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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STIM1_chr11_3850664_4098208 | 3895635 | TTTCTTTC others(41): Show |
T | intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 297 | 0.0034 | -48 | c.139 others(67): Show |
STIM1 | ENSG00000167323.13 | transcript | ENST00000526596.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
STK32B_chr4_5046480_5505989 | 5150677 | CCACTTGG others(41): Show |
C | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 168 | 0.0060 | -48 | c.108 others(67): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
STK32C_chr10_132202492_132312950 | 132250313 | AGAGAGGG others(41): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02258.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0010others(2): Show | a0001c0001t0001a0001c0005t0003a0001c0010t0001others(2): Show | a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0005t0003g0001 others(5): Show |
9 | 219 | 0.0411 | -48 | c.263 others(65): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
STKLD1_chr9_133371366_133411096 | 133392743 | ATGGATAG others(41): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG03471.hp1 |
a0002 | a0002c0012a0002c0015 | a0002c0012t0003a0002c0015t0003 | a0002c0012t0003g0231 a0002c0012t0003g0233 a0002c0015t0003g0232 |
3 | 354 | 0.0085 | -48 | c.584 others(65): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48555828 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG00544.hp1 NA19089.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0007 | a0001c0001t0001g0034 a0001c0003t0007g0158 |
2 | 374 | 0.0053 | -48 | c.-47 others(67): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81308815 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG02818.hp2 |
a0001a0010 | a0001c0002a0010c0014 | a0001c0002t0059a0010c0014t0061 | a0001c0002t0059g0019 a0010c0014t0061g0195 |
2 | 165 | 0.0121 | -48 | c.742 others(67): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81308819 | TATATATG others(41): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03654.hp1 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0041 | a0001c0002t0005g0008 a0001c0002t0041g0010 |
2 | 170 | 0.0118 | -48 | c.742 others(67): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STPG2_chr4_97553872_98148476 | 97792631 | CTTCCATC others(41): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02129.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 a0001c0002t0001g0167 |
2 | 264 | 0.0076 | -48 | c.120 others(69): Show |
STPG2 | ENSG00000163116.10 | transcript | ENST00000295268.4 | protein_coding | 9/10 | chr4 | TogoVar | |||||||
STXBP5L_chr3_120903205_121429761 | 121313321 | GGGGCGGC others(41): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01123.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0054 a0001c0001t0001g0281 a0001c0001t0001g0282 others(12): Show |
15 | 288 | 0.0521 | -48 | c.211 others(67): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SUGT1_chr13_52647836_52705909 | 52700328 | ACCTGCAT others(41): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0002 | 1 | 308 | 0.0032 | -48 | c.*12 others(61): Show |
SUGT1 | ENSG00000165416.15 | transcript | ENST00000310528.9 | protein_coding | 13/13 | 12494 | chr13 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47745392 | AAAAAAAA others(41): Show |
A | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 326 | 0.0031 | -48 | c.176 others(65): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULT1B1_chr4_69716167_69765620 | 69762345 | GCCCCATC others(41): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02970.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0014a0002c0002t0027a0002c0002t0028others(1): Show | a0002c0002t0014g0019 a0002c0002t0027g0111 a0002c0002t0028g0110 others(1): Show |
7 | 406 | 0.0172 | -48 | c.-19 others(59): Show |
SULT1B1 | ENSG00000173597.9 | transcript | ENST00000310613.8 | protein_coding | 1726 | chr4 | TogoVar | |||||||
SULT1C4_chr2_108372954_108393989 | 108374262 | TCCCACTG others(41): Show |
T | upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0074 | 1 | 324 | 0.0031 | -48 | c.-40 others(59): Show |
SULT1C4 | ENSG00000198075.10 | transcript | ENST00000272452.7 | protein_coding | 3691 | chr2 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45288547 | GTATATAT others(41): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0017 a0001c0001t0001g0061 a0001c0001t0001g0062 others(29): Show |
32 | 195 | 0.1641 | -48 | c.101 others(67): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45288551 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01243.hp1 HG01993.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0016 | a0001c0002t0002g0117 a0001c0002t0002g0130 a0001c0002t0002g0150 others(1): Show |
4 | 166 | 0.0241 | -48 | c.101 others(67): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT5H_chr19_39440582_39481670 | 39480253 | CAAGAATG others(41): Show |
C | downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 376 | 0.0027 | -48 | c.*38 others(59): Show |
SUPT5H | ENSG00000196235.14 | transcript | ENST00000432763.7 | protein_coding | 3584 | chr19 | TogoVar | |||||||
SV2C_chr5_76078383_76338956 | 76171710 | GGGGGGGT others(41): Show |
G | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0009 | a0001c0009t0076 | a0001c0009t0076g0213 | 1 | 232 | 0.0043 | -48 | c.581 others(67): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138621814 | GTATCTAT others(41): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0011 | a0001c0001t0003g0348 a0002c0003t0011g0356 |
2 | 315 | 0.0063 | -48 | c.126 others(65): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138621970 | CTATGTAT others(41): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 350 | 0.0029 | -48 | c.126 others(65): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138622074 | CTATCTAT others(41): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0170 | 1 | 277 | 0.0036 | -48 | c.126 others(65): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
SYCE3_chr22_50546112_50567919 | 50547999 | GCCCCAAC others(41): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00673.hp2 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(40): Show |
87 | 412 | 0.2112 | -48 | c.*31 others(59): Show |
SYCE3 | ENSG00000217442.4 | transcript | ENST00000406915.4 | protein_coding | 3112 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32564870 | TAACAGCG others(41): Show |
T | intron_variant | MODIFIER | HG02074.hp2 HG02622.hp1 HG03669.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0035 a0001c0001t0002g0007 a0001c0001t0002g0174 others(10): Show |
13 | 184 | 0.0707 | -48 | c.775 others(67): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32949770 | TCATCATA others(41): Show |
T | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 184 | 0.0054 | -48 | c.370 others(67): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3/13 | chr22 | TogoVar | |||||||
SYNPO2L_chr10_73639886_73661029 | 73645395 | ACTCATTT others(41): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18968.hp2 | a0012 | a0012c0011 | a0012c0011t0023 | a0012c0011t0023g0050 | 1 | 380 | 0.0026 | -48 | c.*12 others(59): Show |
SYNPO2L | ENSG00000166317.12 | transcript | ENST00000394810.3 | protein_coding | 4/4 | 1275 | chr10 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63314006 | CATATATA others(41): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 158 | 0.0063 | -48 | c.84+ others(65): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYT17_chr16_19163240_19273332 | 19252450 | CATATATA others(41): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0051 | 1 | 254 | 0.0039 | -48 | c.122 others(69): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 79124558 | CATCATCA others(41): Show |
C | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 60 | 0.0167 | -48 | c.-18 others(67): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SYTL2_chr11_85689229_85816141 | 85816085 | AACCTGGG others(41): Show |
A | upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 362 | 0.0028 | -48 | c.-55 others(59): Show |
SYTL2 | ENSG00000137501.18 | transcript | ENST00000359152.10 | protein_coding | 4945 | chr11 | TogoVar | |||||||
SYTL3_chr6_158645054_158769871 | 158705439 | GAGGGCCG others(41): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00733.hp2 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(5): Show | a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0031 others(36): Show |
39 | 290 | 0.1345 | -48 | c.395 others(65): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TACC3_chr4_1716521_1750171 | 1739806 | CCGTCCCC others(41): Show |
C | intron_variant | MODIFIER | NA18970.hp1 NA19005.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0041 | 2 | 342 | 0.0058 | -48 | c.201 others(63): Show |
TACC3 | ENSG00000013810.21 | transcript | ENST00000313288.9 | protein_coding | 11/15 | chr4 | TogoVar | |||||||
TACR1_chr2_75041463_75204520 | 75154440 | ACACACAC others(41): Show |
A | intron_variant | MODIFIER | NA20905.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0152 a0001c0002t0001g0222 |
2 | 280 | 0.0071 | -48 | c.390 others(67): Show |
TACR1 | ENSG00000115353.11 | transcript | ENST00000305249.10 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
TACR2_chr10_69398903_69421918 | 69409865 | GTATATAT others(41): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(66): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0030a0003c0003t0003others(11): Show | a0001c0001t0001g0118 a0001c0001t0030g0074 a0003c0003t0003g0004 others(25): Show |
69 | 275 | 0.2509 | -48 | c.588 others(63): Show |
TACR2 | ENSG00000075073.16 | transcript | ENST00000373306.5 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
TARBP2_chr12_53496283_53511431 | 53498908 | CTGTGTGT others(41): Show |
C | upstream_gene_variant | MODIFIER | HG01258.hp2 HG02040.hp2 HG02135.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(1): Show |
24 | 25 | 0.9600 | -48 | c.-25 others(59): Show |
TARBP2 | ENSG00000139546.12 | transcript | ENST00000266987.7 | protein_coding | 2374 | chr12 | TogoVar | |||||||
TBC1D14_chr4_6904826_7038114 | 6933246 | CCCCTCCC others(41): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0213 | 1 | 261 | 0.0038 | -48 | c.722 others(65): Show |
TBC1D14 | ENSG00000132405.19 | transcript | ENST00000409757.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47061072 | GGTCCTGG others(41): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 112 | 0.0089 | -48 | c.132 others(69): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47061120 | CGTCCTGG others(41): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01433.hp2 HG01884.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0061 a0001c0001t0002g0018 a0001c0001t0002g0040 others(4): Show |
7 | 112 | 0.0625 | -48 | c.132 others(69): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47061183 | GAGCCACG others(41): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0005 | a0005c0006 | a0005c0006t0019 | a0005c0006t0019g0019 | 1 | 112 | 0.0089 | -48 | c.132 others(69): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D5_chr3_17152168_17747631 | 17401332 | CATATATG others(41): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01433.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(28): Show |
31 | 159 | 0.1950 | -48 | c.509 others(65): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 8/22 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17705201 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0043 | 1 | 160 | 0.0063 | -48 | c.-10 others(69): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
TBXAS1_chr7_139824264_140025293 | 139865650 | AGAGGAGG others(41): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG01099.hp2 others(39): Show |
a0001a0006a0007others(1): Show | a0001c0001a0006c0005a0007c0006others(1): Show | a0001c0001t0001a0006c0005t0001a0007c0006t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 others(39): Show |
42 | 260 | 0.1615 | -48 | c.90- others(63): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950658 | TCCCTCAC others(41): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0117 a0001c0001t0001g0132 others(3): Show |
6 | 226 | 0.0265 | -48 | c.451 others(65): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950763 | CTCCATCT others(41): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0081 others(5): Show |
8 | 265 | 0.0302 | -48 | c.451 others(65): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TCERG1L_chr10_131087391_131316721 | 131090909 | GAGCTCAG others(41): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG02055.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0004a0002c0004t0002 | a0001c0001t0002g0199 a0001c0001t0002g0264 a0001c0001t0002g0274 others(3): Show |
6 | 322 | 0.0186 | -48 | c.*22 others(59): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 1481 | chr10 | TogoVar | |||||||
TCERG1L_chr10_131087391_131316721 | 131220946 | GCACCTGC others(41): Show |
G | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 322 | 0.0031 | -48 | c.856 others(67): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | |||||||
TCF7L2_chr10_112945247_113172678 | 113117386 | TCTCTCTC others(41): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01346.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0125 a0001c0001t0002g0014 a0001c0001t0002g0107 others(9): Show |
12 | 198 | 0.0606 | -48 | c.553 others(67): Show |
TCF7L2 | ENSG00000148737.18 | transcript | ENST00000355995.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TCFL5_chr20_62836005_62866822 | 62839641 | ATGCCCTG others(41): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(94): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0002g0002 others(49): Show |
97 | 302 | 0.3212 | -48 | c.*22 others(59): Show |
TCFL5 | ENSG00000101190.13 | transcript | ENST00000335351.8 | protein_coding | 1363 | chr20 | TogoVar | |||||||
TCHH_chr1_152101317_152120444 | 152108587 | CCTGGCGG others(41): Show |
C | conservative_inframe_deletion | MODERATE | HG00544.hp1 NA18970.hp1 NA18993.hp1 others(2): Show |
a0014 | a0014c0014 | a0014c0014t0002 | a0014c0014t0002g0013 | 5 | 400 | 0.0125 | -48 | c.458 others(57): Show |
p.Gln others(15): Show |
TCHH | ENSG00000159450.13 | transcript | ENST00000614923.2 | protein_coding | 3/3 | 4714/6985 | 4582/5832 | 1528/1943 | chr1 | TogoVar | |||
TECTB_chr10_112278400_112310038 | 112300230 | TAAAGAAA others(41): Show |
T | intron_variant | MODIFIER | HG01515.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0001 | a0001c0001t0012g0105 a0001c0002t0001g0156 |
2 | 407 | 0.0049 | -48 | c.907 others(63): Show |
TECTB | ENSG00000119913.6 | transcript | ENST00000646139.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TELO2_chr16_1488360_1515454 | 1507749 | GTGTGTCG others(41): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG01070.hp1 others(41): Show |
a0004a0008a0010others(3): Show | a0004c0035a0008c0008a0008c0028others(9): Show | a0004c0035t0002a0008c0008t0002a0008c0008t0006others(12): Show | a0004c0035t0002g0023 a0008c0008t0002g0252 a0008c0008t0006g0016 others(39): Show |
44 | 444 | 0.0991 | -48 | c.240 others(64): Show |
TELO2 | ENSG00000100726.15 | transcript | ENST00000262319.11 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TENM2_chr5_166974029_168269157 | 168185924 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001 | a0001c0001t0007g0001 a0001c0002t0001g0044 |
2 | 54 | 0.0370 | -48 | c.257 others(67): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |