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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BPIFB1_chr20_33278214_33314871 | 33288741 | A | G | missense_variant others(1): Show |
MODERATE | HG01109.hp1 HG02486.hp2 HG02622.hp2 others(1): Show |
a0015a0022a0023 | a0015c0016a0022c0026a0023c0025 | a0015c0016t0001a0022c0026t0001a0023c0025t0001 | a0015c0016t0001g0075a0015c0016t0001g0243a0022c0026t0001g0234others(1): Show | 4 | 388 | 0.0103 | 0 | c.116 others(3): Show |
p.Lys others(5): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 3/16 | 198/1641 | 116/1455 | 39/484 | chr20 | TogoVar | ||
BPIFB2_chr20_33002704_33028703 | 33006981 | TCCTTGGG others(856): Show |
T | splice_donor_variant others(4): Show |
HIGH | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 388 | 0.0026 | -863 | c.-81 others(11): Show |
BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 1/16 | chr20 | TogoVar | ||||||
BPIFB2_chr20_33002704_33028703 | 33008689 | C | T | splice_region_variant others(1): Show |
LOW | HG00673.hp2 HG02129.hp2 NA18953.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0155a0001c0001t0002g0046a0001c0001t0002g0154 | 4 | 388 | 0.0103 | 0 | c.109 others(5): Show |
BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 2/15 | chr20 | TogoVar | ||||||
BPIFB2_chr20_33002704_33028703 | 33012913 | C | A | splice_region_variant others(1): Show |
LOW | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 388 | 0.0026 | 0 | c.308 others(5): Show |
BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 4/15 | chr20 | TogoVar | ||||||
BPIFB3_chr20_33048903_33078847 | 33056703 | G | A | splice_region_variant others(1): Show |
LOW | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 374 | 0.0027 | 0 | c.269 others(5): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 3/15 | chr20 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33103022 | C | T | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02257.hp2 HG02723.hp1 others(1): Show |
a0011 | a0011c0012a0011c0022 | a0011c0012t0001a0011c0022t0001 | a0011c0012t0001g0053a0011c0012t0001g0125a0011c0012t0001g0126others(1): Show | 4 | 344 | 0.0116 | 0 | c.168 others(6): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 15/17 | chr20 | TogoVar | ||||||
BPIFB6_chr20_33026648_33049047 | 33036446 | C | A | missense_variant others(1): Show |
MODERATE | HG00741.hp2 HG02630.hp1 HG03098.hp2 others(1): Show |
a0007 | a0007c0008 | a0007c0008t0000 | a0007c0008t0000g0015 | 4 | 384 | 0.0104 | 0 | c.579 others(3): Show |
p.Asp others(6): Show |
BPIFB6 | ENSG00000167104.11 | transcript | ENST00000349552.1 | protein_coding | 7/15 | 579/1362 | 579/1362 | 193/453 | chr20 | TogoVar | ||
BPIFB6_chr20_33026648_33049047 | 33041963 | C | T | splice_region_variant others(1): Show |
LOW | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0083 | 1 | 384 | 0.0026 | 0 | c.114 others(6): Show |
BPIFB6 | ENSG00000167104.11 | transcript | ENST00000349552.1 | protein_coding | 11/14 | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32413845 | T | C | splice_region_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(117): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(11): Show | a0001c0001t0002a0002c0002t0002a0003c0003t0002others(12): Show | a0001c0001t0002g0003a0001c0001t0002g0028a0001c0001t0002g0039others(115): Show | 120 | 422 | 0.2844 | 0 | c.*45 others(4): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 17/17 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32419411 | G | A | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00733.hp2 HG01256.hp2 others(7): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0004a0006c0006t0001g0072a0006c0006t0001g0154others(6): Show | 10 | 422 | 0.0237 | 0 | c.121 others(6): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38310650 | G | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG01070.hp1 HG01071.hp2 others(11): Show |
a0002a0006 | a0002c0011a0006c0043 | a0002c0011t0001a0002c0011t0002a0006c0043t0002 | a0002c0011t0001g0033a0002c0011t0001g0184a0002c0011t0001g0185others(10): Show | 14 | 426 | 0.0329 | 0 | c.534 others(3): Show |
p.Val others(6): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 4/15 | 602/1841 | 534/1452 | 178/483 | chr20 | TogoVar | ||
BPI_chr20_38299156_38342505 | 38318483 | G | T | splice_region_variant others(1): Show |
LOW | HG03704.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0051 | 1 | 426 | 0.0024 | 0 | c.664 others(5): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 6/14 | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38323865 | C | T | splice_region_variant others(1): Show |
