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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TNFRSF1B_chr1_12161991_12214220 | 12174160 | T | TCTTCTTC others(44): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 | 1 | 362 | 0.0028 | 51 | c.78+ others(66): Show |
TNFRSF1B | ENSG00000028137.19 | transcript | ENST00000376259.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TNK1_chr17_7376089_7394742 | 7378277 | G | GAGAAAGA others(44): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(48): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0109 others(22): Show |
51 | 452 | 0.1128 | 51 | c.-29 others(62): Show |
TNK1 | ENSG00000174292.13 | transcript | ENST00000688331.1 | protein_coding | 2811 | chr17 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195880718 | A | ACCCCCCC others(44): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0332 | 1 | 372 | 0.0027 | 51 | c.887 others(68): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195880770 | C | CCCCCCAG others(44): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0331 | 1 | 372 | 0.0027 | 51 | c.887 others(68): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195881209 | A | AGGATCTG others(44): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18941.hp1 |
a0001a0002 | a0001c0003a0002c0018 | a0001c0003t0005a0002c0018t0001 | a0001c0003t0005g0197 a0002c0018t0001g0159 |
2 | 372 | 0.0054 | 51 | c.887 others(66): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195881413 | A | AGGATCTG others(44): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0126 | 1 | 372 | 0.0027 | 51 | c.887 others(66): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195881497 | C | CGCCCCTT others(44): Show |
intron_variant | MODIFIER | NA18975.hp2 NA18979.hp2 |
a0001a0005 | a0001c0003a0005c0057 | a0001c0003t0001a0005c0057t0002 | a0001c0003t0001g0148 a0005c0057t0002g0040 |
2 | 372 | 0.0054 | 51 | c.887 others(66): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195881585 | A | ACCCCCCC others(44): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0221 | 1 | 372 | 0.0027 | 51 | c.887 others(66): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195881598 | T | TGCCCCTT others(44): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0158 | 1 | 372 | 0.0027 | 51 | c.887 others(66): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TOX2_chr20_43909852_44074616 | 44048388 | T | TTATATAT others(44): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 288 | 0.0035 | 51 | c.412 others(68): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TPMT_chr6_18123311_18160077 | 18155122 | T | TCCGCGCC others(44): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0215 | 1 | 438 | 0.0023 | 51 | c.-13 others(60): Show |
TPMT | ENSG00000137364.5 | transcript | ENST00000309983.5 | protein_coding | 46 | chr6 | TogoVar | |||||||
TPSD1_chr16_1251069_1264008 | 1260689 | G | GAGCCCGG others(44): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 | a0018 | a0018c0030 | a0018c0030t0033 | a0018c0030t0033g0001 | 1 | 270 | 0.0037 | 51 | c.*23 others(62): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 1682 | chr16 | TogoVar | |||||||
TRAF2_chr9_136881516_136931607 | 136912152 | C | CTTTTTTT others(44): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 310 | 0.0032 | 51 | c.603 others(68): Show |
TRAF2 | ENSG00000127191.18 | transcript | ENST00000247668.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TRAPPC10_chr21_44007309_44111552 | 44107084 | C | CGGAGCGC others(44): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0011 | a0001c0011t0023 | a0001c0011t0023g0053 | 1 | 254 | 0.0039 | 51 | c.*35 others(62): Show |
TRAPPC10 | ENSG00000160218.13 | transcript | ENST00000291574.9 | protein_coding | 533 | chr21 | TogoVar | |||||||
TRAPPC9_chr8_139722725_140462744 | 140272123 | A | ATAGTGAT others(44): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02922.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0007a0001c0009t0021 | a0001c0002t0007g0022 a0001c0009t0021g0042 |
2 | 98 | 0.0204 | 51 | c.227 others(70): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 15/22 | chr8 | TogoVar | |||||||
TRH_chr3_129969720_129982935 | 129971774 | A | AGGGAGGG others(44): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01069.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0004 a0001c0001t0010g0004 |
22 | 416 | 0.0529 | 51 | c.-30 others(62): Show |
TRH | ENSG00000170893.4 | transcript | ENST00000302649.4 | protein_coding | 2945 | chr3 | TogoVar | |||||||
TRIM4_chr7_99885403_99924530 | 99888358 | C | CCCGGACA others(44): Show |
downstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 322 | 0.0031 | 51 | c.*38 others(62): Show |
TRIM4 | ENSG00000146833.16 | transcript | ENST00000349062.7 | protein_coding | 2044 | chr7 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152035 | A | AGTGAGAG others(44): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 228 | 0.0044 | 51 | c.*46 others(62): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4293 | chr4 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152041 | A | AGTGGGGT others(44): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 228 | 0.0044 | 51 | c.*46 others(62): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4299 | chr4 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152475 | T | TGGGTGGT others(44): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0126 | 1 | 228 | 0.0044 | 51 | c.*51 others(62): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4733 | chr4 | TogoVar | |||||||
TRIO_chr5_14138342_14515204 | 14347220 | C | CTGGACCA others(44): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0101 | 1 | 198 | 0.0051 | 51 | c.204 others(72): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRMT10B_chr9_37748805_37783972 | 37777254 | C | CCCAGCTT others(44): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 388 | 0.0026 | 51 | c.845 others(66): Show |
TRMT10B | ENSG00000165275.10 | transcript | ENST00000297994.4 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TRMT12_chr8_124445820_124458026 | 124455068 | A | ATATATAT others(44): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0000 | 1 | 406 | 0.0025 | 51 | c.*27 others(62): Show |
TRMT12 | ENSG00000183665.5 | transcript | ENST00000328599.4 | protein_coding | 2043 | chr8 | TogoVar | |||||||
TRPM2_chr21_44348621_44447644 | 44396711 | A | AGGGATGT others(44): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 44 | 0.0227 | 51 | c.193 others(70): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TRPS1_chr8_115403496_115673975 | 115535293 | T | TAGCATAT others(44): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0088 | 1 | 192 | 0.0052 | 51 | c.270 others(72): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPV3_chr17_3505502_3562812 | 3535278 | C | CTCCCTCC others(44): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0006 | a0006c0033 | a0006c0033t0002 | a0006c0033t0002g0217 a0006c0033t0002g0218 |
2 | 404 | 0.0050 | 51 | c.784 others(66): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 7/17 | chr17 | TogoVar | |||||||
TSPAN18_chr11_44721962_44937423 | 44908754 | G | GAAAGGAG others(44): Show |
intron_variant | MODIFIER | HG01243.hp2 NA20300.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0015 | a0001c0003t0003g0207 a0001c0003t0015g0276 |
2 | 290 | 0.0069 | 51 | c.64- others(64): Show |
TSPAN18 | ENSG00000157570.12 | transcript | ENST00000520358.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TSPAN18_chr11_44721962_44937423 | 44908800 | A | AAGGAAGG others(44): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0140 | 1 | 290 | 0.0035 | 51 | c.64- others(64): Show |
TSPAN18 | ENSG00000157570.12 | transcript | ENST00000520358.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TSPEAR_chr21_44492893_44716572 | 44576320 | A | ACTCATGG others(44): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG01261.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0052 others(4): Show |
7 | 294 | 0.0238 | 51 | c.83- others(66): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 1/11 | chr21 | TogoVar | |||||||
TTLL5_chr14_75656246_75960079 | 75914033 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0039 | 1 | 198 | 0.0051 | 51 | c.382 others(72): Show |
TTLL5 | ENSG00000119685.20 | transcript | ENST00000298832.14 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TTLL5_chr14_75656246_75960079 | 75914033 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187 | 1 | 198 | 0.0051 | 51 | c.382 others(72): Show |
TTLL5 | ENSG00000119685.20 | transcript | ENST00000298832.14 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TUBA1A_chr12_49179795_49194080 | 49185310 | C | CTTGAAGC others(44): Show |
disruptive_inframe_insertion | MODERATE | HG02897.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0033 | 1 | 362 | 0.0028 | 51 | c.100 others(60): Show |
p.Phe others(64): Show |
TUBA1A | ENSG00000167552.15 | transcript | ENST00000301071.12 | protein_coding | 4/4 | 1156/1672 | 1055/1356 | 352/451 | chr12 | TogoVar | |||
TUBB2B_chr6_3219277_3232653 | 3222196 | T | TACCACCA others(44): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 51 | c.*25 others(62): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2080 | chr6 | TogoVar | |||||||
TUBB8B_chr18_42221_54615 | 49103 | C | CGGTGGGA others(44): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02451.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009 a0001c0002t0001g0035 |
6 | 395 | 0.0152 | 51 | c.166 others(64): Show |
TUBB8B | ENSG00000173213.11 | transcript | ENST00000308911.9 | protein_coding | 2/3 | chr18 | TogoVar | |||||||
TUBB8B_chr18_42221_54615 | 49110 | A | AGAAGGAC others(44): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19043.hp1 |
a0002a0015 | a0002c0003a0015c0022 | a0002c0003t0002a0015c0022t0002 | a0002c0003t0002g0061 a0015c0022t0002g0062 |
2 | 395 | 0.0051 | 51 | c.166 others(64): Show |
TUBB8B | ENSG00000173213.11 | transcript | ENST00000308911.9 | protein_coding | 2/3 | chr18 | TogoVar | |||||||
TUBB8B_chr18_42221_54615 | 49110 | A | AGAAGGAC others(44): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0014 | a0014c0037 | a0014c0037t0001 | a0014c0037t0001g0058 | 1 | 395 | 0.0025 | 51 | c.166 others(64): Show |
TUBB8B | ENSG00000173213.11 | transcript | ENST00000308911.9 | protein_coding | 2/3 | chr18 | TogoVar | |||||||
TUBB8B_chr18_42221_54615 | 49110 | A | AGAAGGAC others(44): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01358.hp1 HG02004.hp2 others(3): Show |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0001a0009c0013t0001 | a0001c0001t0001g0013 a0009c0013t0001g0030 |
6 | 395 | 0.0152 | 51 | c.166 others(64): Show |
TUBB8B | ENSG00000173213.11 | transcript | ENST00000308911.9 | protein_coding | 2/3 | chr18 | TogoVar | |||||||
TUBB8B_chr18_42221_54615 | 49110 | A | AGAAGGAC others(44): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 395 | 0.0025 | 51 | c.166 others(64): Show |
TUBB8B | ENSG00000173213.11 | transcript | ENST00000308911.9 | protein_coding | 2/3 | chr18 | TogoVar | |||||||
TUBGCP4_chr15_43366101_43414771 | 43386377 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0267 | 1 | 336 | 0.0030 | 51 | c.101 others(66): Show |
TUBGCP4 | ENSG00000137822.13 | transcript | ENST00000564079.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TUBGCP6_chr22_50212694_50250023 | 50234908 | A | AGCAGCAT others(44): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0357 | 1 | 436 | 0.0023 | 51 | c.906 others(68): Show |
TUBGCP6 | ENSG00000128159.12 | transcript | ENST00000248846.10 | protein_coding | 2/24 | chr22 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870743 | A | ACCACACA others(44): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01192.hp1 HG02015.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0047 others(10): Show |
13 | 338 | 0.0385 | 51 | c.*35 others(70): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0106 | 1 | 302 | 0.0033 | 51 | c.243 others(68): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD2_chr22_19870522_19946818 | 19919729 | G | GGCTGAGC others(44): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00733.hp2 others(42): Show |
a0003a0004a0005others(4): Show | a0003c0011a0003c0037a0004c0007others(9): Show | a0003c0011t0002a0003c0037t0001a0004c0007t0002others(10): Show | a0003c0011t0002g0003 a0003c0011t0002g0204 a0003c0011t0002g0344 others(39): Show |
45 | 372 | 0.1210 | 51 | c.173 others(66): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 2/17 | chr22 | TogoVar | |||||||
TXNRD2_chr22_19870522_19946818 | 19919729 | G | GGCTGAGC others(44): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01884.hp1 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0018others(8): Show | a0001c0001t0001a0002c0002t0001a0003c0018t0002others(10): Show | a0001c0001t0001g0278 a0001c0001t0001g0286 a0002c0002t0001g0281 others(19): Show |
24 | 372 | 0.0645 | 51 | c.173 others(66): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 2/17 | chr22 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55665421 | G | GACGGCAG others(44): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009 | a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0082 others(3): Show |
6 | 394 | 0.0152 | 51 | c.742 others(68): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99330458 | C | CAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106 | 1 | 380 | 0.0026 | 51 | c.562 others(68): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 34035514 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0219 | 1 | 356 | 0.0028 | 51 | c.-42 others(70): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34035514 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0201 | 1 | 356 | 0.0028 | 51 | c.-42 others(70): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34035514 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG02572.hp1 NA18986.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0005 | a0001c0002t0001g0146 a0001c0003t0005g0313 |
2 | 356 | 0.0056 | 51 | c.-42 others(70): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34035514 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 NA18747.hp1 |
a0001a0020 | a0001c0003a0020c0019 | a0001c0003t0001a0020c0019t0001 | a0001c0003t0001g0332 a0001c0003t0001g0347 a0020c0019t0001g0309 |
3 | 356 | 0.0084 | 51 | c.-42 others(70): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar |