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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCO1_chr16_81233689_81296142 | 81245849 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(118): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0005a0001c0017others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(7): Show | a0001c0002t0001g0003 a0001c0002t0001g0037 a0001c0002t0001g0038 others(116): Show |
121 | 218 | 0.5550 | -6 | c.193 others(21): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81280269 | CAAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01109.hp2 others(15): Show |
a0001a0003a0005 | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(3): Show | a0001c0001t0001g0262 a0001c0005t0001g0132 a0001c0007t0001g0200 others(13): Show |
18 | 27 | 0.6667 | -6 | c.110 others(23): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81292235 | TTTTTTC | T | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02572.hp1 others(8): Show |
a0001a0002a0012 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0041 a0001c0001t0001g0042 others(7): Show |
11 | 393 | 0.0280 | -6 | c.*16 others(17): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 1094 | chr16 | TogoVar | |||||||
BCO1_chr16_81233689_81296142 | 81295404 | AAAAAAG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(84): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0158 others(82): Show |
87 | 399 | 0.2180 | -6 | c.*48 others(17): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 4263 | chr16 | TogoVar | |||||||
BCO2_chr11_112170512_112223946 | 112196812 | TTCCTCC | T | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00597.hp1 others(53): Show |
a0001a0007 | a0001c0001a0001c0008a0007c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 others(49): Show |
56 | 370 | 0.1514 | -6 | c.736 others(23): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112210756 | GCACACA | G | intron_variant | MODIFIER | HG01884.hp1 HG03516.hp2 HG03579.hp1 |
a0001a0009a0015 | a0001c0001a0009c0010a0015c0021 | a0001c0001t0009a0009c0010t0001a0015c0021t0002 | a0001c0001t0009g0100 a0009c0010t0001g0123 a0015c0021t0002g0122 |
3 | 12 | 0.2500 | -6 | c.119 others(25): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046594 | ATATATG | A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG03209.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0111 a0001c0001t0002g0025 a0001c0001t0002g0033 others(1): Show |
4 | 245 | 0.0163 | -6 | c.*55 others(17): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4656 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40080815 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0017 a0001c0001t0001g0120 a0001c0001t0001g0141 others(68): Show |
78 | 86 | 0.9070 | -6 | c.-40 others(23): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | |||||||
BCR_chr22_23175509_23323037 | 23226305 | TGAGAGA | T | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG02027.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0102a0001c0001t0103a0001c0004t0061others(4): Show | a0001c0001t0102g0141 a0001c0001t0103g0140 a0001c0004t0061g0015 others(4): Show |
7 | 283 | 0.0247 | -6 | c.128 others(27): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23226325 | AGAGTGT | A | intron_variant | MODIFIER | HG02257.hp2 HG02723.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0004a0001c0005a0001c0009 | a0001c0004t0155a0001c0005t0036a0001c0005t0153others(1): Show | a0001c0004t0155g0273 a0001c0005t0036g0278 a0001c0005t0153g0274 others(1): Show |
4 | 280 | 0.0143 | -6 | c.128 others(27): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23240302 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(73): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0006a0001c0001t0033a0001c0001t0099others(61): Show | a0001c0001t0006g0223 a0001c0001t0033g0235 a0001c0001t0099g0165 others(70): Show |
76 | 123 | 0.6179 | -6 | c.128 others(27): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23297204 | GTTGTTT | G | intron_variant | MODIFIER | HG03098.hp2 NA19090.hp2 NA20129.hp1 |
a0001 | a0001c0004a0001c0018 | a0001c0004t0047a0001c0018t0128a0001c0018t0132 | a0001c0004t0047g0017 a0001c0018t0128g0266 a0001c0018t0132g0268 |
3 | 283 | 0.0106 | -6 | c.301 others(25): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510668 | GTGTACA | G | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG03688.hp2 NA18980.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0010 | a0001c0001t0002g0224 a0001c0001t0002g0238 a0001c0001t0002g0239 others(1): Show |
4 | 318 | 0.0126 | -6 | c.*12 others(17): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1221 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510684 | GGTGTGT | G | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG01256.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0068others(2): Show | a0001c0001t0001g0134 a0001c0001t0006g0158 a0001c0001t0068g0255 others(2): Show |
6 | 191 | 0.0314 | -6 | c.*12 others(17): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1205 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197528299 | AGTGAGT | A | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG03669.hp2 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0047 | a0001c0002t0011g0029 a0001c0002t0047g0263 |
3 | 318 | 0.0094 | -6 | c.267 others(23): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 5/7 | chr3 | TogoVar | |||||||
BDKRB2_chr14_96199839_96249164 | 96209997 | AAATAAT | A | intron_variant | MODIFIER | HG00609.hp2 HG02109.hp2 HG03654.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0001t0019a0001c0002t0002others(1): Show | a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0351 others(5): Show |
8 | 109 | 0.0734 | -6 | c.-40 others(23): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96210016 | AATCATC | A | intron_variant | MODIFIER | HG01346.hp2 HG02071.hp2 HG02486.hp1 others(21): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0236 a0001c0001t0005g0022 a0001c0001t0005g0082 others(20): Show |
24 | 278 | 0.0863 | -6 | c.-40 others(23): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96213495 | AACACAC | A | intron_variant | MODIFIER | HG00323.hp1 HG02109.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0003g0368 a0001c0001t0004g0343 a0001c0001t0007g0110 others(5): Show |
8 | 57 | 0.1404 | -6 | c.-40 others(23): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96216808 | AAGGAGG | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0121 a0001c0001t0001g0252 others(38): Show |
50 | 426 | 0.1174 | -6 | c.-40 others(25): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96245881 | TTGATGA | T | downstream_gene_variant | MODIFIER | NA18944.hp2 NA19064.hp2 NA19083.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0002 | a0001c0001t0014g0132 a0001c0001t0014g0178 a0001c0002t0002g0297 |
3 | 216 | 0.0139 | -6 | c.*43 others(17): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1718 | chr14 | TogoVar | |||||||
BDNF_chr11_27649893_27705455 | 27697160 | CACACAG | C | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG00741.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018a0001c0001t0027 | a0001c0001t0005g0004 a0001c0001t0005g0007 a0001c0001t0005g0047 others(13): Show |
27 | 260 | 0.1038 | -6 | c.-22 others(23): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BDNF_chr11_27649893_27705455 | 27698226 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01175.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0003g0248 a0001c0001t0005g0264 a0001c0001t0005g0265 others(3): Show |
8 | 12 | 0.6667 | -6 | c.-22 others(23): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BDP1_chr5_71450651_71572820 | 71451104 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00741.hp1 others(49): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0039others(12): Show | a0001c0001t0002a0001c0001t0020a0002c0002t0001others(15): Show | a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0043 others(49): Show |
52 | 73 | 0.7123 | -6 | c.-47 others(17): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 4546 | chr5 | TogoVar | |||||||
BDP1_chr5_71450651_71572820 | 71473262 | ATTTTTT | A | intron_variant | MODIFIER | HG01243.hp2 HG01257.hp2 HG02257.hp2 others(6): Show |
a0001a0002a0009others(2): Show | a0001c0001a0002c0002a0009c0008others(2): Show | a0001c0001t0002a0002c0002t0001a0009c0008t0002others(2): Show | a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0091 others(6): Show |
9 | 63 | 0.1429 | -6 | c.101 others(25): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71552834 | GGGGAGA | G | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02486.hp1 others(2): Show |
a0012 | a0012c0012 | a0012c0012t0003 | a0012c0012t0003g0148 a0012c0012t0003g0166 a0012c0012t0003g0167 others(2): Show |
5 | 324 | 0.0154 | -6 | c.699 others(23): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 34/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66453342 | TACACAC | T | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 |
3 | 230 | 0.0130 | -6 | c.25+ others(23): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BECN2_chr1_241952767_241964062 | 241957045 | GTGTGTA | G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01099.hp1 others(14): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0007 | a0002c0002t0001a0003c0003t0001a0009c0007t0001 | a0002c0002t0001g0000 a0003c0003t0001g0000 a0009c0007t0001g0000 |
17 | 442 | 0.0385 | -6 | c.-72 others(15): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 721 | chr1 | TogoVar | |||||||
BECN2_chr1_241952767_241964062 | 241957051 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG01261.hp1 HG02040.hp2 HG02083.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 14 | 340 | 0.0412 | -6 | c.-71 others(15): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 715 | chr1 | TogoVar | |||||||
BEGAIN_chr14_100532147_100592417 | 100546778 | GCGCACA | G | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0041 others(13): Show |
21 | 214 | 0.0981 | -6 | c.72- others(19): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 2/6 | chr14 | TogoVar | |||||||
BEGAIN_chr14_100532147_100592417 | 100546780 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp1 HG02135.hp2 NA19010.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0002t0001a0001c0013t0001 | a0001c0001t0001g0001 a0001c0002t0001g0125 a0001c0002t0001g0146 others(1): Show |
4 | 195 | 0.0205 | -6 | c.72- others(19): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 2/6 | chr14 | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18185533 | AAATAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(44): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0123 others(44): Show |
47 | 77 | 0.6104 | -6 | c.128 others(25): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18194972 | AACACAC | A | intron_variant | MODIFIER | HG03098.hp1 HG03516.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0003g0208 |
3 | 151 | 0.0199 | -6 | c.118 others(23): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 7/13 | chrX | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18224006 | CATATAT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01070.hp1 others(33): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0041 others(33): Show |
36 | 62 | 0.5806 | -6 | c.-32 others(17): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 3121 | chrX | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073197 | GTATGTA | G | intron_variant | MODIFIER | HG00609.hp1 HG02165.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0001 | a0001c0001t0003g0021 a0001c0001t0003g0031 a0001c0001t0005g0024 others(1): Show |
4 | 172 | 0.0233 | -6 | c.241 others(23): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073201 | GTATATA | G | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01255.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0059others(3): Show | a0001c0001t0003g0199 a0001c0001t0004g0236 a0001c0001t0059g0353 others(17): Show |
21 | 243 | 0.0864 | -6 | c.241 others(23): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073259 | ATATATG | A | intron_variant | MODIFIER | HG01169.hp2 HG01884.hp2 HG03453.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0012a0001c0001t0015a0001c0001t0050others(1): Show | a0001c0001t0012g0007 a0001c0001t0015g0003 a0001c0001t0050g0069 others(1): Show |
4 | 366 | 0.0109 | -6 | c.241 others(23): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48762612 | TTTTGTG | T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp2 others(69): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(51): Show |
72 | 266 | 0.2707 | -6 | c.227 others(23): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48763100 | AAACAAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(125): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(101): Show |
128 | 141 | 0.9078 | -6 | c.227 others(23): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48769526 | AACACAC | A | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025 a0001c0001t0001g0285 a0001c0001t0002g0283 |
4 | 104 | 0.0385 | -6 | c.226 others(23): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND6_chr6_56950107_57032346 | 56960992 | TGTAGAA | T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0014 others(26): Show |
36 | 202 | 0.1782 | -6 | c.-10 others(25): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BEND6_chr6_56950107_57032346 | 56965676 | TTATATA | T | intron_variant | MODIFIER | HG01884.hp2 HG03195.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0138 a0001c0001t0002g0066 a0001c0001t0002g0067 |
3 | 94 | 0.0319 | -6 | c.-10 others(27): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BEND6_chr6_56950107_57032346 | 56973500 | TAATAAC | T | intron_variant | MODIFIER | HG02132.hp1 NA18943.hp1 NA18989.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 a0001c0001t0004g0056 a0001c0001t0004g0057 others(6): Show |
10 | 202 | 0.0495 | -6 | c.-10 others(25): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BEND6_chr6_56950107_57032346 | 57003512 | GCAACAA | G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0101 a0001c0001t0002g0066 a0001c0001t0002g0067 |
3 | 183 | 0.0164 | -6 | c.298 others(25): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BEND7_chr10_13436088_13534014 | 13498071 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(73): Show |
a0001a0004a0005 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(67): Show |
76 | 189 | 0.4021 | -6 | c.449 others(23): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
BEND7_chr10_13436088_13534014 | 13517065 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG02818.hp1 others(5): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0002a0001c0003t0007a0002c0005t0002 | a0001c0003t0002g0247 a0001c0003t0002g0248 a0001c0003t0002g0250 others(5): Show |
8 | 208 | 0.0385 | -6 | c.145 others(23): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
BEND7_chr10_13436088_13534014 | 13528578 | GGCGGCA | G | 5_prime_UTR_variant | MODIFIER | HG00609.hp1 HG01167.hp2 HG01168.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0003t0007others(3): Show | a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0246 others(27): Show |
30 | 298 | 0.1007 | -6 | c.-51 others(13): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 1/9 | 46 | chr10 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61955084 | TCCACCC | T | splice_acceptor_variant others(2): Show |
HIGH | HG01496.hp1 HG02109.hp1 HG02257.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0045 others(2): Show |
14 | 408 | 0.0343 | -6 | c.153 others(17): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61958901 | CACACAT | C | intron_variant | MODIFIER | HG00673.hp1 HG01070.hp2 HG01071.hp2 others(23): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 others(18): Show |
26 | 392 | 0.0663 | -6 | c.868 others(21): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69682906 | ATAAACT | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(42): Show |
59 | 364 | 0.1621 | -6 | c.482 others(23): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69703916 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(81): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show |
84 | 87 | 0.9655 | -6 | c.-47 others(17): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4614 | chr12 | TogoVar |