LOW | NA19000.hp2 NA19090.hp2 |
a0006a0009 | a0006c0005a0009c0009 | a0006c0005t0003a0009c0009t0001 | a0006c0005t0003g0283a0009c0009t0001g0056 | 2 | 426 | 0.0047 | 0 | c.757 others(5): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 7/14 | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38335600 | A | G | missense_variant others(1): Show |
MODERATE | HG02896.hp2 HG02897.hp1 HG03209.hp2 |
a0024a0034 | a0024c0026a0034c0050 | a0024c0026t0001a0034c0050t0001 | a0024c0026t0001g0024a0034c0050t0001g0288 | 3 | 426 | 0.0070 | 0 | c.133 others(4): Show |
p.Lys others(6): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 14/15 | 1407/1841 | 1339/1452 | 447/483 | chr20 | TogoVar | ||
BPI_chr20_38299156_38342505 | 38337504 | G | A | splice_region_variant | LOW | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(255): Show |
a0001a0002a0003others(28): Show | a0001c0001a0002c0002a0002c0011others(37): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(44): Show | a0001c0001t0001g0013a0001c0001t0001g0037a0001c0001t0001g0176others(218): Show | 258 | 426 | 0.6056 | 0 | c.*32 others(4): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 15/15 | chr20 | TogoVar | ||||||
BPNT1_chr1_220052482_220094788 | 220067392 | A | G | splice_region_variant others(1): Show |
LOW | NA18971.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0196 | 1 | 424 | 0.0024 | 0 | c.384 others(3): Show |
p.Gly others(6): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 6/9 | 495/2400 | 384/927 | 128/308 | chr1 | TogoVar | ||
BPTF_chr17_67820503_67989378 | 67959535 | T | C | splice_region_variant others(1): Show |
LOW | 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 | 0 | c.792 others(6): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 23/27 | chr17 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140734774 | C | CA | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0001g0174a0001c0001t0004g0159a0001c0001t0004g0161others(19): Show | 22 | 190 | 0.1158 | 1 | c.224 others(7): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 18/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140739809 | T | C | splice_region_variant others(1): Show |
LOW | HG02647.hp1 HG02886.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081a0001c0002t0001g0086 | 2 | 190 | 0.0105 | 0 | c.224 others(6): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 18/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140734774 | C | CA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0034others(5): Show | a0001c0001t0004g0167a0001c0001t0004g0168a0001c0001t0004g0170others(19): Show | 22 | 196 | 0.1122 | 1 | c.212 others(7): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 17/17 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140739809 | T | C | splice_region_variant others(1): Show |
LOW | HG02647.hp2 HG02886.hp1 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0012 | a0001c0002t0011g0084a0001c0002t0012g0089 | 2 | 196 | 0.0102 | 0 | c.212 others(6): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 17/17 | chr7 | TogoVar | ||||||
BRAP_chr12_111637146_111690956 | 111659351 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 364 | 0.0028 | 0 | c.973 others(5): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 7/11 | chr12 | TogoVar | ||||||
BRAP_chr12_111637146_111690956 | 111665785 | G | A | splice_region_variant others(1): Show |
LOW | HG01943.hp2 HG02257.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0228a0001c0003t0002g0229a0001c0003t0002g0230others(5): Show | 8 | 364 | 0.0220 | 0 | c.750 others(3): Show |
p.Gly others(6): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 6/12 | 914/3996 | 750/1779 | 250/592 | chr12 | TogoVar | ||
BRAP_chr12_111637146_111690956 | 111683305 | C | T | missense_variant others(1): Show |
MODERATE | HG01496.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0257 | 1 | 364 | 0.0028 | 0 | c.85G others(2): Show |
p.Gly others(5): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 2/12 | 249/3996 | 85/1779 | 29/592 | chr12 | TogoVar | ||
BRAP_chr12_111637146_111690956 | 111683306 | G | A | splice_region_variant others(1): Show |
LOW | HG03453.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0205 | 1 | 364 | 0.0028 | 0 | c.84C others(2): Show |
p.Ala others(5): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 2/12 | 248/3996 | 84/1779 | 28/592 | chr12 | TogoVar | ||
BRAT1_chr7_2532810_2560524 | 2539895 | C | T | splice_region_variant others(1): Show |
LOW | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0321 | 1 | 424 | 0.0024 | 0 | c.139 others(6): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 10/13 | chr7 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2540979 | C | A | splice_region_variant others(1): Show |
LOW | NA18974.hp1 NA19059.hp2 |
a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0064a0001c0014t0001g0065 | 2 | 424 | 0.0047 | 0 | c.139 others(4): Show |
p.Thr others(6): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 10/14 | 1449/2779 | 1395/2466 | 465/821 | chr7 | TogoVar | ||
BRAT1_chr7_2532810_2560524 | 2541492 | G | T | splice_region_variant others(1): Show |
LOW | HG02886.hp1 HG03579.hp1 NA19240.hp1 |
a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0119a0009c0011t0001g0120a0009c0011t0001g0121 | 3 | 424 | 0.0071 | 0 | c.113 others(6): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2555487 | C | A | splice_region_variant | LOW | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0382 | 1 | 424 | 0.0024 | 0 | c.-17 others(3): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43049113 | A | G | splice_region_variant others(1): Show |
LOW | HG03225.hp1 | a0020 | a0020c0013 | a0020c0013t0014 | a0020c0013t0014g0100 | 1 | 276 | 0.0036 | 0 | c.540 others(6): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43124118 | T | C | splice_region_variant others(1): Show |
LOW | HG02683.hp2 | a0019 | a0019c0027 | a0019c0027t0001 | a0019c0027t0001g0269 | 1 | 276 | 0.0036 | 0 | c.-19 others(5): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
BRCA2_chr13_32310508_32405268 | 32336266 | T | C | splice_region_variant others(1): Show |
LOW | HG03486.hp1 | a0035 | a0035c0049 | a0035c0049t0010 | a0035c0049t0010g0342 | 1 | 398 | 0.0025 | 0 | c.191 others(4): Show |
p.Gly others(6): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 11/27 | 2110/11954 | 1911/10257 | 637/3418 | chr13 | TogoVar | ||
BRCA2_chr13_32310508_32405268 | 32370951 | T | C | splice_region_variant others(1): Show |
LOW | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0131 | 1 | 398 | 0.0025 | 0 | c.848 others(6): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 19/26 | chr13 | TogoVar | ||||||
BRCA2_chr13_32310508_32405268 | 32380001 | C | A | splice_region_variant others(1): Show |
LOW | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0064 | 1 | 398 | 0.0025 | 0 | c.911 others(6): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 23/26 | chr13 | TogoVar | ||||||
BRD1_chr22_49768283_49832873 | 49776043 | T | C | splice_region_variant others(1): Show |
LOW | HG03710.hp1 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0241 | 1 | 258 | 0.0039 | 0 | c.323 others(6): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 11/12 | chr22 | TogoVar | ||||||
BRD1_chr22_49768283_49832873 | 49777026 | C | T | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG03688.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0093others(1): Show | 4 | 258 | 0.0155 | 0 | c.312 others(6): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 10/12 | chr22 | TogoVar | ||||||
BRD1_chr22_49768283_49832873 | 49777035 | G | A | splice_region_variant others(1): Show |
LOW | HG03471.hp2 | a0002 | a0002c0017 | a0002c0017t0003 | a0002c0017t0003g0231 | 1 | 258 | 0.0039 | 0 | c.312 others(4): Show |
p.Ala others(7): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 10/13 | 3511/4911 | 3120/3570 | 1040/1189 | chr22 | TogoVar | ||
BRD2_chr6_32963594_32986501 | 32977753 | G | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(461): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(98): Show | a0001c0001t0001g0010a0001c0001t0001g0062a0001c0001t0003g0001others(184): Show | 464 | 469 | 0.9893 | 0 | c.133 others(6): Show |
BRD2 | ENSG00000204256.14 | transcript | ENST00000374825.9 | protein_coding | 8/12 | chr6 | TogoVar | ||||||
BRD2_chr6_32963594_32986501 | 32978110 | GT | G | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02258.hp2 HG02559.hp2 others(11): Show |
a0001a0003 | a0001c0003a0003c0030 | a0001c0003t0001a0003c0030t0001 | a0001c0003t0001g0008a0001c0003t0001g0098a0001c0003t0001g0125others(1): Show | 14 | 469 | 0.0299 | -1 | c.157 others(7): Show |
BRD2 | ENSG00000204256.14 | transcript | ENST00000374825.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BRD3_chr9_134025305_134073026 | 134030304 | C | CT | splice_region_variant | LOW | HG00408.hp2 HG00544.hp1 HG01928.hp2 others(16): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0006a0001c0003t0006a0001c0003t0009others(8): Show | a0001c0002t0006g0211a0001c0003t0006g0004a0001c0003t0006g0005others(14): Show | 19 | 334 | 0.0569 | 1 | c.*32 others(6): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 12/12 | chr9 | TogoVar | ||||||
BRD3_chr9_134025305_134073026 | 134030304 | CT | C | splice_region_variant | LOW | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(40): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0080a0001c0001t0088a0001c0002t0005others(19): Show | a0001c0001t0080g0106a0001c0001t0088g0231a0001c0002t0005g0007others(36): Show | 43 | 334 | 0.1287 | -1 | c.*32 others(6): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 12/12 | chr9 | TogoVar | ||||||
BRD3_chr9_134025305_134073026 | 134030304 | CTT | C | splice_region_variant | LOW | HG01081.hp2 HG01106.hp1 HG01106.hp2 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0012a0001c0001t0034a0001c0001t0077others(26): Show | a0001c0001t0012g0046a0001c0001t0012g0048a0001c0001t0012g0184others(59): Show | 67 | 334 | 0.2006 | -2 | c.*32 others(13): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 12/12 | chr9 | TogoVar | ||||||
BRD3_chr9_134025305_134073026 | 134030304 | CTTT | C | splice_region_variant | LOW | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(90): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(19): Show | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0014others(76): Show | 93 | 334 | 0.2784 | -3 | c.*32 others(14): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 12/12 | chr9 | TogoVar | ||||||
BRD3_chr9_134025305_134073026 | 134034697 | G | GT | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02109.hp1 HG02257.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0023a0001c0005t0064 | a0001c0005t0023g0191a0001c0005t0023g0203a0001c0005t0023g0204others(1): Show | 4 | 334 | 0.0120 | 1 | c.206 others(7): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 11/11 | chr9 | TogoVar | ||||||
BRD3_chr9_134025305_134073026 | 134052448 | G | A | splice_region_variant others(1): Show |
LOW | HG02129.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0169 | 1 | 334 | 0.0030 | 0 | c.214 others(5): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 2/11 | chr9 | TogoVar | ||||||
BRD7_chr16_50310957_50373988 | 50320389 | C | T | missense_variant others(1): Show |
MODERATE | HG03516.hp2 | a0008 | a0008c0007 | a0008c0007t0015 | a0008c0007t0015g0259 | 1 | 402 | 0.0025 | 0 | c.161 others(4): Show |
p.Ala others(6): Show |
BRD7 | ENSG00000166164.17 | transcript | ENST00000394688.8 | protein_coding | 15/17 | 1829/5424 | 1615/1956 | 539/651 | chr16 | TogoVar | ||
BRD7_chr16_50310957_50373988 | 50368304 | AAAAAG | A | splice_region_variant others(1): Show |
LOW | HG01106.hp2 HG01891.hp1 HG02145.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0023a0001c0002t0002a0002c0003t0008others(1): Show | a0001c0001t0023g0273a0001c0002t0002g0360a0002c0003t0008g0021others(4): Show | 8 | 402 | 0.0199 | -5 | c.50- others(15): Show |
BRD7 | ENSG00000166164.17 | transcript | ENST00000394688.8 | protein_coding | 1/16 | chr16 | TogoVar | ||||||
BRD8_chr5_138134770_138183630 | 138150737 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(109): Show |
a0001a0009a0011 | a0001c0002a0001c0006a0009c0014others(1): Show | a0001c0002t0001a0001c0006t0001a0009c0014t0001others(1): Show | a0001c0002t0001g0001a0001c0002t0001g0003a0001c0002t0001g0004others(102): Show | 112 | 378 | 0.2963 | 0 | c.312 others(6): Show |
BRD8 | ENSG00000112983.18 | transcript | ENST00000254900.10 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
BRD8_chr5_138134770_138183630 | 138171415 | TA | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(303): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0011others(289): Show | 306 | 378 | 0.8095 | -1 | c.187 others(6): Show |
BRD8 | ENSG00000112983.18 | transcript | ENST00000254900.10 | protein_coding | 3/26 | chr5 | TogoVar | ||||||
BRD8_chr5_138134770_138183630 | 138171415 | TAA | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00639.hp2 HG00733.hp1 others(53): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0004a0007c0008others(1): Show | a0001c0001t0001a0003c0004t0001a0007c0008t0001others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0135a0001c0001t0001g0144others(52): Show | 56 | 378 | 0.1482 | -2 | c.187 others(13): Show |
BRD8 | ENSG00000112983.18 | transcript | ENST00000254900.10 | protein_coding | 3/26 | chr5 | TogoVar |