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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TLCD5_chr11_120320299_120338686 | 120328679 | G | GTGTGTGT others(952): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 432 | 0.0023 | 959 | c.199 others(976): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328679 | G | GTGTGTGT others(952): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 432 | 0.0023 | 959 | c.199 others(976): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(952): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0257 | 1 | 432 | 0.0023 | 959 | c.199 others(976): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(952): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 432 | 0.0023 | 959 | c.199 others(976): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(952): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 432 | 0.0023 | 959 | c.199 others(976): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(952): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01358.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 4 | 432 | 0.0093 | 959 | c.199 others(976): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(952): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 432 | 0.0023 | 959 | c.199 others(976): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(952): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0013 | a0001c0001t0013g0036a0001c0003t0013g0036 | 2 | 432 | 0.0046 | 959 | c.199 others(976): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TP53AIP1_chr11_128930370_128947871 | 128930712 | G | GGGTTAGG others(952): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 466 | 0.0022 | 959 | c.*48 others(970): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4657 | chr11 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370325 | A | ATGTGTGT others(952): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0107 | 1 | 468 | 0.0021 | 959 | c.-6- others(974): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370750 | G | GTGTGTGT others(952): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0385 | 1 | 468 | 0.0021 | 959 | c.-6- others(974): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351506 | C | CTCCTCTC others(952): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0138 | 1 | 202 | 0.0050 | 959 | c.*53 others(970): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3708 | chr11 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(952): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0060 | 1 | 202 | 0.0050 | 959 | c.*53 others(970): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292538 | C | CTCAGTGG others(952): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0386 | 1 | 404 | 0.0025 | 959 | c.339 others(976): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46292556 | G | GCAAGTTA others(952): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0250 | 1 | 404 | 0.0025 | 959 | c.339 others(976): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46292750 | G | GTGCCCCG others(952): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 404 | 0.0025 | 959 | c.339 others(976): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294398 | A | ACAGCCAC others(952): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0175 | 1 | 404 | 0.0025 | 959 | c.340 others(976): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ZNF16_chr8_144925358_144955880 | 144946606 | T | TGGGCCCG others(952): Show |
intron_variant | MODIFIER | NA18997.hp2 NA19091.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0193a0002c0004t0001g0307 | 2 | 404 | 0.0050 | 959 | c.-9- others(972): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(953): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 306 | 0.0033 | 960 | c.130 others(979): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975324 | T | TATAAATA others(953): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 306 | 0.0033 | 960 | c.130 others(979): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975324 | T | TATAAATA others(953): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 306 | 0.0033 | 960 | c.130 others(979): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975476 | T | TATAAATA others(953): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 306 | 0.0033 | 960 | c.130 others(979): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(953): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0035 | 1 | 228 | 0.0044 | 960 | c.259 others(981): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(953): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0012 | a0012c0037 | a0012c0037t0001 | a0012c0037t0001g0116 | 1 | 228 | 0.0044 | 960 | c.259 others(981): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(953): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0127 | 1 | 318 | 0.0031 | 960 | c.225 others(977): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(953): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0004 | a0001c0004t0062 | a0001c0004t0062g0241 | 1 | 318 | 0.0031 | 960 | c.225 others(977): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1833057 | G | GACAGAAG others(953): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01978.hp1 HG01981.hp2 others(10): Show |
a0001a0002a0007 | a0001c0006a0001c0011a0001c0069others(9): Show | a0001c0006t0001a0001c0011t0001a0001c0069t0001others(9): Show | a0001c0006t0001g0008a0001c0011t0001g0015a0001c0069t0001g0012others(10): Show | 13 | 363 | 0.0358 | 960 | c.-48 others(977): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARID1B_chr6_156772378_157215779 | 157147569 | C | CCTCACCT others(953): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02922.hp1 HG03041.hp1 others(1): Show |
a0001a0009a0013others(1): Show | a0001c0001a0009c0041a0013c0025others(1): Show | a0001c0001t0005a0009c0041t0005a0013c0025t0005others(1): Show | a0001c0001t0005g0067a0009c0041t0005g0008a0013c0025t0005g0133others(1): Show | 4 | 150 | 0.0267 | 960 | c.276 others(979): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79327473 | C | CGTGGTTA others(953): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0001 | 2 | 298 | 0.0067 | 960 | c.177 others(979): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79327473 | C | CGTGGTTA others(953): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02735.hp2 HG06807.hp2 others(2): Show |
a0004 | a0004c0008a0004c0036 | a0004c0008t0001a0004c0036t0001 | a0004c0008t0001g0269a0004c0008t0001g0272a0004c0008t0001g0274others(2): Show | 5 | 298 | 0.0168 | 960 | c.177 others(979): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835481 | T | TGCGTGCA others(953): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 391 | 0.0026 | 960 | c.*36 others(971): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCGTGCA others(953): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 391 | 0.0026 | 960 | c.*36 others(971): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(953): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0252 | 1 | 334 | 0.0030 | 960 | c.-25 others(971): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(953): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0065 | 1 | 334 | 0.0030 | 960 | c.-25 others(971): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(953): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0023 | a0023c0044 | a0023c0044t0001 | a0023c0044t0001g0058 | 1 | 236 | 0.0042 | 960 | c.342 others(981): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNOT3_chr19_54132762_54160681 | 54133829 | C | CTCCCTCT others(953): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 223 | 0.0045 | 960 | c.-42 others(971): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3932 | chr19 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(953): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 320 | 0.0031 | 960 | c.380 others(977): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613670 | T | TCTCCCTC others(953): Show |
intron_variant | MODIFIER | HG02622.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0006 | a0001c0001t0001g0135a0002c0002t0006g0031 | 2 | 320 | 0.0063 | 960 | c.380 others(977): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(953): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0049 | 1 | 66 | 0.0152 | 960 | c.56- others(973): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(953): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0012 | 1 | 66 | 0.0152 | 960 | c.56- others(973): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385428 | A | ACAGTGTG others(953): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0275 | 1 | 372 | 0.0027 | 960 | c.180 others(979): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(953): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0277 | 1 | 372 | 0.0027 | 960 | c.180 others(979): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(953): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0003 | a0003c0010 | a0003c0010t0004 | a0003c0010t0004g0268 | 1 | 372 | 0.0027 | 960 | c.180 others(979): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(953): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0012 | 1 | 372 | 0.0027 | 960 | c.180 others(979): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COMMD9_chr11_36267292_36294424 | 36287125 | A | ACTATGTA others(953): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072a0001c0001t0002g0133 | 2 | 448 | 0.0045 | 960 | c.51+ others(975): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933085 | G | GAGAGGAA others(953): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0001 | a0002c0001t0055 | a0002c0001t0055g0329 | 1 | 386 | 0.0026 | 960 | c.198 others(977): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933465 | G | GAGAGGAA others(953): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0058 | a0002c0001t0058g0341 | 1 | 386 | 0.0026 | 960 | c.198 others(975): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14212196 | T | TTTTACTC others(953): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0083 | 1 | 148 | 0.0068 | 960 | c.212 others(981): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377500 | T | TGCTGTGT others(953): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0167 | 1 | 384 | 0.0026 | 960 | c.215 others(977): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2377531 | A | AGGAGGAA others(953): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 384 | 0.0026 | 960 | c.215 others(977): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |