| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARHGEF28_chr5_73621196_73946990 | 73850085 | T | TGTTATTT others(342): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0004 | a0004c0057 | a0004c0057t0003 | a0004c0057t0003g0107 | 1 | 188 | 0.0053 | 349 | c.174 others(368): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 13/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| ASAH1_chr8_18050992_18089107 | 18085612 | T | TAAATAAG others(342): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 2 | 420 | 0.0048 | 349 | c.-15 others(360): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 1506 | chr8 | TogoVar | |||||||
| ATG2B_chr14_96274195_96368341 | 96340148 | A | AATATATA others(342): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0159 | 1 | 356 | 0.0028 | 349 | c.924 others(366): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 6/41 | chr14 | TogoVar | |||||||
| ATP8A2_chr13_25366974_26030851 | 25797842 | A | AAAGTGTT others(342): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0013 | 1 | 122 | 0.0082 | 349 | c.267 others(370): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82984480 | G | GGGGAGAG others(342): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0018 | 1 | 266 | 0.0038 | 349 | c.460 others(368): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
| B4GALNT4_chr11_364499_387117 | 374842 | G | GAGGGAGG others(342): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 184 | 0.0054 | 349 | c.784 others(364): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| BAIAP3_chr16_1328645_1354439 | 1339871 | A | AGACACAC others(342): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01255.hp1 HG01261.hp1 others(2): Show |
a0001a0007 | a0001c0002a0007c0017 | a0001c0002t0002a0007c0017t0002 | a0001c0002t0002g0012a0001c0002t0002g0091a0007c0017t0002g0012 | 5 | 358 | 0.0140 | 349 | c.408 others(364): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| BAIAP3_chr16_1328645_1354439 | 1339903 | G | GACACGCA others(342): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0089 | 1 | 358 | 0.0028 | 349 | c.408 others(364): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| BCOR_chrX_40046251_40102958 | 40080061 | C | CAAGAAAA others(342): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 257 | 0.0039 | 349 | c.-40 others(366): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | |||||||
| BCOR_chrX_40046251_40102958 | 40080064 | G | GAAAAGGA others(342): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 257 | 0.0039 | 349 | c.-40 others(366): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | |||||||
| BICD1_chr12_32101847_32388633 | 32205715 | T | TTATATGT others(342): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0033 | 1 | 290 | 0.0035 | 349 | c.214 others(368): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| C12orf4_chr12_4482735_4543469 | 4531042 | T | TAAGAGTA others(342): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 220 | 0.0046 | 349 | c.325 others(364): Show |
C12orf4 | ENSG00000047621.12 | transcript | ENST00000261250.8 | protein_coding | 3/13 | chr12 | TogoVar | |||||||
| C1orf21_chr1_184382029_184634019 | 184430669 | C | CCCCAAAT others(342): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 232 | 0.0043 | 349 | c.-12 others(370): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| C4orf50_chr4_5954375_6023431 | 6004539 | G | GTGATGAT others(342): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03491.hp1 HG03492.hp1 |
a0035a0078 | a0035c0041a0078c0109 | a0035c0041t0000a0078c0109t0000 | a0035c0041t0000g0301a0035c0041t0000g0324a0078c0109t0000g0091 | 3 | 346 | 0.0087 | 349 | c.963 others(366): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
| C9orf85_chr9_71906639_71978457 | 71929860 | T | TAAACTTA others(342): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18972.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151a0001c0001t0001g0224a0001c0001t0001g0239 | 3 | 250 | 0.0120 | 349 | c.103 others(368): Show |
C9orf85 | ENSG00000155621.15 | transcript | ENST00000334731.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CACHD1_chr1_64465129_64698053 | 64492378 | T | TCCCCCTA others(342): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02040.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0022a0001c0001t0001g0104a0001c0001t0018g0101 | 3 | 166 | 0.0181 | 349 | c.198 others(368): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(342): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0117 | 1 | 338 | 0.0030 | 349 | c.300 others(366): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CACNA1H_chr16_1148106_1226768 | 1185667 | G | GGAGGCGG others(342): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0018 | a0018c0027 | a0018c0027t0001 | a0018c0027t0001g0165 | 1 | 338 | 0.0030 | 349 | c.300 others(366): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CACNG3_chr16_24251335_24367412 | 24336650 | G | GCCAAGGT others(342): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 366 | 0.0027 | 349 | c.212 others(368): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
| CACNG3_chr16_24251335_24367412 | 24336650 | G | GCCAAGGT others(342): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0079others(27): Show | 30 | 366 | 0.0820 | 349 | c.212 others(368): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
| CAPN11_chr6_44153820_44189401 | 44181441 | C | CACCACAC others(342): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0384 | 1 | 460 | 0.0022 | 349 | c.193 others(366): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| CAPN11_chr6_44153820_44189401 | 44181451 | A | ACACACAC others(342): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0255 | 1 | 460 | 0.0022 | 349 | c.193 others(366): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| CAPN11_chr6_44153820_44189401 | 44181824 | C | CCACACTC others(342): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0288 | 1 | 460 | 0.0022 | 349 | c.193 others(366): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| CAPN11_chr6_44153820_44189401 | 44181824 | C | CCACACTC others(342): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0225 | 1 | 460 | 0.0022 | 349 | c.193 others(366): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| CASP8_chr2_201255536_201292709 | 201284695 | G | GGGGAGAG others(342): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0206 | 1 | 386 | 0.0026 | 349 | c.803 others(363): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| CASP9_chr1_15486401_15529215 | 15511404 | T | TAATTTTT others(342): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0102 | 1 | 350 | 0.0029 | 349 | c.419 others(366): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
| CCNT1_chr12_48683458_48721707 | 48702357 | T | TAAGAAAA others(342): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0139 | 1 | 386 | 0.0026 | 349 | c.373 others(366): Show |
CCNT1 | ENSG00000129315.12 | transcript | ENST00000261900.8 | protein_coding | 3/8 | chr12 | TogoVar | |||||||
| CDK19_chr6_110604978_110820469 | 110666104 | C | CAAAGAAT others(342): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 300 | 0.0033 | 349 | c.456 others(366): Show |
CDK19 | ENSG00000155111.15 | transcript | ENST00000368911.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
| CDK19_chr6_110604978_110820469 | 110666104 | C | CAAAGAAT others(342): Show |
intron_variant | MODIFIER | HG03491.hp2 NA19012.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0100a0001c0001t0010g0112a0001c0001t0010g0113 | 3 | 300 | 0.0100 | 349 | c.456 others(366): Show |
CDK19 | ENSG00000155111.15 | transcript | ENST00000368911.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
| CENPH_chr5_69184583_69215357 | 69204071 | A | AGAATATA others(342): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 388 | 0.0026 | 349 | c.487 others(366): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
| CFAP44_chr3_113281930_113446493 | 113328300 | A | ATCTCTTT others(342): Show |
intron_variant | MODIFIER | HG02698.hp2 NA18953.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0034a0002c0002t0002g0119 | 2 | 348 | 0.0058 | 349 | c.411 others(366): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | |||||||
| CFAP61_chr20_20047532_20365698 | 20355435 | G | GTACTCAC others(342): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0070 | 1 | 236 | 0.0042 | 349 | c.351 others(368): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| CNTN3_chr3_74257568_74619659 | 74520191 | T | TTTATGAC others(342): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0004 | a0004c0011 | a0004c0011t0002 | a0004c0011t0002g0045 | 1 | 174 | 0.0058 | 349 | c.55+ others(362): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
| COL27A1_chr9_114150537_114317511 | 114278403 | T | TGGTGATA others(342): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01358.hp2 others(7): Show |
a0001a0004a0006others(4): Show | a0001c0003a0004c0079a0006c0009others(5): Show | a0001c0003t0002a0001c0003t0004a0004c0079t0007others(6): Show | a0001c0003t0002g0080a0001c0003t0004g0162a0004c0079t0007g0286others(7): Show | 10 | 308 | 0.0325 | 349 | c.371 others(368): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 37/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CPNE7_chr16_89570758_89602246 | 89597936 | T | TCTGTCCA others(342): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0151 | 1 | 348 | 0.0029 | 349 | c.*13 others(360): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 691 | chr16 | TogoVar | |||||||
| CREB1_chr2_207524962_207610988 | 207607677 | T | TATCATAC others(342): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0185 | 1 | 308 | 0.0033 | 349 | c.*10 others(362): Show |
CREB1 | ENSG00000118260.15 | transcript | ENST00000353267.8 | protein_coding | 1690 | chr2 | TogoVar | |||||||
| CREB1_chr2_207524962_207610988 | 207607677 | T | TATCATAC others(342): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0257a0001c0001t0015g0258 | 2 | 308 | 0.0065 | 349 | c.*10 others(362): Show |
CREB1 | ENSG00000118260.15 | transcript | ENST00000353267.8 | protein_coding | 1690 | chr2 | TogoVar | |||||||
| CRELD2_chr22_49913634_49932537 | 49926713 | C | CCCCCCAC others(342): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0142 | 1 | 324 | 0.0031 | 349 | c.101 others(366): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240924080 | C | CCCCACAC others(342): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02970.hp2 |
a0020a0058 | a0020c0028a0058c0027 | a0020c0028t0001a0058c0027t0003 | a0020c0028t0001g0027a0058c0027t0003g0026 | 2 | 350 | 0.0057 | 349 | c.488 others(366): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| CSNK1G2_chr19_1936172_1986338 | 1967647 | G | GCCACCCT others(342): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 382 | 0.0026 | 349 | c.-26 others(368): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| CXorf51A_chrX_146809106_146819744 | 146812296 | T | TGTACATA others(342): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 264 | 0.0038 | 349 | c.*19 others(360): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | |||||||
| DDX51_chr12_132131594_132149319 | 132149136 | C | CACACCAC others(342): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 334 | 0.0030 | 349 | c.-48 others(360): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4818 | chr12 | TogoVar | |||||||
| DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(342): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 367 | 0.0027 | 349 | c.-42 others(360): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | |||||||
| DECR2_chr16_396885_417482 | 397709 | T | TGGGGGGG others(342): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0104 | 1 | 367 | 0.0027 | 349 | c.-42 others(360): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4175 | chr16 | TogoVar | |||||||
| DECR2_chr16_396885_417482 | 397709 | T | TGGGGGGG others(342): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0165 | 1 | 367 | 0.0027 | 349 | c.-42 others(360): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4175 | chr16 | TogoVar | |||||||
| DEFB123_chr20_31435632_31455257 | 31444314 | T | TTCGTTCT others(342): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 372 | 0.0027 | 349 | c.58+ others(364): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14460938 | T | TAAGAAAC others(342): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0064 | 1 | 148 | 0.0068 | 349 | c.183 others(370): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
| DGKB_chr7_14140049_14907751 | 14460938 | T | TAAGAAAC others(342): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0125 | 1 | 148 | 0.0068 | 349 | c.183 others(370): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
| DLGAP1_chr18_3491032_4460307 | 3566132 | T | TGATAATT others(342): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0033 | 1 | 80 | 0.0125 | 349 | c.205 others(368): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 9/12 | chr18 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1508511 | T | TGCAAACC others(342): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0040 | 1 | 40 | 0.0250 | 349 | c.172 others(366): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |