| geneid | 675 |
|---|---|
| ensemblid | ENSG00000139618.18 |
| hgncid | 1101 |
| symbol | BRCA2 |
| name | BRCA2 DNA repair associated |
| refseq_nuc | NM_000059.4 |
| refseq_prot | NP_000050.3 |
| ensembl_nuc | ENST00000380152.8 |
| ensembl_prot | ENSP00000369497.3 |
| mane_status | MANE Select |
| chr | chr13 |
| start | 32315508 |
| end | 32400268 |
| strand | + |
| ver | v1.2 |
| region | chr13:32315508-32400268 |
| region5000 | chr13:32310508-32405268 |
| regionname0 | BRCA2_chr13_32315508_32400268 |
| regionname5000 | BRCA2_chr13_32310508_32405268 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr13:32319240
|
T | G | 0.0025 | synonymous_variant | LOW | HG03209.hp1 | a0005 | a0005c0024 | a0005c0024t0003 | a0005c0024t0003g0071 | 1 | 398 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 3/27 | c.231T>G | p.Thr77Thr | 430/11954 | 231/10257 | 77/3418 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr13:32399885
|
C | A | 0.9975 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(394): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0003a0001c0004others(48): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(85): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(373): Show | 397 | 398 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 27/27 | c.*1115C>A | 1115 | |||||
|
chr13:32400151
|
T | A | 0.8015 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(316): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0003a0001c0004others(40): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(301): Show | 319 | 398 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 27/27 | c.*1381T>A | 1381 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr13:32315831
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(302): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0003a0001c0004others(31): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(57): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(284): Show | 305 | 398 | 0.7663 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 1/26 | c.-40+164G>A | ||||||
|
chr13:32333776
|
C | T | intron_variant | MODIFIER | HG03209.hp1 | a0005 | a0005c0024 | a0005c0024t0003 | a0005c0024t0003g0071 | 1 | 398 | 0.0025 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 10/26 | c.1909+389C>T | ||||||
|
chr13:32356799
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(393): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0003a0001c0004others(48): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(84): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(372): Show | 396 | 398 | 0.9950 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 15/26 | c.7617+190G>A | ||||||
|
chr13:32364476
|
T | G | intron_variant | MODIFIER | HG03209.hp1 | a0005 | a0005c0024 | a0005c0024t0003 | a0005c0024t0003g0071 | 1 | 398 | 0.0025 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | c.8331+943T>G | ||||||
|
chr13:32365109
|
CTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00609.hp2 others(79): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0003t0014a0001c0003t0036others(21): Show | a0001c0001t0001g0186a0001c0003t0014g0078a0001c0003t0014g0079others(73): Show | 82 | 398 | 0.2060 | -2 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | c.8331+1603_8331+1604delTT | INFO_REALIGN_3_PRIME | |||||
|
chr13:32365721
|
C | CT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(163): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0011others(22): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(154): Show | 166 | 398 | 0.4171 | 1 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | c.8331+2209dupT | INFO_REALIGN_3_PRIME | |||||
|
chr13:32395894
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(70): Show |
a0001a0002a0004others(8): Show | a0001c0003a0001c0011a0001c0033others(11): Show | a0001c0003t0004a0001c0003t0010a0001c0003t0021others(17): Show | a0001c0003t0004g0013a0001c0003t0004g0074a0001c0003t0004g0075others(68): Show | 73 | 398 | 0.1834 | 0 | BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 25/26 | c.9501+961T>C |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 1/0 | a0005 | 3418 | 9 | 7 | 1 | 0 | 0 | 0 | subcellular location copy fasta | chr13 | 32310508 | 32405268 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 0/0 | c0024 | 10257 | 1 | 1 | 0 | 0 | 0 | 0 | copy fasta | chr13 | 32310508 | 32405268 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 0/0 | t0003 | 1698 | 56 | 13 | 15 | 20 | 1 | 7 | copy fasta | chr13 | 32310508 | 32405268 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 0/0 | g0071 | 1 | 1 | 0 | 0 | 0 | 0 | chr13 | 32310508 | 32405268 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 0/0 | a0005c0024 | 1 | 1 | 0 | 0 | 0 | 0 | 10257 | copy fasta | chr13 | 32310508 | 32405268 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 0/0 | a0005c0024t0003 | 1 | 1 | 0 | 0 | 0 | 0 | 11954 | copy fasta | chr13 | 32310508 | 32405268 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | 0/0 | a0005c0024t0003g0071 | 1 | 1 | 0 | 0 | 0 | 0 | chr13 | 32310508 | 32405268 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 32315667 | + | 1 | -0.5705 | -0.5705 | -0.5705 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32316422 | + | 2 | 0.9398 | 0.9398 | 0.9398 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32316527 | + | 2 | -0.9162 | -0.9162 | -0.9162 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32319077 | + | 3 | 0.9788 | 0.9788 | 0.9788 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32319325 | + | 3 | -0.9672 | -0.9672 | -0.9672 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32325076 | + | 4 | 0.9819 | 0.9819 | 0.9819 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32325184 | + | 4 | -0.9933 | -0.9933 | -0.9933 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326101 | + | 5 | 0.9823 | 0.9823 | 0.9823 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326150 | + | 5 | -0.9816 | -0.9816 | -0.9816 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326242 | + | 6 | 0.9794 | 0.9794 | 0.9794 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326282 | + | 6 | -0.9804 | -0.9804 | -0.9804 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326499 | + | 7 | 0.7759 | 0.7759 | 0.7759 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32326613 | + | 7 | -0.8182 | -0.8182 | -0.8182 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32329443 | + | 8 | 0.9952 | 0.9952 | 0.9952 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32329492 | + | 8 | -0.9954 | -0.9954 | -0.9954 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32330919 | + | 9 | 0.9989 | 0.9989 | 0.9989 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32331030 | + | 9 | -0.9987 | -0.9987 | -0.9987 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32332272 | + | 10 | 0.9949 | 0.9949 | 0.9949 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32333387 | + | 10 | -0.9923 | -0.9923 | -0.9923 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32336265 | + | 11 | 0.9852 | 0.9852 | 0.9852 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32341196 | + | 11 | -0.9537 | -0.9537 | -0.9537 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32344558 | + | 12 | 0.9792 | 0.9792 | 0.9792 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32344653 | + | 12 | -0.9532 | -0.9532 | -0.9532 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32346827 | + | 13 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32346896 | + | 13 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32354861 | + | 14 | 0.9684 | 0.9684 | 0.9684 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32355288 | + | 14 | -0.9899 | -0.9899 | -0.9899 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32356428 | + | 15 | 0.9470 | 0.9470 | 0.9470 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32356609 | + | 15 | -0.9778 | -0.9778 | -0.9778 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32357742 | + | 16 | 0.9945 | 0.9945 | 0.9945 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32357929 | + | 16 | -0.9768 | -0.9768 | -0.9768 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32362523 | + | 17 | 0.9672 | 0.9672 | 0.9672 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32362693 | + | 17 | -0.9287 | -0.9287 | -0.9287 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32363179 | + | 18 | 0.9840 | 0.9839 | 0.9840 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32363533 | + | 18 | -0.9780 | -0.9779 | -0.9780 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32370402 | + | 19 | 0.9882 | 0.9882 | 0.9882 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32370557 | + | 19 | -0.9607 | -0.9607 | -0.9607 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32370956 | + | 20 | 0.9213 | 0.9213 | 0.9213 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32371100 | + | 20 | -0.9857 | -0.9857 | -0.9857 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32376670 | + | 21 | 0.9973 | 0.9972 | 0.9973 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32376791 | + | 21 | -0.9931 | -0.9931 | -0.9931 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32379317 | + | 22 | 0.9898 | 0.9898 | 0.9898 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32379515 | + | 22 | -0.9890 | -0.9890 | -0.9890 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32379750 | + | 23 | 0.8997 | 0.8997 | 0.8997 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32379913 | + | 23 | -0.9329 | -0.9329 | -0.9329 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32380007 | + | 24 | 0.9955 | 0.9955 | 0.9955 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32380145 | + | 24 | -0.9985 | -0.9985 | -0.9985 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32394689 | + | 25 | 0.9970 | 0.9970 | 0.9970 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32394933 | + | 25 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32396898 | + | 26 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32397044 | + | 26 | -0.9971 | -0.9971 | -0.9971 | 0.0000 | acceptor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| 32398162 | + | 27 | 0.9584 | 0.9584 | 0.9584 | 0.0000 | donor | a0005c0024t0003g0071 | HG03209.hp1 | HG03209.hp1 | BRCA2 | chr13 | 32310508 | 32405268 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 32356799:splice 32356799:variant goto | c.7617+190G>A | 264968 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145|MedGen:C3661900 |
+ | 38 | 51 | 87 | 375 | a0001a0002a0003a0004a0005others(33): Show | a0001c0001a0001c0003a0001c0004a0001c0010a0001c0011others(46): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0001t0017others(82): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0058others(370): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(391): Show |
MODIFIER | chr13 | G | A | TogoVar |
| 32315831:splice 32315831:variant goto | c.-40+164G>A | 209930 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145 |
+ | 24 | 34 | 60 | 287 | a0001a0002a0003a0004a0005others(19): Show | a0001c0001a0001c0003a0001c0004a0001c0010a0001c0011others(29): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009a0001c0001t0013a0001c0001t0017others(55): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0057a0001c0001t0001g0058others(282): Show | HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(300): Show |
MODIFIER | chr13 | G | A | TogoVar |
| 32395894:splice 32395894:variant goto | c.9501+961T>C | 209912 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MedGen:C3661900|MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145 |
+ | 11 | 14 | 20 | 71 | a0001a0002a0004a0005a0010others(6): Show | a0001c0003a0001c0011a0001c0033a0002c0002a0004c0006others(9): Show | a0001c0003t0004a0001c0003t0010a0001c0003t0021a0001c0003t0034a0001c0003t0035others(15): Show | a0001c0003t0004g0013a0001c0003t0004g0074a0001c0003t0004g0075a0001c0003t0004g0206a0001c0003t0004g0207others(66): Show | HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00558.hp1 others(68): Show |
MODIFIER | chr13 | T | C | TogoVar |
| 32319240:splice 32319240:variant goto | c.231T>Gp.Thr77Thr | 51269 | Benign | BRCA2:675 | SO:0001819 synonymous_variant |
MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013235 MedGen:C3150546 OMIM:613347 Orphanet:1333|MONDO:MONDO:0008679 MedGen:CN033288 others(30): Show |
+ | 1 | 1 | 1 | 1 | a0005 | a0005c0024 | a0005c0024t0003 | a0005c0024t0003g0071 | HG03209.hp1 | LOW | chr13 | T | G | TogoVar |
| 32333776:splice 32333776:variant goto | c.1909+389C>T | 264961 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145 |
+ | 1 | 1 | 1 | 1 | a0005 | a0005c0024 | a0005c0024t0003 | a0005c0024t0003g0071 | HG03209.hp1 | MODIFIER | chr13 | C | T | TogoVar |
| 32364476:splice 32364476:variant goto | c.8331+943T>G | 264883 | Benign | BRCA2:675 | SO:0001627 intron_variant |
MONDO:MONDO:0012933 MedGen:C2675520 OMIM:612555 Orphanet:145 |
+ | 1 | 1 | 1 | 1 | a0005 | a0005c0024 | a0005c0024t0003 | a0005c0024t0003g0071 | HG03209.hp1 | MODIFIER | chr13 | T | G | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
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ACTHAPIDS acthapids
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ACTGHAPIDS actghapids
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haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|
