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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRAF_chr7_140725665_140929929 | 140814747 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 168 | 0.0060 | -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 | a0001c0002t0001g0059 a0001c0002t0020g0062 |
2 | 50 | 0.0400 | -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 | a0001c0001t0001g0018 a0009c0011t0001g0038 |
3 | 421 | 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 | a0001c0003t0001g0039 a0001c0003t0001g0213 |
2 | 377 | 0.0053 | -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 | a0001c0004t0001g0196 a0001c0005t0001g0010 a0001c0005t0001g0197 others(4): Show |
8 | 58 | 0.1379 | -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 | 332 | 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 |
a0007a0012 | a0007c0024a0012c0025 | a0007c0024t0003a0012c0025t0068 | a0007c0024t0003g0146 a0012c0025t0068g0179 |
2 | 19 | 0.1053 | -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 | a0001c0001t0004g0128 a0001c0001t0005g0072 a0001c0001t0012g0159 others(2): Show |
5 | 22 | 0.2273 | -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 | a0001c0001t0077 | a0001c0001t0077g0208 | 1 | 68 | 0.0147 | -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 | a0001c0001t0007g0075 a0001c0001t0007g0107 a0001c0001t0007g0120 |
3 | 76 | 0.0395 | -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 |
a0003a0008 | a0003c0004a0008c0005 | a0003c0004t0010a0003c0004t0030a0008c0005t0010 | a0003c0004t0010g0251 a0003c0004t0010g0252 a0003c0004t0010g0253 others(2): Show |
5 | 400 | 0.0125 | -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 | a0001c0001t0001g0178 a0001c0001t0001g0273 |
2 | 110 | 0.0182 | -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 | a0002c0002t0002g0071 a0002c0002t0005g0080 |
2 | 316 | 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 | a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 others(2): Show |
5 | 21 | 0.2381 | -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 | a0003c0003t0001g0158 a0003c0003t0001g0300 a0004c0004t0002g0292 others(6): Show |
9 | 21 | 0.4286 | -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(46): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(184): Show |
192 | 408 | 0.4706 | -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 | a0001c0001t0001g0130 a0001c0001t0001g0210 a0001c0001t0003g0009 others(7): Show |
10 | 35 | 0.2857 | -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 | a0001c0001t0001g0210 a0001c0005t0002g0235 |
2 | 7 | 0.2857 | -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 | a0001c0003t0001g0149 | 1 | 10 | 0.1000 | -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 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 others(38): Show |
41 | 45 | 0.9111 | -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 | 238 | 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 | 238 | 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 | a0001c0001t0006g0251 a0001c0001t0015g0150 a0001c0001t0015g0250 others(6): Show |
9 | 72 | 0.1250 | -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 | a0001c0001t0002g0051 a0001c0001t0017g0141 a0002c0003t0005g0044 others(2): Show |
5 | 264 | 0.0189 | -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 | a0001c0001t0006g0251 a0001c0001t0006g0259 a0001c0001t0008g0240 others(24): Show |
27 | 264 | 0.1023 | -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 | a0001c0001t0008g0245 | 1 | 259 | 0.0039 | -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 | a0001c0001t0001g0200 a0001c0001t0006g0111 |
2 | 319 | 0.0063 | -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 |
a0008 | a0008c0011 | a0008c0011t0007 | a0008c0011t0007g0040 a0008c0011t0007g0041 |
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 | a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0153 others(4): Show |
8 | 32 | 0.2500 | -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(125): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 others(123): Show |
128 | 358 | 0.3575 | -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 | a0001c0001t0002g0043 a0001c0001t0003g0292 a0001c0001t0003g0326 others(4): Show |
7 | 313 | 0.0224 | -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 | a0001c0001t0002g0039 a0001c0001t0003g0316 a0001c0001t0004g0261 others(2): Show |
5 | 31 | 0.1613 | -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 | a0001c0001t0011g0071 a0001c0001t0011g0072 a0001c0001t0011g0073 others(1): Show |
4 | 15 | 0.2667 | -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 | a0006c0009t0012g0083 a0006c0009t0012g0086 a0006c0013t0012g0085 |
3 | 147 | 0.0204 | -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 |
a0001a0004a0013 | a0001c0001a0004c0003a0013c0026 | a0001c0001t0003a0001c0001t0004a0001c0001t0016others(6): Show | a0001c0001t0003g0269 a0001c0001t0004g0253 a0001c0001t0004g0261 others(23): Show |
26 | 336 | 0.0774 | -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 | a0004c0003t0025g0002 a0004c0003t0026g0001 |
2 | 33 | 0.0606 | -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 | a0001c0001t0088 | a0001c0001t0088g0201 | 1 | 42 | 0.0238 | -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 | a0001c0003t0004g0162 | 1 | 304 | 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 | a0001c0001t0022 | a0001c0001t0022g0091 | 1 | 184 | 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 | a0003c0003t0004g0014 a0003c0003t0004g0015 a0003c0003t0004g0017 others(11): Show |
14 | 101 | 0.1386 | -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 | a0002c0002t0001g0043 | 1 | 442 | 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 | a0001c0001t0001g0146 | 1 | 65 | 0.0154 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0019 others(75): Show |
85 | 150 | 0.5667 | -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 | a0001c0001t0001g0020 a0001c0001t0001g0093 a0001c0001t0001g0110 others(98): Show |
105 | 197 | 0.5330 | -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 | a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0090 others(12): Show |
18 | 57 | 0.3158 | -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 | 446 | 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 | a0001c0001t0002g0325 a0001c0001t0003g0177 a0001c0001t0003g0179 others(11): Show |
14 | 264 | 0.0530 | -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 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0052 | 1 | 442 | 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 | a0001c0001a0004c0006a0005c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0003g0001 a0001c0001t0003g0084 a0001c0001t0004g0001 others(24): Show |
71 | 107 | 0.6636 | -18 | c.415 others(33): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 1993995 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02965.hp2 |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0001a0003c0004t0001 | a0001c0003t0001g0332 a0003c0004t0001g0210 |
2 | 49 | 0.0408 | -18 | c.528 others(33): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 2/8 | chr19 | TogoVar |