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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SKI_chr1_2223319_2315213 | 2281752 | CGGAGATC others(79): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG02976.hp1 NA18961.hp1 others(2): Show |
a0001a0009 | a0001c0001a0009c0019 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0002g0081 a0001c0001t0006g0300 a0001c0001t0008g0202 others(2): Show |
5 | 330 | 0.0152 | -86 | c.970 others(105): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281911 | GGACAGGC others(79): Show |
G | intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0199 | 1 | 330 | 0.0030 | -86 | c.970 others(105): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281949 | TGAGAAGA others(79): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0224 a0001c0001t0013g0060 |
2 | 330 | 0.0061 | -86 | c.970 others(105): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2282122 | CGAGAAGA others(79): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG00733.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0166 a0001c0001t0001g0195 a0001c0001t0003g0280 others(7): Show |
10 | 330 | 0.0303 | -86 | c.970 others(105): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC16A9_chr10_59645764_59714850 | 59711085 | TAACAGTG others(79): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 352 | 0.0028 | -86 | c.-17 others(97): Show |
SLC16A9 | ENSG00000165449.12 | transcript | ENST00000395348.8 | protein_coding | 1236 | chr10 | TogoVar | |||||||
SLC22A18_chr11_2897278_2930246 | 2921534 | TGGGAGCA others(79): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02572.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0017 a0003c0004t0001g0094 a0003c0004t0001g0185 |
5 | 405 | 0.0124 | -86 | c.865 others(101): Show |
SLC22A18 | ENSG00000110628.16 | transcript | ENST00000649076.2 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC22A18_chr11_2897278_2930246 | 2921552 | AAGCCTGT others(79): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(48): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0003others(11): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(11): Show | a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0204 others(39): Show |
51 | 405 | 0.1259 | -86 | c.865 others(101): Show |
SLC22A18 | ENSG00000110628.16 | transcript | ENST00000649076.2 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC26A3_chr7_107760469_107808223 | 107770153 | CTTTTTTT others(79): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(113): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0029 others(112): Show |
116 | 436 | 0.2661 | -86 | c.206 others(105): Show |
SLC26A3 | ENSG00000091138.13 | transcript | ENST00000340010.10 | protein_coding | 18/20 | chr7 | TogoVar | |||||||
SLC27A6_chr5_128960488_129038635 | 128992098 | ACAATAGA others(79): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0015others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(342): Show |
357 | 358 | 0.9972 | -86 | c.969 others(103): Show |
SLC27A6 | ENSG00000113396.13 | transcript | ENST00000262462.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC6A19_chr5_1196595_1230111 | 1219173 | TGTGTGAA others(79): Show |
T | intron_variant | MODIFIER | NA18947.hp1 NA18951.hp2 NA18957.hp1 others(3): Show |
a0001a0003a0015 | a0001c0001a0003c0007a0015c0034 | a0001c0001t0001a0003c0007t0001a0015c0034t0001 | a0001c0001t0001g0008 a0001c0001t0001g0113 a0003c0007t0001g0146 others(1): Show |
6 | 458 | 0.0131 | -86 | c.137 others(102): Show |
SLC6A19 | ENSG00000174358.16 | transcript | ENST00000304460.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC7A2_chr8_17492088_17575566 | 17552512 | TAGCACCA others(79): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(432): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(115): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0028 others(429): Show |
435 | 450 | 0.9667 | -86 | c.105 others(103): Show |
SLC7A2 | ENSG00000003989.18 | transcript | ENST00000494857.6 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44973478 | AGTGCCCT others(79): Show |
A | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 334 | 0.0030 | -86 | c.569 others(101): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44973487 | ACCCCGCC others(79): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(157): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(101): Show |
160 | 334 | 0.4790 | -86 | c.569 others(101): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168589646 | TCTGGTGG others(79): Show |
T | intron_variant | MODIFIER | HG03225.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0007t0005 | a0001c0001t0006g0160 a0001c0007t0005g0050 |
2 | 180 | 0.0111 | -86 | c.638 others(103): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168613966 | ACAGGGGG others(79): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0124 a0001c0001t0003g0169 a0001c0002t0002g0052 others(3): Show |
6 | 180 | 0.0333 | -86 | c.907 others(103): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168615283 | TGGGGCCT others(79): Show |
T | intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0163 | 1 | 180 | 0.0056 | -86 | c.907 others(103): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168615560 | TCTACAGC others(79): Show |
T | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 180 | 0.0056 | -86 | c.907 others(103): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245872403 | CTTCTCAG others(79): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(46): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(46): Show |
49 | 150 | 0.3267 | -86 | c.814 others(103): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
SOBP_chr6_107485117_107666306 | 107654907 | AGGGAGGG others(79): Show |
A | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 296 | 0.0034 | -86 | c.*4- others(101): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOGA1_chr20_36772447_36868538 | 36858393 | AACACACA others(79): Show |
A | intron_variant | MODIFIER | HG03516.hp1 NA18982.hp1 NA20805.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0002 | a0001c0001t0001g0211 a0001c0001t0001g0223 a0004c0006t0002g0212 |
3 | 282 | 0.0106 | -86 | c.687 others(103): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35672221 | CTTGAACA others(79): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(1): Show |
a0007a0020 | a0007c0016a0020c0053 | a0007c0016t0001a0020c0053t0001 | a0007c0016t0001g0156 a0007c0016t0001g0158 a0007c0016t0001g0159 others(1): Show |
4 | 268 | 0.0149 | -86 | c.152 others(105): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK4_chr9_33235167_33253567 | 33252060 | TGCTCTCT others(79): Show |
T | downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | -86 | c.*35 others(97): Show |
SPINK4 | ENSG00000122711.9 | transcript | ENST00000379721.4 | protein_coding | 3494 | chr9 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45414729 | CAGTGTGT others(79): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG03225.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 others(1): Show |
4 | 358 | 0.0112 | -86 | c.233 others(105): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63948885 | TATATATA others(79): Show |
T | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0099 | 1 | 170 | 0.0059 | -86 | c.68- others(103): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63948915 | TATATATA others(79): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0134a0001c0002t0059a0001c0010t0019 | a0001c0001t0134g0119 a0001c0002t0059g0017 a0001c0010t0019g0168 |
3 | 170 | 0.0177 | -86 | c.68- others(103): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206372898 | CCTTTCTT others(79): Show |
C | intron_variant | MODIFIER | HG02451.hp1 NA18906.hp2 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0051 a0001c0004t0008g0052 |
2 | 182 | 0.0110 | -86 | c.424 others(105): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRM_chr1_11049589_11065018 | 11062790 | CCAACACC others(79): Show |
C | upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 346 | 0.0029 | -86 | c.-29 others(97): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 2773 | chr1 | TogoVar | |||||||
SRRM3_chr7_76196896_76292287 | 76227020 | ACAGCCAA others(79): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG02698.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0111 others(1): Show |
4 | 324 | 0.0124 | -86 | c.-39 others(103): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STAB1_chr3_52490338_52529495 | 52509375 | GATGGGTC others(79): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0083 | 1 | 368 | 0.0027 | -86 | c.234 others(103): Show |
STAB1 | ENSG00000010327.10 | transcript | ENST00000321725.10 | protein_coding | 22/68 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STIM1_chr11_3850664_4098208 | 3895661 | TCTTTCTT others(79): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0103 | 1 | 300 | 0.0033 | -86 | c.139 others(105): Show |
STIM1 | ENSG00000167323.13 | transcript | ENST00000526596.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
STIM1_chr11_3850664_4098208 | 3895669 | TCTTTCCT others(79): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0290 | 1 | 300 | 0.0033 | -86 | c.139 others(105): Show |
STIM1 | ENSG00000167323.13 | transcript | ENST00000526596.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
STK26_chrX_132018302_132080943 | 132044708 | GATCTATA others(79): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG03041.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0176 a0001c0001t0002g0042 a0001c0001t0002g0048 others(1): Show |
4 | 244 | 0.0164 | -86 | c.43- others(101): Show |
STK26 | ENSG00000134602.16 | transcript | ENST00000394334.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
STX2_chr12_130784600_130844250 | 130843346 | ATATTACA others(79): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(6): Show |
a0001a0002a0008 | a0001c0004a0002c0002a0008c0012 | a0001c0004t0004a0002c0002t0019a0002c0002t0030others(1): Show | a0001c0004t0004g0006 a0001c0004t0004g0025 a0001c0004t0004g0029 others(5): Show |
9 | 380 | 0.0237 | -86 | c.-43 others(97): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 4097 | chr12 | TogoVar | |||||||
STXBP3_chr1_108741674_108814523 | 108771928 | ATCTGTAT others(79): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 334 | 0.0030 | -86 | c.439 others(101): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SULT1B1_chr4_69716167_69765620 | 69762174 | TCCGGGAG others(79): Show |
T | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02970.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0027a0002c0002t0075a0002c0002t0085others(1): Show | a0002c0002t0027g0011 a0002c0002t0075g0130 a0002c0002t0085g0129 others(1): Show |
7 | 408 | 0.0172 | -86 | c.-18 others(97): Show |
SULT1B1 | ENSG00000173597.9 | transcript | ENST00000310613.8 | protein_coding | 1555 | chr4 | TogoVar | |||||||
SUN1_chr7_827476_879934 | 847517 | GGCCTTCC others(79): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp1 NA18939.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0012 | a0001c0001t0001g0201 a0001c0006t0012g0037 a0001c0006t0012g0038 |
3 | 418 | 0.0072 | -86 | c.659 others(103): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63313860 | CATATATA others(79): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 246 | 0.0041 | -86 | c.84+ others(103): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63595747 | ATATATAT others(79): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02717.hp2 HG02976.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0098 a0001c0001t0002g0189 others(4): Show |
7 | 246 | 0.0285 | -86 | c.409 others(105): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TAF4B_chr18_26221445_26396685 | 26270670 | AGGGGAAA others(79): Show |
A | intron_variant | MODIFIER | HG02886.hp1 NA19043.hp2 NA19240.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0029 a0001c0002t0012g0030 a0001c0002t0012g0031 others(1): Show |
4 | 274 | 0.0146 | -86 | c.597 others(103): Show |
TAF4B | ENSG00000141384.13 | transcript | ENST00000269142.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82820771 | CACATGTT others(79): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(84): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0009others(12): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(22): Show | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 others(84): Show |
87 | 318 | 0.2736 | -86 | c.131 others(105): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TEX29_chr13_111315642_111349248 | 111340116 | AGTGCTTG others(79): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02258.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(2): Show | a0001c0001t0001g0064 a0001c0001t0011g0131 a0001c0002t0001g0013 others(4): Show |
12 | 416 | 0.0289 | -86 | c.239 others(101): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TEX29_chr13_111315642_111349248 | 111340186 | ATGTTTAG others(79): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0110 |
2 | 416 | 0.0048 | -86 | c.239 others(101): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TEX29_chr13_111315642_111349248 | 111340229 | ATGTTTAG others(79): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 416 | 0.0024 | -86 | c.239 others(101): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TEX29_chr13_111315642_111349248 | 111341347 | ATGTTTAG others(79): Show |
A | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 416 | 0.0024 | -86 | c.240 others(102): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TFDP1_chr13_113579753_113646473 | 113584001 | GCACACAC others(79): Show |
G | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 348 | 0.0029 | -86 | c.-95 others(95): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 751 | chr13 | TogoVar | |||||||
TGS1_chr8_55768446_55831445 | 55829846 | CCAACTAC others(79): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 370 | 0.0027 | -86 | c.*51 others(97): Show |
TGS1 | ENSG00000137574.11 | transcript | ENST00000260129.6 | protein_coding | 3402 | chr8 | TogoVar | |||||||
THOP1_chr19_2780503_2820807 | 2811729 | AGCAAGGT others(79): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02257.hp2 others(10): Show |
a0002a0009a0013 | a0002c0002a0009c0019a0013c0018 | a0002c0002t0003a0002c0002t0004a0002c0002t0008others(3): Show | a0002c0002t0003g0107 a0002c0002t0004g0015 a0002c0002t0004g0074 others(6): Show |
13 | 370 | 0.0351 | -86 | c.190 others(102): Show |
THOP1 | ENSG00000172009.15 | transcript | ENST00000307741.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121736414 | CGCCTTGG others(79): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 | 1 | 314 | 0.0032 | -86 | c.70- others(101): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129088119 | GGGTGTCC others(79): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0056 | 1 | 94 | 0.0106 | -86 | c.144 others(105): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129088791 | CATGACCG others(79): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02647.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 a0001c0002t0001g0024 |
2 | 94 | 0.0213 | -86 | c.144 others(105): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar |