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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SBNO2_chr19_1102638_1179268 | 1137320 | GGGGGAGG others(74): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02572.hp1 others(2): Show |
a0001a0004 | a0001c0010a0001c0032a0001c0038others(1): Show | a0001c0010t0001a0001c0032t0001a0001c0038t0001others(2): Show | a0001c0010t0001g0193 a0001c0032t0001g0156 a0001c0038t0001g0153 others(2): Show |
5 | 203 | 0.0246 | -81 | c.280 others(98): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1137679 | CTGGGGTG others(74): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0104 | 1 | 203 | 0.0049 | -81 | c.279 others(98): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
SEC14L6_chr22_30517799_30551741 | 30546095 | CAAAAAGG others(74): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 396 | 0.0025 | -81 | c.54+ others(94): Show |
SEC14L6 | ENSG00000214491.9 | transcript | ENST00000402034.7 | protein_coding | 1/11 | chr22 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222556762 | TCACCCTC others(74): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00642.hp2 others(70): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(16): Show | a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0027 others(70): Show |
73 | 272 | 0.2684 | -81 | c.649 others(98): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SHOX_chrX_625791_656584 | 643234 | GGGGAGAG others(74): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0187 | a0001c0001t0008g0117 a0001c0001t0008g0130 a0001c0001t0187g0071 |
3 | 220 | 0.0136 | -81 | c.634 others(98): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SIRT5_chr6_13569601_13620158 | 13587088 | GCTCCACA others(74): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(3): Show | a0001c0001t0004g0046 a0001c0001t0005g0049 a0001c0001t0005g0051 others(4): Show |
9 | 394 | 0.0228 | -81 | c.116 others(98): Show |
SIRT5 | ENSG00000124523.17 | transcript | ENST00000606117.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1061061 | GCACCCGC others(74): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0022 | 1 | 118 | 0.0085 | -81 | c.274 others(98): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 20/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1070304 | ATGCAGCC others(74): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0007 | a0007c0021 | a0007c0021t0004 | a0007c0021t0004g0084 | 1 | 118 | 0.0085 | -81 | c.224 others(100): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1070609 | CCCCCAGT others(74): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0071 | 1 | 118 | 0.0085 | -81 | c.224 others(100): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1070650 | GCCCCAGT others(74): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0006 | a0001c0006t0021 | a0001c0006t0021g0104 | 1 | 118 | 0.0085 | -81 | c.224 others(100): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071181 | CATCACAC others(74): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0093 | 1 | 118 | 0.0085 | -81 | c.224 others(100): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071324 | ATGCAGCC others(74): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0006 | 1 | 118 | 0.0085 | -81 | c.224 others(100): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071476 | GGGCATCA others(74): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0071 | 1 | 118 | 0.0085 | -81 | c.224 others(100): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071530 | ATGCAGCC others(74): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0006 | 1 | 118 | 0.0085 | -81 | c.224 others(100): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1096733 | GGGGAAGG others(74): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG00741.hp2 others(16): Show |
a0001a0002a0008 | a0001c0001a0001c0013a0001c0018others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0013t0007others(11): Show | a0001c0001t0001g0094 a0001c0001t0007g0090 a0001c0013t0007g0101 others(16): Show |
19 | 118 | 0.1610 | -81 | c.125 others(98): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC22A31_chr16_89190761_89205537 | 89196258 | GCCTGGCC others(74): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(170): Show |
a0002a0005a0006others(3): Show | a0002c0002a0002c0004a0002c0007others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(10): Show | a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show |
173 | 428 | 0.4042 | -81 | c.103 others(93): Show |
p.Arg others(5): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 9/9 | 1117/1615 | 1035/1341 | 345/446 | chr16 | TogoVar | |||
SLC2A14_chr12_7807514_7877915 | 7874976 | TATATTTA others(74): Show |
T | upstream_gene_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0243 | 1 | 350 | 0.0029 | -81 | c.-23 others(92): Show |
SLC2A14 | ENSG00000173262.12 | transcript | ENST00000431042.7 | protein_coding | 2062 | chr12 | TogoVar | |||||||
SLC2A4RG_chr20_63734776_63749050 | 63747429 | GCAGGGGG others(74): Show |
G | downstream_gene_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 | 1 | 416 | 0.0024 | -81 | c.*44 others(92): Show |
SLC2A4RG | ENSG00000125520.14 | transcript | ENST00000266077.5 | protein_coding | 3380 | chr20 | TogoVar | |||||||
SLC34A1_chr5_177379434_177403848 | 177396434 | GCTCTCCC others(74): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0120 |
2 | 432 | 0.0046 | -81 | c.117 others(98): Show |
SLC34A1 | ENSG00000131183.11 | transcript | ENST00000324417.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC45A4_chr8_141202174_141313288 | 141203219 | GGAGACCG others(74): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp2 HG03139.hp1 |
a0001 | a0001c0013 | a0001c0013t0015 | a0001c0013t0015g0024 a0001c0013t0015g0025 |
2 | 188 | 0.0106 | -81 | c.*82 others(92): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3954 | chr8 | TogoVar | |||||||
SLC7A1_chr13_29504414_29600688 | 29558318 | TGAATGTG others(74): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG03669.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0036a0001c0006t0001 | a0001c0001t0036g0134 a0001c0006t0001g0249 |
2 | 330 | 0.0061 | -81 | c.-11 others(100): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SLC7A1_chr13_29504414_29600688 | 29559170 | AGGGGGAG others(74): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0115 a0001c0001t0006g0216 |
2 | 330 | 0.0061 | -81 | c.-11 others(100): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 500798 | CTGGTGTG others(74): Show |
C | intron_variant | MODIFIER | HG03453.hp1 NA18943.hp2 |
a0002 | a0002c0004a0002c0005 | a0002c0004t0006a0002c0005t0002 | a0002c0004t0006g0173 a0002c0005t0002g0153 |
2 | 218 | 0.0092 | -81 | c.212 others(98): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SMAD7_chr18_48914853_48955965 | 48929860 | ACTCCACT others(74): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 398 | 0.0025 | -81 | c.743 others(98): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11168282 | AAGAAAGA others(74): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02922.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0000 | 2 | 397 | 0.0050 | -81 | c.-30 others(92): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2911 | chr12 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246276104 | TTTTTCAC others(74): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(25): Show |
28 | 150 | 0.1867 | -81 | c.531 others(100): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SOCS3_chr17_78351778_78365077 | 78364206 | CAGCATTC others(74): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 468 | 0.0021 | -81 | c.-46 others(92): Show |
SOCS3 | ENSG00000184557.4 | transcript | ENST00000330871.3 | protein_coding | 4130 | chr17 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36858392 | AAACACAC others(74): Show |
A | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0278 | 1 | 282 | 0.0036 | -81 | c.687 others(98): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7706334 | GGATGAGG others(74): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03225.hp1 HG03579.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001a0001c0005t0019 | a0001c0002t0001g0123 a0001c0005t0001g0156 a0001c0005t0019g0104 |
3 | 168 | 0.0179 | -81 | c.186 others(100): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213833454 | TTATATAT others(74): Show |
T | intron_variant | MODIFIER | NA18968.hp2 NA18977.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0070 |
3 | 86 | 0.0349 | -81 | c.107 others(102): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49436507 | CGGCTGGC others(74): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0106 |
2 | 158 | 0.0127 | -81 | c.-24 others(102): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186984744 | CTCCCTCC others(74): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0181 others(65): Show |
69 | 362 | 0.1906 | -81 | c.-18 others(102): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STK31_chr7_23705219_23837513 | 23810422 | ATCTACCA others(74): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0005others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0036 others(310): Show |
314 | 404 | 0.7772 | -81 | c.276 others(100): Show |
STK31 | ENSG00000196335.13 | transcript | ENST00000355870.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STK32B_chr4_5046480_5505989 | 5316663 | TATATTAT others(74): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0029 | 1 | 170 | 0.0059 | -81 | c.261 others(100): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
STK32B_chr4_5046480_5505989 | 5368310 | AATAAGGG others(74): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 170 | 0.0059 | -81 | c.435 others(100): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48741644 | GGAGGTGA others(74): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0032 | a0001c0001t0002g0096 a0001c0001t0012g0192 a0001c0001t0032g0033 |
3 | 258 | 0.0116 | -81 | c.391 others(98): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TARS2_chr1_150482419_150512602 | 150506493 | CACACACA others(74): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0307 | 1 | 400 | 0.0025 | -81 | c.200 others(98): Show |
TARS2 | ENSG00000143374.18 | transcript | ENST00000369064.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TFG_chr3_100704494_100753964 | 100712804 | TAAATTAG others(74): Show |
T | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 350 | 0.0029 | -81 | c.-43 others(96): Show |
TFG | ENSG00000114354.15 | transcript | ENST00000240851.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
THSD7B_chr2_136760545_137682718 | 136890326 | TTCTTCTT others(74): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0006 | a0006c0032 | a0006c0032t0004 | a0006c0032t0004g0036 | 1 | 98 | 0.0102 | -81 | c.139 others(98): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113807670 | GGTCCTCC others(74): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01169.hp1 others(30): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0008a0001c0002t0011others(21): Show | a0001c0002t0007g0114 a0001c0002t0007g0123 a0001c0002t0007g0173 others(29): Show |
33 | 260 | 0.1269 | -81 | c.813 others(98): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TMPRSS4_chr11_118072078_118126890 | 118096946 | GAAAGGAA others(74): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG02300.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007 a0001c0001t0001g0176 a0001c0001t0001g0242 others(2): Show |
6 | 406 | 0.0148 | -81 | c.44- others(96): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 2/12 | chr11 | TogoVar | |||||||
TOMM40_chr19_44886254_44908689 | 44897008 | GGAGTGGT others(74): Show |
G | intron_variant | MODIFIER | HG03492.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 a0001c0001t0002g0180 |
2 | 412 | 0.0049 | -81 | c.643 others(98): Show |
TOMM40 | ENSG00000130204.13 | transcript | ENST00000426677.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TONSL_chr8_144423775_144449440 | 144444456 | CGGCCCCG others(74): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG02027.hp1 HG03942.hp1 others(7): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0002 | a0001c0002t0001g0018 a0001c0002t0001g0079 a0002c0001t0002g0001 others(1): Show |
10 | 406 | 0.0246 | -81 | c.-12 others(89): Show |
TONSL | ENSG00000160949.18 | transcript | ENST00000409379.8 | protein_coding | 17 | chr8 | TogoVar | |||||||
TOP1MT_chr8_143304324_143339880 | 143307979 | GGAGAGGG others(74): Show |
G | downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 430 | 0.0023 | -81 | c.*13 others(92): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 1344 | chr8 | TogoVar | |||||||
TPO_chr2_1408463_1548673 | 1529638 | CCCCGTAC others(74): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(108): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0002c0002others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0032 others(106): Show |
111 | 130 | 0.8539 | -81 | c.261 others(102): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1536110 | ATTATGTG others(74): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG03209.hp2 NA19058.hp1 |
a0003a0006a0018 | a0003c0003a0006c0020a0018c0019 | a0003c0003t0005a0006c0020t0004a0018c0019t0004 | a0003c0003t0005g0066 a0006c0020t0004g0018 a0018c0019t0004g0007 |
3 | 130 | 0.0231 | -81 | c.261 others(100): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | chr2 | TogoVar | |||||||
TRERF1_chr6_42219931_42456926 | 42262434 | CAGAGAGA others(74): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG02486.hp1 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0001a0001c0004t0008 | a0001c0001t0004g0162 a0001c0002t0001g0136 a0001c0004t0008g0007 |
3 | 180 | 0.0167 | -81 | c.188 others(98): Show |
TRERF1 | ENSG00000124496.13 | transcript | ENST00000695948.1 | protein_coding | 8/17 | chr6 | TogoVar | |||||||
TRIM2_chr4_153199443_153344317 | 153244286 | CTCCTCCT others(74): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0048 | 1 | 268 | 0.0037 | -81 | c.31- others(98): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TSHR_chr14_80950621_81151306 | 81131941 | TTCTAGAA others(74): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02647.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0005a0001c0001t0016a0001c0002t0005others(3): Show | a0001c0001t0005g0001 a0001c0001t0005g0080 a0001c0001t0005g0247 others(7): Show |
11 | 270 | 0.0407 | -81 | c.693 others(98): Show |
TSHR | ENSG00000165409.18 | transcript | ENST00000298171.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667418 | TGATGGTG others(74): Show |
T | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0279 | 1 | 482 | 0.0021 | -81 | c.455 others(98): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |