| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALDH1L2_chr12_105014790_105089458 | 105035916 | ATATATAC others(59): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(45): Show |
a0001a0003a0005 | a0001c0001a0001c0006a0003c0005others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0014others(6): Show | a0001c0001t0003g0014a0001c0001t0003g0025a0001c0001t0003g0032others(45): Show | 48 | 386 | 0.1244 | -66 | c.214 others(85): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
| ALDH1L2_chr12_105014790_105089458 | 105036088 | ATATTATA others(59): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02896.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0003a0001c0001t0012a0004c0008t0012 | a0001c0001t0003g0128a0001c0001t0003g0234a0001c0001t0003g0301others(5): Show | 8 | 386 | 0.0207 | -66 | c.214 others(85): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
| ALDH1L2_chr12_105014790_105089458 | 105036135 | TACGTATA others(59): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0017a0001c0001t0001g0057a0001c0001t0001g0226others(2): Show | 5 | 386 | 0.0130 | -66 | c.214 others(85): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
| ALK_chr2_29187774_29926586 | 29245165 | TCATGGCT others(59): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0037 | a0001c0037t0005 | a0001c0037t0005g0028 | 1 | 80 | 0.0125 | -66 | c.220 others(85): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 12/28 | chr2 | TogoVar | ||||||
| ALOXE3_chr17_8090900_8123514 | 8107932 | AGAAAGAA others(59): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG02602.hp1 HG03710.hp2 |
a0001a0005 | a0001c0001a0005c0010a0005c0011 | a0001c0001t0002a0005c0010t0002a0005c0011t0001 | a0001c0001t0002g0257a0005c0010t0002g0324a0005c0011t0001g0111 | 3 | 422 | 0.0071 | -66 | c.168 others(83): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
| AMFR_chr16_56356452_56430545 | 56397703 | AATCATTT others(59): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0024 | a0001c0001t0007g0090a0001c0001t0024g0098a0001c0001t0024g0099 | 3 | 356 | 0.0084 | -66 | c.108 others(85): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 8/13 | chr16 | TogoVar | ||||||
| AMFR_chr16_56356452_56430545 | 56398076 | GTATCATT others(59): Show |
G | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 356 | 0.0028 | -66 | c.108 others(85): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 8/13 | chr16 | TogoVar | ||||||
| ANK2_chr4_113044653_113388736 | 113064718 | TTGTTAGA others(59): Show |
T | intron_variant | MODIFIER | HG01975.hp1 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010a0002c0002t0001g0016 | 2 | 178 | 0.0112 | -66 | c.84+ others(83): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ANKAR_chr2_189669670_189751647 | 189742865 | GACACACA others(59): Show |
G | intron_variant | MODIFIER | HG03471.hp1 NA19030.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0198a0005c0005t0001g0199 | 2 | 296 | 0.0068 | -66 | c.381 others(83): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ANKRD11_chr16_89262630_89495561 | 89454783 | CTTCTAGG others(59): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp2 HG01192.hp2 others(8): Show |
a0001a0002a0008others(4): Show | a0001c0001a0001c0018a0001c0022others(6): Show | a0001c0001t0001a0001c0018t0001a0001c0022t0001others(6): Show | a0001c0001t0001g0182a0001c0001t0001g0184a0001c0001t0001g0260others(8): Show | 11 | 310 | 0.0355 | -66 | c.-14 others(87): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| ANKRD11_chr16_89262630_89495561 | 89455017 | TTAGGGTT others(59): Show |
T | intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0245 | 1 | 310 | 0.0032 | -66 | c.-14 others(87): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| ANKRD61_chr7_6026376_6041552 | 6027644 | AGGCTTCC others(59): Show |
A | upstream_gene_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 446 | 0.0022 | -66 | c.-37 others(77): Show |
ANKRD61 | ENSG00000157999.6 | transcript | ENST00000409061.2 | protein_coding | 3731 | chr7 | TogoVar | ||||||
| ANO9_chr11_412938_447011 | 436954 | GTGAGCAG others(59): Show |
G | intron_variant | MODIFIER | NA18951.hp1 NA18995.hp1 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0198a0005c0007t0001g0199 | 2 | 286 | 0.0070 | -66 | c.7-2 others(79): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 1/22 | chr11 | TogoVar | ||||||
| ARHGAP10_chr4_147727088_148077776 | 147783555 | CACACATT others(59): Show |
C | intron_variant | MODIFIER | HG02572.hp2 NA18906.hp1 NA21309.hp2 |
a0001a0004 | a0001c0001a0001c0004a0004c0010 | a0001c0001t0001a0001c0004t0001a0004c0010t0001 | a0001c0001t0001g0106a0001c0004t0001g0105a0004c0010t0001g0048 | 3 | 106 | 0.0283 | -66 | c.155 others(85): Show |
ARHGAP10 | ENSG00000071205.12 | transcript | ENST00000336498.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ARHGAP10_chr4_147727088_148077776 | 147783811 | AACACACA others(59): Show |
A | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 106 | 0.0094 | -66 | c.155 others(85): Show |
ARHGAP10 | ENSG00000071205.12 | transcript | ENST00000336498.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ARHGAP18_chr6_129571132_129715177 | 129625219 | GATATATG others(59): Show |
G | intron_variant | MODIFIER | HG00609.hp2 NA18963.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0093a0002c0002t0002g0019 | 2 | 238 | 0.0084 | -66 | c.786 others(83): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144531235 | AAGGGCAC others(59): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0211a0001c0001t0004g0153a0001c0001t0007g0239 | 3 | 246 | 0.0122 | -66 | c.298 others(83): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144531294 | AAGGGCAC others(59): Show |
A | intron_variant | MODIFIER | HG02027.hp2 NA19012.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0205a0001c0001t0001g0208a0001c0002t0001g0133 | 3 | 246 | 0.0122 | -66 | c.298 others(83): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
| ARHGAP8_chr22_44747575_44867784 | 44800654 | TGGGGGGC others(59): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0028 | a0028c0077 | a0028c0077t0006 | a0028c0077t0006g0068 | 1 | 390 | 0.0026 | -66 | c.80- others(81): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| ARHGAP8_chr22_44747575_44867784 | 44825773 | GGGGGGGC others(59): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0272a0003c0002t0002g0273 | 2 | 390 | 0.0051 | -66 | c.596 others(81): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1887415 | CCTGAGTG others(59): Show |
C | intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0060 | a0002c0060t0012 | a0002c0060t0012g0284 | 1 | 363 | 0.0028 | -66 | c.118 others(85): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARHGEF18_chr19_7343937_7477478 | 7362107 | GAGAAGGA others(59): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01496.hp2 HG02735.hp2 others(7): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0021others(3): Show | a0001c0001t0002a0001c0001t0011a0001c0002t0003others(4): Show | a0001c0001t0002g0126a0001c0001t0002g0164a0001c0001t0011g0034others(7): Show | 10 | 298 | 0.0336 | -66 | c.-11 others(83): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ARHGEF28_chr5_73621196_73946990 | 73741363 | GTGTGTGT others(59): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG03471.hp1 |
a0004 | a0004c0004a0004c0018 | a0004c0004t0001a0004c0018t0001 | a0004c0004t0001g0170a0004c0018t0001g0179 | 2 | 188 | 0.0106 | -66 | c.34- others(81): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ATG2B_chr14_96274195_96368341 | 96308191 | TATATATA others(59): Show |
T | intron_variant | MODIFIER | HG03688.hp2 | a0004 | a0004c0041 | a0004c0041t0063 | a0004c0041t0063g0340 | 1 | 356 | 0.0028 | -66 | c.430 others(85): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160653365 | CGTACATA others(59): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0007 | a0003c0007t0013 | a0003c0007t0013g0197 | 1 | 236 | 0.0042 | -66 | c.676 others(83): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160653398 | CGTACATA others(59): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(29): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0018others(9): Show | a0001c0001t0001g0067a0001c0001t0001g0077a0001c0001t0001g0078others(29): Show | 32 | 236 | 0.1356 | -66 | c.676 others(83): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160653439 | CATACATA others(59): Show |
C | intron_variant | MODIFIER | NA19007.hp2 NA20752.hp1 |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0003a0010c0014t0028 | a0001c0001t0003g0103a0010c0014t0028g0141 | 2 | 236 | 0.0085 | -66 | c.676 others(83): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
| ATP6V0D2_chr8_86093910_86159225 | 86145195 | AAAAGAAA others(59): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0302 | 1 | 360 | 0.0028 | -66 | c.639 others(83): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V1E2_chr2_46506847_46547577 | 46546453 | TATATATA others(59): Show |
T | upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0059 | 1 | 410 | 0.0024 | -66 | c.-46 others(77): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3877 | chr2 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50072961 | TCTCTCTC others(59): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0251 | 1 | 254 | 0.0039 | -66 | c.87+ others(81): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
| AUTS2_chr7_69593475_70798506 | 69786172 | GGCTAAAG others(59): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0036 | a0002c0002t0036g0017 | 1 | 76 | 0.0132 | -66 | c.310 others(87): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AVEN_chr15_33861227_34044204 | 34018831 | ACTGATTG others(59): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01169.hp2 others(21): Show |
a0001a0004a0008 | a0001c0001a0004c0004a0008c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0114others(21): Show | 24 | 266 | 0.0902 | -66 | c.268 others(85): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
| AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(59): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG06807.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0001 | a0002c0002t0002g0068a0002c0002t0002g0127a0002c0002t0002g0128others(1): Show | 4 | 446 | 0.0090 | -66 | c.287 others(81): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
| B4GALNT3_chr12_454939_568509 | 545785 | TAAGAGGA others(59): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0025 | 1 | 394 | 0.0025 | -66 | c.639 others(81): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | chr12 | TogoVar | ||||||
| B4GALNT3_chr12_454939_568509 | 545851 | AGCGAGGA others(59): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02273.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0026 | a0001c0001t0002g0054a0001c0002t0026g0111 | 2 | 394 | 0.0051 | -66 | c.639 others(81): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BAG1_chr9_33247471_33269708 | 33251886 | GAGAAGGG others(59): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(182): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0012others(56): Show | 185 | 348 | 0.5316 | -66 | c.*32 others(77): Show |
BAG1 | ENSG00000107262.26 | transcript | ENST00000634734.3 | protein_coding | 584 | chr9 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60467252 | ATGGTGGT others(59): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0219 | 1 | 262 | 0.0038 | -66 | c.487 others(83): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| BCOR_chrX_40046251_40102958 | 40046522 | TTATATAT others(59): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0070a0001c0001t0003g0163a0001c0001t0004g0030others(2): Show | 5 | 257 | 0.0195 | -66 | c.*55 others(77): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4728 | chrX | TogoVar | ||||||
| BDH1_chr3_197504783_197560968 | 197513320 | GGGGAGGG others(59): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0147 | a0001c0001t0147g0039 | 1 | 319 | 0.0031 | -66 | c.562 others(81): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 7/7 | chr3 | TogoVar | ||||||
| BDH1_chr3_197504783_197560968 | 197560902 | TGACCTGG others(59): Show |
T | upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0170 | a0001c0001t0170g0226 | 1 | 319 | 0.0031 | -66 | c.-53 others(77): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 4935 | chr3 | TogoVar | ||||||
| BICD1_chr12_32101847_32388633 | 32346572 | ATATATAT others(59): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0007 | a0001c0007t0050 | a0001c0007t0050g0186 | 1 | 290 | 0.0035 | -66 | c.276 others(85): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BOP1_chr8_144257045_144296438 | 144286372 | ACAGGACA others(59): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 398 | 0.0025 | -66 | c.309 others(83): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
| BRD1_chr22_49768283_49832873 | 49815954 | AGTGCCAC others(59): Show |
A | intron_variant | MODIFIER | NA18939.hp1 NA18947.hp1 NA18980.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182a0001c0001t0001g0183a0001c0001t0001g0184others(1): Show | 4 | 258 | 0.0155 | -66 | c.136 others(85): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
| BRD8_chr5_138134770_138183630 | 138143607 | TGCTCTGT others(59): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(123): Show |
a0001a0009a0011 | a0001c0002a0001c0006a0009c0014others(1): Show | a0001c0002t0001a0001c0006t0001a0009c0014t0001others(1): Show | a0001c0002t0001g0001a0001c0002t0001g0003a0001c0002t0001g0004others(116): Show | 126 | 378 | 0.3333 | -66 | c.343 others(85): Show |
BRD8 | ENSG00000112983.18 | transcript | ENST00000254900.10 | protein_coding | 25/26 | chr5 | TogoVar | ||||||
| BRD9_chr5_858741_897801 | 897138 | CGGCTTCA others(59): Show |
C | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 364 | 0.0028 | -66 | c.-45 others(77): Show |
BRD9 | ENSG00000028310.18 | transcript | ENST00000467963.6 | protein_coding | 4338 | chr5 | TogoVar | ||||||
| BRD9_chr5_858741_897801 | 897411 | TCAGTCAG others(59): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00639.hp2 others(8): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0006c0011t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0015others(7): Show | 11 | 364 | 0.0302 | -66 | c.-48 others(77): Show |
BRD9 | ENSG00000028310.18 | transcript | ENST00000467963.6 | protein_coding | 4611 | chr5 | TogoVar | ||||||
| BRSK1_chr19_55278997_55317562 | 55286489 | AGGGGCAA others(59): Show |
A | intron_variant | MODIFIER | NA19012.hp2 NA19054.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0154a0001c0002t0002g0153 | 2 | 338 | 0.0059 | -66 | c.137 others(81): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| C10orf143_chr10_130058896_130115830 | 130095119 | ATTCACAA others(59): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02257.hp2 HG02258.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0129a0001c0001t0001g0142others(12): Show | 17 | 394 | 0.0432 | -66 | c.70- others(83): Show |
C10orf143 | ENSG00000237489.5 | transcript | ENST00000637128.2 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
| C1QTNF12_chr1_1237453_1251722 | 1248839 | CCGAGGGA others(59): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 328 | 0.0031 | -66 | c.-22 others(77): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 2118 | chr1 | TogoVar | ||||||
| C1QTNF12_chr1_1237453_1251722 | 1248881 | AACGGGCA others(59): Show |
A | upstream_gene_variant | MODIFIER | HG03516.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0116 | 2 | 328 | 0.0061 | -66 | c.-22 others(77): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 2160 | chr1 | TogoVar |