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 436 | 0.0023 | 30 | c.*15 others(41): Show |
BAMBI | ENSG00000095739.11 | transcript | ENST00000375533.6 | protein_coding | 1056 | chr10 | TogoVar | ||||||
BANF2_chr20_17694966_17740871 | 17710063 | T | TATCACCT others(23): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 400 | 0.0025 | 30 | c.-16 others(51): Show |
BANF2 | ENSG00000125888.15 | transcript | ENST00000246090.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 101936260 | C | CATGTATG others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00733.hp1 others(50): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0003a0002c0019others(3): Show | a0001c0001t0002a0002c0003t0001a0002c0003t0002others(4): Show | a0001c0001t0002g0024a0001c0001t0002g0089a0002c0003t0001g0164others(50): Show | 53 | 284 | 0.1866 | 30 | c.120 others(51): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 101947309 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02622.hp1 HG02647.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0099a0001c0001t0001g0104a0001c0001t0003g0027others(4): Show | 7 | 284 | 0.0247 | 30 | c.120 others(51): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 102003925 | G | GTATATGT others(23): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0236 | 1 | 284 | 0.0035 | 30 | c.120 others(51): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 102007092 | A | ATATATTT others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02965.hp1 HG02965.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0093a0001c0001t0001g0239a0001c0001t0003g0016others(5): Show | 8 | 284 | 0.0282 | 30 | c.120 others(51): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 102007092 | A | ATATATTT others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02622.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0170a0001c0002t0003g0169 | 2 | 284 | 0.0070 | 30 | c.120 others(51): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 102007146 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02165.hp2 NA20300.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0154a0003c0004t0001g0060 | 2 | 284 | 0.0070 | 30 | c.120 others(51): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 102007156 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18906.hp1 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0003 | a0003c0004t0001g0145a0003c0004t0003g0252 | 2 | 284 | 0.0070 | 30 | c.120 others(51): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BASP1_chr5_17212631_17281834 | 17217071 | T | TGTGAGAG others(23): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01433.hp1 HG01516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0004g0342a0001c0001t0005g0019a0001c0001t0005g0324others(4): Show | 7 | 370 | 0.0189 | 30 | c.-74 others(39): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 559 | chr5 | TogoVar | ||||||
BATF_chr14_75517469_75551992 | 75536722 | T | TTAAAATA others(23): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 376 | 0.0027 | 30 | c.169 others(47): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BATF_chr14_75517469_75551992 | 75547205 | C | CCTCCTCC others(23): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02717.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0121a0001c0001t0001g0122others(8): Show | 12 | 376 | 0.0319 | 30 | c.*53 others(39): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 214 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832209 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02015.hp1 |
a0001a0005 | a0001c0003a0005c0008 | a0001c0003t0005a0005c0008t0003 | a0001c0003t0005g0371a0005c0008t0003g0178 | 2 | 380 | 0.0053 | 30 | c.393 others(47): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832211 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18951.hp1 NA18992.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0140a0001c0002t0003g0153a0001c0002t0003g0160 | 3 | 380 | 0.0079 | 30 | c.393 others(47): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03834.hp2 NA19087.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093a0001c0002t0002g0094a0001c0002t0002g0139 | 3 | 380 | 0.0079 | 30 | c.393 others(47): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG00609.hp2 HG03239.hp2 HG03490.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0124a0001c0002t0001g0125a0001c0002t0002g0068others(12): Show | 15 | 380 | 0.0395 | 30 | c.393 others(47): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0116 | 1 | 380 | 0.0026 | 30 | c.393 others(47): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0105 | 1 | 380 | 0.0026 | 30 | c.393 others(47): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02486.hp2 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0002a0001c0012t0004 | a0001c0002t0002g0138a0001c0012t0004g0191 | 2 | 380 | 0.0053 | 30 | c.393 others(47): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0031 | 1 | 380 | 0.0026 | 30 | c.393 others(47): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01981.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0353a0001c0004t0004g0379 | 2 | 380 | 0.0053 | 30 | c.393 others(47): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACATA others(23): Show |
intron_variant | MODIFIER | HG01123.hp1 NA20300.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0340a0001c0004t0004g0343 | 2 | 380 | 0.0053 | 30 | c.393 others(47): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACATATA others(23): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0057 | 1 | 380 | 0.0026 | 30 | c.393 others(47): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1B_chr7_73435406_73527293 | 73526868 | A | AAAAAATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 200 | 0.0050 | 30 | c.-49 others(41): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4576 | chr7 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56597637 | G | GACACACA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0073 | a0001c0002t0073g0103 | 1 | 316 | 0.0032 | 30 | c.*95 others(39): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 980 | chr12 | TogoVar | |||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 398 | 0.0025 | 30 | c.*44 others(41): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72702802 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 398 | 0.0025 | 30 | c.77- others(45): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107778994 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG02055.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0021others(1): Show | a0001c0001t0002g0177a0001c0001t0002g0199a0001c0001t0002g0200others(3): Show | 6 | 222 | 0.0270 | 30 | c.220 others(47): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107797337 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01978.hp1 HG02572.hp2 others(5): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(3): Show | a0001c0001t0001g0104a0001c0001t0001g0114a0001c0001t0001g0140others(5): Show | 8 | 222 | 0.0360 | 30 | c.235 others(49): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107591641 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 398 | 0.0025 | 30 | c.194 others(47): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107591656 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(58): Show | 73 | 398 | 0.1834 | 30 | c.194 others(47): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAS1_chr20_53938541_54075594 | 54005303 | A | AAAAACAA others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(47): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0007a0001c0017others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0223a0001c0001t0002g0153a0001c0001t0002g0169others(47): Show | 50 | 364 | 0.1374 | 30 | c.724 others(47): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar |