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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMCO3_chr13_113486021_113555229 | 113525984 | CTGTGCCG others(44): Show |
C | intron_variant | MODIFIER | NA19085.hp1 | a0013 | a0013c0021 | a0013c0021t0002 | a0013c0021t0002g0056 | 1 | 366 | 0.0027 | -51 | c.134 others(70): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TMDD1_chr12_51808921_51819925 | 51815324 | CTTGCTCT others(44): Show |
C | upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 392 | 0.0026 | -51 | c.-48 others(60): Show |
TMDD1 | ENSG00000284730.2 | transcript | ENST00000642069.2 | protein_coding | 400 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129088835 | ATGTCCTC others(44): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0053 | 1 | 62 | 0.0161 | -51 | c.144 others(70): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | |||||||
TMEM235_chr17_78226631_78245987 | 78232691 | ATCCCAGC others(44): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 466 | 0.0021 | -51 | c.190 others(66): Show |
TMEM235 | ENSG00000204278.14 | transcript | ENST00000421688.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TMEM239_chr20_2811364_2823062 | 2822645 | CTCTCCCT others(44): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0002 a0001c0001t0009g0002 |
2 | 395 | 0.0051 | -51 | c.*56 others(62): Show |
TMEM239 | ENSG00000198326.10 | transcript | ENST00000380585.2 | protein_coding | 4584 | chr20 | TogoVar | |||||||
TMEM265_chr16_30735642_30750196 | 30749040 | GTGGTGGT others(44): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 266 | 0.0075 | -51 | c.*50 others(62): Show |
TMEM265 | ENSG00000281991.2 | transcript | ENST00000615541.3 | protein_coding | 3845 | chr16 | TogoVar | |||||||
TMEM265_chr16_30735642_30750196 | 30749043 | GTGGTGGT others(44): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 191 | 0.0052 | -51 | c.*51 others(62): Show |
TMEM265 | ENSG00000281991.2 | transcript | ENST00000615541.3 | protein_coding | 3848 | chr16 | TogoVar | |||||||
TMEM265_chr16_30735642_30750196 | 30749073 | GTGGTGGT others(44): Show |
G | downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 177 | 0.0056 | -51 | c.*51 others(62): Show |
TMEM265 | ENSG00000281991.2 | transcript | ENST00000615541.3 | protein_coding | 3878 | chr16 | TogoVar | |||||||
TMEM63C_chr14_77176798_77264495 | 77236221 | GTGATGGG others(44): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 320 | 0.0031 | -51 | c.543 others(66): Show |
TMEM63C | ENSG00000165548.11 | transcript | ENST00000298351.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TMIGD2_chr19_4287227_4307389 | 4288019 | AGCCTCCT others(44): Show |
A | downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 434 | 0.0023 | -51 | c.*45 others(62): Show |
TMIGD2 | ENSG00000167664.9 | transcript | ENST00000595645.6 | protein_coding | 4207 | chr19 | TogoVar | |||||||
TNFRSF13C_chr22_41917032_41931806 | 41930340 | CTGCCTCA others(44): Show |
C | upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 312 | 0.0032 | -51 | c.-36 others(62): Show |
TNFRSF13C | ENSG00000159958.7 | transcript | ENST00000291232.5 | protein_coding | 3535 | chr22 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195880637 | TGAAGAGG others(44): Show |
T | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0255 | 1 | 370 | 0.0027 | -51 | c.887 others(68): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195880718 | ACCCCCCC others(44): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00741.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0011others(11): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0012others(13): Show | a0001c0001t0001g0074 a0001c0001t0001g0324 a0001c0006t0001g0004 others(28): Show |
33 | 347 | 0.0951 | -51 | c.887 others(68): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195880809 | TCCCTGTA others(44): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0072 | a0002c0072t0001 | a0002c0072t0001g0095 | 1 | 368 | 0.0027 | -51 | c.887 others(68): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195880981 | CCAGCGAT others(44): Show |
C | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0090 | 1 | 370 | 0.0027 | -51 | c.887 others(68): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195881026 | CCACCCGC others(44): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00735.hp1 others(4): Show |
a0001a0003 | a0001c0002a0001c0017a0001c0020others(2): Show | a0001c0002t0001a0001c0017t0006a0001c0020t0002others(2): Show | a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0179 others(4): Show |
7 | 369 | 0.0190 | -51 | c.887 others(67): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195881465 | AGGATCTG others(44): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0174 | 1 | 364 | 0.0027 | -51 | c.887 others(66): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195881506 | GAGAGGAC others(44): Show |
G | intron_variant | MODIFIER | HG00558.hp1 | a0004 | a0004c0032 | a0004c0032t0001 | a0004c0032t0001g0285 | 1 | 327 | 0.0031 | -51 | c.887 others(66): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195881516 | GGCATCTA others(44): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0013 | a0013c0059 | a0013c0059t0001 | a0013c0059t0001g0029 | 1 | 347 | 0.0029 | -51 | c.887 others(66): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195881516 | GGCATCTA others(44): Show |
G | intron_variant | MODIFIER | NA18989.hp2 NA19079.hp2 NA19080.hp1 |
a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0309 a0001c0009t0002g0310 a0001c0009t0002g0311 |
3 | 349 | 0.0086 | -51 | c.887 others(66): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1943239 | GTGAACGG others(44): Show |
G | downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 124 | 0.0081 | -51 | c.*47 others(62): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 4538 | chr11 | TogoVar | |||||||
TNS3_chr7_47270154_47587111 | 47388997 | AAGAAGGA others(44): Show |
A | intron_variant | MODIFIER | HG00642.hp2 | a0008 | a0008c0048 | a0008c0048t0007 | a0008c0048t0007g0099 | 1 | 171 | 0.0058 | -51 | c.102 others(70): Show |
TNS3 | ENSG00000136205.18 | transcript | ENST00000311160.14 | protein_coding | 16/30 | chr7 | TogoVar | |||||||
TNS3_chr7_47270154_47587111 | 47389002 | GGAAGAAG others(44): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01256.hp2 HG01515.hp1 others(19): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0008a0001c0001t0033a0001c0002t0002others(17): Show | a0001c0001t0008g0100 a0001c0001t0033g0037 a0001c0002t0002g0008 others(19): Show |
22 | 96 | 0.2292 | -51 | c.102 others(70): Show |
TNS3 | ENSG00000136205.18 | transcript | ENST00000311160.14 | protein_coding | 16/30 | chr7 | TogoVar | |||||||
TNS3_chr7_47270154_47587111 | 47389035 | AGAAGAAG others(44): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0015 | a0001c0015t0025 | a0001c0015t0025g0176 | 1 | 194 | 0.0052 | -51 | c.102 others(70): Show |
TNS3 | ENSG00000136205.18 | transcript | ENST00000311160.14 | protein_coding | 16/30 | chr7 | TogoVar | |||||||
TOPBP1_chr3_133595238_133666941 | 133596423 | CAGACGCC others(44): Show |
C | downstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 338 | 0.0030 | -51 | c.*47 others(62): Show |
TOPBP1 | ENSG00000163781.14 | transcript | ENST00000260810.10 | protein_coding | 3814 | chr3 | TogoVar | |||||||
TRAPPC9_chr8_139722725_140462744 | 140110870 | TAGCAGCT others(44): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG02451.hp1 HG02486.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0029others(6): Show | a0001c0001t0001g0070 a0001c0001t0008g0083 a0001c0001t0029g0077 others(8): Show |
11 | 96 | 0.1146 | -51 | c.255 others(72): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 17/22 | chr8 | TogoVar | |||||||
TRIM2_chr4_153199443_153344317 | 153244134 | TCTTCTTC others(44): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG01891.hp1 HG02280.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0033 a0001c0001t0002g0002 a0001c0001t0002g0018 others(20): Show |
23 | 266 | 0.0865 | -51 | c.31- others(68): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TRIM44_chr11_35657775_35823007 | 35822348 | TAGTGGCT others(44): Show |
T | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0229 | 1 | 390 | 0.0026 | -51 | c.*15 others(64): Show |
TRIM44 | ENSG00000166326.7 | transcript | ENST00000299413.7 | protein_coding | 4342 | chr11 | TogoVar | |||||||
TRIO_chr5_14138342_14515204 | 14347290 | CGGACCTG others(44): Show |
C | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0128 | 1 | 118 | 0.0085 | -51 | c.204 others(72): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14403776 | TTGTGGTG others(44): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0013 | a0013c0041 | a0013c0041t0006 | a0013c0041t0006g0174 | 1 | 196 | 0.0051 | -51 | c.471 others(70): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 31/56 | chr5 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70567650 | TAAACCAC others(44): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0086 | 1 | 214 | 0.0047 | -51 | c.322 others(72): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 22/25 | chr9 | TogoVar | |||||||
TRPM4_chr19_49152792_49216836 | 49166498 | CCCTCTCT others(44): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 a0001c0001t0002g0068 |
2 | 309 | 0.0065 | -51 | c.267 others(66): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRPV4_chr12_109778089_109838398 | 109811109 | TTCATGAC others(44): Show |
T | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 342 | 0.0029 | -51 | c.387 others(68): Show |
TRPV4 | ENSG00000111199.12 | transcript | ENST00000261740.7 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142326586 | AGATGAGG others(44): Show |
A | intron_variant | MODIFIER | HG01975.hp1 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0142 a0002c0002t0001g0143 |
2 | 236 | 0.0085 | -51 | c.893 others(68): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 6/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142350142 | GGGCAGGG others(44): Show |
G | intron_variant | MODIFIER | HG01517.hp2 HG01952.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0002g0009 |
3 | 236 | 0.0127 | -51 | c.89- others(66): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
TSPAN33_chr7_129139707_129174699 | 129173771 | ATTATGGA others(44): Show |
A | downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026 | 1 | 430 | 0.0023 | -51 | c.*58 others(62): Show |
TSPAN33 | ENSG00000158457.6 | transcript | ENST00000486685.3 | protein_coding | 4073 | chr7 | TogoVar | |||||||
TSPEAR_chr21_44492893_44716572 | 44576294 | TGTCCCAG others(44): Show |
T | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 278 | 0.0036 | -51 | c.83- others(66): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 1/11 | chr21 | TogoVar | |||||||
TSPEAR_chr21_44492893_44716572 | 44576320 | ACTCATGG others(44): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01975.hp1 HG01975.hp2 others(6): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0066 a0001c0001t0001g0078 others(6): Show |
9 | 272 | 0.0331 | -51 | c.83- others(66): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 1/11 | chr21 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42815907 | TTTAAAAA others(44): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0008 | a0001c0008t0027 | a0001c0008t0027g0007 | 1 | 237 | 0.0042 | -51 | c.603 others(68): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 7/14 | chr15 | TogoVar | |||||||
TTC31_chr2_74478081_74499559 | 74492295 | CTTTATCA others(44): Show |
C | frameshift_variant others(3): Show |
HIGH | HG01496.hp2 | a0009 | a0009c0009 | a0009c0009t0002 | a0009c0009t0002g0037 | 1 | 330 | 0.0030 | -51 | c.102 others(62): Show |
p.Leu others(5): Show |
TTC31 | ENSG00000115282.21 | transcript | ENST00000233623.11 | protein_coding | 11/13 | 1020/1560 | 340/519 | chr2 | TogoVar | ||||
TTLL11_chr9_121810674_122098308 | 121971405 | GCCCCCCG others(44): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG01496.hp2 HG02486.hp2 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0005others(1): Show | a0001c0001t0007a0002c0003t0002a0004c0005t0030others(1): Show | a0001c0001t0007g0054 a0002c0003t0002g0006 a0004c0005t0030g0045 others(1): Show |
4 | 172 | 0.0233 | -51 | c.148 others(70): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50060759 | TGTGGCAC others(44): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG01255.hp1 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0049 a0001c0001t0001g0051 a0002c0002t0001g0132 others(7): Show |
10 | 222 | 0.0450 | -51 | c.-26 others(62): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 2462 | chr22 | TogoVar | |||||||
TUBB2A_chr6_3148666_3162544 | 3156322 | GAGGGGCT others(44): Show |
G | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 412 | 0.0024 | -51 | c.58- others(64): Show |
TUBB2A | ENSG00000137267.7 | transcript | ENST00000333628.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
TUBB6_chr18_12303241_12331616 | 12331465 | ATCTGTTA others(44): Show |
A | downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 400 | 0.0025 | -51 | c.*53 others(62): Show |
TUBB6 | ENSG00000176014.13 | transcript | ENST00000317702.10 | protein_coding | 4850 | chr18 | TogoVar | |||||||
TULP4_chr6_158307465_158516828 | 158491421 | CTTTCTTT others(44): Show |
C | intron_variant | MODIFIER | HG02132.hp1 NA18949.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0010 | a0001c0002t0001g0018 a0001c0002t0010g0154 |
2 | 265 | 0.0075 | -51 | c.163 others(70): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238868873 | CTCAAGAT others(44): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 336 | 0.0030 | -51 | c.*35 others(70): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667405 | GTGATGGT others(44): Show |
G | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0177 | 1 | 479 | 0.0021 | -51 | c.455 others(68): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667430 | AGATGGTG others(44): Show |
A | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0308 | 1 | 322 | 0.0031 | -51 | c.455 others(68): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667448 | TGATGGTG others(44): Show |
T | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 443 | 0.0023 | -51 | c.455 others(68): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55665268 | CACGGCAG others(44): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02129.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0002t0001g0203 others(4): Show |
7 | 392 | 0.0179 | -51 | c.742 others(68): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |