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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMPR1B_chr4_94752955_95163448 | 95026098 | A | ATTTCTTT others(25): Show |
intron_variant | MODIFIER | NA18944.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0076 |
2 | 85 | 0.0235 | 32 | c.-18 others(51): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95120610 | T | TTTCCTTC others(25): Show |
intron_variant | MODIFIER | HG03041.hp1 NA19043.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0016a0001c0001t0049 | a0001c0001t0009g0041 a0001c0001t0016g0039 a0001c0001t0049g0020 |
3 | 46 | 0.0652 | 32 | c.350 others(49): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202379838 | T | TTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0010 a0001c0001t0019g0011 |
2 | 194 | 0.0103 | 32 | c.76+ others(47): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202434908 | A | AAAATATA others(25): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051 | 1 | 136 | 0.0074 | 32 | c.77- others(49): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16504270 | A | ATAATACA others(25): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01192.hp1 HG02055.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(12): Show | a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0007g0065 others(17): Show |
20 | 119 | 0.1681 | 32 | c.669 others(51): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16616790 | G | GGGAAGGA others(25): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0041 | 1 | 42 | 0.0238 | 32 | c.331 others(51): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113236286 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0013 | a0001c0013t0027a0001c0013t0032a0001c0013t0038 | a0001c0013t0027g0202 a0001c0013t0027g0203 a0001c0013t0032g0190 others(1): Show |
4 | 378 | 0.0106 | 32 | c.-81 others(51): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241558052 | G | GAAACAGA others(25): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01981.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(1): Show | a0001c0001t0001g0006 a0001c0001t0005g0265 a0001c0001t0017g0086 others(1): Show |
4 | 207 | 0.0193 | 32 | c.-97 others(41): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 692 | chr2 | TogoVar | |||||||
BOLA2B_chr16_30187932_30198666 | 30190179 | T | TATATATT others(25): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 254 | 0.0039 | 32 | c.*27 others(43): Show |
BOLA2B | ENSG00000169627.9 | transcript | ENST00000651894.2 | protein_coding | 2752 | chr16 | TogoVar | |||||||
BOLA2_chr16_29448593_29459351 | 29450836 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 174 | 0.0057 | 32 | c.*27 others(43): Show |
BOLA2 | ENSG00000183336.9 | transcript | ENST00000330978.4 | protein_coding | 2756 | chr16 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144262743 | A | ACACCCCT others(25): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0163 | 1 | 382 | 0.0026 | 32 | c.189 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 13/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144262743 | A | ACACCCCT others(25): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0318 a0001c0003t0001g0154 a0001c0003t0001g0162 others(11): Show |
14 | 395 | 0.0354 | 32 | c.189 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 13/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144262804 | C | CCCCCCCC others(25): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02257.hp2 HG02280.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0055 a0001c0001t0001g0203 a0001c0002t0001g0004 others(13): Show |
17 | 393 | 0.0433 | 32 | c.189 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 13/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144262805 | C | CCCCCCCC others(25): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 1 | 393 | 0.0025 | 32 | c.189 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 13/15 | chr8 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 50 | 0.0200 | 32 | c.-32 others(43): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | |||||||
BPIFA1_chr20_33230996_33248306 | 33231141 | A | AGAAGGAA others(25): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0021 a0001c0001t0004g0074 |
2 | 171 | 0.0117 | 32 | c.-49 others(43): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4854 | chr20 | TogoVar | |||||||
BPIFA3_chr20_33212352_33232806 | 33231141 | A | AGAAGGAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0085 |
2 | 187 | 0.0107 | 32 | c.*35 others(43): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3336 | chr20 | TogoVar | |||||||
BPIFB1_chr20_33278214_33314871 | 33295662 | G | GAGAAAGA others(25): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0251 | 1 | 359 | 0.0028 | 32 | c.598 others(49): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB1_chr20_33278214_33314871 | 33295681 | A | AAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG02630.hp1 NA19030.hp1 |
a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0044 | 2 | 385 | 0.0052 | 32 | c.598 others(49): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 6/15 | chr20 | TogoVar | |||||||
BPIFB4_chr20_33074643_33116751 | 33108423 | C | CTATATAT others(25): Show |
intron_variant | MODIFIER | HG02683.hp2 NA18940.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 a0002c0002t0001g0092 |
2 | 175 | 0.0114 | 32 | c.182 others(49): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38339638 | G | GAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG01891.hp2 HG02486.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 a0002c0002t0001g0052 a0002c0002t0001g0117 |
3 | 49 | 0.0612 | 32 | c.*24 others(43): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 2134 | chr20 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56956044 | A | AATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 NA18945.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0191 |
3 | 24 | 0.1250 | 32 | c.*77 others(43): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1886 | chr8 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67917130 | C | CATTGTCC others(25): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0011 | 1 | 255 | 0.0039 | 32 | c.530 others(51): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | chr17 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67917131 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0012 | a0012c0012 | a0012c0012t0002 | a0012c0012t0002g0238 | 1 | 99 | 0.0101 | 32 | c.530 others(51): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2552081 | A | AATAAATA others(25): Show |
intron_variant | MODIFIER | HG02300.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0195 |
2 | 334 | 0.0060 | 32 | c.127 others(49): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552106 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03471.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0041 a0004c0007t0001g0231 |
2 | 242 | 0.0083 | 32 | c.127 others(49): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRCA2_chr13_32310508_32405268 | 32383102 | C | CTGTAATC others(25): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp1 others(102): Show |
a0001a0003a0007others(6): Show | a0001c0001a0003c0005a0007c0008others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(98): Show |
105 | 396 | 0.2652 | 32 | c.925 others(51): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91945279 | A | AATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 109 | 0.0092 | 32 | c.-44 others(43): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 4121 | chr1 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124997214 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0152 |
2 | 21 | 0.0952 | 32 | c.213 others(49): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119367221 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03130.hp2 HG03831.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0174 others(3): Show |
6 | 23 | 0.2609 | 32 | c.-51 others(49): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277087 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 75 | 0.0133 | 32 | c.427 others(49): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277113 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 182 | 0.0055 | 32 | c.427 others(49): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190396713 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 49 | 0.0204 | 32 | c.236 others(51): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190482431 | C | CGTGTATA others(25): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0049 |
2 | 238 | 0.0084 | 32 | c.-50 others(43): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 4568 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190482456 | A | ATATATAC others(25): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | 161 | 0.0124 | 32 | c.-50 others(43): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 4593 | chr1 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10123732 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0117 |
2 | 28 | 0.0714 | 32 | c.119 others(49): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1423659 | C | CTGCCCCA others(25): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 288 | 0.0035 | 32 | c.92- others(49): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1423667 | A | AGCCTCCC others(25): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG01496.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0005others(1): Show | a0001c0001t0001g0130 a0001c0001t0004g0055 a0002c0002t0005g0276 others(1): Show |
4 | 228 | 0.0175 | 32 | c.92- others(49): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1423667 | A | AGCCTCCC others(25): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0042 | 1 | 225 | 0.0044 | 32 | c.92- others(49): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1441223 | A | ACTACCCC others(25): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0049 |
2 | 356 | 0.0056 | 32 | c.413 others(47): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1441353 | G | GGCCCCTC others(25): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0170 | 1 | 358 | 0.0028 | 32 | c.413 others(47): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1466268 | T | TACACACA others(25): Show |
downstream_gene_variant | MODIFIER | NA18940.hp2 NA18969.hp2 NA18993.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0004 | a0001c0004t0001g0001 a0001c0004t0001g0078 a0001c0004t0001g0079 others(2): Show |
5 | 150 | 0.0333 | 32 | c.*55 others(43): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 3580 | chr11 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39244921 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0004 | a0004c0003 | a0004c0003t0057 | a0004c0003t0057g0151 | 1 | 72 | 0.0139 | 32 | c.248 others(51): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80700433 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01891.hp1 others(26): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0212 others(26): Show |
29 | 31 | 0.9355 | 32 | c.283 others(49): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 24/40 | chrX | TogoVar | |||||||
BSG_chr19_567596_588493 | 581060 | G | GGGTGAGG others(25): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 216 | 0.0046 | 32 | c.793 others(47): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 581060 | G | GGGTGAGG others(25): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 216 | 0.0046 | 32 | c.793 others(47): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 581204 | C | CTCCGGAC others(25): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01891.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0019 | a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 others(6): Show |
9 | 304 | 0.0296 | 32 | c.793 others(46): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BSND_chr1_54993933_55022172 | 54996837 | C | CTTTTTTT others(25): Show |
upstream_gene_variant | MODIFIER | NA18984.hp1 NA19001.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0062a0001c0001t0195 | a0001c0001t0062g0004 a0001c0001t0195g0077 |
3 | 280 | 0.0107 | 32 | c.-23 others(43): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 2095 | chr1 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49605564 | T | TAATATAT others(25): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 | 1 | 177 | 0.0056 | 32 | c.225 others(51): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | chr3 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49605884 | A | ATAAATAT others(25): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0012 | a0012c0009 | a0012c0009t0001 | a0012c0009t0001g0071 | 1 | 184 | 0.0054 | 32 | c.225 others(51): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |