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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRWD1_chr21_39180482_39318632 | 39241473 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG03209.hp2 NA18967.hp2 |
a0001a0015 | a0001c0001a0015c0018 | a0001c0001t0002a0015c0018t0051 | a0001c0001t0002g0020a0015c0018t0051g0178 | 2 | 338 | 0.0059 | -17 | c.248 others(36): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39248641 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG03139.hp1 others(1): Show |
a0002a0003 | a0002c0002a0003c0004a0003c0005 | a0002c0002t0023a0003c0004t0005a0003c0005t0007 | a0002c0002t0023g0249a0003c0004t0005g0097a0003c0005t0007g0111others(1): Show | 4 | 338 | 0.0118 | -17 | c.235 others(34): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
BSDC1_chr1_32359633_32399441 | 32360891 | TAGATGAT others(10): Show |
T | downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0038 | 1 | 170 | 0.0059 | -17 | c.*57 others(28): Show |
BSDC1 | ENSG00000160058.19 | transcript | ENST00000455895.7 | protein_coding | 3741 | chr1 | TogoVar | ||||||
BSG_chr19_567596_588493 | 579252 | AGGGTGCC others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(52): Show |
a0001 | a0001c0001a0001c0003a0001c0015 | a0001c0001t0002a0001c0003t0001a0001c0003t0004others(6): Show | a0001c0001t0002g0127a0001c0003t0001g0058a0001c0003t0001g0066others(31): Show | 55 | 306 | 0.1797 | -17 | c.416 others(32): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BSND_chr1_54993933_55022172 | 55020286 | GGATGCTC others(10): Show |
G | downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0003 | a0001c0003t0059 | a0001c0003t0059g0024 | 1 | 448 | 0.0022 | -17 | c.*11 others(30): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 3115 | chr1 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49617277 | AATACATT others(10): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0020 | a0002c0020t0024 | a0002c0020t0024g0166 | 1 | 186 | 0.0054 | -17 | c.225 others(34): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BSPH1_chr19_47963046_47997170 | 47968211 | TAACCCAA others(10): Show |
T | splice_region_variant others(1): Show |
LOW | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0102 | 1 | 444 | 0.0023 | -17 | c.*3- others(27): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17399154 | AAGATGGG others(10): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 412 | 0.0024 | -17 | c.*41 others(28): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 3784 | chr19 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 1993995 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0035 | 1 | 364 | 0.0028 | -17 | c.528 others(32): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 2018320 | ATTTTTTT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0334 | 1 | 364 | 0.0028 | -17 | c.-26 others(28): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 2607 | chr19 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93331269 | ACAATGAG others(10): Show |
A | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0249 | 1 | 375 | 0.0027 | -17 | c.-10 others(36): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
BTBD8_chr1_92075345_92189723 | 92144073 | AAGCGATT others(10): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01891.hp1 others(19): Show |
a0001a0003a0008 | a0001c0001a0001c0003a0003c0004others(2): Show | a0001c0001t0002a0001c0003t0001a0003c0004t0001others(3): Show | a0001c0001t0002g0022a0001c0003t0001g0029a0001c0003t0001g0030others(18): Show | 22 | 158 | 0.1392 | -17 | c.930 others(34): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BTBD9_chr6_38163451_38644929 | 38266664 | AAGAAAGA others(10): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0136 | a0001c0001t0022g0182a0001c0001t0136g0142 | 2 | 224 | 0.0089 | -17 | c.145 others(38): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 8/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38375947 | GAAGGAAA others(10): Show |
G | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 224 | 0.0045 | -17 | c.115 others(38): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38557015 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02647.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0039 | a0001c0001t0033g0216a0001c0001t0039g0219 | 2 | 224 | 0.0089 | -17 | c.115 others(38): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTD_chr3_15596745_15658714 | 15600068 | GATAAAGA others(10): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp2 NA18942.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0157 | 3 | 416 | 0.0072 | -17 | c.-18 others(28): Show |
BTD | ENSG00000169814.17 | transcript | ENST00000643237.3 | protein_coding | 1676 | chr3 | TogoVar | ||||||
BTF3L4_chr1_52051295_52095716 | 52070299 | ATTGGTAT others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(199): Show | 212 | 276 | 0.7681 | -17 | c.168 others(34): Show |
BTF3L4 | ENSG00000134717.18 | transcript | ENST00000313334.13 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BTF3_chr5_73493442_73510667 | 73510630 | CATATAAT others(10): Show |
C | downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 408 | 0.0025 | -17 | c.*53 others(28): Show |
BTF3 | ENSG00000145741.17 | transcript | ENST00000380591.8 | protein_coding | 4964 | chr5 | TogoVar | ||||||
BTG2_chr1_203300519_203314602 | 203309437 | CTCTCCTA others(10): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0001 | 1 | 436 | 0.0023 | -17 | c.*20 others(28): Show |
BTG2 | ENSG00000159388.6 | transcript | ENST00000290551.5 | protein_coding | 2/2 | 2000 | chr1 | TogoVar | |||||
BTNL2_chr6_32388339_32412181 | 32401207 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(27): Show |
a0001a0007a0016 | a0001c0001a0001c0005a0007c0009others(1): Show | a0001c0001t0001a0001c0005t0001a0007c0009t0001others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0041a0001c0001t0001g0175others(5): Show | 30 | 453 | 0.0662 | -17 | c.730 others(32): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
BTNL8_chr5_180894159_180955906 | 180895597 | CCAAACAG others(10): Show |
C | upstream_gene_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 190 | 0.0053 | -17 | c.-37 others(28): Show |
BTNL8 | ENSG00000113303.12 | transcript | ENST00000340184.9 | protein_coding | 3561 | chr5 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101389115 | GTGTGTTT others(10): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0015 | 1 | 266 | 0.0038 | -17 | c.48+ others(34): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTRC_chr10_101349165_101562313 | 101427846 | CCAGAACA others(10): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 266 | 0.0038 | -17 | c.49- others(32): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101438422 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 266 | 0.0038 | -17 | c.156 others(34): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTRC_chr10_101349165_101562313 | 101505630 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 266 | 0.0038 | -17 | c.325 others(36): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BUD13_chr11_116743173_116777987 | 116775627 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0089 | 4 | 440 | 0.0091 | -17 | c.-26 others(28): Show |
BUD13 | ENSG00000137656.12 | transcript | ENST00000260210.5 | protein_coding | 2641 | chr11 | TogoVar | ||||||
BUD23_chr7_73678597_73703212 | 73684923 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01243.hp2 HG01258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007 | a0001c0001t0003g0172a0001c0001t0006g0183a0001c0001t0007g0029others(1): Show | 6 | 374 | 0.0160 | -17 | c.86+ others(32): Show |
BUD23 | ENSG00000071462.13 | transcript | ENST00000265758.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BZW1_chr2_200806910_200832338 | 200826395 | AGATAGAT others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0012 | 1 | 388 | 0.0026 | -17 | c.*42 others(28): Show |
BZW1 | ENSG00000082153.18 | transcript | ENST00000409600.6 | protein_coding | 12/12 | 4218 | chr2 | TogoVar | |||||
BZW1_chr2_200806910_200832338 | 200826397 | ATAGATAG others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0134a0001c0001t0155 | a0001c0001t0134g0006a0001c0001t0155g0006 | 2 | 388 | 0.0052 | -17 | c.*42 others(28): Show |
BZW1 | ENSG00000082153.18 | transcript | ENST00000409600.6 | protein_coding | 12/12 | 4221 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
BZW1_chr2_200806910_200832338 | 200826403 | AGATATTT others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0114 | a0001c0001t0114g0004 | 1 | 388 | 0.0026 | -17 | c.*42 others(28): Show |
BZW1 | ENSG00000082153.18 | transcript | ENST00000409600.6 | protein_coding | 12/12 | 4226 | chr2 | TogoVar | |||||
C10orf143_chr10_130058896_130115830 | 130101849 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(64): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0001a0001c0002t0001g0007a0001c0002t0001g0009others(40): Show | 67 | 394 | 0.1701 | -17 | c.69+ others(32): Show |
C10orf143 | ENSG00000237489.5 | transcript | ENST00000637128.2 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126477076 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | NA18950.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0099 | 1 | 218 | 0.0046 | -17 | c.153 others(38): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 4/9 | chr10 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126520331 | AACTCAAA others(10): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(188): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0008a0002c0004others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0011others(188): Show | 191 | 218 | 0.8762 | -17 | c.314 others(34): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
C11orf54_chr11_93736672_93769749 | 93740433 | GAAAAAAA others(10): Show |
G | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0176 | 1 | 364 | 0.0028 | -17 | c.-13 others(28): Show |
C11orf54 | ENSG00000182919.15 | transcript | ENST00000354421.8 | protein_coding | 1238 | chr11 | TogoVar | ||||||
C11orf58_chr11_16733647_16763340 | 16754547 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 | 1 | 384 | 0.0026 | -17 | c.319 others(32): Show |
C11orf58 | ENSG00000110696.10 | transcript | ENST00000228136.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
C11orf65_chr11_108377755_108472529 | 108433723 | GGCTTGTT others(10): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG03669.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0045a0001c0001t0001g0048 | 3 | 330 | 0.0091 | -17 | c.82- others(32): Show |
C11orf65 | ENSG00000166323.13 | transcript | ENST00000393084.6 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
C11orf71_chr11_114393532_114405511 | 114394178 | CGTTTCTT others(10): Show |
C | downstream_gene_variant | MODIFIER | NA18979.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 2 | 422 | 0.0047 | -17 | c.*57 others(28): Show |
C11orf71 | ENSG00000180425.11 | transcript | ENST00000623205.2 | protein_coding | 4353 | chr11 | TogoVar | ||||||
C11orf71_chr11_114393532_114405511 | 114402382 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp2 others(61): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0013others(4): Show | a0001c0001t0004g0000a0001c0001t0006g0000a0001c0001t0013g0000others(4): Show | 64 | 422 | 0.1517 | -17 | c.-20 others(28): Show |
C11orf71 | ENSG00000180425.11 | transcript | ENST00000623205.2 | protein_coding | 1872 | chr11 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39696564 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA18522.hp2 NA20129.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0335a0003c0005t0001g0336 | 2 | 360 | 0.0056 | -17 | c.141 others(36): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C13orf46_chr13_113948705_113979076 | 113956340 | GGAGTAGT others(10): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0187 | 1 | 414 | 0.0024 | -17 | c.*41 others(26): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | 416 | chr13 | TogoVar | |||||
C13orf46_chr13_113948705_113979076 | 113956347 | TATCTGGT others(10): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00741.hp2 HG01069.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0219others(15): Show | 21 | 414 | 0.0507 | -17 | c.*40 others(26): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | 409 | chr13 | TogoVar | |||||
C13orf46_chr13_113948705_113979076 | 113963467 | TGTCCTCA others(10): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 414 | 0.0024 | -17 | c.572 others(34): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 6/6 | chr13 | TogoVar | ||||||
C14orf180_chr14_104574764_104595515 | 104581309 | GGGCCATT others(10): Show |
G | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 433 | 0.0023 | -17 | c.-17 others(34): Show |
C14orf180 | ENSG00000184601.11 | transcript | ENST00000557649.6 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
C15orf40_chr15_82989817_83016639 | 82999162 | GGGTGAGG others(10): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0070 | 1 | 406 | 0.0025 | -17 | c.*64 others(28): Show |
C15orf40 | ENSG00000169609.14 | transcript | ENST00000304177.10 | protein_coding | 4/4 | 6418 | chr15 | TogoVar | |||||
C16orf46_chr16_81055980_81082238 | 81079748 | AAAAAAAA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02523.hp1 others(11): Show |
a0002a0003a0005 | a0002c0002a0003c0005a0005c0008 | a0002c0002t0001a0003c0005t0002a0005c0008t0002 | a0002c0002t0001g0029a0003c0005t0002g0013a0003c0005t0002g0025others(5): Show | 14 | 406 | 0.0345 | -17 | c.-27 others(28): Show |
C16orf46 | ENSG00000166455.14 | transcript | ENST00000299578.10 | protein_coding | 2511 | chr16 | TogoVar | ||||||
C16orf46_chr16_81055980_81082238 | 81079753 | AAAAAAGA others(10): Show |
A | upstream_gene_variant | MODIFIER | NA18987.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 | 1 | 406 | 0.0025 | -17 | c.-27 others(28): Show |
C16orf46 | ENSG00000166455.14 | transcript | ENST00000299578.10 | protein_coding | 2516 | chr16 | TogoVar | ||||||
C16orf90_chr16_3488484_3500489 | 3490397 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 446 | 0.0022 | -17 | c.*34 others(28): Show |
C16orf90 | ENSG00000215131.11 | transcript | ENST00000437192.8 | protein_coding | 3086 | chr16 | TogoVar | ||||||
C16orf96_chr16_4551340_4605758 | 4575703 | GGGACTTA others(10): Show |
G | frameshift_variant | HIGH | NA18981.hp1 | a0017 | a0017c0040 | a0017c0040t0003 | a0017c0040t0003g0022 | 1 | 278 | 0.0036 | -17 | c.122 others(26): Show |
p.Asp others(5): Show |
C16orf96 | ENSG00000205832.8 | transcript | ENST00000444310.5 | protein_coding | 5/16 | 1376/4017 | 1226/3426 | 409/1141 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
C17orf113_chr17_42033232_42055601 | 42038203 | CTGACACA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 | 1 | 300 | 0.0033 | -17 | c.*14 others(28): Show |
C17orf113 | ENSG00000267221.3 | transcript | ENST00000587304.3 | protein_coding | 28 | chr17 | TogoVar | ||||||
C17orf98_chr17_38830086_38846438 | 38842111 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0045 | 2 | 431 | 0.0046 | -17 | c.-73 others(26): Show |
C17orf98 | ENSG00000275489.2 | transcript | ENST00000614158.2 | protein_coding | 674 | chr17 | TogoVar |