| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BPGM_chr7_134641853_134684816 | 134682496 | AGTGTGT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00642.hp2 others(37): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0009a0002c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(23): Show | 40 | 362 | 0.1105 | -6 | c.*34 others(17): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 2681 | chr7 | TogoVar | ||||||
| BPHL_chr6_3113711_3158578 | 3123888 | CAAACTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0013a0001c0005t0002a0001c0005t0005 | a0001c0001t0013g0049a0001c0005t0002g0045a0001c0005t0005g0046others(1): Show | 4 | 350 | 0.0114 | -6 | c.211 others(21): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BPHL_chr6_3113711_3158578 | 3158317 | GGTGTGT | G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp2 others(10): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0036a0001c0001t0001g0067a0001c0001t0001g0217others(10): Show | 13 | 350 | 0.0371 | -6 | c.*57 others(17): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 4740 | chr6 | TogoVar | ||||||
| BPIFA1_chr20_33230996_33248306 | 33237898 | ATGTGTG | A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(81): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(17): Show | 84 | 382 | 0.2199 | -6 | c.160 others(19): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| BPIFB1_chr20_33278214_33314871 | 33279882 | TTCTCTC | T | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02717.hp1 HG03098.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0134a0005c0005t0001g0135a0005c0005t0001g0136 | 3 | 388 | 0.0077 | -6 | c.-34 others(17): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 3331 | chr20 | TogoVar | ||||||
| BPIFB3_chr20_33048903_33078847 | 33052530 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG02572.hp2 HG03516.hp2 HG03540.hp1 others(2): Show |
a0001a0013 | a0001c0001a0001c0005a0013c0017 | a0001c0001t0001a0001c0005t0001a0013c0017t0001 | a0001c0001t0001g0021a0001c0001t0001g0051a0001c0005t0001g0007others(1): Show | 5 | 374 | 0.0134 | -6 | c.-14 others(17): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1372 | chr20 | TogoVar | ||||||
| BPIFB4_chr20_33074643_33116751 | 33087717 | AACACAC | A | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp2 HG02148.hp2 others(9): Show |
a0005a0013a0024 | a0005c0006a0013c0016a0024c0030 | a0005c0006t0001a0013c0016t0001a0024c0030t0001 | a0005c0006t0001g0010a0005c0006t0001g0050a0005c0006t0001g0060others(8): Show | 12 | 344 | 0.0349 | -6 | c.927 others(23): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| BPIFB4_chr20_33074643_33116751 | 33114922 | GCTCTCC | G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01891.hp1 NA19030.hp2 |
a0001a0002a0006 | a0001c0001a0002c0011a0006c0005 | a0001c0001t0001a0002c0011t0001a0006c0005t0001 | a0001c0001t0001g0261a0002c0011t0001g0096a0006c0005t0001g0054 | 3 | 344 | 0.0087 | -6 | c.*34 others(17): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 3172 | chr20 | TogoVar | ||||||
| BPIFC_chr22_32408845_32469446 | 32424642 | CTCTTCT | C | intron_variant | MODIFIER | HG00140.hp2 HG02155.hp2 HG02698.hp2 others(1): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0001a0004c0004t0001a0005c0005t0002 | a0001c0001t0001g0291a0004c0004t0001g0345a0005c0005t0002g0301others(1): Show | 4 | 422 | 0.0095 | -6 | c.121 others(25): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
| BPIFC_chr22_32408845_32469446 | 32428264 | TGTGTGC | T | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01243.hp2 others(40): Show |
a0001a0003a0004others(5): Show | a0001c0001a0003c0003a0004c0004others(6): Show | a0001c0001t0002a0001c0001t0003a0003c0003t0002others(10): Show | a0001c0001t0002g0028a0001c0001t0002g0039a0001c0001t0002g0040others(39): Show | 43 | 422 | 0.1019 | -6 | c.121 others(25): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
| BPIFC_chr22_32408845_32469446 | 32428266 | TGTGCGC | T | intron_variant | MODIFIER | HG02559.hp1 HG03041.hp2 NA18522.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0023a0003c0003t0001g0024a0003c0003t0001g0307others(1): Show | 4 | 422 | 0.0095 | -6 | c.121 others(25): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
| BPIFC_chr22_32408845_32469446 | 32430563 | ATATATT | A | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01243.hp2 others(38): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0004c0004others(5): Show | a0001c0001t0002a0001c0001t0003a0003c0003t0002others(9): Show | a0001c0001t0002g0028a0001c0001t0002g0039a0001c0001t0002g0040others(37): Show | 41 | 422 | 0.0972 | -6 | c.121 others(23): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
| BPIFC_chr22_32408845_32469446 | 32436346 | AGAGGAG | A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02615.hp2 others(5): Show |
a0003a0010a0011 | a0003c0003a0010c0012a0011c0013 | a0003c0003t0001a0003c0003t0003a0010c0012t0001others(1): Show | a0003c0003t0001g0136a0003c0003t0001g0190a0003c0003t0001g0295others(5): Show | 8 | 422 | 0.0190 | -6 | c.748 others(21): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 9/16 | chr22 | TogoVar | ||||||
| BPIFC_chr22_32408845_32469446 | 32436373 | GGAGGAA | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(57): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(7): Show | a0001c0001t0001g0132a0001c0001t0001g0415a0002c0002t0001g0080others(57): Show | 60 | 422 | 0.1422 | -6 | c.748 others(21): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 9/16 | chr22 | TogoVar | ||||||
| BPIFC_chr22_32408845_32469446 | 32436414 | AAGAAGG | A | intron_variant | MODIFIER | HG02818.hp2 HG02895.hp1 HG02897.hp1 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0186a0004c0004t0002g0187a0004c0004t0002g0416 | 3 | 422 | 0.0071 | -6 | c.748 others(21): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 9/16 | chr22 | TogoVar | ||||||
| BPIFC_chr22_32408845_32469446 | 32450093 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG02056.hp2 others(19): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0082a0001c0001t0001g0099others(19): Show | 22 | 422 | 0.0521 | -6 | c.246 others(23): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 4/16 | chr22 | TogoVar | ||||||
| BPI_chr20_38299156_38342505 | 38302460 | CAATAAT | C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02683.hp2 HG02895.hp2 others(3): Show |
a0002a0005a0007others(1): Show | a0002c0002a0005c0018a0007c0007others(1): Show | a0002c0002t0001a0005c0018t0001a0007c0007t0002others(1): Show | a0002c0002t0001g0256a0005c0018t0001g0233a0007c0007t0002g0010others(2): Show | 6 | 426 | 0.0141 | -6 | c.-17 others(17): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 1695 | chr20 | TogoVar | ||||||
| BPI_chr20_38299156_38342505 | 38314850 | AGATGAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(230): Show |
a0001a0003a0004others(19): Show | a0001c0001a0001c0055a0003c0003others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0013a0001c0001t0001g0037a0001c0001t0001g0176others(179): Show | 233 | 426 | 0.5470 | -6 | c.600 others(23): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| BPI_chr20_38299156_38342505 | 38333056 | TCCAACC | T | intron_variant | MODIFIER | NA18954.hp2 NA18980.hp2 NA18985.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0328 | 4 | 426 | 0.0094 | -6 | c.127 others(25): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| BPNT1_chr1_220052482_220094788 | 220057034 | AACACAC | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(119): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0078a0001c0001t0001g0090a0001c0001t0001g0093others(107): Show | 122 | 424 | 0.2877 | -6 | c.*18 others(17): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 447 | chr1 | TogoVar | ||||||
| BPNT1_chr1_220052482_220094788 | 220082085 | TAGAGAG | T | intron_variant | MODIFIER | HG01261.hp1 HG02809.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0260a0001c0001t0001g0329a0001c0001t0009g0208 | 3 | 424 | 0.0071 | -6 | c.-8- others(21): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| BPNT1_chr1_220052482_220094788 | 220089142 | GGAGGAA | G | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009a0001c0002t0001g0032a0001c0002t0001g0033 | 4 | 424 | 0.0094 | -6 | c.-9+ others(19): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| BPNT1_chr1_220052482_220094788 | 220090911 | CATATAT | C | upstream_gene_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG02257.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0048a0001c0001t0001g0049others(21): Show | 25 | 424 | 0.0590 | -6 | c.-12 others(17): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1124 | chr1 | TogoVar | ||||||
| BPNT1_chr1_220052482_220094788 | 220090945 | TATATAC | T | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01934.hp2 HG03688.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0015a0001c0001t0002g0129others(2): Show | 6 | 424 | 0.0142 | -6 | c.-12 others(17): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1158 | chr1 | TogoVar | ||||||
| BPNT2_chr8_56952931_56998867 | 56996193 | AGACTCC | A | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02717.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0027others(2): Show | a0001c0001t0001g0047a0001c0001t0009g0017a0001c0001t0009g0018others(3): Show | 8 | 356 | 0.0225 | -6 | c.-26 others(17): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 2327 | chr8 | TogoVar | ||||||
| BPTF_chr17_67820503_67989378 | 67821301 | ATTTAAT | A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(86): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0005t0005a0002c0002t0002others(7): Show | a0001c0001t0001g0066a0001c0001t0001g0127a0001c0001t0001g0260others(86): Show | 89 | 274 | 0.3248 | -6 | c.-44 others(17): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 4201 | chr17 | TogoVar | ||||||
| BPTF_chr17_67820503_67989378 | 67851708 | CCTTAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(9): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0165a0003c0004t0004g0166a0003c0004t0004g0167others(9): Show | 12 | 274 | 0.0438 | -6 | c.614 others(23): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BPTF_chr17_67820503_67989378 | 67897989 | AAAGAAT | A | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02818.hp1 others(6): Show |
a0001a0008 | a0001c0005a0008c0023 | a0001c0005t0005a0008c0023t0005 | a0001c0005t0005g0099a0001c0005t0005g0100a0001c0005t0005g0265others(6): Show | 9 | 274 | 0.0329 | -6 | c.254 others(25): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BPTF_chr17_67820503_67989378 | 67919173 | AAATAAT | A | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0016others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0003others(6): Show | a0001c0001t0001g0035a0001c0001t0001g0048a0001c0001t0001g0049others(33): Show | 36 | 274 | 0.1314 | -6 | c.542 others(23): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BPTF_chr17_67820503_67989378 | 67954124 | CTACGGG | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(240): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0005a0001c0013others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0017others(240): Show | 243 | 274 | 0.8869 | -6 | c.792 others(25): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BPTF_chr17_67820503_67989378 | 67976710 | AAAAAAT | A | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02818.hp1 others(6): Show |
a0001a0008a0013 | a0001c0005a0008c0023a0013c0025 | a0001c0005t0005a0008c0023t0005a0013c0025t0005 | a0001c0005t0005g0099a0001c0005t0005g0100a0001c0005t0005g0265others(6): Show | 9 | 274 | 0.0329 | -6 | c.872 others(23): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BPTF_chr17_67820503_67989378 | 67981984 | AATATAT | A | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG02698.hp1 others(4): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0026a0001c0003t0003g0084a0001c0003t0003g0085others(4): Show | 7 | 274 | 0.0256 | -6 | c.872 others(23): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BRAF_chr7_140714337_140929929 | 140734814 | GAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0118others(48): Show | 51 | 190 | 0.2684 | -6 | c.224 others(21): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 18/19 | chr7 | TogoVar | ||||||
| BRAF_chr7_140714337_140929929 | 140750458 | TAACAGA | T | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0141a0001c0001t0006g0152 | 2 | 190 | 0.0105 | -6 | c.198 others(25): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 16/19 | chr7 | TogoVar | ||||||
| BRAF_chr7_140714337_140929929 | 140772272 | TACAACA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(76): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(11): Show | a0001c0001t0001g0174a0001c0001t0004g0171a0001c0001t0004g0172others(76): Show | 79 | 190 | 0.4158 | -6 | c.181 others(25): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 14/19 | chr7 | TogoVar | ||||||
| BRAF_chr7_140714337_140929929 | 140778693 | TATAATA | T | intron_variant | MODIFIER | HG03486.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0145 | 2 | 190 | 0.0105 | -6 | c.155 others(23): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 12/19 | chr7 | TogoVar | ||||||
| BRAF_chr7_140714337_140929929 | 140884429 | ATGTGTG | A | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01261.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(2): Show | a0001c0001t0001g0135a0001c0001t0001g0148a0001c0001t0010g0153others(4): Show | 7 | 190 | 0.0368 | -6 | c.139 others(25): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
| BRAF_chr7_140725665_140929929 | 140734814 | GAAAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0103a0001c0001t0002g0111a0001c0001t0003g0116others(48): Show | 51 | 196 | 0.2602 | -6 | c.212 others(21): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 17/17 | chr7 | TogoVar | ||||||
| BRAF_chr7_140725665_140929929 | 140750458 | TAACAGA | T | intron_variant | MODIFIER | HG02615.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146a0001c0001t0003g0157 | 2 | 196 | 0.0102 | -6 | c.186 others(25): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 15/17 | chr7 | TogoVar | ||||||
| BRAF_chr7_140725665_140929929 | 140772272 | TACAACA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(79): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0004a0001c0001t0009a0001c0001t0041others(23): Show | a0001c0001t0004g0176a0001c0001t0004g0179a0001c0001t0004g0180others(79): Show | 82 | 196 | 0.4184 | -6 | c.169 others(25): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 13/17 | chr7 | TogoVar | ||||||
| BRAF_chr7_140725665_140929929 | 140778693 | TATAATA | T | intron_variant | MODIFIER | HG03486.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0052 | a0001c0001t0038g0135a0001c0001t0052g0150 | 2 | 196 | 0.0102 | -6 | c.143 others(23): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 11/17 | chr7 | TogoVar | ||||||
| BRAF_chr7_140725665_140929929 | 140884429 | ATGTGTG | A | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01261.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0008a0001c0001t0026a0001c0001t0044others(3): Show | a0001c0001t0008g0140a0001c0001t0026g0153a0001c0001t0044g0158others(4): Show | 7 | 196 | 0.0357 | -6 | c.139 others(25): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
| BRAP_chr12_111637146_111690956 | 111637890 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG01943.hp2 HG02717.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0228a0001c0003t0002g0229a0001c0003t0002g0230others(4): Show | 7 | 364 | 0.0192 | -6 | c.*63 others(17): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 4255 | chr12 | TogoVar | ||||||
| BRAP_chr12_111637146_111690956 | 111654506 | GGGTTTC | G | intron_variant | MODIFIER | HG01943.hp2 HG02257.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0228a0001c0003t0002g0229a0001c0003t0002g0230others(5): Show | 8 | 364 | 0.0220 | -6 | c.131 others(25): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 10/11 | chr12 | TogoVar | ||||||
| BRAT1_chr7_2532810_2560524 | 2533376 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00741.hp1 others(31): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(5): Show | a0001c0001t0001g0199a0001c0002t0001g0002a0001c0002t0001g0008others(28): Show | 34 | 424 | 0.0802 | -6 | c.*46 others(17): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4433 | chr7 | TogoVar | ||||||
| BRAT1_chr7_2532810_2560524 | 2535305 | CGGAGAG | C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0225a0001c0001t0001g0226 | 3 | 424 | 0.0071 | -6 | c.*27 others(17): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2504 | chr7 | TogoVar | ||||||
| BRAT1_chr7_2532810_2560524 | 2535320 | AGAGGGG | A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01167.hp1 others(38): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0029others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(4): Show | a0001c0001t0001g0199a0001c0001t0001g0224a0001c0002t0001g0002others(34): Show | 41 | 424 | 0.0967 | -6 | c.*27 others(17): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2489 | chr7 | TogoVar | ||||||
| BRAT1_chr7_2532810_2560524 | 2535344 | GGAGGGA | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01884.hp1 others(12): Show |
a0001a0004a0008 | a0001c0002a0004c0007a0004c0013others(3): Show | a0001c0002t0001a0004c0007t0001a0004c0013t0001others(3): Show | a0001c0002t0001g0091a0001c0002t0001g0098a0001c0002t0001g0099others(12): Show | 15 | 424 | 0.0354 | -6 | c.*27 others(17): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2465 | chr7 | TogoVar | ||||||
| BRAT1_chr7_2532810_2560524 | 2559765 | TGGGGGG | T | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02056.hp1 others(26): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0002c0004others(7): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(7): Show | a0001c0001t0001g0139a0001c0001t0001g0141a0001c0001t0001g0163others(26): Show | 29 | 424 | 0.0684 | -6 | c.-43 others(17): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4242 | chr7 | TogoVar | ||||||
| BRCA1_chr17_43039295_43130364 | 43052819 | ACACACT | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(51): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0024a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0013a0001c0024t0001others(8): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(51): Show | 54 | 276 | 0.1957 | -6 | c.527 others(25): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | TogoVar |