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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BOK_chr2_241553745_241579131 | 241558052 | G | GAAACAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00735.hp2 others(73): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0033 a0001c0001t0001g0077 a0001c0001t0001g0078 others(59): Show |
76 | 279 | 0.2724 | 26 | c.-97 others(35): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 692 | chr2 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG02258.hp1 NA19084.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0002 | a0001c0001t0002g0024 a0001c0001t0002g0058 a0002c0004t0002g0002 |
3 | 52 | 0.0577 | 26 | c.-32 others(37): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19174385 | A | ATTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 105 | 0.0095 | 26 | c.*31 others(37): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 2520 | chr19 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19177684 | G | GAAAAGAA others(19): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0137 | 1 | 402 | 0.0025 | 26 | c.*43 others(41): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19177692 | G | GAGAAAAG others(19): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 330 | 0.0030 | 26 | c.*43 others(41): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BPIFA3_chr20_33212352_33232806 | 33213100 | G | GTGTGTGT others(19): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0052 | 1 | 373 | 0.0027 | 26 | c.-44 others(37): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 4251 | chr20 | TogoVar | |||||||
BPIFB1_chr20_33278214_33314871 | 33279882 | T | TTCTCTCT others(19): Show |
upstream_gene_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 | 1 | 205 | 0.0049 | 26 | c.-34 others(37): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 3331 | chr20 | TogoVar | |||||||
BPIFB4_chr20_33074643_33116751 | 33087753 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 81 | 0.0123 | 26 | c.927 others(43): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33108423 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03486.hp1 NA19010.hp2 |
a0004a0019 | a0004c0004a0019c0015 | a0004c0004t0001a0019c0015t0001 | a0004c0004t0001g0062 a0004c0004t0001g0124 a0019c0015t0001g0086 |
3 | 176 | 0.0170 | 26 | c.182 others(43): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424648 | T | TCCTCCTC others(19): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02647.hp1 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0019t0001 | a0001c0001t0001g0128 a0001c0019t0001g0131 |
2 | 275 | 0.0073 | 26 | c.121 others(45): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424651 | T | TCCTCCTC others(19): Show |
intron_variant | MODIFIER | HG02886.hp2 NA20129.hp1 |
a0006a0018 | a0006c0006a0018c0020 | a0006c0006t0001a0018c0020t0002 | a0006c0006t0001g0397 a0018c0020t0002g0088 |
2 | 289 | 0.0069 | 26 | c.121 others(45): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424660 | T | TCCTCCTC others(19): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0416 | 1 | 293 | 0.0034 | 26 | c.121 others(45): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38339638 | G | GAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0006 | a0006c0005 | a0006c0005t0003 | a0006c0005t0003g0283 | 1 | 47 | 0.0213 | 26 | c.*24 others(37): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 2134 | chr20 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56956044 | A | AATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0226 |
2 | 23 | 0.0870 | 26 | c.*77 others(37): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1886 | chr8 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67917131 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00735.hp1 NA18965.hp2 NA18973.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0189 a0002c0002t0002g0198 a0002c0002t0002g0213 others(1): Show |
4 | 102 | 0.0392 | 26 | c.530 others(45): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BRAP_chr12_111637146_111690956 | 111667698 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 67 | 0.0149 | 26 | c.748 others(43): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 5/11 | chr12 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552081 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02135.hp1 |
a0001 | a0001c0001a0001c0032 | a0001c0001t0001a0001c0032t0001 | a0001c0001t0001g0127 a0001c0032t0001g0126 |
2 | 334 | 0.0060 | 26 | c.127 others(43): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552106 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0036 | 1 | 241 | 0.0041 | 26 | c.127 others(43): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552106 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0001g0144 |
3 | 243 | 0.0123 | 26 | c.127 others(43): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100559 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0012 | a0012c0020 | a0012c0020t0002 | a0012c0020t0002g0151 | 1 | 274 | 0.0036 | 26 | c.442 others(41): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100609 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0025 | 1 | 241 | 0.0041 | 26 | c.442 others(41): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124997214 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0021others(1): Show | a0001c0001t0001g0141 a0001c0001t0007g0139 a0001c0001t0021g0140 others(1): Show |
4 | 23 | 0.1739 | 26 | c.213 others(43): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280243 | A | AAGATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0027 |
2 | 320 | 0.0063 | 26 | c.-15 others(37): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1442 | chr7 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119367217 | G | GTGTGTGA others(19): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0187 a0001c0004t0001g0186 |
2 | 199 | 0.0101 | 26 | c.-51 others(43): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119367221 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG03942.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0144 a0001c0002t0001g0143 a0001c0003t0001g0179 others(1): Show |
4 | 21 | 0.1905 | 26 | c.-51 others(43): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277087 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02040.hp1 HG02738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0062 a0001c0001t0001g0097 a0001c0001t0001g0101 others(2): Show |
5 | 79 | 0.0633 | 26 | c.427 others(43): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277087 | T | TTTTATAT others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 75 | 0.0133 | 26 | c.427 others(43): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277113 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0115 |
2 | 183 | 0.0109 | 26 | c.427 others(43): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277113 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 182 | 0.0055 | 26 | c.427 others(43): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190301178 | T | TATATATG others(19): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00639.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(55): Show |
58 | 234 | 0.2479 | 26 | c.237 others(45): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190396713 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03927.hp2 HG04204.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0150 a0001c0001t0002g0215 a0001c0001t0002g0216 others(2): Show |
5 | 53 | 0.0943 | 26 | c.236 others(45): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61787311 | T | TTATATAC others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00735.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(10): Show | a0001c0001t0001g0052 a0001c0001t0002g0051 a0001c0001t0002g0061 others(30): Show |
33 | 264 | 0.1250 | 26 | c.147 others(45): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 10/19 | chr17 | TogoVar | |||||||
BRIX1_chr5_34910711_34930996 | 34929743 | G | GCCCGCCG others(19): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 438 | 0.0023 | 26 | c.*42 others(37): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 3748 | chr5 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10123732 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0003g0045 |
5 | 31 | 0.1613 | 26 | c.119 others(43): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | G | GTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 25 | 0.0400 | 26 | c.*27 others(37): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | G | GTGTGTGT others(19): Show |
downstream_gene_variant | MODIFIER | NA18959.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0190 |
2 | 26 | 0.0769 | 26 | c.*27 others(37): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1466268 | T | TACACACA others(19): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp1 others(47): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0032 a0001c0001t0001g0064 a0001c0001t0001g0069 others(46): Show |
50 | 195 | 0.2564 | 26 | c.*55 others(37): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 3580 | chr11 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39244921 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02027.hp2 HG02083.hp1 others(10): Show |
a0001a0004a0005 | a0001c0001a0001c0008a0004c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(7): Show | a0001c0001t0003g0304 a0001c0001t0004g0268 a0001c0001t0004g0284 others(10): Show |
13 | 84 | 0.1548 | 26 | c.248 others(45): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80700432 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0105 | a0001c0001t0105g0260 | 1 | 263 | 0.0038 | 26 | c.283 others(43): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 24/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80700433 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0050others(2): Show | a0001c0001t0002g0088 a0001c0001t0016g0137 a0001c0001t0016g0138 others(4): Show |
7 | 9 | 0.7778 | 26 | c.283 others(43): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 24/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80809759 | A | AAGAGAGA others(19): Show |
5_prime_UTR_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0138 | 1 | 49 | 0.0204 | 26 | c.-31 others(35): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 289 | chrX | TogoVar | ||||||
BSG_chr19_567596_588493 | 569668 | C | CGTTAAAT others(19): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 304 | 0.0033 | 26 | c.-29 others(37): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2927 | chr19 | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 54996837 | C | CTTTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 NA18962.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0056others(1): Show | a0001c0001t0008g0012 a0001c0001t0009g0004 a0001c0001t0056g0014 others(1): Show |
4 | 281 | 0.0142 | 26 | c.-23 others(37): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 2095 | chr1 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49605580 | T | TTTATATA others(19): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02922.hp1 HG04228.hp1 |
a0001a0011 | a0001c0001a0011c0013 | a0001c0001t0003a0011c0013t0013 | a0001c0001t0003g0095 a0011c0013t0013g0049 a0011c0013t0013g0050 |
3 | 86 | 0.0349 | 26 | c.225 others(45): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49613303 | C | CAAGAGAG others(19): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0004 | a0004c0022 | a0004c0022t0002 | a0004c0022t0002g0033 | 1 | 16 | 0.0625 | 26 | c.225 others(45): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | chr3 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49613303 | C | CGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02698.hp2 NA18944.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0012a0002c0002t0001 | a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0012g0115 others(1): Show |
4 | 19 | 0.2105 | 26 | c.225 others(45): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49613303 | C | CGAGCGAG others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 a0001c0001t0002g0134 |
2 | 17 | 0.1176 | 26 | c.225 others(45): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49673087 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0145 | 1 | 23 | 0.0435 | 26 | c.*56 others(37): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1539 | chr3 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47963893 | C | CTTTCTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG02280.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0002c0003t0001g0401 |
2 | 294 | 0.0068 | 26 | c.*43 others(37): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 4152 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47969684 | G | GGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03492.hp1 HG03688.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0142 a0001c0001t0001g0156 a0001c0001t0001g0157 others(2): Show |
5 | 69 | 0.0725 | 26 | c.*3- others(41): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar |