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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBR3_chr2_169822454_170089131 | 170066966 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02015.hp1 HG02698.hp2 others(3): Show |
a0001 | a0001c0006a0001c0010 | a0001c0006t0008a0001c0006t0024a0001c0010t0011 | a0001c0006t0008g0192 a0001c0006t0008g0196 a0001c0006t0008g0197 others(3): Show |
6 | 140 | 0.0429 | 18 | c.501 others(37): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 35/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBR3_chr2_169822454_170089131 | 170066993 | T | TAATAATA others(11): Show |
intron_variant | MODIFIER | HG03486.hp1 HG06807.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0238 a0001c0003t0002g0239 |
2 | 216 | 0.0093 | 18 | c.501 others(37): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 35/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBR3_chr2_169822454_170089131 | 170066993 | T | TAATAATA others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01255.hp2 HG02027.hp1 others(10): Show |
a0001 | a0001c0001a0001c0009a0001c0020 | a0001c0001t0001a0001c0001t0006a0001c0009t0002others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 others(10): Show |
13 | 227 | 0.0573 | 18 | c.501 others(37): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 35/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBR3_chr2_169822454_170089131 | 170087173 | T | TACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 NA18971.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0168 a0001c0002t0002g0173 |
2 | 177 | 0.0113 | 18 | c.*53 others(29): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 3043 | chr2 | TogoVar | |||||||
UBR4_chr1_19069510_19215266 | 19145501 | C | CCAGAGAC others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02622.hp2 HG02683.hp2 others(6): Show |
a0001a0006 | a0001c0001a0001c0008a0001c0033others(1): Show | a0001c0001t0001a0001c0008t0001a0001c0033t0001others(1): Show | a0001c0001t0001g0142 a0001c0001t0001g0193 a0001c0001t0001g0199 others(6): Show |
9 | 245 | 0.0367 | 18 | c.794 others(35): Show |
UBR4 | ENSG00000127481.15 | transcript | ENST00000375254.8 | protein_coding | 53/105 | chr1 | TogoVar | |||||||
UBR4_chr1_19069510_19215266 | 19145508 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 NA19003.hp2 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0162 a0002c0006t0001g0281 |
2 | 107 | 0.0187 | 18 | c.794 others(35): Show |
UBR4 | ENSG00000127481.15 | transcript | ENST00000375254.8 | protein_coding | 53/105 | chr1 | TogoVar | |||||||
UBR4_chr1_19069510_19215266 | 19190312 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 155 | 0.0065 | 18 | c.139 others(37): Show |
UBR4 | ENSG00000127481.15 | transcript | ENST00000375254.8 | protein_coding | 11/105 | chr1 | TogoVar | |||||||
UBR4_chr1_19069510_19215266 | 19190312 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 155 | 0.0065 | 18 | c.139 others(37): Show |
UBR4 | ENSG00000127481.15 | transcript | ENST00000375254.8 | protein_coding | 11/105 | chr1 | TogoVar | |||||||
UBR4_chr1_19069510_19215266 | 19190312 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03139.hp1 NA18939.hp1 others(3): Show |
a0001a0028 | a0001c0001a0028c0027 | a0001c0001t0001a0028c0027t0001 | a0001c0001t0001g0181 a0001c0001t0001g0253 a0001c0001t0001g0288 others(3): Show |
6 | 160 | 0.0375 | 18 | c.139 others(37): Show |
UBR4 | ENSG00000127481.15 | transcript | ENST00000375254.8 | protein_coding | 11/105 | chr1 | TogoVar | |||||||
UBR4_chr1_19069510_19215266 | 19190312 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00642.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0001g0219 others(7): Show |
10 | 164 | 0.0610 | 18 | c.139 others(37): Show |
UBR4 | ENSG00000127481.15 | transcript | ENST00000375254.8 | protein_coding | 11/105 | chr1 | TogoVar | |||||||
UBR4_chr1_19069510_19215266 | 19190312 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0037a0001c0055 | a0001c0001t0001a0001c0037t0001a0001c0055t0001 | a0001c0001t0001g0141 a0001c0001t0001g0215 a0001c0001t0001g0227 others(4): Show |
7 | 161 | 0.0435 | 18 | c.139 others(37): Show |
UBR4 | ENSG00000127481.15 | transcript | ENST00000375254.8 | protein_coding | 11/105 | chr1 | TogoVar | |||||||
UBR4_chr1_19069510_19215266 | 19195266 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03540.hp1 |
a0002a0024 | a0002c0007a0024c0049 | a0002c0007t0001a0024c0049t0002 | a0002c0007t0001g0146 a0024c0049t0002g0005 |
2 | 4 | 0.5000 | 18 | c.101 others(37): Show |
UBR4 | ENSG00000127481.15 | transcript | ENST00000375254.8 | protein_coding | 8/105 | chr1 | TogoVar | |||||||
UBR4_chr1_19069510_19215266 | 19195969 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0085 | 1 | 58 | 0.0172 | 18 | c.101 others(37): Show |
UBR4 | ENSG00000127481.15 | transcript | ENST00000375254.8 | protein_coding | 8/105 | chr1 | TogoVar | |||||||
UBR5_chr8_102247273_102417700 | 102283341 | C | CGGGGGGG others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02074.hp2 HG02129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0124 a0001c0001t0001g0140 others(1): Show |
4 | 161 | 0.0248 | 18 | c.569 others(37): Show |
UBR5 | ENSG00000104517.13 | transcript | ENST00000520539.6 | protein_coding | 40/58 | chr8 | TogoVar | |||||||
UBR5_chr8_102247273_102417700 | 102309037 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG02615.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0217 a0001c0001t0001g0233 a0001c0001t0001g0238 others(7): Show |
10 | 122 | 0.0820 | 18 | c.261 others(37): Show |
UBR5 | ENSG00000104517.13 | transcript | ENST00000520539.6 | protein_coding | 20/58 | chr8 | TogoVar | |||||||
UBR5_chr8_102247273_102417700 | 102382825 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18941.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0281 |
2 | 100 | 0.0200 | 18 | c.63- others(35): Show |
UBR5 | ENSG00000104517.13 | transcript | ENST00000520539.6 | protein_coding | 1/58 | chr8 | TogoVar | |||||||
UBTD1_chr10_97493924_97576206 | 97535972 | A | ATTATTAT others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01167.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0004 a0001c0001t0001g0056 a0001c0001t0001g0101 others(30): Show |
34 | 312 | 0.1090 | 18 | c.71- others(35): Show |
UBTD1 | ENSG00000165886.5 | transcript | ENST00000370664.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UBTD1_chr10_97493924_97576206 | 97535979 | T | TTATTATT others(11): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 312 | 0.0032 | 18 | c.71- others(35): Show |
UBTD1 | ENSG00000165886.5 | transcript | ENST00000370664.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UBTD2_chr5_172204646_172288764 | 172263851 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01496.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0198 others(9): Show |
12 | 82 | 0.1463 | 18 | c.70+ others(35): Show |
UBTD2 | ENSG00000168246.6 | transcript | ENST00000393792.3 | protein_coding | 1/2 | chr5 | TogoVar | |||||||
UBTD2_chr5_172204646_172288764 | 172284226 | T | TGGGGGGA others(11): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0178 | 1 | 372 | 0.0027 | 18 | c.-56 others(27): Show |
UBTD2 | ENSG00000168246.6 | transcript | ENST00000393792.3 | protein_coding | 463 | chr5 | TogoVar | |||||||
UBTFL1_chr11_90080950_90092131 | 90082755 | C | CCTTTCTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG02040.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0000 | 2 | 266 | 0.0075 | 18 | c.-31 others(29): Show |
UBTFL1 | ENSG00000255009.4 | transcript | ENST00000530464.2 | protein_coding | 3194 | chr11 | TogoVar | |||||||
UBTF_chr17_44200040_44224675 | 44218594 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 | 1 | 145 | 0.0069 | 18 | c.-67 others(33): Show |
UBTF | ENSG00000108312.16 | transcript | ENST00000436088.6 | protein_coding | 1/20 | chr17 | TogoVar | |||||||
UBXN11_chr1_26277282_26311636 | 26282392 | A | ACCGGGAC others(11): Show |
disruptive_inframe_insertion | MODERATE | NA19080.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0076 | 1 | 366 | 0.0027 | 18 | c.146 others(27): Show |
p.Gly others(31): Show |
UBXN11 | ENSG00000158062.21 | transcript | ENST00000374222.6 | protein_coding | 15/15 | 1549/1660 | 1469/1563 | 490/520 | chr1 | TogoVar | |||
UBXN2A_chr2_23935463_24009909 | 24008984 | A | AAGGCAGA others(11): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0105 | 1 | 248 | 0.0040 | 18 | c.*91 others(29): Show |
UBXN2A | ENSG00000173960.14 | transcript | ENST00000309033.5 | protein_coding | 4076 | chr2 | TogoVar | |||||||
UBXN2B_chr8_58406361_58456501 | 58410668 | G | GTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0251 | 1 | 331 | 0.0030 | 18 | c.-71 others(27): Show |
UBXN2B | ENSG00000215114.10 | transcript | ENST00000399598.7 | protein_coding | 692 | chr8 | TogoVar | |||||||
UBXN2B_chr8_58406361_58456501 | 58441348 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0173 a0001c0001t0006g0156 |
2 | 156 | 0.0128 | 18 | c.671 others(35): Show |
UBXN2B | ENSG00000215114.10 | transcript | ENST00000399598.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UBXN2B_chr8_58406361_58456501 | 58446779 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01243.hp2 HG01884.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0030 | a0001c0001t0001g0190 a0001c0001t0001g0220 a0001c0001t0001g0241 others(2): Show |
5 | 53 | 0.0943 | 18 | c.834 others(33): Show |
UBXN2B | ENSG00000215114.10 | transcript | ENST00000399598.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UBXN4_chr2_135736855_135790056 | 135745875 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03654.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0139 |
2 | 16 | 0.1250 | 18 | c.83- others(33): Show |
UBXN4 | ENSG00000144224.17 | transcript | ENST00000272638.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBXN7_chr3_196342662_196437427 | 196372300 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01358.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 a0001c0001t0003g0146 a0001c0001t0003g0148 others(1): Show |
4 | 113 | 0.0354 | 18 | c.469 others(33): Show |
UBXN7 | ENSG00000163960.12 | transcript | ENST00000296328.9 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
UBXN7_chr3_196342662_196437427 | 196426441 | A | AAATTCCT others(11): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 272 | 0.0037 | 18 | c.73+ others(33): Show |
UBXN7 | ENSG00000163960.12 | transcript | ENST00000296328.9 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
UCHL1_chr4_41251928_41273455 | 41266150 | G | GGGCTCAA others(11): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086 | 1 | 422 | 0.0024 | 18 | c.586 others(35): Show |
UCHL1 | ENSG00000154277.13 | transcript | ENST00000284440.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UCHL3_chr13_75544791_75611020 | 75592419 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 323 | 0.0031 | 18 | c.475 others(35): Show |
UCHL3 | ENSG00000118939.19 | transcript | ENST00000377595.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UCHL3_chr13_75544791_75611020 | 75592427 | T | TATGTATA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02109.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 others(3): Show |
6 | 313 | 0.0192 | 18 | c.475 others(35): Show |
UCHL3 | ENSG00000118939.19 | transcript | ENST00000377595.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UCHL5_chr1_193007254_193064360 | 193043151 | T | TTAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03688.hp2 NA19076.hp2 NA19077.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 others(1): Show |
4 | 32 | 0.1250 | 18 | c.246 others(35): Show |
UCHL5 | ENSG00000116750.14 | transcript | ENST00000367454.6 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
UCK2_chr1_165822614_165916618 | 165879545 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00735.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0052 a0001c0001t0001g0123 a0001c0001t0001g0142 others(29): Show |
33 | 159 | 0.2075 | 18 | c.100 others(37): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165902592 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 36 | 0.0278 | 18 | c.500 others(33): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63947296 | G | GGGGACTC others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 354 | 0.0028 | 18 | c.114 others(33): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
UCMA_chr10_13216766_13239374 | 13221493 | G | GTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01346.hp2 HG02293.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0001g0089 a0001c0001t0002g0062 others(2): Show |
6 | 454 | 0.0132 | 18 | c.*60 others(27): Show |
UCMA | ENSG00000165623.10 | transcript | ENST00000378681.8 | protein_coding | 272 | chr10 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370286 | C | CGTGTATA others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03195.hp1 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 |
3 | 398 | 0.0075 | 18 | c.-6- others(33): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370528 | T | TGTATGTG others(11): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18522.hp1 NA18906.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0010a0002c0002t0023 | a0002c0002t0010g0336 a0002c0002t0010g0337 a0002c0002t0010g0338 others(1): Show |
4 | 323 | 0.0124 | 18 | c.-6- others(33): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370579 | A | ATATGTGT others(11): Show |
intron_variant | MODIFIER | HG04204.hp2 NA19240.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0055 a0002c0002t0002g0074 |
2 | 362 | 0.0055 | 18 | c.-6- others(33): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN_chr2_27302400_27313445 | 27309371 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 110 | 0.0091 | 18 | c.-12 others(29): Show |
UCN | ENSG00000163794.6 | transcript | ENST00000296099.2 | protein_coding | 927 | chr2 | TogoVar | |||||||
UEVLD_chr11_18524609_18593734 | 18560090 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02523.hp1 NA18981.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0167 a0001c0001t0001g0301 a0001c0002t0003g0034 others(1): Show |
4 | 277 | 0.0144 | 18 | c.613 others(35): Show |
UEVLD | ENSG00000151116.17 | transcript | ENST00000396197.8 | protein_coding | 6/11 | chr11 | TogoVar | |||||||
UEVLD_chr11_18524609_18593734 | 18560138 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01261.hp2 HG02965.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0004t0005others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0124 a0001c0001t0001g0226 others(6): Show |
9 | 297 | 0.0303 | 18 | c.613 others(35): Show |
UEVLD | ENSG00000151116.17 | transcript | ENST00000396197.8 | protein_coding | 6/11 | chr11 | TogoVar | |||||||
UEVLD_chr11_18524609_18593734 | 18560138 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 289 | 0.0035 | 18 | c.613 others(35): Show |
UEVLD | ENSG00000151116.17 | transcript | ENST00000396197.8 | protein_coding | 6/11 | chr11 | TogoVar | |||||||
UFSP2_chr4_185394537_185430964 | 185418047 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(134): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0005c0013others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(79): Show |
137 | 159 | 0.8616 | 18 | c.333 others(33): Show |
UFSP2 | ENSG00000109775.11 | transcript | ENST00000264689.11 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
UGCG_chr9_111891814_111940369 | 111912029 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 a0001c0001t0001g0336 |
2 | 85 | 0.0235 | 18 | c.99- others(33): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UGCG_chr9_111891814_111940369 | 111921802 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00639.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0002t0002a0001c0002t0006others(5): Show | a0001c0001t0027g0001 a0001c0001t0027g0080 a0001c0002t0002g0001 others(18): Show |
28 | 64 | 0.4375 | 18 | c.241 others(35): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128095341 | T | TTCTTCTT others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03453.hp1 |
a0001 | a0001c0010 | a0001c0010t0016 | a0001c0010t0016g0155 a0001c0010t0016g0156 |
2 | 330 | 0.0061 | 18 | c.59- others(33): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128095377 | C | CCCTTCCC others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0025 | a0001c0025t0016 | a0001c0025t0016g0244 | 1 | 327 | 0.0031 | 18 | c.59- others(33): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |