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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCL2L13_chr22_17633757_17735855 | 17680528 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01261.hp2 others(18): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0006a0001c0001t0008a0001c0001t0021others(6): Show | a0001c0001t0006g0070a0001c0001t0008g0230a0001c0001t0021g0018others(18): Show | 21 | 306 | 0.0686 | -14 | c.122 others(31): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17693368 | GTTTGTTT others(7): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02886.hp1 HG03225.hp1 |
a0004 | a0004c0006 | a0004c0006t0001a0004c0006t0049a0004c0006t0063 | a0004c0006t0001g0090a0004c0006t0049g0091a0004c0006t0063g0093 | 3 | 306 | 0.0098 | -14 | c.387 others(31): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715122 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0299 | 1 | 306 | 0.0033 | -14 | c.601 others(33): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17722090 | AATAAGTA others(7): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0142 | 1 | 306 | 0.0033 | -14 | c.601 others(31): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17731100 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0302a0001c0001t0028g0303 | 2 | 306 | 0.0065 | -14 | c.*35 others(25): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 246 | chr22 | TogoVar | ||||||
BCL2L14_chr12_12065939_12104695 | 12102664 | GACACACA others(7): Show |
G | downstream_gene_variant | MODIFIER | NA18940.hp2 NA18960.hp1 NA18977.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0004t0001others(2): Show | a0001c0001t0001g0137a0001c0001t0001g0344a0001c0002t0002g0073others(4): Show | 7 | 454 | 0.0154 | -14 | c.*36 others(25): Show |
BCL2L14 | ENSG00000121380.12 | transcript | ENST00000308721.9 | protein_coding | 2970 | chr12 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31663121 | TATATATA others(7): Show |
T | downstream_gene_variant | MODIFIER | HG02818.hp1 HG03098.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075a0001c0001t0002g0089a0001c0001t0002g0090others(1): Show | 4 | 186 | 0.0215 | -14 | c.*28 others(25): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 1336 | chr20 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63169355 | TTCTTTCT others(7): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0045 | 1 | 264 | 0.0038 | -14 | c.586 others(33): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63169403 | TTTTCTTT others(7): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 | 1 | 264 | 0.0038 | -14 | c.586 others(33): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63320707 | AGTGTGTG others(7): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0225 | 1 | 264 | 0.0038 | -14 | c.-18 others(25): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 939 | chr18 | TogoVar | ||||||
BCL3_chr19_44743708_44765044 | 44763664 | AAAATAAA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 344 | 0.0029 | -14 | c.*40 others(25): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 3621 | chr19 | TogoVar | ||||||
BCL6_chr3_187716381_187750468 | 187737347 | CAGAGAGA others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01175.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0114a0001c0001t0001g0187a0001c0001t0001g0240others(7): Show | 10 | 404 | 0.0248 | -14 | c.-49 others(31): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
BCL7A_chr12_122016884_122067044 | 122034190 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00673.hp2 others(38): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0029others(22): Show | a0001c0001t0001g0093a0001c0001t0001g0095a0001c0001t0001g0096others(38): Show | 41 | 362 | 0.1133 | -14 | c.175 others(31): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL7A_chr12_122016884_122067044 | 122038129 | AAAAAAGA others(7): Show |
A | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 362 | 0.0028 | -14 | c.271 others(31): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL7A_chr12_122016884_122067044 | 122044298 | TAGGAGTT others(7): Show |
T | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0266 | 1 | 362 | 0.0028 | -14 | c.439 others(29): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL7B_chr7_73531356_73562690 | 73560858 | CCACCTAT others(7): Show |
C | upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 284 | 0.0035 | -14 | c.-32 others(25): Show |
BCL7B | ENSG00000106635.8 | transcript | ENST00000223368.7 | protein_coding | 3169 | chr7 | TogoVar | ||||||
BCL9L_chr11_118891136_118930926 | 118919105 | CCCCCCCC others(7): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02630.hp2 others(2): Show |
a0003 | a0003c0006 | a0003c0006t0012 | a0003c0006t0012g0014a0003c0006t0012g0025 | 5 | 250 | 0.0200 | -14 | c.-13 others(31): Show |
BCL9L | ENSG00000186174.13 | transcript | ENST00000683865.1 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
BCL9_chr1_147536501_147631216 | 147541177 | AGTGTGTG others(7): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG02056.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0176a0001c0001t0002g0179a0001c0001t0002g0183others(18): Show | 23 | 316 | 0.0728 | -14 | c.-97 others(23): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 323 | chr1 | TogoVar | ||||||
BCL9_chr1_147536501_147631216 | 147587756 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02647.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0014others(1): Show | a0001c0001t0006g0284a0001c0001t0009g0218a0001c0001t0014g0195others(1): Show | 4 | 316 | 0.0127 | -14 | c.-47 others(35): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCLAF3_chrX_19907860_19996061 | 19982549 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0050 | 1 | 207 | 0.0048 | -14 | c.-35 others(31): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/11 | chrX | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112196906 | TCCTTTCC others(7): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0097 | 1 | 380 | 0.0026 | -14 | c.736 others(31): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCOR_chrX_40046251_40102958 | 40046522 | TTATATAT others(7): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG03239.hp2 NA18948.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(1): Show | a0001c0001t0001g0053a0001c0001t0001g0069a0001c0001t0001g0074others(8): Show | 11 | 257 | 0.0428 | -14 | c.*55 others(25): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4728 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40080815 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp1 others(84): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0056others(80): Show | 87 | 257 | 0.3385 | -14 | c.-40 others(31): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40080958 | TGCACGCA others(7): Show |
T | intron_variant | MODIFIER | NA18946.hp1 NA18961.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0113a0001c0002t0001g0088 | 2 | 257 | 0.0078 | -14 | c.-40 others(31): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23183341 | AGTTGAAT others(7): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0284a0001c0002t0028g0285 | 2 | 296 | 0.0068 | -14 | c.127 others(33): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23262114 | ACACCCTG others(7): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0149 | 1 | 296 | 0.0034 | -14 | c.175 others(31): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197510599 | GGTGTGTG others(7): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0221 | a0001c0001t0221g0137 | 1 | 319 | 0.0031 | -14 | c.*12 others(25): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1282 | chr3 | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197548851 | AAAAACAA others(7): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01256.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(7): Show | a0001c0001t0003g0023a0001c0001t0004g0022a0001c0001t0012g0028others(7): Show | 10 | 319 | 0.0314 | -14 | c.-43 others(31): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 2/7 | chr3 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71451104 | TACACACA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp2 HG03486.hp1 NA18747.hp2 others(3): Show |
a0001a0004a0009 | a0001c0001a0004c0004a0009c0008 | a0001c0001t0002a0004c0004t0010a0009c0008t0007 | a0001c0001t0002g0019a0001c0001t0002g0020a0001c0001t0002g0021others(3): Show | 6 | 325 | 0.0185 | -14 | c.-47 others(25): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 4546 | chr5 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71480277 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(107): Show |
a0001a0007a0008others(7): Show | a0001c0001a0001c0021a0001c0022others(12): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0019others(17): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0014others(105): Show | 110 | 325 | 0.3385 | -14 | c.101 others(33): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BEAN1_chr16_66422295_66487833 | 66461569 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00673.hp2 others(70): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0043others(67): Show | 73 | 298 | 0.2450 | -14 | c.26- others(29): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BECN2_chr1_241952767_241964062 | 241957039 | CTGTGTGT others(7): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00639.hp1 others(35): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0000a0002c0002t0000a0004c0004t0000 | a0001c0001t0000g0000a0002c0002t0000g0000a0004c0004t0000g0000 | 38 | 444 | 0.0856 | -14 | c.-72 others(23): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 727 | chr1 | TogoVar | ||||||
BECN2_chr1_241952767_241964062 | 241957051 | ATGTGTGT others(7): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 42 | 444 | 0.0946 | -14 | c.-71 others(23): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 715 | chr1 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100546778 | GCGCACAC others(7): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG02976.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(3): Show | 6 | 326 | 0.0184 | -14 | c.72- others(27): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100546780 | GCACACAC others(7): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166a0001c0001t0001g0169 | 2 | 326 | 0.0061 | -14 | c.72- others(27): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18183042 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 295 | 0.0034 | -14 | c.128 others(33): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18205605 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG03098.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0017 | 2 | 295 | 0.0068 | -14 | c.493 others(31): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 4/13 | chrX | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18224006 | CATATATA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01975.hp1 HG02129.hp1 others(9): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0066a0001c0001t0002g0210others(9): Show | 12 | 295 | 0.0407 | -14 | c.-32 others(25): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 3121 | chrX | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(7): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG02056.hp1 NA18940.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0011a0001c0001t0017others(2): Show | a0001c0001t0002g0017a0001c0001t0011g0353a0001c0001t0017g0143others(2): Show | 5 | 368 | 0.0136 | -14 | c.241 others(31): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107073201 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG02559.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0287a0001c0001t0004g0232a0001c0002t0001g0179others(2): Show | 5 | 368 | 0.0136 | -14 | c.241 others(31): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48755609 | GTCTCTCA others(7): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0133 | 1 | 342 | 0.0029 | -14 | c.745 others(31): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48762612 | TTTTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG02074.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0231a0001c0002t0001g0232 | 2 | 342 | 0.0059 | -14 | c.227 others(31): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48769526 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 342 | 0.0029 | -14 | c.226 others(31): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61958893 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0040others(19): Show | 50 | 410 | 0.1220 | -14 | c.868 others(29): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BEST3_chr12_69648609_69704303 | 69703916 | CAAAAAAA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(123): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0010a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(105): Show | 126 | 366 | 0.3443 | -14 | c.-47 others(25): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4614 | chr12 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69703936 | AAAAAAAA others(7): Show |
A | upstream_gene_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0249 | 1 | 366 | 0.0027 | -14 | c.-47 others(25): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4634 | chr12 | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103060004 | CTCTCTCT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 339 | 0.0030 | -14 | c.*28 others(25): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2646 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103060006 | CTCTCTCT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 339 | 0.0030 | -14 | c.*28 others(25): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2644 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103060008 | CTCTCTCT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01346.hp2 HG02040.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(5): Show | 11 | 339 | 0.0325 | -14 | c.*28 others(25): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2642 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103060010 | CTCTCTCT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG01993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(1): Show | 5 | 339 | 0.0148 | -14 | c.*28 others(25): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2640 | chrX | TogoVar |