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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRAF_chr7_140725665_140929929 | 140732170 | CAAAAAAA others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02258.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0001t0025a0001c0002t0047 | a0001c0001t0024g0145a0001c0001t0025g0115a0001c0002t0047g0058 | 3 | 196 | 0.0153 | -18 | c.*24 others(29): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 18/18 | 2409 | chr7 | TogoVar | |||||
BRAF_chr7_140725665_140929929 | 140814747 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 196 | 0.0051 | -18 | c.505 others(35): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 3/17 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140884429 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02155.hp1 NA18943.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0020 | a0001c0002t0001g0059a0001c0002t0020g0062 | 2 | 196 | 0.0102 | -18 | c.139 others(37): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2535332 | GGAGGGGG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG03579.hp1 NA19240.hp1 NA20129.hp2 |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0176a0009c0011t0001g0119a0009c0011t0001g0120 | 3 | 424 | 0.0071 | -18 | c.*27 others(29): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2477 | chr7 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2535344 | GGAGGGAG others(11): Show |
G | downstream_gene_variant | MODIFIER | NA18980.hp1 NA18982.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014a0001c0003t0001g0293 | 2 | 424 | 0.0047 | -18 | c.*27 others(29): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2465 | chr7 | TogoVar | ||||||
BRD1_chr22_49768283_49832873 | 49832717 | AACACACA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0005t0001 | a0001c0004t0001g0197a0001c0005t0001g0009a0001c0005t0001g0198others(4): Show | 8 | 258 | 0.0310 | -18 | c.-52 others(29): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 4845 | chr22 | TogoVar | ||||||
BRD3OS_chr9_134020481_134036587 | 134033423 | AGATAGAT others(11): Show |
A | downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 334 | 0.0030 | -18 | c.*64 others(29): Show |
BRD3OS | ENSG00000235106.10 | transcript | ENST00000603928.3 | protein_coding | 1837 | chr9 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15278105 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01081.hp1 NA18906.hp1 |
a0012a0013 | a0012c0024a0013c0025 | a0012c0024t0003a0013c0025t0067 | a0012c0024t0003g0146a0013c0025t0067g0179 | 2 | 208 | 0.0096 | -18 | c.-34 others(35): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15292777 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG02698.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(2): Show | a0001c0001t0004g0128a0001c0001t0005g0072a0001c0001t0012g0159others(2): Show | 5 | 208 | 0.0240 | -18 | c.-34 others(37): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15332501 | AGCCGCCG others(11): Show |
A | 5_prime_UTR_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0208 | 1 | 208 | 0.0048 | -18 | c.-26 others(27): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/20 | 59403 | chr19 | TogoVar | |||||
BRD7_chr16_50310957_50373988 | 50341928 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02965.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0033a0001c0001t0007g0065a0001c0001t0007g0096 | 3 | 402 | 0.0075 | -18 | c.592 others(35): Show |
BRD7 | ENSG00000166164.17 | transcript | ENST00000394688.8 | protein_coding | 5/16 | chr16 | TogoVar | ||||||
BRD7_chr16_50310957_50373988 | 50361857 | TAATCCTC others(11): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02818.hp2 others(2): Show |
a0003a0012 | a0003c0004a0012c0005 | a0003c0004t0010a0003c0004t0030a0012c0005t0010 | a0003c0004t0010g0268a0003c0004t0010g0269a0003c0004t0010g0270others(2): Show | 5 | 402 | 0.0124 | -18 | c.258 others(35): Show |
BRD7 | ENSG00000166164.17 | transcript | ENST00000394688.8 | protein_coding | 2/16 | chr16 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91945279 | AATATATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176a0001c0001t0001g0277 | 2 | 318 | 0.0063 | -18 | c.-44 others(29): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 4121 | chr1 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91945317 | TATATATA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp1 NA18948.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0073a0002c0002t0005g0084 | 2 | 318 | 0.0063 | -18 | c.-44 others(29): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 4083 | chr1 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91962144 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02630.hp1 HG03688.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0001 | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0018others(2): Show | 5 | 318 | 0.0157 | -18 | c.-37 others(33): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRDT_chr1_91944401_92019421 | 91995403 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00741.hp2 others(6): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0002 | a0003c0003t0001g0157a0003c0003t0001g0303a0004c0004t0002g0295others(6): Show | 9 | 318 | 0.0283 | -18 | c.228 others(37): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 125019642 | TTTTTTTT others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(187): Show | 192 | 410 | 0.4683 | -18 | c.317 others(35): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRINP1_chr9_119161629_119374435 | 119219646 | TGAGAGAG others(11): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0132a0001c0001t0001g0212a0001c0001t0003g0009others(7): Show | 10 | 236 | 0.0424 | -18 | c.686 others(35): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 5/7 | chr9 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119366503 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02886.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0002 | a0001c0001t0001g0212a0001c0005t0002g0236 | 2 | 236 | 0.0085 | -18 | c.-51 others(35): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119373722 | CAAAAAAA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0151 | 1 | 236 | 0.0042 | -18 | c.-47 others(29): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 4288 | chr9 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190203750 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01074.hp1 others(38): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0033others(38): Show | 41 | 240 | 0.1708 | -18 | c.961 others(37): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190405475 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 240 | 0.0042 | -18 | c.236 others(37): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190480746 | AATATTAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 240 | 0.0042 | -18 | c.-33 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2883 | chr1 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61772157 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02615.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0001c0001t0015a0001c0001t0050others(3): Show | a0001c0001t0006g0252a0001c0001t0015g0151a0001c0001t0015g0251others(6): Show | 9 | 266 | 0.0338 | -18 | c.209 others(37): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61772192 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG03098.hp1 HG03540.hp1 NA18747.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0017a0002c0003t0005others(1): Show | a0001c0001t0002g0052a0001c0001t0017g0142a0002c0003t0005g0045others(2): Show | 5 | 266 | 0.0188 | -18 | c.209 others(37): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61846228 | GAGAGAGA others(11): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp1 HG02257.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0006a0001c0001t0008a0001c0001t0015others(11): Show | a0001c0001t0006g0252a0001c0001t0006g0260a0001c0001t0008g0241others(24): Show | 27 | 266 | 0.1015 | -18 | c.627 others(33): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 6/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61846246 | AAGAGAGA others(11): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0246 | 1 | 266 | 0.0038 | -18 | c.627 others(33): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 6/19 | chr17 | TogoVar | ||||||
BRME1_chr19_13877348_13911117 | 13896609 | TATACATA others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0202a0001c0001t0006g0113 | 2 | 322 | 0.0062 | -18 | c.32- others(33): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
BRME1_chr19_13877348_13911117 | 13904713 | TACAGGTG others(11): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG03098.hp2 |
a0007 | a0007c0011 | a0007c0011t0007 | a0007c0011t0007g0038a0007c0011t0007g0039 | 2 | 322 | 0.0062 | -18 | c.31+ others(31): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | GTATATAT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp1 HG02165.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0032a0001c0001t0001g0153others(4): Show | 8 | 374 | 0.0214 | -18 | c.*27 others(29): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1415771 | GTGGTCCC others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(126): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0049a0001c0001t0001g0057a0001c0001t0001g0058others(125): Show | 129 | 360 | 0.3583 | -18 | c.92- others(35): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRWD1_chr21_39180482_39318632 | 39217033 | ATAAATAT others(11): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01928.hp2 HG01981.hp1 others(4): Show |
a0001 | a0001c0001a0001c0024 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0039a0001c0001t0003g0293a0001c0001t0003g0324others(4): Show | 7 | 338 | 0.0207 | -18 | c.365 others(37): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39241473 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG02083.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0038a0001c0001t0003g0325a0001c0001t0004g0272others(2): Show | 5 | 338 | 0.0148 | -18 | c.248 others(37): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39248641 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02258.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0070a0001c0001t0011g0071a0001c0001t0011g0072others(1): Show | 4 | 338 | 0.0118 | -18 | c.235 others(35): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39249913 | GGGGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG03139.hp2 HG03225.hp1 HG06807.hp1 |
a0006 | a0006c0009a0006c0013 | a0006c0009t0012a0006c0013t0012 | a0006c0009t0012g0083a0006c0009t0012g0086a0006c0013t0012g0085 | 3 | 338 | 0.0089 | -18 | c.234 others(35): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39273630 | AAGGCTGA others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00733.hp1 others(23): Show |
a0001a0004a0011 | a0001c0001a0004c0003a0011c0026 | a0001c0001t0003a0001c0001t0004a0001c0001t0016others(6): Show | a0001c0001t0003g0270a0001c0001t0004g0257a0001c0001t0004g0266others(23): Show | 26 | 338 | 0.0769 | -18 | c.124 others(35): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 13/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39295175 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG03540.hp1 |
a0004 | a0004c0003 | a0004c0003t0025a0004c0003t0026 | a0004c0003t0025g0002a0004c0003t0026g0001 | 2 | 338 | 0.0059 | -18 | c.609 others(33): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 7/40 | chr21 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80751981 | CATTATTA others(11): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0147 | a0001c0001t0147g0250 | 1 | 265 | 0.0038 | -18 | c.431 others(35): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | ||||||
BSG_chr19_567596_588493 | 579267 | AGGGGGTG others(11): Show |
A | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0167 | 1 | 306 | 0.0033 | -18 | c.416 others(33): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BSN_chr3_49549477_49676549 | 49605785 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0092 | 1 | 186 | 0.0054 | -18 | c.225 others(37): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BSN_chr3_49549477_49676549 | 49673801 | CCTCACGC others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01884.hp1 HG02622.hp1 others(11): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0004a0003c0003t0010a0003c0004t0004 | a0003c0003t0004g0013a0003c0003t0004g0014a0003c0003t0004g0016others(11): Show | 14 | 186 | 0.0753 | -18 | c.*63 others(29): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 2253 | chr3 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47965737 | ATTTACCA others(11): Show |
A | downstream_gene_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 444 | 0.0023 | -18 | c.*24 others(29): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 2308 | chr19 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47969684 | GGAGAGAG others(11): Show |
G | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 444 | 0.0023 | -18 | c.*3- others(33): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47973218 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(82): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0086a0001c0001t0001g0089others(80): Show | 85 | 444 | 0.1914 | -18 | c.*2+ others(33): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47989110 | TTTATTAT others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(102): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0087a0001c0001t0001g0088others(101): Show | 105 | 444 | 0.2365 | -18 | c.73+ others(33): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
BSPRY_chr9_113344541_113376222 | 113357886 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01255.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0019a0001c0001t0001g0040a0001c0001t0001g0089others(12): Show | 18 | 448 | 0.0402 | -18 | c.301 others(35): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BSPRY_chr9_113344541_113376222 | 113357926 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA18950.hp1 NA18966.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 3 | 448 | 0.0067 | -18 | c.301 others(35): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BTAF1_chr10_91918770_92036437 | 91991789 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG02040.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0325a0001c0001t0003g0177a0001c0001t0003g0179others(11): Show | 14 | 330 | 0.0424 | -18 | c.285 others(35): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTBD17_chr17_74351416_74366868 | 74365052 | TATATATA others(11): Show |
T | upstream_gene_variant | MODIFIER | NA19062.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0052 | 1 | 444 | 0.0023 | -18 | c.-32 others(29): Show |
BTBD17 | ENSG00000204347.4 | transcript | ENST00000375366.4 | protein_coding | 3185 | chr17 | TogoVar | ||||||
BTBD19_chr1_44803523_44820585 | 44812786 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp1 others(68): Show |
a0001a0004a0005 | a0001c0001a0004c0007a0005c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0003g0001a0001c0001t0003g0085a0001c0001t0004g0001others(26): Show | 71 | 436 | 0.1628 | -18 | c.415 others(33): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |