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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAS3_chr17_60672851_61397831 | 60770400 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01256.hp2 HG01952.hp1 others(20): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(4): Show | a0001c0002t0001a0001c0004t0002a0002c0003t0001others(8): Show | a0001c0002t0001g0042 a0001c0004t0002g0035 a0001c0004t0002g0050 others(20): Show |
23 | 27 | 0.8519 | -22 | c.403 others(41): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61045988 | TTTATATA others(15): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0039 | 1 | 72 | 0.0139 | -22 | c.202 others(41): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61322808 | GAGAGAGA others(15): Show |
G | intron_variant | MODIFIER | HG01256.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0012 | 1 | 73 | 0.0137 | -22 | c.242 others(43): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50806728 | AGTAGGTA others(15): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 2 | 268 | 0.0075 | -22 | c.91- others(39): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24836906 | GAGAGAAA others(15): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG01884.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0041 | a0001c0001t0002g0106 a0001c0001t0002g0259 a0001c0001t0002g0270 others(4): Show |
7 | 227 | 0.0308 | -22 | c.818 others(37): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99199677 | TGTGTGTG others(15): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0013a0001c0001t0014 | a0001c0001t0009g0088 a0001c0001t0013g0181 a0001c0001t0013g0259 others(2): Show |
5 | 304 | 0.0164 | -22 | c.641 others(41): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99199683 | TGCGCGCG others(15): Show |
T | intron_variant | MODIFIER | NA18983.hp1 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0180 a0001c0002t0004g0121 |
2 | 247 | 0.0081 | -22 | c.641 others(41): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52116918 | CTTTTTTT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp2 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0009 | a0002c0002t0005g0113 a0002c0002t0009g0116 |
2 | 400 | 0.0050 | -22 | c.-42 others(33): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4144 | chr15 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17715122 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03516.hp1 NA18952.hp2 |
a0001a0004a0007 | a0001c0001a0004c0006a0007c0013 | a0001c0001t0010a0004c0006t0001a0007c0013t0003 | a0001c0001t0010g0226 a0004c0006t0001g0096 a0007c0013t0003g0028 |
3 | 267 | 0.0112 | -22 | c.601 others(41): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715150 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA18979.hp2 NA19077.hp1 NA19079.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0020 | a0001c0001t0003g0054 a0001c0001t0013g0179 a0001c0001t0013g0236 others(1): Show |
4 | 258 | 0.0155 | -22 | c.601 others(41): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715152 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02647.hp2 NA19089.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0003g0034 a0001c0001t0008g0234 a0001c0001t0010g0135 others(1): Show |
4 | 289 | 0.0138 | -22 | c.601 others(41): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715154 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02145.hp2 NA18974.hp1 NA19056.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0027 | a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0002t0027g0075 |
3 | 296 | 0.0101 | -22 | c.601 others(41): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715158 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG02717.hp1 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0014 | a0001c0002t0006g0071 a0001c0002t0014g0068 |
2 | 300 | 0.0067 | -22 | c.601 others(41): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31663113 | TATACACA others(15): Show |
T | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 184 | 0.0054 | -22 | c.*28 others(33): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 1344 | chr20 | TogoVar | |||||||
BCL2L1_chr20_31659458_31727868 | 31691152 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02015.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0087 |
2 | 12 | 0.1667 | -22 | c.565 others(41): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63169403 | TTTTCTTT others(15): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0161 | 1 | 257 | 0.0039 | -22 | c.586 others(41): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL3_chr19_44743708_44765044 | 44752275 | ACTGCAGC others(15): Show |
A | intron_variant | MODIFIER | NA18948.hp1 | a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0137 | 1 | 342 | 0.0029 | -22 | c.410 others(37): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
BCL3_chr19_44743708_44765044 | 44759003 | GGCCCCTC others(15): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02129.hp1 NA18747.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0005g0154 |
4 | 342 | 0.0117 | -22 | c.117 others(39): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BCL7A_chr12_122016884_122067044 | 122034190 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0023 | a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0002t0023g0267 |
3 | 12 | 0.2500 | -22 | c.175 others(39): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BCL9_chr1_147536501_147631216 | 147627902 | ATGCAAGA others(15): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0195 a0001c0001t0014g0229 |
2 | 314 | 0.0064 | -22 | c.*29 others(33): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1687 | chr1 | TogoVar | |||||||
BCO1_chr16_81233689_81296142 | 81280269 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0041 a0001c0001t0001g0042 others(6): Show |
10 | 19 | 0.5263 | -22 | c.110 others(39): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81284261 | TATATTTA others(15): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02922.hp2 others(1): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0013 | a0001c0001t0001a0001c0002t0001a0009c0013t0001 | a0001c0001t0001g0272 a0001c0002t0001g0170 a0001c0002t0001g0171 others(1): Show |
4 | 399 | 0.0100 | -22 | c.120 others(41): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046528 | ATATAAAT others(15): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0043 a0001c0002t0001g0208 |
2 | 248 | 0.0081 | -22 | c.*55 others(33): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4722 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40046554 | ATATATAT others(15): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02717.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0002t0001g0149 |
3 | 237 | 0.0127 | -22 | c.*55 others(33): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4696 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40080815 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03579.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 |
3 | 11 | 0.2727 | -22 | c.-40 others(39): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | |||||||
BEAN1_chr16_66422295_66487833 | 66445475 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 41 | 0.0244 | -22 | c.25+ others(37): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BECN2_chr1_241952767_241964062 | 241957039 | CTGTGTGT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 228 | 0.0044 | -22 | c.-72 others(31): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 727 | chr1 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(15): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG02615.hp1 HG03225.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0011 | a0001c0001t0003a0001c0001t0017a0001c0001t0022others(2): Show | a0001c0001t0003g0109 a0001c0001t0003g0188 a0001c0001t0003g0257 others(4): Show |
7 | 175 | 0.0400 | -22 | c.241 others(39): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073201 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG03486.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0004 | a0001c0002t0001g0052 a0001c0003t0004g0058 |
2 | 224 | 0.0089 | -22 | c.241 others(39): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEST1_chr11_61945351_61969461 | 61958902 | ACACATAC others(15): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0160 | 1 | 408 | 0.0025 | -22 | c.868 others(37): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BET1L_chr11_197924_212399 | 200766 | GGCCCGGC others(15): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0025 a0001c0001t0007g0006 |
4 | 400 | 0.0100 | -22 | c.*45 others(33): Show |
BET1L | ENSG00000177951.18 | transcript | ENST00000382762.8 | protein_coding | 2157 | chr11 | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060010 | CTCTCTCT others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 278 | 0.0072 | -22 | c.*28 others(33): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2640 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060012 | CTCTCTAT others(15): Show |
C | downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 284 | 0.0035 | -22 | c.*28 others(33): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2638 | chrX | TogoVar | |||||||
BEX2_chrX_103304346_103315990 | 103309250 | GTGTATAT others(15): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02897.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 210 | 0.0238 | -22 | c.*31 others(31): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 95 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102153606 | CATATATA others(15): Show |
C | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 23 | 0.0435 | -22 | c.*30 others(31): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 105 | chrX | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17501518 | TGCACCCC others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(115): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(12): Show | a0001c0002t0001g0010 a0001c0002t0001g0044 a0001c0002t0001g0061 others(108): Show |
118 | 393 | 0.3003 | -22 | c.736 others(39): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02015.hp2 HG02056.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0002t0001g0055 others(10): Show |
13 | 42 | 0.3095 | -22 | c.490 others(37): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275720 | GGTGTGTG others(15): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03209.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 275 | 0.0109 | -22 | c.*44 others(33): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3906 | chr17 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79137250 | CATATACG others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp1 NA19064.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0213 a0002c0003t0001g0039 |
2 | 281 | 0.0071 | -22 | c.*61 others(33): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4963 | chr5 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58732371 | GTGTGTAT others(15): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02922.hp1 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0004a0002c0002t0010a0003c0004t0043 | a0002c0002t0004g0093 a0002c0002t0010g0123 a0003c0004t0043g0112 |
3 | 21 | 0.1429 | -22 | c.307 others(41): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32116470 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 others(31): Show |
34 | 273 | 0.1245 | -22 | c.213 others(39): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32116490 | CTTTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00741.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(13): Show | a0001c0001t0001g0174 a0001c0001t0001g0199 a0001c0001t0001g0206 others(34): Show |
37 | 284 | 0.1303 | -22 | c.213 others(39): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32282199 | CTTCTTTT others(15): Show |
C | intron_variant | MODIFIER | NA19064.hp2 NA19083.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0049 a0001c0002t0003g0234 |
2 | 251 | 0.0080 | -22 | c.427 others(41): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346635 | CGTGTATA others(15): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01106.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0028a0001c0002t0002others(2): Show | a0001c0001t0008g0124 a0001c0001t0008g0138 a0001c0001t0008g0141 others(9): Show |
12 | 283 | 0.0424 | -22 | c.276 others(41): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32348723 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0209 | 1 | 6 | 0.1667 | -22 | c.276 others(41): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG03453.hp1 HG03688.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0022 | a0001c0001t0007g0037 a0001c0002t0022g0240 |
2 | 8 | 0.2500 | -22 | c.184 others(41): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47612629 | GGGAGAGG others(15): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0297 | 1 | 306 | 0.0033 | -22 | c.-10 others(41): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17762725 | AATTTCTC others(15): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0137 |
3 | 360 | 0.0083 | -22 | c.-59 others(41): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127043997 | TCACATTC others(15): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01361.hp1 HG01934.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0031 a0001c0001t0001g0108 a0001c0001t0001g0109 others(8): Show |
12 | 341 | 0.0352 | -22 | c.*45 others(33): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 4034 | chr2 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51295577 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 HG03927.hp1 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0005 | a0001c0001t0001g0027 a0005c0008t0005g0248 |
3 | 210 | 0.0143 | -22 | c.761 others(37): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar |