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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BPI_chr20_38299156_38342505 | 38321837 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03540.hp2 |
a0024 | a0024c0030 | a0024c0030t0001 | a0024c0030t0001g0231 a0024c0030t0001g0232 |
2 | 426 | 0.0047 | 10 | c.756 others(27): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38339638 | G | GAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01109.hp1 others(17): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0004c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0003others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0267 a0001c0001t0001g0312 others(17): Show |
20 | 426 | 0.0470 | 10 | c.*24 others(21): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 2134 | chr20 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220057034 | A | AACACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 424 | 0.0024 | 10 | c.*18 others(21): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 447 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220078562 | T | TAATATAT others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00639.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0035 others(22): Show |
26 | 424 | 0.0613 | 10 | c.120 others(27): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220082085 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG01433.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0244 a0001c0001t0004g0200 |
2 | 424 | 0.0047 | 10 | c.-8- others(25): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220090949 | T | TATACACA others(3): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0035 a0001c0001t0004g0246 |
2 | 424 | 0.0047 | 10 | c.-12 others(21): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1162 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220090949 | T | TATATACA others(3): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0199 a0001c0001t0004g0314 |
2 | 424 | 0.0047 | 10 | c.-12 others(21): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1162 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220090949 | T | TATATATA others(3): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 NA18980.hp2 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0245 a0001c0001t0004g0315 a0001c0001t0004g0317 others(1): Show |
4 | 424 | 0.0094 | 10 | c.-12 others(21): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1162 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220090949 | T | TATATATA others(3): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 424 | 0.0024 | 10 | c.-12 others(21): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1162 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220093906 | A | AATATATA others(3): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 | 1 | 424 | 0.0024 | 10 | c.-42 others(21): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 4119 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220093908 | A | AATATATA others(3): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0337 | 1 | 424 | 0.0024 | 10 | c.-42 others(21): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 4121 | chr1 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56956044 | A | AATATATA others(3): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0190 | 1 | 356 | 0.0028 | 10 | c.*77 others(21): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1886 | chr8 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56980819 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0029others(1): Show | a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0015 others(16): Show |
37 | 356 | 0.1039 | 10 | c.388 others(25): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56980819 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG01069.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0038 others(14): Show |
29 | 356 | 0.0815 | 10 | c.388 others(25): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56985454 | C | CACCCTGG others(3): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 356 | 0.0028 | 10 | c.388 others(27): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67897341 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0165 a0003c0004t0004g0175 |
2 | 274 | 0.0073 | 10 | c.254 others(29): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67917130 | C | CATTGTCC others(3): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0074 | 1 | 274 | 0.0037 | 10 | c.530 others(29): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | chr17 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67934870 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02109.hp2 others(11): Show |
a0001a0003 | a0001c0003a0001c0005a0003c0035 | a0001c0003t0002a0001c0003t0003a0001c0005t0005others(1): Show | a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0003g0084 others(11): Show |
14 | 274 | 0.0511 | 10 | c.625 others(29): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67981866 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG01109.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0003t0002a0001c0005t0005others(6): Show | a0001c0001t0001g0160 a0001c0001t0001g0179 a0001c0003t0002g0087 others(18): Show |
21 | 274 | 0.0766 | 10 | c.872 others(27): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140787300 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0134 | 1 | 190 | 0.0053 | 10 | c.117 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 9/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140798262 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0003 a0001c0001t0013g0002 |
2 | 190 | 0.0105 | 10 | c.980 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 7/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140812159 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 190 | 0.0053 | 10 | c.505 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 3/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140812160 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 a0001c0001t0002g0157 |
2 | 190 | 0.0105 | 10 | c.505 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 3/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140884429 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02976.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0131 a0001c0001t0006g0139 |
2 | 190 | 0.0105 | 10 | c.139 others(29): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140906087 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01168.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0174 a0001c0001t0004g0171 a0001c0001t0004g0172 others(7): Show |
10 | 190 | 0.0526 | 10 | c.138 others(29): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140914964 | C | CGGGGGGG others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0025 | a0001c0001t0004g0172 a0001c0001t0025g0162 |
2 | 190 | 0.0105 | 10 | c.138 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140787300 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0139 | 1 | 196 | 0.0051 | 10 | c.117 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 9/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140798262 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0002 a0001c0001t0013g0003 |
2 | 196 | 0.0102 | 10 | c.980 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 7/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140812159 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 196 | 0.0051 | 10 | c.505 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 3/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140812160 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0055 | a0001c0001t0002g0099 a0001c0001t0055g0162 |
2 | 196 | 0.0102 | 10 | c.505 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 3/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140884429 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02976.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0038 | a0001c0001t0003g0144 a0001c0001t0038g0135 |
2 | 196 | 0.0102 | 10 | c.139 others(29): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140906087 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01168.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0004g0168 a0001c0001t0004g0176 a0001c0001t0004g0179 others(7): Show |
10 | 196 | 0.0510 | 10 | c.138 others(29): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140914964 | C | CGGGGGGG others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0167 a0001c0001t0009g0177 |
2 | 196 | 0.0102 | 10 | c.138 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
BRAP_chr12_111637146_111690956 | 111690780 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0226 | 1 | 364 | 0.0028 | 10 | c.-49 others(21): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 4825 | chr12 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2533376 | A | ATATTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 HG02148.hp1 HG02818.hp2 others(12): Show |
a0001a0002a0018 | a0001c0002a0002c0004a0018c0032 | a0001c0002t0003a0002c0004t0001a0018c0032t0001 | a0001c0002t0003g0011 a0001c0002t0003g0087 a0001c0002t0003g0090 others(9): Show |
15 | 424 | 0.0354 | 10 | c.*46 others(21): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4433 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2544200 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 NA18942.hp2 NA19000.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0115 a0002c0004t0001g0328 a0002c0004t0001g0334 |
3 | 424 | 0.0071 | 10 | c.431 others(25): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2545363 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01099.hp1 HG01255.hp2 others(5): Show |
a0002a0003 | a0002c0004a0003c0005a0003c0021 | a0002c0004t0001a0003c0005t0002a0003c0021t0002 | a0002c0004t0001g0338 a0003c0005t0002g0042 a0003c0005t0002g0043 others(5): Show |
8 | 424 | 0.0189 | 10 | c.283 others(25): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552106 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG03239.hp2 others(4): Show |
a0001 | a0001c0002a0001c0030 | a0001c0002t0001a0001c0002t0003a0001c0030t0003 | a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0115 others(3): Show |
7 | 424 | 0.0165 | 10 | c.127 others(27): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552106 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0063 | 1 | 424 | 0.0024 | 10 | c.127 others(27): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552106 | A | ATATATTT others(3): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 a0001c0002t0001g0112 |
2 | 424 | 0.0047 | 10 | c.127 others(27): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43052780 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0145 | 1 | 276 | 0.0036 | 10 | c.527 others(29): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43086109 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02809.hp1 HG03669.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0172 a0001c0001t0001g0186 others(5): Show |
8 | 276 | 0.0290 | 10 | c.418 others(29): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43096376 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(86): Show |
a0001a0004a0007others(5): Show | a0001c0001a0001c0028a0004c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(9): Show | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(86): Show |
89 | 276 | 0.3225 | 10 | c.594 others(25): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43096386 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 276 | 0.0036 | 10 | c.594 others(25): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100655 | A | ATATATGT others(3): Show |
intron_variant | MODIFIER | HG02602.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0232 a0001c0001t0013g0205 |
2 | 276 | 0.0073 | 10 | c.442 others(25): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43102357 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0025 | a0025c0029 | a0025c0029t0001 | a0025c0029t0001g0183 | 1 | 276 | 0.0036 | 10 | c.441 others(27): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRD1_chr22_49768283_49832873 | 49775968 | C | CCCGCAGC others(3): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 258 | 0.0039 | 10 | c.323 others(25): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 11/12 | chr22 | TogoVar | |||||||
BRD1_chr22_49768283_49832873 | 49832717 | A | AACACACA others(3): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG02622.hp1 NA18522.hp2 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0007 | a0001c0001t0002a0002c0003t0003a0003c0007t0006 | a0001c0001t0002g0105 a0002c0003t0003g0230 a0003c0007t0006g0004 |
3 | 258 | 0.0116 | 10 | c.-52 others(21): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 4845 | chr22 | TogoVar | |||||||
BRD1_chr22_49768283_49832873 | 49832723 | C | CACACACA others(3): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 258 | 0.0039 | 10 | c.-52 others(21): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 4851 | chr22 | TogoVar | |||||||
BRD1_chr22_49768283_49832873 | 49832764 | A | ACACACAC others(3): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 258 | 0.0039 | 10 | c.-52 others(21): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 4892 | chr22 | TogoVar |