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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPTB_chr14_64741283_64884907 | 64822374 | T | TCTCTCAC others(171): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0051 | 1 | 268 | 0.0037 | 178 | c.148 others(193): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64822374 | T | TCTCTCTC others(171): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0006 | a0002c0006t0011 | a0002c0006t0011g0181 | 1 | 268 | 0.0037 | 178 | c.148 others(193): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | |||||||
ST7_chr7_116948501_117235176 | 117031407 | C | CGCATATA others(171): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 188 | 0.0053 | 178 | c.152 others(197): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ST7_chr7_116948501_117235176 | 117031407 | C | CGCATATA others(171): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 188 | 0.0053 | 178 | c.152 others(197): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STARD6_chr18_54319492_54362858 | 54343730 | G | GGCCCCCC others(171): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 350 | 0.0029 | 178 | c.141 others(195): Show |
STARD6 | ENSG00000174448.9 | transcript | ENST00000307844.4 | protein_coding | 4/7 | chr18 | TogoVar | |||||||
SULT1B1_chr4_69716167_69765620 | 69762362 | G | GGGGGGGT others(171): Show |
upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0239 | 1 | 408 | 0.0025 | 178 | c.-19 others(189): Show |
SULT1B1 | ENSG00000173597.9 | transcript | ENST00000310613.8 | protein_coding | 1743 | chr4 | TogoVar | |||||||
SULT1B1_chr4_69716167_69765620 | 69762362 | G | GGGGGGGT others(171): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG01175.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011a0001c0001t0020others(7): Show | a0001c0001t0008g0078 a0001c0001t0008g0079 a0001c0001t0008g0117 others(10): Show |
13 | 408 | 0.0319 | 178 | c.-19 others(189): Show |
SULT1B1 | ENSG00000173597.9 | transcript | ENST00000310613.8 | protein_coding | 1743 | chr4 | TogoVar | |||||||
SULT1B1_chr4_69716167_69765620 | 69762362 | G | GGGGGGTC others(171): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG04199.hp1 NA18971.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0023others(1): Show | a0001c0001t0005g0096 a0001c0001t0005g0098 a0001c0001t0012g0091 others(2): Show |
5 | 408 | 0.0123 | 178 | c.-19 others(189): Show |
SULT1B1 | ENSG00000173597.9 | transcript | ENST00000310613.8 | protein_coding | 1743 | chr4 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90884250 | C | CATACACA others(171): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0004 | a0001c0004t0030 | a0001c0004t0030g0100 | 1 | 376 | 0.0027 | 178 | c.158 others(197): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYNJ2BP_chr14_70361499_70422090 | 70412522 | G | GTATATAT others(171): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0070 others(16): Show |
27 | 364 | 0.0742 | 178 | c.64+ others(193): Show |
SYNJ2BP | ENSG00000213463.5 | transcript | ENST00000256366.6 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61982644 | A | ACCCACCC others(171): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0012 | a0012c0034 | a0012c0034t0001 | a0012c0034t0001g0306 | 1 | 314 | 0.0032 | 178 | c.309 others(197): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TBATA_chr10_70766238_70790377 | 70767660 | A | AAGAAAGA others(171): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0214 | 1 | 410 | 0.0024 | 178 | c.*37 others(189): Show |
TBATA | ENSG00000166220.14 | transcript | ENST00000456372.4 | protein_coding | 3577 | chr10 | TogoVar | |||||||
TBATA_chr10_70766238_70790377 | 70767662 | G | GAAAGAAA others(171): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 410 | 0.0024 | 178 | c.*37 others(189): Show |
TBATA | ENSG00000166220.14 | transcript | ENST00000456372.4 | protein_coding | 3575 | chr10 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 77992796 | C | CACTCCCC others(171): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 280 | 0.0036 | 178 | c.*53 others(189): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2188 | chr15 | TogoVar | |||||||
TCN2_chr22_30602174_30632271 | 30623923 | T | TACACACA others(171): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG01257.hp2 others(2): Show |
a0009 | a0009c0009 | a0009c0009t0003a0009c0009t0016 | a0009c0009t0003g0026 a0009c0009t0003g0102 a0009c0009t0003g0106 others(1): Show |
5 | 466 | 0.0107 | 178 | c.122 others(195): Show |
TCN2 | ENSG00000185339.10 | transcript | ENST00000215838.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCN2_chr22_30602174_30632271 | 30623923 | T | TACACACA others(171): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0339 | 1 | 466 | 0.0022 | 178 | c.122 others(195): Show |
