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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC22A9_chr11_63364785_63415294 | 63378230 | A | AGAAAAAA others(338): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0164 | 1 | 346 | 0.0029 | 345 | c.954 others(362): Show |
SLC22A9 | ENSG00000149742.10 | transcript | ENST00000279178.4 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SLC9A3_chr5_465456_529449 | 507665 | T | TCCCCACA others(338): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0062 | 1 | 218 | 0.0046 | 345 | c.212 others(364): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
SLC9A3_chr5_465456_529449 | 507670 | A | ACAGACGC others(338): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 218 | 0.0046 | 345 | c.212 others(364): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
SLC9A3_chr5_465456_529449 | 507670 | A | ACAGACGC others(338): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01934.hp2 HG02165.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0028a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0028t0011others(1): Show | a0001c0001t0001g0087a0001c0001t0004g0086a0001c0028t0011g0085others(1): Show | 4 | 218 | 0.0184 | 345 | c.212 others(364): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45363298 | A | AGTGAAAT others(338): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0068 | 1 | 360 | 0.0028 | 345 | c.242 others(362): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 15/24 | chr22 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222488 | G | GCGGCGCA others(338): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0131 | 1 | 190 | 0.0053 | 345 | c.719 others(364): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222907 | A | AGCGGCGC others(338): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 190 | 0.0053 | 345 | c.719 others(364): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1222982 | T | TGCAGTGA others(338): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 190 | 0.0053 | 345 | c.719 others(364): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1223189 | T | TGGTGCAG others(338): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18970.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0040a0004c0004t0001g0134 | 2 | 190 | 0.0105 | 345 | c.719 others(364): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1223209 | T | TCTCCCTG others(338): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0036 | 1 | 190 | 0.0053 | 345 | c.719 others(364): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPIDR_chr8_47255938_47741306 | 47607924 | A | ATCTCTAT others(338): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0065 | 1 | 216 | 0.0046 | 345 | c.154 others(364): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(338): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0225 | 1 | 260 | 0.0039 | 345 | c.138 others(364): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(338): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0009 | a0009c0021 | a0009c0021t0002 | a0009c0021t0002g0245 | 1 | 260 | 0.0039 | 345 | c.138 others(364): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
SQLE_chr8_124993505_125027283 | 125011861 | A | AGAGAAGG others(338): Show |
intron_variant | MODIFIER | HG00673.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 2 | 378 | 0.0053 | 345 | c.120 others(362): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ST6GALNAC5_chr1_76862480_77072546 | 77003279 | T | TTAAAGTC others(338): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01255.hp1 others(8): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0026a0001c0001t0002g0003others(8): Show | 11 | 202 | 0.0545 | 345 | c.262 others(364): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ST6GALNAC5_chr1_76862480_77072546 | 77003279 | T | TTAAAGTC others(338): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18944.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109a0001c0001t0002g0110a0001c0001t0002g0127 | 3 | 202 | 0.0149 | 345 | c.262 others(364): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STK31_chr7_23705219_23837513 | 23743123 | T | TTGTACTT others(338): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0089 | 1 | 404 | 0.0025 | 345 | c.101 others(364): Show |
STK31 | ENSG00000196335.13 | transcript | ENST00000355870.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
STK33_chr11_8386870_8599228 | 8424809 | A | ATCCTTTG others(338): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0197 | 1 | 334 | 0.0030 | 345 | c.114 others(366): Show |
STK33 | ENSG00000130413.16 | transcript | ENST00000687296.1 | protein_coding | 14/15 | chr11 | TogoVar | ||||||
STPG4_chr2_47081991_47160308 | 47092141 | T | TGCATTTT others(338): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG01169.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0001g0223others(5): Show | 8 | 352 | 0.0227 | 345 | c.520 others(362): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45292725 | T | TAAAAAAG others(338): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02015.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0078a0001c0001t0001g0216others(1): Show | 4 | 262 | 0.0153 | 345 | c.101 others(364): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110564792 | C | CAGAAGAT others(338): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02074.hp1 NA19005.hp1 |
a0001a0012a0026 | a0001c0002a0012c0009a0026c0124 | a0001c0002t0002a0012c0009t0001a0026c0124t0002 | a0001c0002t0002g0336a0012c0009t0001g0218a0026c0124t0002g0241 | 3 | 362 | 0.0083 | 345 | c.531 others(364): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 1/47 | chr9 | TogoVar | ||||||
SYN2_chr3_11999388_12197032 | 12095548 | A | AAAAAAAA others(338): Show |
intron_variant | MODIFIER | NA18981.hp2 NA19003.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068a0002c0002t0001g0074 | 2 | 264 | 0.0076 | 345 | c.378 others(364): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63555274 | A | AAGAAAAA others(338): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0125 | 1 | 246 | 0.0041 | 345 | c.210 others(362): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TAFA4_chr3_68726766_68937547 | 68781188 | C | CAAGAAAG others(338): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 316 | 0.0032 | 345 | c.131 others(364): Show |
TAFA4 | ENSG00000163377.16 | transcript | ENST00000295569.12 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
TATDN1_chr8_124483498_124544085 | 124505882 | A | ATCGAAAT others(338): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02055.hp1 HG02055.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037a0001c0002t0001g0038a0001c0002t0001g0071 | 3 | 338 | 0.0089 | 345 | c.517 others(362): Show |
TATDN1 | ENSG00000147687.19 | transcript | ENST00000276692.11 | protein_coding | 8/11 | chr8 | TogoVar | ||||||
TBC1D19_chr4_26579084_26761223 | 26652243 | G | GGATTCCC others(338): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0110 | 2 | 310 | 0.0065 | 345 | c.481 others(362): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TCF12_chr15_56913644_57294853 | 57075835 | T | TTTTCTTT others(338): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 330 | 0.0030 | 345 | c.222 others(364): Show |
TCF12 | ENSG00000140262.18 | transcript | ENST00000333725.10 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
TENM4_chr11_78647829_79446030 | 79138808 | C | CCTTATAT others(338): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0037 | 1 | 94 | 0.0106 | 345 | c.-66 others(362): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | ||||||
TFRC_chr3_196044284_196087090 | 196072710 | T | TAAAGAAT others(338): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0293 | 1 | 384 | 0.0026 | 345 | c.435 others(360): Show |
TFRC | ENSG00000072274.14 | transcript | ENST00000360110.9 | protein_coding | 4/18 | chr3 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377345 | G | GCCCCACC others(338): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0327 | 1 | 370 | 0.0027 | 345 | c.-13 others(356): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1320 | chr19 | TogoVar | ||||||
TMEFF2_chr2_191944046_192199933 | 191975313 | T | TAAGATTT others(338): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 164 | 0.0061 | 345 | c.746 others(364): Show |
TMEFF2 | ENSG00000144339.12 | transcript | ENST00000272771.10 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
TMEFF2_chr2_191944046_192199933 | 191975313 | T | TAAGATTT others(338): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 164 | 0.0061 | 345 | c.746 others(364): Show |
TMEFF2 | ENSG00000144339.12 | transcript | ENST00000272771.10 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
TMEM131_chr2_97751336_98000948 | 97880138 | A | AAAAAACT others(338): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0134 | 1 | 284 | 0.0035 | 345 | c.359 others(362): Show |
TMEM131 | ENSG00000075568.17 | transcript | ENST00000186436.10 | protein_coding | 4/40 | chr2 | TogoVar | ||||||
TMEM132C_chr12_128262170_128712911 | 128626445 | A | ATTTTTAT others(338): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0004 | a0004c0059 | a0004c0059t0002 | a0004c0059t0002g0062 | 1 | 170 | 0.0059 | 345 | c.130 others(366): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132C_chr12_128262170_128712911 | 128626445 | A | ATTTTTAT others(338): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0073 | a0003c0073t0009 | a0003c0073t0009g0066 | 1 | 170 | 0.0059 | 345 | c.130 others(366): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM178B_chr7_141069064_141485380 | 141337026 | T | TCACCACC others(338): Show |
intron_variant | MODIFIER | HG01952.hp2 HG03516.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0010a0001c0002t0042 | a0001c0001t0004g0023a0001c0001t0010g0021a0001c0002t0042g0054 | 3 | 80 | 0.0375 | 345 | c.497 others(366): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TMEM41B_chr11_9275654_9319593 | 9309513 | C | CAGAGCTT others(338): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0159 | 1 | 370 | 0.0027 | 345 | c.121 others(362): Show |
TMEM41B | ENSG00000166471.11 | transcript | ENST00000528080.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
TRAPPC9_chr8_139722725_140462744 | 140037951 | G | GAAAGCTG others(338): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03195.hp2 HG04115.hp1 |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0002a0001c0003t0011a0001c0005t0004 | a0001c0002t0002g0049a0001c0003t0011g0011a0001c0005t0004g0056 | 3 | 98 | 0.0306 | 345 | c.255 others(366): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 17/22 | chr8 | TogoVar | ||||||
TRERF1_chr6_42219931_42456926 | 42279462 | T | TAAAGATA others(338): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0014 | a0014c0032 | a0014c0032t0016 | a0014c0032t0016g0049 | 1 | 180 | 0.0056 | 345 | c.-25 others(364): Show |
TRERF1 | ENSG00000124496.13 | transcript | ENST00000695948.1 | protein_coding | 4/17 | chr6 | TogoVar | ||||||
TRIM49D1_chr11_89906409_89927245 | 89909183 | T | TAAATATT others(338): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0009a0004c0005t0004g0038 | 4 | 208 | 0.0192 | 345 | c.*24 others(356): Show |
TRIM49D1 | ENSG00000223417.9 | transcript | ENST00000420869.3 | protein_coding | 2225 | chr11 | TogoVar | ||||||
TRIM9_chr14_50970266_51100105 | 51004130 | A | ATTTTTAC others(338): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 342 | 0.0029 | 345 | c.130 others(364): Show |
TRIM9 | ENSG00000100505.14 | transcript | ENST00000684578.1 | protein_coding | 5/12 | chr14 | TogoVar | ||||||
TRNAU1AP_chr1_28548085_28583545 | 28571786 | A | AAAAATAA others(338): Show |
intron_variant | MODIFIER | HG02300.hp1 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159a0001c0001t0002g0167 | 2 | 296 | 0.0068 | 345 | c.694 others(358): Show |
TRNAU1AP | ENSG00000180098.9 | transcript | ENST00000373830.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TRNAU1AP_chr1_28548085_28583545 | 28571786 | A | AAAAATAA others(338): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 296 | 0.0034 | 345 | c.694 others(358): Show |
TRNAU1AP | ENSG00000180098.9 | transcript | ENST00000373830.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TRPM7_chr15_50552158_50691797 | 50564261 | A | AATAACAT others(338): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0304 | 1 | 352 | 0.0028 | 345 | c.546 others(364): Show |
TRPM7 | ENSG00000092439.16 | transcript | ENST00000646667.1 | protein_coding | 38/38 | chr15 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(338): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 334 | 0.0030 | 345 | c.657 others(360): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TTLL8_chr22_50013575_50063298 | 50028908 | C | CCCCATCA others(338): Show |
intron_variant | MODIFIER | HG01975.hp2 HG01993.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080a0002c0002t0001g0081 | 2 | 224 | 0.0089 | 345 | c.225 others(364): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 34019751 | T | TAAAAGTT others(338): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0346 | 1 | 356 | 0.0028 | 345 | c.-41 others(362): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | ||||||
UBXN1_chr11_62671500_62684073 | 62681099 | T | TCAGGGTT others(338): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | 345 | c.-21 others(356): Show |
UBXN1 | ENSG00000162191.14 | transcript | ENST00000301935.10 | protein_coding | 2027 | chr11 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54508182 | T | TGAAAGTA others(338): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0017 | a0002c0017t0007 | a0002c0017t0007g0049 | 1 | 158 | 0.0063 | 345 | c.537 others(363): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 23/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
USP29_chr19_57114985_57136926 | 57125642 | T | TGAGCCTA others(338): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01952.hp1 NA18944.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0032a0002c0002t0002g0059a0002c0002t0002g0163others(2): Show | 8 | 416 | 0.0192 | 345 | c.-17 others(362): Show |
USP29 | ENSG00000131864.11 | transcript | ENST00000254181.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |