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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHC2_chr19_411589_466033 | 458469 | AGACGCAT others(78): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(14): Show |
a0001 | a0001c0005a0001c0006a0001c0014 | a0001c0005t0001a0001c0005t0005a0001c0005t0006others(4): Show | a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0013 others(14): Show |
17 | 212 | 0.0802 | -85 | c.468 others(102): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9791969 | GAGAATAG others(78): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0011 | a0002c0011t0003 | a0002c0011t0003g0123 | 1 | 256 | 0.0039 | -85 | c.165 others(102): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401826 | CCCCCGGC others(78): Show |
C | downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 242 | 0.0041 | -85 | c.*39 others(96): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3889 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402431 | CCCCCGGC others(78): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02056.hp2 HG02717.hp1 others(5): Show |
a0001a0004 | a0001c0003a0001c0006a0004c0008 | a0001c0003t0001a0001c0006t0001a0004c0008t0001 | a0001c0003t0001g0027 a0001c0003t0001g0030 a0001c0003t0001g0031 others(5): Show |
8 | 242 | 0.0331 | -85 | c.*33 others(96): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3284 | chr11 | TogoVar | |||||||
SKI_chr1_2223319_2315213 | 2281469 | GGACGCCC others(78): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0092 | 1 | 330 | 0.0030 | -85 | c.970 others(104): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281641 | GGATGCCC others(78): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0303 | 1 | 330 | 0.0030 | -85 | c.970 others(104): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281770 | GGACGCCC others(78): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0316 | 1 | 330 | 0.0030 | -85 | c.970 others(104): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2282244 | GGACGCCC others(78): Show |
G | intron_variant | MODIFIER | NA18961.hp1 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0283 | 1 | 330 | 0.0030 | -85 | c.970 others(104): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1045419 | AACGAGTG others(78): Show |
A | downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 118 | 0.0085 | -85 | c.*68 others(96): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 4964 | chr5 | TogoVar | |||||||
SLC1A7_chr1_53082183_53147638 | 53095579 | ATACACTC others(78): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03130.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0006 | a0001c0008t0006g0019 a0001c0008t0006g0233 a0001c0008t0006g0234 |
4 | 400 | 0.0100 | -85 | c.698 others(102): Show |
SLC1A7 | ENSG00000162383.13 | transcript | ENST00000371494.9 | protein_coding | 5/10 | chr1 | TogoVar | |||||||
SLC25A16_chr10_68472998_68532523 | 68502829 | GGGAGGGG others(78): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0301 | 1 | 312 | 0.0032 | -85 | c.421 others(100): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 4/8 | chr10 | TogoVar | |||||||
SLC26A3_chr7_107760469_107808223 | 107770153 | CTTTTTTT others(78): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01071.hp1 others(24): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0021others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0021t0001others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0037 others(24): Show |
27 | 436 | 0.0619 | -85 | c.206 others(104): Show |
SLC26A3 | ENSG00000091138.13 | transcript | ENST00000340010.10 | protein_coding | 18/20 | chr7 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81245508 | CTGGCCGA others(78): Show |
C | frameshift_variant others(1): Show |
HIGH | HG03688.hp2 | a0008 | a0008c0019 | a0008c0019t0009 | a0008c0019t0009g0013 | 1 | 214 | 0.0047 | -85 | c.332 others(93): Show |
p.Gln others(6): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 16/16 | 3793/4491 | 3323/3360 | 1108/1119 | chr17 | TogoVar | |||
SLC6A3_chr5_1387794_1450440 | 1393700 | TGTGGGGG others(78): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0004 | a0001c0004t0044 | a0001c0004t0044g0252 | 1 | 373 | 0.0027 | -85 | c.*95 others(95): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 15/15 | 950 | chr5 | TogoVar | ||||||
SMIM10L1_chr12_11166194_11181016 | 11168278 | AAGAAAGA others(78): Show |
A | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0000 | 3 | 397 | 0.0076 | -85 | c.-30 others(96): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2915 | chr12 | TogoVar | |||||||
SMIM2_chr13_44138150_44166257 | 44142132 | CCTCGGCT others(78): Show |
C | downstream_gene_variant | MODIFIER | HG01975.hp1 HG02015.hp2 HG02027.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081 a0001c0001t0001g0138 a0001c0001t0001g0140 others(7): Show |
17 | 380 | 0.0447 | -85 | c.*17 others(96): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 1017 | chr13 | TogoVar | |||||||
SMOC1_chr14_69874416_70037366 | 69924999 | GGAGGTAG others(78): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(187): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(182): Show |
190 | 270 | 0.7037 | -85 | c.100 others(104): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245872370 | TCCTGAGC others(78): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01433.hp2 HG02258.hp1 |
a0001a0002 | a0001c0006a0002c0005a0002c0016 | a0001c0006t0001a0002c0005t0002a0002c0016t0001 | a0001c0006t0001g0025 a0002c0005t0002g0118 a0002c0016t0001g0097 |
3 | 150 | 0.0200 | -85 | c.814 others(102): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
SNED1_chr2_240993618_241100568 | 241093416 | AGCCACAC others(78): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG01891.hp2 others(45): Show |
a0002a0003a0004others(5): Show | a0002c0003a0002c0007a0002c0009others(19): Show | a0002c0003t0004a0002c0003t0022a0002c0007t0004others(30): Show | a0002c0003t0004g0011 a0002c0003t0004g0015 a0002c0003t0004g0271 others(45): Show |
48 | 344 | 0.1395 | -85 | c.*19 others(96): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 32/32 | 5180 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1164476 | GGGTGGGA others(78): Show |
G | intron_variant | MODIFIER | HG02895.hp2 NA19043.hp2 NA20300.hp2 others(1): Show |
a0007 | a0007c0016a0007c0017a0007c0024 | a0007c0016t0001a0007c0017t0001a0007c0024t0002 | a0007c0016t0001g0033 a0007c0016t0001g0135 a0007c0017t0001g0105 others(1): Show |
4 | 190 | 0.0211 | -85 | c.412 others(101): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1282659 | CCCCCCGC others(78): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0080 | 1 | 190 | 0.0053 | -85 | c.128 others(106): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7724836 | TGGAGGTG others(78): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG03209.hp2 NA18522.hp1 |
a0001a0005 | a0001c0001a0001c0037a0005c0020 | a0001c0001t0013a0001c0037t0020a0005c0020t0020 | a0001c0001t0013g0125 a0001c0037t0020g0017 a0005c0020t0020g0037 |
3 | 168 | 0.0179 | -85 | c.261 others(102): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SOX18_chr20_64042582_64054639 | 64042832 | CGGGGGTC others(78): Show |
C | downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | -85 | c.*52 others(96): Show |
SOX18 | ENSG00000203883.7 | transcript | ENST00000340356.9 | protein_coding | 4749 | chr20 | TogoVar | |||||||
ST6GAL1_chr3_186925526_187083553 | 186984725 | CCCTTCCT others(78): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG00735.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0243 others(22): Show |
25 | 362 | 0.0691 | -85 | c.-18 others(106): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STAC_chr3_36375504_36553007 | 36398474 | AGGAGGGA others(78): Show |
A | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 316 | 0.0032 | -85 | c.111 others(104): Show |
STAC | ENSG00000144681.11 | transcript | ENST00000273183.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STK38L_chr12_27239286_27330959 | 27241037 | TTATATAT others(78): Show |
T | upstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 374 | 0.0027 | -85 | c.-33 others(96): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 3248 | chr12 | TogoVar | |||||||
STOX2_chr4_183900307_184028526 | 183932335 | CAGTATAT others(78): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01496.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0002a0001c0007t0002 | a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0080 others(6): Show |
9 | 318 | 0.0283 | -85 | c.166 others(104): Show |
STOX2 | ENSG00000173320.12 | transcript | ENST00000308497.9 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95423504 | AGGGATTT others(78): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00735.hp2 others(51): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0021a0001c0022others(27): Show | a0001c0001t0007a0001c0001t0041a0001c0001t0054others(44): Show | a0001c0001t0007g0277 a0001c0001t0007g0372 a0001c0001t0041g0002 others(50): Show |
54 | 384 | 0.1406 | -85 | c.272 others(104): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYTL3_chr6_158645054_158769871 | 158701186 | GTGTAGAT others(78): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0059 | 1 | 292 | 0.0034 | -85 | c.395 others(102): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | chr6 | TogoVar | |||||||
TAF4B_chr18_26221445_26396685 | 26303553 | TCCCTCCA others(78): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp1 HG03139.hp1 others(1): Show |
a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0267 a0004c0007t0002g0268 a0004c0007t0002g0270 others(1): Show |
4 | 274 | 0.0146 | -85 | c.183 others(106): Show |
TAF4B | ENSG00000141384.13 | transcript | ENST00000269142.10 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48735960 | ATCCCCCC others(78): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0248 a0001c0001t0010g0224 |
2 | 258 | 0.0078 | -85 | c.391 others(104): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1272922 | TCACCACA others(78): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 392 | 0.0026 | -85 | c.228 others(102): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TFAP2E_chr1_35568314_35600328 | 35576928 | CGCGGGAC others(78): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG01167.hp1 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 others(11): Show |
17 | 370 | 0.0460 | -85 | c.562 others(102): Show |
TFAP2E | ENSG00000116819.9 | transcript | ENST00000373235.4 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
THOP1_chr19_2780503_2820807 | 2817994 | TCAGAGCA others(78): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp2 NA18964.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0076 a0001c0001t0002g0185 |
3 | 370 | 0.0081 | -85 | c.*47 others(96): Show |
THOP1 | ENSG00000172009.15 | transcript | ENST00000307741.11 | protein_coding | 2188 | chr19 | TogoVar | |||||||
TMEM116_chr12_111926298_112018165 | 111984591 | CTAAAACA others(78): Show |
C | intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 342 | 0.0029 | -85 | c.210 others(102): Show |
TMEM116 | ENSG00000198270.13 | transcript | ENST00000552374.7 | protein_coding | 4/10 | chr12 | TogoVar | |||||||
TMPRSS4_chr11_118072078_118126890 | 118096882 | AGAAAGAA others(78): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0236 | 1 | 406 | 0.0025 | -85 | c.43+ others(100): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMPRSS4_chr11_118072078_118126890 | 118096942 | GAAAGAAA others(78): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01358.hp1 HG01358.hp2 others(15): Show |
a0001a0002a0007 | a0001c0001a0001c0009a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0208 a0001c0001t0001g0235 a0001c0001t0001g0246 others(15): Show |
18 | 406 | 0.0443 | -85 | c.44- others(100): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 2/12 | chr11 | TogoVar | |||||||
TRAPPC9_chr8_139722725_140462744 | 139936780 | TGGAGAGA others(78): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG00738.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0024others(19): Show | a0001c0001t0001g0073 a0001c0001t0008g0083 a0001c0001t0024g0061 others(22): Show |
25 | 98 | 0.2551 | -85 | c.281 others(106): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 19/22 | chr8 | TogoVar | |||||||
TRAPPC9_chr8_139722725_140462744 | 140157230 | CTTTTCCA others(78): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0024 | a0001c0024t0016 | a0001c0024t0016g0050 | 1 | 98 | 0.0102 | -85 | c.255 others(106): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 17/22 | chr8 | TogoVar | |||||||
TRERF1_chr6_42219931_42456926 | 42262434 | CAGAGAGA others(78): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01261.hp1 HG03017.hp1 others(1): Show |
a0001a0022 | a0001c0001a0022c0036 | a0001c0001t0001a0022c0036t0016 | a0001c0001t0001g0021 a0001c0001t0001g0135 a0001c0001t0001g0142 others(1): Show |
4 | 180 | 0.0222 | -85 | c.188 others(102): Show |
TRERF1 | ENSG00000124496.13 | transcript | ENST00000695948.1 | protein_coding | 8/17 | chr6 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44469421 | CTACTTCA others(78): Show |
C | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 240 | 0.0042 | -85 | c.291 others(106): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TTC38_chr22_46263008_46299008 | 46290466 | GTAGGAGG others(78): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02145.hp1 others(4): Show |
a0001a0010 | a0001c0002a0010c0023 | a0001c0002t0001a0010c0023t0001 | a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 others(4): Show |
7 | 232 | 0.0302 | -85 | c.131 others(102): Show |
TTC38 | ENSG00000075234.17 | transcript | ENST00000381031.8 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50029019 | CCCCACAC others(78): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0023 | a0023c0013 | a0023c0013t0001 | a0023c0013t0001g0060 | 1 | 224 | 0.0045 | -85 | c.225 others(104): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50029062 | CCCCACAC others(78): Show |
C | intron_variant | MODIFIER | HG02004.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0124 | 1 | 224 | 0.0045 | -85 | c.225 others(104): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291663 | CCGTGTCC others(78): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03654.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0010t0002 | a0001c0001t0002g0166 a0001c0010t0002g0041 |
2 | 284 | 0.0070 | -85 | c.121 others(102): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291751 | GTGTCCCC others(78): Show |
G | intron_variant | MODIFIER | HG02559.hp2 NA19009.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0200 a0002c0003t0002g0087 |
2 | 284 | 0.0070 | -85 | c.121 others(102): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP3_chr13_112480011_112593153 | 112488600 | CCACCCCC others(78): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 312 | 0.0032 | -85 | c.256 others(102): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 21/21 | chr13 | TogoVar | |||||||
TULP4_chr6_158307465_158516828 | 158491391 | TTCTTTCT others(78): Show |
T | intron_variant | MODIFIER | NA18971.hp1 NA19062.hp2 |
a0001a0019 | a0001c0004a0019c0050 | a0001c0004t0009a0019c0050t0011 | a0001c0004t0009g0153 a0019c0050t0011g0195 |
2 | 268 | 0.0075 | -85 | c.163 others(104): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UBE2G2_chr21_44763580_44806820 | 44764273 | CCCAGCAC others(78): Show |
C | downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 368 | 0.0027 | -85 | c.*70 others(96): Show |
UBE2G2 | ENSG00000184787.19 | transcript | ENST00000345496.7 | protein_coding | 4306 | chr21 | TogoVar | |||||||
URI1_chr19_29937239_30021612 | 30016766 | GTCTTATA others(78): Show |
G | downstream_gene_variant | MODIFIER | NA20129.hp2 NA20300.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0011 a0004c0005t0001g0012 |
2 | 328 | 0.0061 | -85 | c.*16 others(96): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 155 | chr19 | TogoVar |