TCN2 | ENSG00000185339.10 | transcript | ENST00000215838.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TENM2_chr5_166974029_168269157 | 167427641 | G | GGGAAGAA others(171): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001a0005 | a0001c0006a0001c0018a0005c0009 | a0001c0006t0004a0001c0018t0003a0005c0009t0003 | a0001c0006t0004g0026 a0001c0006t0004g0028 a0001c0018t0003g0023 others(1): Show |
4 | 54 | 0.0741 | 178 | c.502 others(197): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1272985 | C | CAACCGCC others(171): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03195.hp1 NA18963.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 a0001c0001t0001g0174 a0001c0001t0001g0187 others(2): Show |
5 | 392 | 0.0128 | 178 | c.228 others(195): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376741 | T | TCTGTGCC others(171): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0271 | 1 | 370 | 0.0027 | 178 | c.-77 others(187): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 716 | chr19 | TogoVar | |||||||
THSD4_chr15_71110471_71788383 | 71769148 | C | CGGCCCCC others(171): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 116 | 0.0086 | 178 | c.277 others(197): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 16/17 | chr15 | TogoVar | |||||||
TIMM22_chr17_992129_1008671 | 993432 | A | ACTCACAT others(171): Show |
upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 439 | 0.0023 | 178 | c.-37 others(189): Show |
TIMM22 | ENSG00000177370.5 | transcript | ENST00000327158.5 | protein_coding | 3696 | chr17 | TogoVar | |||||||
TLR10_chr4_38767238_38787990 | 38770789 | A | ATATATAT others(171): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0016 | 1 | 438 | 0.0023 | 178 | c.*23 others(189): Show |
TLR10 | ENSG00000174123.11 | transcript | ENST00000308973.9 | protein_coding | 1448 | chr4 | TogoVar | |||||||
TM4SF1_chr3_149364022_149382649 | 149380307 | G | GCCCCCTC others(171): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 434 | 0.0023 | 178 | c.-27 others(189): Show |
TM4SF1 | ENSG00000169908.12 | transcript | ENST00000305366.8 | protein_coding | 2659 | chr3 | TogoVar | |||||||
TM4SF1_chr3_149364022_149382649 | 149380522 | G | GGGGGGGG others(171): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01261.hp2 HG01981.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0004g0022 |
7 | 434 | 0.0161 | 178 | c.-29 others(189): Show |
TM4SF1 | ENSG00000169908.12 | transcript | ENST00000305366.8 | protein_coding | 2874 | chr3 | TogoVar | |||||||
TM4SF1_chr3_149364022_149382649 | 149380522 | G | GGGGGGGG others(171): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG02738.hp2 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(2): Show |
5 | 434 | 0.0115 | 178 | c.-29 others(189): Show |
TM4SF1 | ENSG00000169908.12 | transcript | ENST00000305366.8 | protein_coding | 2874 | chr3 | TogoVar | |||||||
TM4SF5_chr17_4766886_4788211 | 4781203 | A | ACCTGTAA others(171): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0098 |
3 | 454 | 0.0066 | 178 | c.258 others(193): Show |
TM4SF5 | ENSG00000142484.7 | transcript | ENST00000270560.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747431 | G | GCACTGGG others(171): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0130 | 1 | 314 | 0.0032 | 178 | c.189 others(193): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747572 | C | CTGGGGTA others(171): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033 | a0001c0001t0002g0136 a0001c0001t0033g0135 |
2 | 314 | 0.0064 | 178 | c.189 others(193): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
TMEM132C_chr12_128262170_128712911 | 128708131 | G | GCTCAAAG others(171): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG02257.hp2 HG02280.hp2 others(4): Show |
a0004a0007a0009others(2): Show | a0004c0013a0007c0028a0007c0077others(3): Show | a0004c0013t0001a0007c0028t0001a0007c0077t0001others(3): Show | a0004c0013t0001g0016 a0007c0028t0001g0078 a0007c0077t0001g0147 others(4): Show |
7 | 170 | 0.0412 | 178 | c.*18 others(189): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 221 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129089390 | C | CGGGGCGT others(171): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0009 | 1 | 94 | 0.0106 | 178 | c.144 others(197): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | |||||||
TMEM65_chr8_124301189_124377701 | 124302282 | A | ATATAAAT others(171): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0048 | a0001c0001t0021g0256 a0001c0001t0048g0163 |
2 | 348 | 0.0058 | 178 | c.*11 others(191): Show |
TMEM65 | ENSG00000164983.9 | transcript | ENST00000297632.8 | protein_coding | 3906 | chr8 | TogoVar | |||||||
TMTC2_chr12_82681906_83139866 | 82997370 | A | ATATATAT others(171): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0032 | 1 | 96 | 0.0104 | 178 | c.207 others(199): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMTC3_chr12_88137307_88204887 | 88185706 | C | CTCCTGCC others(171): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0081 | 1 | 242 | 0.0041 | 178 | c.143 others(197): Show |
TMTC3 | ENSG00000139324.12 | transcript | ENST00000266712.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TNFRSF18_chr1_1198508_1211592 | 1202060 | G | GAGCCCAG others(171): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG03225.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 a0002c0002t0002g0010 |
2 | 386 | 0.0052 | 178 | c.*17 others(189): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1447 | chr1 | TogoVar | |||||||
TNFRSF18_chr1_1198508_1211592 | 1202098 | G | GAGCCCAG others(171): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 386 | 0.0026 | 178 | c.*17 others(189): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1409 | chr1 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507587 | G | GTGTATAC others(171): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0035 | a0001c0001t0001g0027 a0001c0001t0001g0209 a0001c0001t0001g0210 others(5): Show |
9 | 388 | 0.0232 | 178 | c.-23 others(195): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRANK1_chr3_36821819_36950054 | 36879825 | T | TATATAAA others(171): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0322 a0001c0003t0001g0324 a0001c0003t0001g0325 others(1): Show |
4 | 330 | 0.0121 | 178 | c.908 others(195): Show |
TRANK1 | ENSG00000168016.15 | transcript | ENST00000645898.2 | protein_coding | 8/23 | chr3 | TogoVar | |||||||
TRPC4AP_chr20_34997404_35097807 | 35097370 | T | TATACACA others(171): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0263 | 1 | 334 | 0.0030 | 178 | c.-45 others(189): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4564 | chr20 | TogoVar | |||||||
TRPM2_chr21_44348621_44447644 | 44369495 | C | CCGGGGTG others(171): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0005 | 1 | 44 | 0.0227 | 178 | c.771 others(193): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53415694 | T | TTATATAT others(171): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 174 | 0.0058 | 178 | c.*9- others(195): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TTLL10_chr1_1168880_1202936 | 1202060 | G | GAGCCCAG others(171): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0038 | 1 | 382 | 0.0026 | 178 | c.*42 others(189): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4125 | chr1 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028631 | T | TACCCTCG others(171): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0051 |
2 | 224 | 0.0089 | 178 | c.225 others(197): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TULP4_chr6_158307465_158516828 | 158331720 | C | CGTATATA others(171): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 268 | 0.0037 | 178 | c.252 others(197): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870806 | C | CACACCAC others(171): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 338 | 0.0030 | 178 | c.*35 others(197): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52529494 | C | CTATATAT others(171): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 238 | 0.0042 | 178 | c.392 others(195): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
U2SURP_chr3_142996570_143065725 | 143047275 | A | ACCCCCCC others(171): Show |
intron_variant | MODIFIER | HG02293.hp2 NA18947.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0284 a0001c0001t0003g0298 a0001c0001t0003g0313 |
3 | 378 | 0.0079 | 178 | c.254 others(197): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 143047275 | A | ACCCCCCC others(171): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0285 | 1 | 378 | 0.0027 | 178 | c.254 others(197): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 143047275 | A | ACCCCCCC others(171): Show |
intron_variant | MODIFIER | HG03834.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0263 a0001c0001t0003g0329 |
2 | 378 | 0.0053 | 178 | c.254 others(197): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 143047275 | A | ACCCCCCC others(171): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271 | 1 | 378 | 0.0027 | 178 | c.254 others(197): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UBE2U_chr1_64198623_64272368 | 64239065 | A | AGAGGAAG others(171): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226 | 1 | 330 | 0.0030 | 178 | c.596 others(195): Show |
UBE2U | ENSG00000177414.14 | transcript | ENST00000371077.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |