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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCR_chr22_23175509_23323037 | 23262711 | GGGCCCGG others(8): Show |
G | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0146 | a0001c0001t0146g0187 | 1 | 294 | 0.0034 | -15 | c.175 others(34): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510669 | TGTACATG others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01361.hp1 HG02486.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0010 | a0001c0001t0002g0008 a0001c0001t0002g0241 a0001c0001t0009g0067 others(1): Show |
4 | 318 | 0.0126 | -15 | c.*12 others(26): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1211 | chr3 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96243362 | AGCTAGAA others(8): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0287 | 1 | 434 | 0.0023 | -15 | c.*18 others(26): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 3/3 | 1884 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BDKRB2_chr14_96199839_96249164 | 96243472 | CAGAACCT others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03669.hp1 | a0005 | a0005c0005 | a0005c0005t0038 | a0005c0005t0038g0280 | 1 | 434 | 0.0023 | -15 | c.*19 others(26): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 3/3 | 1979 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BDP1_chr5_71450651_71572820 | 71480277 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0142 | 1 | 58 | 0.0172 | -15 | c.101 others(34): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66445475 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 41 | 0.0244 | -15 | c.25+ others(30): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474730 | AAAAGAAA others(8): Show |
A | intron_variant | MODIFIER | NA18977.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 a0001c0001t0001g0239 |
2 | 296 | 0.0068 | -15 | c.290 others(32): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18185533 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG03209.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0004c0006t0008 | a0001c0001t0002g0253 a0004c0006t0008g0148 a0004c0006t0008g0149 |
3 | 33 | 0.0909 | -15 | c.128 others(34): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18201403 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(7): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0207 a0001c0001t0003g0002 a0001c0001t0003g0208 others(5): Show |
10 | 293 | 0.0341 | -15 | c.103 others(32): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 6/13 | chrX | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48769555 | ACACACAC others(8): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 1 | 340 | 0.0029 | -15 | c.226 others(32): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND7_chr10_13436088_13534014 | 13478728 | TAAACACT others(8): Show |
T | intron_variant | MODIFIER | HG02602.hp1 HG03704.hp1 NA18968.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0045 a0001c0001t0006g0044 a0001c0001t0006g0046 others(2): Show |
5 | 298 | 0.0168 | -15 | c.106 others(34): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
BEND7_chr10_13436088_13534014 | 13528569 | GGCGGCAG others(8): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(261): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(237): Show |
264 | 298 | 0.8859 | -15 | c.-51 others(22): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 1/9 | 37 | chr10 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69684981 | GTTCTATT others(8): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0219 |
2 | 144 | 0.0139 | -15 | c.482 others(32): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69703916 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18997.hp2 NA19066.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0140 a0001c0001t0001g0180 |
3 | 6 | 0.5000 | -15 | c.-47 others(26): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4614 | chr12 | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158102 | TTTCTTCT others(8): Show |
T | upstream_gene_variant | MODIFIER | HG03486.hp2 HG03491.hp2 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0009 |
4 | 305 | 0.0131 | -15 | c.-23 others(26): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2126 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158141 | CTTCTTCT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 301 | 0.0033 | -15 | c.-24 others(26): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2165 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158144 | CTTCTTCT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01884.hp1 NA18942.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
5 | 291 | 0.0172 | -15 | c.-24 others(26): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2168 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158147 | CTTCTTCT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02976.hp2 NA18980.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0006 |
6 | 300 | 0.0200 | -15 | c.-24 others(26): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2171 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158150 | CTTCTTAT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG02132.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
9 | 293 | 0.0307 | -15 | c.-24 others(26): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2174 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158153 | CTTATTAT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01975.hp2 HG01993.hp2 HG02015.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(2): Show |
23 | 205 | 0.1122 | -15 | c.-24 others(26): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2177 | chrX | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133446571 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 266 | 0.0038 | -15 | c.490 others(30): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133446625 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 | 1 | 274 | 0.0036 | -15 | c.490 others(30): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BGLAP_chr1_156237184_156248317 | 156238312 | CACATCTA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | -15 | c.-39 others(26): Show |
BGLAP | ENSG00000242252.2 | transcript | ENST00000368272.5 | protein_coding | 3871 | chr1 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32118440 | AGCATCCT others(8): Show |
A | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0122 | 1 | 288 | 0.0035 | -15 | c.213 others(34): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32282199 | CTTCTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01358.hp2 HG02015.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(8): Show | a0001c0001t0003g0246 a0001c0001t0007g0146 a0001c0001t0011g0269 others(19): Show |
22 | 271 | 0.0812 | -15 | c.427 others(34): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32282202 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0135 | 1 | 62 | 0.0161 | -15 | c.427 others(34): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32283359 | ACCACTCC others(8): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0096 | 1 | 167 | 0.0060 | -15 | c.427 others(34): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32300631 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0144 | 1 | 80 | 0.0125 | -15 | c.580 others(32): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42793122 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 27 | 0.0370 | -15 | c.-10 others(36): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42844508 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03486.hp1 HG03540.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0005t0026others(2): Show | a0001c0001t0001g0046 a0001c0001t0002g0043 a0001c0001t0002g0052 others(3): Show |
6 | 48 | 0.1250 | -15 | c.184 others(34): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG02258.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0021 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(6): Show |
9 | 15 | 0.6000 | -15 | c.184 others(34): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47659723 | CACACACA others(8): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0033 | a0003c0033t0004 | a0003c0033t0004g0023 | 1 | 310 | 0.0032 | -15 | c.-10 others(36): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | chr19 | TogoVar | |||||||
BID_chr22_17729138_17779469 | 17756417 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00558.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0037 others(13): Show |
16 | 348 | 0.0460 | -15 | c.-58 others(32): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
BIK_chr22_43105750_43134712 | 43125731 | GAGAAAGA others(8): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02809.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 a0001c0001t0003g0066 a0001c0001t0003g0082 others(2): Show |
6 | 384 | 0.0156 | -15 | c.161 others(32): Show |
BIK | ENSG00000100290.3 | transcript | ENST00000216115.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BIK_chr22_43105750_43134712 | 43130417 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp2 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0106 a0001c0001t0002g0188 |
2 | 7 | 0.2857 | -15 | c.*11 others(26): Show |
BIK | ENSG00000100290.3 | transcript | ENST00000216115.3 | protein_coding | 706 | chr22 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127107102 | CCGGACGG others(8): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0018 | 1 | 342 | 0.0029 | -15 | c.-17 others(24): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/19 | 160 | chr2 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22616882 | TTTTTTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0128 | 1 | 367 | 0.0027 | -15 | c.*45 others(26): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 3535 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22616883 | TTTTTTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02922.hp1 |
a0001a0002 | a0001c0002a0002c0010 | a0001c0002t0024a0002c0010t0025 | a0001c0002t0024g0132 a0002c0010t0025g0215 |
2 | 384 | 0.0052 | -15 | c.*45 others(26): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 3534 | chr8 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102349272 | GTGTGAAC others(8): Show |
G | 5_prime_UTR_variant | MODIFIER | NA18949.hp2 NA18982.hp2 NA18983.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 a0001c0001t0004g0076 a0001c0001t0004g0196 |
4 | 342 | 0.0117 | -15 | c.-58 others(24): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 2/9 | 567 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BIRC5_chr17_78209253_78230635 | 78224041 | TTTTTTTG others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 430 | 0.0023 | -15 | c.*49 others(24): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 4/4 | 494 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32460993 | CTCTGCTC others(8): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0149 | 1 | 268 | 0.0037 | -15 | c.475 others(34): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461063 | TTCTGTTC others(8): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02922.hp1 others(1): Show |
a0001a0002a0004 | a0001c0013a0002c0002a0004c0019 | a0001c0013t0001a0002c0002t0001a0004c0019t0001 | a0001c0013t0001g0037 a0002c0002t0001g0151 a0004c0019t0001g0143 others(1): Show |
4 | 157 | 0.0255 | -15 | c.475 others(34): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461068 | TTCTCCTC others(8): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03540.hp1 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0116 a0001c0012t0001g0117 a0001c0012t0001g0272 |
3 | 91 | 0.0330 | -15 | c.475 others(34): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461121 | TCCTCTCC others(8): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG06807.hp1 |
a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0176 a0001c0021t0001g0177 |
2 | 215 | 0.0093 | -15 | c.475 others(34): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32480621 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 4 | 0.2500 | -15 | c.740 others(32): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 37/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32553197 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02818.hp1 |
a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0175 a0001c0025t0001g0178 |
2 | 15 | 0.1333 | -15 | c.131 others(36): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 65/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11504367 | GAAAGAAA others(8): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02818.hp1 HG02970.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0004a0001c0001t0005a0001c0004t0013others(1): Show | a0001c0001t0004g0087 a0001c0001t0005g0085 a0001c0004t0013g0076 others(3): Show |
6 | 112 | 0.0536 | -15 | c.-2+ others(30): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11533590 | GAGGAGGA others(8): Show |
G | intron_variant | MODIFIER | HG02523.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0165 |
2 | 306 | 0.0065 | -15 | c.-1- others(30): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90738564 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02886.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 |
3 | 140 | 0.0214 | -15 | c.-4- others(30): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90785998 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0009a0001c0010 | a0001c0009t0001a0001c0010t0001 | a0001c0009t0001g0080 a0001c0009t0001g0276 a0001c0010t0001g0042 others(2): Show |
5 | 240 | 0.0208 | -15 | c.282 others(32): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |