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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMIM10L1_chr12_11166194_11181016 | 11168283 | AGAAAGAA others(54): Show |
A | upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0000 | 1 | 397 | 0.0025 | -61 | c.-30 others(72): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2910 | chr12 | TogoVar | |||||||
SNED1_chr2_240993618_241100568 | 241034933 | ACACACAC others(54): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA18522.hp2 |
a0009 | a0009c0030 | a0009c0030t0027 | a0009c0030t0027g0127 a0009c0030t0027g0208 |
2 | 344 | 0.0058 | -61 | c.805 others(76): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241034947 | CTGGGTTG others(54): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0011 | a0011c0054 | a0011c0054t0030 | a0011c0054t0030g0319 | 1 | 344 | 0.0029 | -61 | c.805 others(76): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1009593 | ATGTCCCC others(54): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03579.hp1 NA18522.hp2 others(1): Show |
a0003a0004a0006 | a0003c0008a0004c0004a0006c0009others(1): Show | a0003c0008t0001a0004c0004t0001a0006c0009t0001others(1): Show | a0003c0008t0001g0106 a0004c0004t0001g0116 a0006c0009t0001g0050 others(1): Show |
4 | 190 | 0.0211 | -61 | c.72+ others(78): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7387599 | AAACGCAC others(54): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0070 | 1 | 168 | 0.0060 | -61 | c.481 others(78): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SPEM3_chr17_7423857_7437820 | 7436089 | AGTAACCC others(54): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 1 | 354 | 0.0028 | -61 | c.*33 others(72): Show |
SPEM3 | ENSG00000283439.4 | transcript | ENST00000636696.4 | protein_coding | 3270 | chr17 | TogoVar | |||||||
SPG7_chr16_89503403_89562766 | 89544950 | CGGCTGCA others(54): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 358 | 0.0028 | -61 | c.144 others(78): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 167205483 | ATATATAA others(54): Show |
A | intron_variant | MODIFIER | HG02165.hp1 NA18952.hp2 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0002g0124 others(1): Show |
4 | 144 | 0.0278 | -61 | c.189 others(80): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2332919 | AGGTGGGG others(54): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0022a0001c0010t0006 | a0001c0001t0022g0222 a0001c0010t0006g0140 |
2 | 414 | 0.0048 | -61 | c.67- others(76): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2333135 | GCTCTGCT others(54): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0154 | 1 | 414 | 0.0024 | -61 | c.67- others(76): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPRED3_chr19_38383697_38404587 | 38387915 | CCCCCGGA others(54): Show |
C | upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0100 | 1 | 360 | 0.0028 | -61 | c.-89 others(70): Show |
SPRED3 | ENSG00000188766.13 | transcript | ENST00000691638.1 | protein_coding | 781 | chr19 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45414926 | CACACACA others(54): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG03453.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0250 a0005c0007t0001g0135 |
2 | 358 | 0.0056 | -61 | c.233 others(80): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415364 | ATGTATAT others(54): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0135 | 1 | 358 | 0.0028 | -61 | c.233 others(80): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRD5A2_chr2_31517480_31585938 | 31580455 | GGCCCCGG others(54): Show |
G | intron_variant | MODIFIER | NA18985.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0128 |
2 | 386 | 0.0052 | -61 | c.281 others(76): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642039 | GGGGGGGC others(54): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0087 | 1 | 422 | 0.0024 | -61 | c.*66 others(72): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4575 | chr20 | TogoVar | |||||||
ST6GAL1_chr3_186925526_187083553 | 186984764 | CTCCTTCC others(54): Show |
C | intron_variant | MODIFIER | NA18960.hp1 NA18968.hp1 NA18988.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0006g0162 a0001c0001t0007g0111 a0001c0001t0010g0180 others(1): Show |
4 | 362 | 0.0111 | -61 | c.-18 others(82): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STARD13_chr13_33098137_33290755 | 33163673 | TATATATA others(54): Show |
T | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 302 | 0.0033 | -61 | c.323 others(78): Show |
STARD13 | ENSG00000133121.21 | transcript | ENST00000336934.10 | protein_coding | 3/13 | chr13 | TogoVar | |||||||
STIM1_chr11_3850664_4098208 | 3895682 | CCTTCTTT others(54): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 300 | 0.0033 | -61 | c.139 others(80): Show |
STIM1 | ENSG00000167323.13 | transcript | ENST00000526596.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
STK32B_chr4_5046480_5505989 | 5143770 | GTGGATCT others(54): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(28): Show |
31 | 170 | 0.1824 | -61 | c.108 others(78): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SULT4A1_chr22_43819509_43867513 | 43822742 | AGTGTGTG others(54): Show |
A | downstream_gene_variant | MODIFIER | NA19030.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0130 a0001c0001t0014g0131 |
2 | 386 | 0.0052 | -61 | c.*31 others(72): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 1766 | chr22 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9675309 | CAGAGAGG others(54): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA20300.hp1 |
a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0001 a0001c0003t0013g0002 a0001c0003t0013g0003 |
3 | 294 | 0.0102 | -61 | c.99+ others(78): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
SYT3_chr19_50616977_50644881 | 50619900 | TTTATTAT others(54): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 a0001c0001t0001g0197 |
2 | 388 | 0.0052 | -61 | c.*25 others(72): Show |
SYT3 | ENSG00000213023.11 | transcript | ENST00000600079.6 | protein_coding | 2076 | chr19 | TogoVar | |||||||
TAB3_chrX_30822442_30894254 | 30868506 | ATATATAT others(54): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00621.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0015others(4): Show | a0001c0001t0003g0008 a0001c0001t0003g0242 a0001c0001t0003g0249 others(12): Show |
16 | 302 | 0.0530 | -61 | c.-27 others(79): Show |
TAB3 | ENSG00000157625.16 | transcript | ENST00000288422.4 | protein_coding | 2/10 | chrX | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48607312 | CTGGCCCA others(54): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 258 | 0.0039 | -61 | c.113 others(80): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TARS3_chr15_101648596_101729473 | 101692256 | CCTCTCCT others(54): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00738.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0002a0003c0003others(1): Show | a0001c0005t0002a0002c0002t0001a0002c0002t0005others(4): Show | a0001c0005t0002g0109 a0002c0002t0001g0147 a0002c0002t0001g0200 others(24): Show |
27 | 278 | 0.0971 | -61 | c.132 others(80): Show |
TARS3 | ENSG00000185418.16 | transcript | ENST00000335968.8 | protein_coding | 10/18 | chr15 | TogoVar | |||||||
TARS3_chr15_101648596_101729473 | 101692511 | CGGCTCCA others(54): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0226 | 1 | 278 | 0.0036 | -61 | c.132 others(80): Show |
TARS3 | ENSG00000185418.16 | transcript | ENST00000335968.8 | protein_coding | 10/18 | chr15 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82808345 | GGGATGAG others(54): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp2 others(12): Show |
a0002 | a0002c0007a0002c0008 | a0002c0007t0020a0002c0008t0007a0002c0008t0019 | a0002c0007t0020g0138 a0002c0008t0007g0140 a0002c0008t0007g0148 others(12): Show |
15 | 318 | 0.0472 | -61 | c.114 others(78): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 11/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TCERG1L_chr10_131087391_131316721 | 131161565 | ATGACTTC others(54): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0316 | 1 | 324 | 0.0031 | -61 | c.103 others(80): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1282848 | GAGGGCCT others(54): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02965.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0146 |
3 | 392 | 0.0077 | -61 | c.157 others(78): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1293517 | TGCTGTGC others(54): Show |
T | frameshift_variant | HIGH | NA18967.hp2 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0110 | 1 | 392 | 0.0026 | -61 | c.130 others(70): Show |
p.Glu others(5): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/16 | 1447/4039 | 1308/3399 | 436/1132 | chr5 | TogoVar | |||
TEX19_chr17_82354247_82368775 | 82359458 | TTTCCCTC others(54): Show |
T | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 380 | 0.0026 | -61 | c.-27 others(78): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TFDP1_chr13_113579753_113646473 | 113625791 | GTCTCTCA others(54): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0009 a0001c0001t0001g0037 a0001c0001t0001g0303 others(1): Show |
5 | 348 | 0.0144 | -61 | c.186 others(78): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
THADA_chr2_43225851_43601038 | 43515326 | AATATATA others(54): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0017 | 1 | 206 | 0.0049 | -61 | c.337 others(80): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 22/37 | chr2 | TogoVar | |||||||
THBS3_chr1_155190588_155212897 | 155191337 | GCTGCGGG others(54): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01975.hp2 HG03579.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0038 a0002c0002t0001g0003 |
4 | 298 | 0.0134 | -61 | c.*44 others(72): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4250 | chr1 | TogoVar | |||||||
TIAM1_chr21_31113418_31349261 | 31210686 | AAAGAAAG others(54): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0010 | a0003c0010t0006 | a0003c0010t0006g0079 | 1 | 212 | 0.0047 | -61 | c.221 others(78): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 10/27 | chr21 | TogoVar | |||||||
TIAM2_chr6_154990315_155262723 | 155028445 | CATATACT others(54): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0020 | a0020c0066 | a0020c0066t0002 | a0020c0066t0002g0075 | 1 | 230 | 0.0044 | -61 | c.-20 others(82): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TKT_chr3_53219712_53261022 | 53235602 | GTGGGAAA others(54): Show |
G | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0295 | 1 | 378 | 0.0027 | -61 | c.438 others(76): Show |
TKT | ENSG00000163931.17 | transcript | ENST00000462138.6 | protein_coding | 4/13 | chr3 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94654663 | TAATTTAA others(54): Show |
T | upstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0204 | 1 | 378 | 0.0027 | -61 | c.-42 others(72): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 4107 | chr12 | TogoVar | |||||||
TMED5_chr1_93144742_93185413 | 93179545 | AATCGGGC others(54): Show |
A | intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0125 | 1 | 344 | 0.0029 | -61 | c.189 others(76): Show |
TMED5 | ENSG00000117500.13 | transcript | ENST00000370282.8 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
TMEM106C_chr12_47958596_47973878 | 47971793 | TTATATTG others(54): Show |
T | downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0028 | 1 | 422 | 0.0024 | -61 | c.*35 others(72): Show |
TMEM106C | ENSG00000134291.12 | transcript | ENST00000429772.7 | protein_coding | 2916 | chr12 | TogoVar | |||||||
TMEM156_chr4_38961744_39037409 | 38992665 | CATATATA others(54): Show |
C | intron_variant | MODIFIER | HG03130.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0190 a0001c0001t0009g0189 |
2 | 386 | 0.0052 | -61 | c.619 others(78): Show |
TMEM156 | ENSG00000121895.8 | transcript | ENST00000381938.4 | protein_coding | 3/6 | chr4 | TogoVar | |||||||
TMEM184B_chr22_38214291_38278010 | 38245401 | GAGAAGCG others(54): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 354 | 0.0028 | -61 | c.358 others(76): Show |
TMEM184B | ENSG00000198792.13 | transcript | ENST00000361906.8 | protein_coding | 3/8 | chr22 | TogoVar | |||||||
TMEM184B_chr22_38214291_38278010 | 38245540 | GGGAGGGC others(54): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG03209.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013 | a0001c0001t0008g0326 a0001c0001t0013g0217 a0001c0001t0013g0218 |
3 | 354 | 0.0085 | -61 | c.358 others(76): Show |
TMEM184B | ENSG00000198792.13 | transcript | ENST00000361906.8 | protein_coding | 3/8 | chr22 | TogoVar | |||||||
TMEM184B_chr22_38214291_38278010 | 38245608 | CCCTTGCT others(54): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG00741.hp1 others(32): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0099 others(29): Show |
35 | 354 | 0.0989 | -61 | c.358 others(76): Show |
TMEM184B | ENSG00000198792.13 | transcript | ENST00000361906.8 | protein_coding | 3/8 | chr22 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29644062 | ATATAATT others(54): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0049a0001c0005t0052 | a0001c0002t0049g0099 a0001c0005t0052g0041 |
2 | 276 | 0.0073 | -61 | c.939 others(80): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TNC_chr9_115014575_115123157 | 115120587 | AGGCTCCT others(54): Show |
A | upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0009 | a0001c0009t0015 | a0001c0009t0015g0350 | 1 | 366 | 0.0027 | -61 | c.-28 others(72): Show |
TNC | ENSG00000041982.17 | transcript | ENST00000350763.9 | protein_coding | 2431 | chr9 | TogoVar | |||||||
TNFAIP8L1_chr19_4634516_4660568 | 4655266 | CGAAAAAG others(54): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0039 | 1 | 416 | 0.0024 | -61 | c.*28 others(72): Show |
TNFAIP8L1 | ENSG00000185361.9 | transcript | ENST00000327473.9 | protein_coding | 2/2 | 2838 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TNNT3_chr11_1914703_1943702 | 1940305 | AACACACA others(54): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp2 HG02027.hp1 HG02071.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 others(4): Show |
8 | 125 | 0.0640 | -61 | c.*18 others(72): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 1604 | chr11 | TogoVar | |||||||
TPD52L1_chr6_125148773_125269407 | 125260921 | GAAGAAAG others(54): Show |
G | intron_variant | MODIFIER | NA18966.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 a0001c0001t0001g0283 |
2 | 320 | 0.0063 | -61 | c.487 others(78): Show |
TPD52L1 | ENSG00000111907.21 | transcript | ENST00000534000.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1415090 | GGGGCCCC others(54): Show |
G | intron_variant | MODIFIER | HG01167.hp2 NA19240.hp2 |
a0004a0008 | a0004c0005a0008c0016 | a0004c0005t0001a0008c0016t0003 | a0004c0005t0001g0019 a0008c0016t0003g0020 |
2 | 130 | 0.0154 | -61 | c.94+ others(74): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |