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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BPIFA3_chr20_33212352_33232806 | 33222554 | A | AGATGGAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01433.hp1 HG02559.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0082 a0001c0001t0001g0089 a0002c0002t0001g0038 others(1): Show |
5 | 275 | 0.0182 | 8 | c.128 others(25): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFA3_chr20_33212352_33232806 | 33222635 | A | AATGGATG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG02027.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0089 a0002c0002t0001g0095 |
13 | 233 | 0.0558 | 8 | c.128 others(25): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFA3_chr20_33212352_33232806 | 33231141 | A | AGAAGGAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(31): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0016 others(12): Show |
34 | 219 | 0.1553 | 8 | c.*35 others(19): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3336 | chr20 | TogoVar | |||||||
BPIFA3_chr20_33212352_33232806 | 33231182 | G | GAAGGAAG others(1): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG00738.hp2 HG01167.hp1 others(18): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0002 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0016 others(11): Show |
21 | 317 | 0.0662 | 8 | c.*35 others(19): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3377 | chr20 | TogoVar | |||||||
BPIFA3_chr20_33212352_33232806 | 33231201 | G | GGAAAGAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01099.hp1 others(10): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0016 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(6): Show |
13 | 386 | 0.0337 | 8 | c.*35 others(19): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3396 | chr20 | TogoVar | |||||||
BPIFB3_chr20_33048903_33078847 | 33052540 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01978.hp1 HG03540.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(1): Show |
5 | 292 | 0.0171 | 8 | c.-14 others(19): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1362 | chr20 | TogoVar | |||||||
BPIFB3_chr20_33048903_33078847 | 33052546 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG01952.hp1 HG02155.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0020 a0001c0001t0001g0027 a0002c0002t0001g0002 others(2): Show |
9 | 145 | 0.0621 | 8 | c.-14 others(19): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1356 | chr20 | TogoVar | |||||||
BPIFB3_chr20_33048903_33078847 | 33074649 | C | CCCATCCA others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02615.hp1 HG02615.hp2 others(6): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0012 | a0001c0001t0001a0002c0002t0001a0006c0012t0001 | a0001c0001t0001g0032 a0002c0002t0001g0011 a0002c0002t0001g0045 others(4): Show |
9 | 134 | 0.0672 | 8 | c.*10 others(19): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 803 | chr20 | TogoVar | |||||||
BPIFB3_chr20_33048903_33078847 | 33074649 | C | CCCGTCCA others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG02055.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0053 others(7): Show |
19 | 144 | 0.1319 | 8 | c.*10 others(19): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 803 | chr20 | TogoVar | |||||||
BPIFB4_chr20_33074643_33116751 | 33074649 | C | CCCATCCA others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02615.hp1 HG02615.hp2 others(7): Show |
a0004a0005a0006others(1): Show | a0004c0004a0005c0005a0006c0006others(1): Show | a0004c0004t0001a0005c0005t0001a0006c0006t0001others(1): Show | a0004c0004t0001g0070 a0005c0005t0001g0007 a0005c0005t0001g0052 others(5): Show |
10 | 134 | 0.0746 | 8 | c.-51 others(19): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 4993 | chr20 | TogoVar | |||||||
BPIFB4_chr20_33074643_33116751 | 33074649 | C | CCCGTCCA others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG01175.hp1 others(23): Show |
a0001a0011 | a0001c0001a0011c0022 | a0001c0001t0001a0011c0022t0001 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(18): Show |
26 | 150 | 0.1733 | 8 | c.-51 others(19): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 4993 | chr20 | TogoVar | |||||||
BPIFB4_chr20_33074643_33116751 | 33087753 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG03139.hp1 |
a0001a0011 | a0001c0001a0011c0022 | a0001c0001t0001a0011c0022t0001 | a0001c0001t0001g0130 a0001c0001t0001g0240 a0011c0022t0001g0178 |
3 | 83 | 0.0361 | 8 | c.927 others(25): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33107221 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(135): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0013a0002c0002others(6): Show | a0001c0001t0001a0001c0013t0001a0002c0002t0001others(8): Show | a0001c0001t0001g0060 a0001c0001t0001g0220 a0001c0013t0001g0227 others(104): Show |
138 | 333 | 0.4144 | 8 | c.174 others(25): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB6_chr20_33026648_33049047 | 33048740 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 HG03927.hp2 NA18976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0014 |
4 | 180 | 0.0222 | 8 | c.*46 others(19): Show |
BPIFB6 | ENSG00000167104.11 | transcript | ENST00000349552.1 | protein_coding | 4694 | chr20 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32423577 | G | GGGGTGTG others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG02145.hp1 others(3): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0001a0004c0004t0002 | a0001c0001t0001g0133 a0001c0001t0001g0202 a0001c0001t0001g0288 others(3): Show |
6 | 169 | 0.0355 | 8 | c.121 others(27): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32423577 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01074.hp1 others(8): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0003others(3): Show | a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0209 others(8): Show |
11 | 174 | 0.0632 | 8 | c.121 others(27): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32457559 | G | GTCCATCC others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02486.hp2 HG02559.hp2 others(6): Show |
a0001a0003a0007others(5): Show | a0001c0001a0003c0003a0007c0007others(5): Show | a0001c0001t0001a0003c0003t0001a0007c0007t0002others(5): Show | a0001c0001t0001g0021 a0003c0003t0001g0308 a0007c0007t0002g0305 others(6): Show |
9 | 242 | 0.0372 | 8 | c.1-1 others(19): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 2/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32464646 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01243.hp2 others(20): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(9): Show | a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0083 others(20): Show |
23 | 154 | 0.1494 | 8 | c.-36 others(17): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 201 | chr22 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38320661 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(69): Show |
a0002a0004a0006others(13): Show | a0002c0002a0002c0011a0004c0004others(15): Show | a0002c0002t0001a0002c0002t0002a0002c0011t0001others(20): Show | a0002c0002t0001g0018 a0002c0002t0001g0063 a0002c0002t0001g0071 others(59): Show |
72 | 181 | 0.3978 | 8 | c.756 others(23): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38321141 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | NA18984.hp1 NA19090.hp2 NA20805.hp1 |
a0002a0006a0008 | a0002c0011a0006c0005a0008c0009 | a0002c0011t0001a0006c0005t0003a0008c0009t0001 | a0002c0011t0001g0197 a0006c0005t0003g0283 a0008c0009t0001g0091 |
3 | 159 | 0.0189 | 8 | c.756 others(23): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38321837 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02027.hp2 HG03834.hp2 |
a0007a0034 | a0007c0007a0034c0054 | a0007c0007t0001a0034c0054t0001 | a0007c0007t0001g0207 a0007c0007t0001g0215 a0034c0054t0001g0268 |
3 | 392 | 0.0077 | 8 | c.756 others(25): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38329008 | A | AATAAATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(75): Show |
a0001a0002a0004others(13): Show | a0001c0001a0002c0002a0004c0004others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(26): Show | a0001c0001t0001g0298 a0001c0001t0001g0312 a0001c0001t0003g0335 others(64): Show |
78 | 424 | 0.1840 | 8 | c.122 others(27): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38339638 | G | GAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp2 others(48): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0011others(15): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(16): Show | a0001c0001t0001g0013 a0001c0001t0001g0253 a0001c0001t0001g0257 others(46): Show |
51 | 97 | 0.5258 | 8 | c.*24 others(19): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 2134 | chr20 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220090949 | T | TATACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG03491.hp1 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0199 a0001c0001t0001g0205 |
3 | 290 | 0.0103 | 8 | c.-12 others(19): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1162 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220090949 | T | TATATACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0004 a0001c0001t0004g0207 a0001c0001t0004g0249 others(7): Show |
11 | 298 | 0.0369 | 8 | c.-12 others(19): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1162 | chr1 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56980819 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01192.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0025 a0001c0001t0001g0101 a0001c0001t0003g0228 others(6): Show |
11 | 91 | 0.1209 | 8 | c.388 others(23): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56996295 | G | GCAAGTAA others(1): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02717.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0027others(2): Show | a0001c0001t0001g0048 a0001c0001t0009g0017 a0001c0001t0009g0018 others(3): Show |
8 | 354 | 0.0226 | 8 | c.-27 others(19): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 2429 | chr8 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67873992 | C | CTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01071.hp2 others(12): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0002a0003c0004t0004 | a0002c0002t0002g0194 a0002c0002t0002g0246 a0002c0002t0002g0271 others(11): Show |
15 | 158 | 0.0949 | 8 | c.166 others(25): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67934870 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(8): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0001 a0003c0004t0004g0166 a0003c0004t0004g0167 others(7): Show |
11 | 15 | 0.7333 | 8 | c.625 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(58): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0015others(9): Show | a0001c0001t0001a0001c0005t0005a0001c0015t0001others(9): Show | a0001c0001t0001g0056 a0001c0001t0001g0109 a0001c0001t0001g0111 others(57): Show |
61 | 82 | 0.7439 | 8 | c.872 others(25): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140872216 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02683.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0009 | a0001c0001t0001g0093 a0001c0001t0001g0131 a0001c0001t0001g0145 others(4): Show |
7 | 91 | 0.0769 | 8 | c.139 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140883014 | G | GTAAATAA others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02572.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0001t0017others(1): Show | a0001c0001t0006g0132 a0001c0001t0009g0115 a0001c0001t0017g0151 others(1): Show |
4 | 146 | 0.0274 | 8 | c.139 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140884429 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03654.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0140 a0001c0002t0001g0078 |
2 | 49 | 0.0408 | 8 | c.139 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140872216 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02683.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0036a0001c0001t0038others(3): Show | a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0036g0097 others(4): Show |
7 | 94 | 0.0745 | 8 | c.139 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140883014 | G | GTAAATAA others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02572.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0031a0001c0001t0032others(1): Show | a0001c0001t0008g0136 a0001c0001t0031g0156 a0001c0001t0032g0119 others(1): Show |
4 | 151 | 0.0265 | 8 | c.139 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140884429 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03654.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0002t0007 | a0001c0001t0024g0145 a0001c0002t0007g0081 |
2 | 50 | 0.0400 | 8 | c.139 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2533376 | A | ATATTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG01074.hp2 HG01257.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0024a0002c0004 | a0001c0002t0003a0001c0024t0003a0002c0004t0001 | a0001c0002t0003g0012 a0001c0024t0003g0092 a0002c0004t0001g0052 others(4): Show |
7 | 210 | 0.0333 | 8 | c.*46 others(19): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4433 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2544200 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01071.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0010a0002c0004others(2): Show | a0001c0002t0001a0001c0010t0004a0002c0004t0001others(2): Show | a0001c0002t0001g0076 a0001c0010t0004g0287 a0002c0004t0001g0051 others(14): Show |
22 | 148 | 0.1486 | 8 | c.431 others(23): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2545363 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00733.hp2 others(35): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0004a0003c0005others(2): Show | a0001c0002t0003a0002c0004t0001a0003c0005t0002others(2): Show | a0001c0002t0003g0023 a0001c0002t0003g0253 a0002c0004t0001g0001 others(24): Show |
38 | 220 | 0.1727 | 8 | c.283 others(23): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2545496 | C | CTTCTTTT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01243.hp1 others(58): Show |
a0001a0002a0005others(2): Show | a0001c0002a0002c0004a0005c0006others(2): Show | a0001c0002t0003a0002c0004t0001a0005c0006t0001others(2): Show | a0001c0002t0003g0023 a0001c0002t0003g0253 a0002c0004t0001g0001 others(32): Show |
61 | 268 | 0.2276 | 8 | c.283 others(23): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2545496 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02258.hp1 HG02280.hp1 others(17): Show |
a0001a0007a0009others(1): Show | a0001c0002a0007c0017a0007c0033others(2): Show | a0001c0002t0001a0007c0017t0001a0007c0033t0001others(2): Show | a0001c0002t0001g0050 a0001c0002t0001g0223 a0001c0002t0001g0224 others(15): Show |
20 | 227 | 0.0881 | 8 | c.283 others(23): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43086109 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp2 others(37): Show |
a0001a0003a0007others(2): Show | a0001c0001a0003c0003a0007c0008others(2): Show | a0001c0001t0001a0001c0001t0012a0003c0003t0002others(5): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(37): Show |
40 | 115 | 0.3478 | 8 | c.418 others(27): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100655 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00639.hp2 others(14): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0022t0001 | a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0182 others(14): Show |
17 | 225 | 0.0756 | 8 | c.442 others(23): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43102357 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(81): Show |
a0001a0004a0007others(3): Show | a0001c0001a0001c0022a0001c0024others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(8): Show | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(81): Show |
84 | 175 | 0.4800 | 8 | c.441 others(25): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRD1_chr22_49768283_49832873 | 49803233 | G | GCCACCGC others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03139.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 |
3 | 256 | 0.0117 | 8 | c.152 others(25): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 3/12 | chr22 | TogoVar | |||||||
BRD1_chr22_49768283_49832873 | 49832717 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG01975.hp2 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0092 a0001c0001t0002g0128 a0001c0001t0010g0076 others(1): Show |
4 | 54 | 0.0741 | 8 | c.-52 others(19): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 4845 | chr22 | TogoVar | |||||||
BRD2_chr6_32963594_32986501 | 32964843 | A | AAAACAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(245): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(53): Show | a0001c0001t0001g0056 a0001c0001t0003g0001 a0001c0001t0003g0017 others(96): Show |
248 | 451 | 0.5499 | 8 | c.-55 others(19): Show |
BRD2 | ENSG00000204256.14 | transcript | ENST00000374825.9 | protein_coding | 3750 | chr6 | TogoVar | |||||||
BRD3_chr9_134025305_134073026 | 134055047 | G | GGTGCCTC others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02004.hp2 HG02145.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0017a0001c0002t0019a0001c0002t0020others(9): Show | a0001c0002t0017g0008 a0001c0002t0017g0094 a0001c0002t0019g0030 others(16): Show |
22 | 332 | 0.0663 | 8 | c.-11 others(27): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
BRD3_chr9_134025305_134073026 | 134060587 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01106.hp1 others(14): Show |
a0001a0005 | a0001c0002a0001c0005a0001c0018others(1): Show | a0001c0002t0005a0001c0002t0022a0001c0002t0028others(9): Show | a0001c0002t0005g0089 a0001c0002t0022g0212 a0001c0002t0028g0091 others(12): Show |
17 | 206 | 0.0825 | 8 | c.-11 others(27): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
BRD4_chr19_15230519_15337539 | 15323178 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02896.hp2 HG02922.hp2 others(3): Show |
a0001a0002 | a0001c0004a0001c0010a0002c0007 | a0001c0004t0042a0001c0004t0044a0001c0004t0060others(3): Show | a0001c0004t0042g0023 a0001c0004t0044g0019 a0001c0004t0060g0105 others(3): Show |
6 | 62 | 0.0968 | 8 | c.-35 others(25): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar |