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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BPTF_chr17_67820503_67989378 | 67870766 | C | CTTT | intron_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02071.hp2 others(11): Show |
a0001a0003a0014 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(4): Show | a0001c0001t0001g0063a0001c0001t0001g0066a0001c0001t0001g0068others(11): Show | 14 | 274 | 0.0511 | 3 | c.166 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67883316 | A | AAAT | intron_variant | MODIFIER | HG02293.hp2 HG02895.hp2 HG02896.hp2 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0005a0002c0002t0002 | a0001c0005t0005g0268a0001c0005t0005g0269a0002c0002t0002g0253 | 3 | 274 | 0.0110 | 3 | c.186 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67916765 | C | CAAA | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0003 | a0001c0003t0002g0087a0001c0003t0002g0088a0001c0003t0003g0086others(4): Show | 7 | 274 | 0.0256 | 3 | c.530 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67919173 | A | AAAT | intron_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG02015.hp2 others(17): Show |
a0001a0011 | a0001c0001a0001c0013a0011c0019 | a0001c0001t0001a0001c0013t0001a0011c0019t0001 | a0001c0001t0001g0019a0001c0001t0001g0039a0001c0001t0001g0040others(17): Show | 20 | 274 | 0.0730 | 3 | c.542 others(20): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67919218 | T | TAAA | intron_variant | MODIFIER | HG01978.hp2 HG02148.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0070a0001c0001t0001g0114a0001c0003t0003g0092others(1): Show | 4 | 274 | 0.0146 | 3 | c.542 others(20): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67934870 | C | CAAA | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01256.hp1 others(16): Show |
a0001a0002a0006 | a0001c0001a0001c0032a0002c0002others(1): Show | a0001c0001t0001a0001c0032t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0152a0001c0032t0002g0007a0002c0002t0002g0185others(16): Show | 19 | 274 | 0.0693 | 3 | c.625 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67944924 | A | AGTG | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(231): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0013a0001c0015others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0017others(231): Show | 234 | 274 | 0.8540 | 3 | c.670 others(20): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 20/27 | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67952054 | C | CAAA | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(38): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0024a0002c0002others(2): Show | a0001c0001t0001a0001c0024t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0053a0001c0001t0001g0062a0001c0001t0001g0066others(38): Show | 41 | 274 | 0.1496 | 3 | c.792 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67955277 | C | CAAA | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp2 HG02818.hp1 others(3): Show |
a0001a0003 | a0001c0005a0003c0004 | a0001c0005t0005a0003c0004t0004 | a0001c0005t0005g0099a0001c0005t0005g0265a0001c0005t0005g0266others(3): Show | 6 | 274 | 0.0219 | 3 | c.792 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67956318 | C | CAAA | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00741.hp1 others(24): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(24): Show | 27 | 274 | 0.0985 | 3 | c.792 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67976695 | A | AAAT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(109): Show |
a0001a0010a0011 | a0001c0001a0001c0013a0001c0015others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0017others(109): Show | 112 | 274 | 0.4088 | 3 | c.872 others(20): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BRAF_chr7_140714337_140929929 | 140727180 | T | TTTC | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(107): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0093a0001c0001t0001g0111a0001c0001t0001g0116others(107): Show | 110 | 190 | 0.5790 | 3 | c.240 others(20): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 19/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140770527 | C | CAAA | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp2 HG02145.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0118others(23): Show | 26 | 190 | 0.1368 | 3 | c.181 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 14/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140772268 | T | TAAC | intron_variant | MODIFIER | HG02683.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090a0001c0001t0002g0100 | 2 | 190 | 0.0105 | 3 | c.181 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 14/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140772272 | T | TACA | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG01175.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0118a0001c0001t0001g0138a0001c0001t0001g0147others(24): Show | 27 | 190 | 0.1421 | 3 | c.181 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 14/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140906087 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG01952.hp2 HG02109.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0111a0001c0001t0001g0116a0001c0001t0001g0117others(18): Show | 21 | 190 | 0.1105 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140909809 | A | AAAC | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00673.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0013a0001c0001t0016others(3): Show | a0001c0001t0007g0003a0001c0001t0013g0002a0001c0001t0016g0151others(10): Show | 13 | 190 | 0.0684 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140909842 | C | CAAA | intron_variant | MODIFIER | HG00609.hp1 HG03239.hp1 NA18612.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0090a0001c0003t0002g0096a0001c0003t0002g0097 | 3 | 190 | 0.0158 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140913469 | C | CTTT | intron_variant | MODIFIER | HG00639.hp2 HG02897.hp1 HG03486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(1): Show | a0001c0001t0001g0145a0001c0002t0001g0010a0001c0002t0001g0029others(6): Show | 9 | 190 | 0.0474 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140727180 | T | TTTC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(111): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0002g0090a0001c0001t0002g0091a0001c0001t0002g0093others(111): Show | 114 | 196 | 0.5816 | 3 | c.*74 others(14): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 3484 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140770527 | C | CAAA | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02145.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0003a0001c0001t0013a0001c0001t0016others(9): Show | a0001c0001t0003g0116a0001c0001t0003g0117a0001c0001t0003g0122others(23): Show | 26 | 196 | 0.1327 | 3 | c.169 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 13/17 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140772268 | T | TAAC | intron_variant | MODIFIER | HG02683.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093a0001c0001t0002g0104 | 2 | 196 | 0.0102 | 3 | c.169 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 13/17 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140772272 | T | TACA | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG01175.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0095a0001c0001t0002g0096a0001c0001t0002g0099others(26): Show | 29 | 196 | 0.1480 | 3 | c.169 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 13/17 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140906087 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG01952.hp2 HG02109.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(4): Show | a0001c0001t0002g0094a0001c0001t0003g0116a0001c0001t0003g0117others(18): Show | 21 | 196 | 0.1071 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140909809 | A | AAAC | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00673.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0031a0001c0002t0001others(6): Show | a0001c0001t0013g0002a0001c0001t0013g0003a0001c0001t0031g0156others(11): Show | 14 | 196 | 0.0714 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140909842 | C | CAAA | intron_variant | MODIFIER | HG00609.hp2 HG03239.hp1 NA18612.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0093a0001c0003t0002g0100a0001c0003t0002g0101 | 3 | 196 | 0.0153 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140913469 | C | CTTT | intron_variant | MODIFIER | HG00639.hp2 HG02897.hp2 HG03486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0052a0001c0002t0001a0001c0002t0007others(2): Show | a0001c0001t0052g0150a0001c0002t0001g0030a0001c0002t0001g0059others(6): Show | 9 | 196 | 0.0459 | 3 | c.138 others(22): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
BRAP_chr12_111637146_111690956 | 111641759 | C | CTTT | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0060a0001c0001t0001g0062others(3): Show | 7 | 364 | 0.0192 | 3 | c.*24 others(14): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 386 | chr12 | TogoVar | ||||||
BRAP_chr12_111637146_111690956 | 111651218 | A | ATAT | intron_variant | MODIFIER | HG01943.hp2 HG02257.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0228a0001c0003t0002g0229a0001c0003t0002g0230others(5): Show | 8 | 364 | 0.0220 | 3 | c.131 others(22): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 10/11 | chr12 | TogoVar | ||||||
BRAP_chr12_111637146_111690956 | 111651225 | T | TTAA | intron_variant | MODIFIER | HG02622.hp1 HG02897.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0052a0001c0001t0001g0053others(2): Show | 5 | 364 | 0.0137 | 3 | c.131 others(22): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 10/11 | chr12 | TogoVar | ||||||
BRAP_chr12_111637146_111690956 | 111651635 | C | CTTT | intron_variant | MODIFIER | HG01943.hp2 HG02257.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0229a0001c0003t0002g0230a0001c0003t0002g0231others(4): Show | 7 | 364 | 0.0192 | 3 | c.131 others(22): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 10/11 | chr12 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2545496 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00738.hp2 others(70): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0012others(7): Show | a0001c0001t0007a0001c0002t0001a0001c0002t0003others(8): Show | a0001c0001t0007g0382a0001c0002t0001g0002a0001c0002t0001g0008others(60): Show | 73 | 424 | 0.1722 | 3 | c.283 others(18): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3/13 | chr7 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2552107 | T | TATA | intron_variant | MODIFIER | HG02818.hp2 HG06807.hp1 NA18953.hp1 others(2): Show |
a0001a0013 | a0001c0001a0001c0003a0013c0026 | a0001c0001t0001a0001c0003t0001a0013c0026t0001 | a0001c0001t0001g0238a0001c0001t0001g0265a0001c0001t0001g0295others(2): Show | 5 | 424 | 0.0118 | 3 | c.127 others(20): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2556079 | T | TAAA | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01255.hp2 HG01346.hp2 others(9): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0002 | a0001c0002t0001g0012a0001c0002t0001g0112a0003c0005t0002g0007others(8): Show | 12 | 424 | 0.0283 | 3 | c.-61 others(12): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 556 | chr7 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43058019 | C | CAAA | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02895.hp2 others(3): Show |
a0003a0006a0012others(1): Show | a0003c0003a0006c0009a0006c0026others(2): Show | a0003c0003t0003a0006c0009t0005a0006c0026t0005others(2): Show | a0003c0003t0003g0128a0006c0009t0005g0273a0006c0009t0005g0274others(3): Show | 6 | 276 | 0.0217 | 3 | c.519 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43059469 | C | CACA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(74): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(15): Show | a0001c0001t0001g0107a0001c0001t0001g0167a0001c0001t0001g0168others(74): Show | 77 | 276 | 0.2790 | 3 | c.519 others(22): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43067836 | A | ATTT | intron_variant | MODIFIER | HG01975.hp2 HG02615.hp1 HG02895.hp1 others(5): Show |
a0001a0006a0020 | a0001c0001a0001c0022a0006c0009others(2): Show | a0001c0001t0001a0001c0022t0001a0006c0009t0005others(2): Show | a0001c0001t0001g0184a0001c0001t0001g0203a0001c0001t0001g0233others(5): Show | 8 | 276 | 0.0290 | 3 | c.498 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43067890 | T | TAAA | intron_variant | MODIFIER | HG01361.hp2 HG02257.hp2 HG02615.hp2 others(4): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0006others(1): Show | a0001c0001t0001a0003c0003t0002a0003c0003t0004others(3): Show | a0001c0001t0001g0104a0003c0003t0002g0120a0003c0003t0004g0119others(4): Show | 7 | 276 | 0.0254 | 3 | c.498 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43095105 | A | ACCT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(123): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0022a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(13): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(123): Show | 126 | 276 | 0.4565 | 3 | c.671 others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 9/22 | chr17 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43100632 | T | TACA | intron_variant | MODIFIER | NA18939.hp2 NA18940.hp1 NA18974.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169a0001c0001t0001g0186a0001c0001t0001g0187others(3): Show | 6 | 276 | 0.0217 | 3 | c.442 others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43100632 | T | TATA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(14): Show |
a0001a0004a0014others(1): Show | a0001c0001a0004c0004a0014c0023others(1): Show | a0001c0001t0001a0004c0004t0001a0014c0023t0001others(1): Show | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0171others(14): Show | 17 | 276 | 0.0616 | 3 | c.442 others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43100658 | A | ATGT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp2 others(23): Show |
a0001a0014a0019 | a0001c0001a0014c0023a0019c0027 | a0001c0001t0001a0014c0023t0001a0019c0027t0001 | a0001c0001t0001g0167a0001c0001t0001g0169a0001c0001t0001g0174others(23): Show | 26 | 276 | 0.0942 | 3 | c.442 others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43100690 | T | TAAC | intron_variant | MODIFIER | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
a0006 | a0006c0009a0006c0026 | a0006c0009t0005a0006c0026t0005 | a0006c0009t0005g0273a0006c0009t0005g0274a0006c0026t0005g0275 | 3 | 276 | 0.0109 | 3 | c.442 others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43107062 | A | ATTT | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01109.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0177a0001c0001t0001g0180a0001c0001t0001g0183others(6): Show | 9 | 276 | 0.0326 | 3 | c.135 others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43108706 | C | CAAA | intron_variant | MODIFIER | NA18944.hp1 NA18947.hp2 NA18960.hp2 others(5): Show |
a0001a0013 | a0001c0001a0013c0019 | a0001c0001t0001a0013c0019t0004 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0177others(5): Show | 8 | 276 | 0.0290 | 3 | c.135 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43121683 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(79): Show |
a0001a0004a0007others(3): Show | a0001c0001a0001c0022a0001c0024others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(7): Show | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0169others(79): Show | 82 | 276 | 0.2971 | 3 | c.80+ others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43125988 | G | GTGT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
a0001a0004a0006others(5): Show | a0001c0001a0001c0022a0001c0024others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(11): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(112): Show | 115 | 276 | 0.4167 | 3 | c.-74 others(12): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 625 | chr17 | TogoVar | ||||||
BRCA2_chr13_32310508_32405268 | 32342270 | C | CAAA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01167.hp2 others(43): Show |
a0003a0006a0017 | a0003c0005a0003c0023a0003c0051others(2): Show | a0003c0005t0003a0003c0005t0007a0003c0005t0010others(7): Show | a0003c0005t0003g0008a0003c0005t0003g0022a0003c0005t0003g0028others(40): Show | 46 | 398 | 0.1156 | 3 | c.684 others(22): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BRCA2_chr13_32310508_32405268 | 32365109 | C | CTTT | intron_variant | MODIFIER | HG02698.hp1 HG02818.hp1 HG03540.hp1 others(6): Show |
a0003a0022 | a0003c0005a0003c0023a0022c0041 | a0003c0005t0003a0003c0005t0007a0003c0005t0033others(2): Show | a0003c0005t0003g0040a0003c0005t0003g0044a0003c0005t0003g0048others(5): Show | 9 | 398 | 0.0226 | 3 | c.833 others(22): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BRCA2_chr13_32310508_32405268 | 32388666 | C | CTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(69): Show |
a0001a0002a0008others(6): Show | a0001c0004a0001c0010a0002c0002others(8): Show | a0001c0004t0005a0001c0004t0040a0001c0010t0011others(16): Show | a0001c0004t0005g0111a0001c0004t0040g0108a0001c0010t0011g0014others(63): Show | 72 | 398 | 0.1809 | 3 | c.925 others(22): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |