regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC6A19_chr5_1196595_1230111 | 1197674 | GTTGGGTA others(57): Show |
G | upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0005 | 1 | 458 | 0.0022 | -64 | c.-39 others(75): Show |
SLC6A19 | ENSG00000174358.16 | transcript | ENST00000304460.11 | protein_coding | 3920 | chr5 | TogoVar | ||||||
SLC6A19_chr5_1196595_1230111 | 1206357 | TCTGTCTC others(57): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(99): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0084others(85): Show | 102 | 458 | 0.2227 | -64 | c.203 others(81): Show |
SLC6A19 | ENSG00000174358.16 | transcript | ENST00000304460.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SLC9A8_chr20_49807828_49897242 | 49834367 | GTGTATAT others(57): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG03139.hp2 HG06807.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0011a0001c0001t0018a0004c0009t0020 | a0001c0001t0011g0195a0001c0001t0011g0196a0001c0001t0018g0192others(1): Show | 4 | 360 | 0.0111 | -64 | c.290 others(81): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SLIT2_chr4_20246905_20625561 | 20472368 | ATCTATAT others(57): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0034 | 1 | 230 | 0.0044 | -64 | c.467 others(81): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMG7_chr1_183467499_183559191 | 183477679 | CGTGTGTG others(57): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 360 | 0.0028 | -64 | c.29+ others(79): Show |
SMG7 | ENSG00000116698.22 | transcript | ENST00000688051.1 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SMIM10L1_chr12_11166194_11181016 | 11168288 | GAAAGAAA others(57): Show |
G | upstream_gene_variant | MODIFIER | HG03239.hp1 HG03942.hp1 NA20752.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0013 | a0001c0002t0003g0000a0001c0002t0013g0000 | 3 | 397 | 0.0076 | -64 | c.-30 others(75): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2905 | chr12 | TogoVar | ||||||
SNAPC4_chr9_136370571_136405170 | 136401381 | GGCATCCT others(57): Show |
G | upstream_gene_variant | MODIFIER | NA18939.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0210 | 1 | 380 | 0.0026 | -64 | c.-13 others(75): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 1212 | chr9 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1056484 | AGCGCAGC others(57): Show |
A | intron_variant | MODIFIER | NA18969.hp2 | a0022 | a0022c0021 | a0022c0021t0001 | a0022c0021t0001g0111 | 1 | 190 | 0.0053 | -64 | c.73- others(81): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNX16_chr8_81794583_81847185 | 81842519 | AGAGAGAA others(57): Show |
A | upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0032 | 1 | 306 | 0.0033 | -64 | c.-55 others(73): Show |
SNX16 | ENSG00000104497.15 | transcript | ENST00000345957.9 | protein_coding | 335 | chr8 | TogoVar | ||||||
SNX16_chr8_81794583_81847185 | 81842520 | GAGAGAAA others(57): Show |
G | upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 306 | 0.0033 | -64 | c.-55 others(73): Show |
SNX16 | ENSG00000104497.15 | transcript | ENST00000345957.9 | protein_coding | 336 | chr8 | TogoVar | ||||||
SOGA1_chr20_36772447_36868538 | 36858329 | CACACACA others(57): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01109.hp2 others(11): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0273a0001c0001t0002g0122a0001c0001t0005g0232others(11): Show | 14 | 282 | 0.0497 | -64 | c.687 others(81): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
SOGA1_chr20_36772447_36868538 | 36858399 | CACACACA others(57): Show |
C | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 282 | 0.0036 | -64 | c.687 others(81): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7724909 | ATTGGTGG others(57): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 |
a0003a0007 | a0003c0013a0007c0056 | a0003c0013t0021a0007c0056t0021 | a0003c0013t0021g0100a0007c0056t0021g0061 | 2 | 168 | 0.0119 | -64 | c.261 others(81): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPAG9_chr17_50957174_51125868 | 51076982 | TTATCTAG others(57): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176a0001c0001t0004g0178a0001c0001t0004g0181 | 3 | 292 | 0.0103 | -64 | c.424 others(81): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 51077001 | TCTAGCTA others(57): Show |
T | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 292 | 0.0034 | -64 | c.424 others(81): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 51077009 | GCTAGCTA others(57): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 292 | 0.0034 | -64 | c.424 others(81): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 51077053 | GCTAGCTA others(57): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0060others(1): Show | 4 | 292 | 0.0137 | -64 | c.424 others(81): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 167223046 | GAATATAT others(57): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG01346.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0038a0001c0001t0001g0046a0001c0001t0001g0053others(26): Show | 29 | 144 | 0.2014 | -64 | c.189 others(83): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14160748 | ATATTTAT others(57): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03139.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001 | a0001c0001t0006g0044a0001c0002t0001g0024a0001c0002t0001g0026 | 3 | 224 | 0.0134 | -64 | c.825 others(83): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SRBD1_chr2_45383680_45616267 | 45414955 | CACACACA others(57): Show |
C | intron_variant | MODIFIER | HG03139.hp2 NA18939.hp2 NA18998.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0231a0001c0001t0001g0348others(1): Show | 4 | 358 | 0.0112 | -64 | c.233 others(83): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | ||||||
STAP2_chr19_4319043_4343827 | 4328418 | CCAGCTCT others(57): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(151): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(88): Show | 154 | 388 | 0.3969 | -64 | c.590 others(79): Show |
STAP2 | ENSG00000178078.12 | transcript | ENST00000594605.6 | protein_coding | 6/12 | chr19 | TogoVar | ||||||
STIM1_chr11_3850664_4098208 | 3895704 | TTCTTTCT others(57): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 300 | 0.0033 | -64 | c.139 others(83): Show |
STIM1 | ENSG00000167323.13 | transcript | ENST00000526596.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
STK32B_chr4_5046480_5505989 | 5159622 | TATATATG others(57): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01928.hp2 HG01978.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0027a0001c0001t0001g0099a0001c0001t0002g0158others(6): Show | 9 | 170 | 0.0529 | -64 | c.109 others(81): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
STK32C_chr10_132202492_132312950 | 132282447 | ACCCACCT others(57): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00673.hp1 others(45): Show |
a0000a0001a0002others(1): Show | a0000c0019a0001c0001a0001c0002others(5): Show | a0000c0019t0014a0001c0001t0001a0001c0001t0002others(12): Show | a0000c0019t0014g0143a0001c0001t0001g0002a0001c0001t0001g0039others(44): Show | 48 | 368 | 0.1304 | -64 | c.262 others(83): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81308856 | ATACATAC others(57): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0043 | a0002c0002t0043g0191 | 1 | 264 | 0.0038 | -64 | c.742 others(83): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STOX2_chr4_183900307_184028526 | 183932335 | CAGTATAT others(57): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(103): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(36): Show | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0018others(103): Show | 106 | 318 | 0.3333 | -64 | c.166 others(83): Show |
STOX2 | ENSG00000173320.12 | transcript | ENST00000308497.9 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138637443 | GATAGATA others(57): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(200): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0036others(200): Show | 203 | 360 | 0.5639 | -64 | c.789 others(81): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63313734 | TATATATA others(57): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 246 | 0.0041 | -64 | c.84+ others(81): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48610528 | CGGAGGAG others(57): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00673.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0041a0001c0001t0001g0065a0001c0001t0001g0069others(45): Show | 48 | 258 | 0.1861 | -64 | c.113 others(83): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TARBP2_chr12_53496283_53511431 | 53498908 | CTGTGTGT others(57): Show |
C | upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | -64 | c.-25 others(75): Show |
TARBP2 | ENSG00000139546.12 | transcript | ENST00000266987.7 | protein_coding | 2374 | chr12 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47117300 | TCCACACC others(57): Show |
T | intron_variant | MODIFIER | HG03195.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0051a0001c0001t0011g0023 | 2 | 112 | 0.0179 | -64 | c.142 others(83): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TCF3_chr19_1604292_1657615 | 1628837 | ACGGGGTG others(57): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0013 | a0001c0013t0042 | a0001c0013t0042g0033 | 1 | 352 | 0.0028 | -64 | c.299 others(81): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TCF7L2_chr10_112945247_113172678 | 113117370 | TCTCTCTC others(57): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0119 | 1 | 200 | 0.0050 | -64 | c.553 others(83): Show |
TCF7L2 | ENSG00000148737.18 | transcript | ENST00000355995.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
TELO2_chr16_1488360_1515454 | 1507811 | GGTGTGTG others(57): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0161 | 1 | 446 | 0.0022 | -64 | c.240 others(81): Show |
TELO2 | ENSG00000100726.15 | transcript | ENST00000262319.11 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TEPSIN_chr17_81223277_81244055 | 81242494 | CCAAACTC others(57): Show |
C | upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0007 | 1 | 366 | 0.0027 | -64 | c.-35 others(75): Show |
TEPSIN | ENSG00000167302.11 | transcript | ENST00000637944.2 | protein_coding | 3440 | chr17 | TogoVar | ||||||
TFB2M_chr1_246535561_246571261 | 246549216 | TCAATTTT others(57): Show |
T | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 446 | 0.0022 | -64 | c.796 others(79): Show |
TFB2M | ENSG00000162851.8 | transcript | ENST00000366514.5 | protein_coding | 5/7 | chr1 | TogoVar | ||||||
TFDP1_chr13_113579753_113646473 | 113617595 | TTCACCTG others(57): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0030 | 1 | 348 | 0.0029 | -64 | c.80- others(79): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
THEG_chr19_356747_381026 | 360099 | CCTCAGCA others(57): Show |
C | downstream_gene_variant | MODIFIER | NA18984.hp1 NA19079.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0040a0002c0002t0002g0041 | 2 | 370 | 0.0054 | -64 | c.*20 others(75): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1647 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 360141 | CGACTCCG others(57): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01123.hp1 HG01516.hp1 others(11): Show |
a0001a0004a0006 | a0001c0001a0004c0007a0004c0016others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0012others(6): Show | a0001c0001t0005g0003a0001c0001t0007g0154a0001c0001t0007g0193others(10): Show | 14 | 370 | 0.0378 | -64 | c.*19 others(75): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1605 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 360683 | GGAGCGTC others(57): Show |
G | downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01928.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0242a0001c0001t0003g0243a0001c0001t0010g0232 | 3 | 370 | 0.0081 | -64 | c.*14 others(75): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1063 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 360745 | CAAGAGCA others(57): Show |
C | downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0226 | 1 | 370 | 0.0027 | -64 | c.*13 others(75): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1001 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 360947 | GGCTGGTT others(57): Show |
G | downstream_gene_variant | MODIFIER | HG02886.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
a0001a0004a0006 | a0001c0001a0004c0007a0006c0006 | a0001c0001t0012a0001c0001t0041a0004c0007t0012others(2): Show | a0001c0001t0012g0284a0001c0001t0041g0121a0004c0007t0012g0138others(3): Show | 6 | 370 | 0.0162 | -64 | c.*11 others(75): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 799 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 361075 | GGCTGGTT others(57): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 NA18965.hp1 |
a0001a0007 | a0001c0009a0007c0010 | a0001c0009t0003a0007c0010t0003 | a0001c0009t0003g0342a0007c0010t0003g0185 | 2 | 370 | 0.0054 | -64 | c.*10 others(75): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 671 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 361139 | AGCTGGTT others(57): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00673.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0160a0001c0001t0001g0249a0001c0001t0002g0053others(1): Show | 4 | 370 | 0.0108 | -64 | c.*99 others(74): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 607 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 361385 | CAGGAGCG others(57): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp1 HG02886.hp2 HG02970.hp2 others(4): Show |
a0001a0004a0006 | a0001c0001a0004c0007a0006c0006 | a0001c0001t0012a0001c0001t0023a0001c0001t0041others(3): Show | a0001c0001t0012g0284a0001c0001t0023g0294a0001c0001t0041g0121others(4): Show | 7 | 370 | 0.0189 | -64 | c.*75 others(73): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 361 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 361449 | GAGGAGCG others(57): Show |
G | downstream_gene_variant | MODIFIER | NA18984.hp2 NA20905.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0070a0002c0002t0001g0274 | 2 | 370 | 0.0054 | -64 | c.*68 others(73): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 297 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 361656 | GTTTGACT others(57): Show |
G | downstream_gene_variant | MODIFIER | HG02056.hp2 HG02523.hp1 NA18942.hp2 others(1): Show |
a0001a0002 | a0001c0009a0001c0023a0002c0002 | a0001c0009t0002a0001c0023t0001a0002c0002t0001others(1): Show | a0001c0009t0002g0097a0001c0023t0001g0134a0002c0002t0001g0334others(1): Show | 4 | 370 | 0.0108 | -64 | c.*48 others(73): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 90 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 361715 | AGCTGCTT others(57): Show |
A | splice_region_variant | LOW | HG02886.hp1 HG02886.hp2 HG02970.hp2 others(4): Show |
a0001a0004a0006 | a0001c0001a0004c0007a0006c0006 | a0001c0001t0012a0001c0001t0041a0001c0001t0056others(3): Show | a0001c0001t0012g0284a0001c0001t0041g0121a0001c0001t0056g0267others(4): Show | 7 | 370 | 0.0189 | -64 | c.*42 others(73): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 8/8 | chr19 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155027867 | CTATATAA others(57): Show |
C | intron_variant | MODIFIER | NA18955.hp1 NA18988.hp1 NA19077.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0100a0001c0002t0001g0162a0001c0002t0003g0133 | 3 | 230 | 0.0130 | -64 | c.-20 others(85): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TIAM2_chr6_154990315_155262723 | 155028675 | ATATATAC others(57): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 NA19240.hp2 others(1): Show |
a0001 | a0001c0002a0001c0005a0001c0053 | a0001c0002t0001a0001c0002t0013a0001c0005t0006others(1): Show | a0001c0002t0001g0061a0001c0002t0013g0224a0001c0005t0006g0009others(1): Show | 4 | 230 | 0.0174 | -64 | c.-20 others(85): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |