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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYNLT2B_chr3_196286219_196323240 | 196320075 | ACCACTGC others(2851): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 328 | 0.0030 | -2858 | c.-47 others(11): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1836 | chr3 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196320075 | ACCACTGC others(2851): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0111 | 1 | 368 | 0.0027 | -2858 | c.*88 others(10): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 3471 | chr3 | TogoVar | |||||||
PRR33_chr11_1883078_1896895 | 1894042 | TGGCTGGA others(2846): Show |
T | upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 306 | 0.0033 | -2853 | c.-63 others(11): Show |
PRR33 | ENSG00000283787.2 | transcript | ENST00000640310.2 | protein_coding | 2148 | chr11 | TogoVar | |||||||
CREBRF_chr5_173051352_173144284 | 173068983 | AATTGCTT others(2841): Show |
A | intron_variant | MODIFIER | HG03491.hp1 HG04199.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0038 a0001c0002t0005g0041 |
2 | 290 | 0.0069 | -2848 | c.-19 others(20): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PRR33_chr11_1883078_1896895 | 1894047 | GGAGTGTG others(2841): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(301): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0009a0001c0012others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(33): Show |
304 | 306 | 0.9935 | -2848 | c.-63 others(11): Show |
PRR33 | ENSG00000283787.2 | transcript | ENST00000640310.2 | protein_coding | 2153 | chr11 | TogoVar | |||||||
S100A11_chr1_152027506_152042004 | 152039157 | CGCCTCCC others(2840): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 359 | 0.0028 | -2847 | c.-50 others(11): Show |
S100A11 | ENSG00000163191.6 | transcript | ENST00000271638.3 | protein_coding | 2154 | chr1 | TogoVar | |||||||
SLC1A1_chr9_4485468_4592469 | 4501099 | GTGTCCAA others(2840): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02970.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0002g0344 a0001c0001t0005g0145 a0001c0001t0005g0335 others(5): Show |
8 | 382 | 0.0209 | -2847 | c.91+ others(17): Show |
SLC1A1 | ENSG00000106688.12 | transcript | ENST00000262352.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZNF30_chr19_34921903_34950168 | 34932578 | TTAATATA others(2840): Show |
T | exon_loss_variant others(4): Show |
HIGH | NA18967.hp1 | a0018 | a0018c0017 | a0018c0017t0003 | a0018c0017t0003g0151 | 1 | 410 | 0.0024 | -2847 | c.160 others(16): Show |
ZNF30 | ENSG00000168661.15 | transcript | ENST00000601142.2 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
PRR33_chr11_1883078_1896895 | 1894049 | AGTGTGGG others(2839): Show |
A | upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 306 | 0.0033 | -2846 | c.-63 others(11): Show |
PRR33 | ENSG00000283787.2 | transcript | ENST00000640310.2 | protein_coding | 2155 | chr11 | TogoVar | |||||||
DCPS_chr11_126299060_126355005 | 126314413 | TTACGGGA others(2838): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0108 | 1 | 340 | 0.0029 | -2845 | c.376 others(18): Show |
DCPS | ENSG00000110063.10 | transcript | ENST00000263579.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3568914 | CTGACCTC others(2833): Show |
C | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0027 | 1 | 80 | 0.0125 | -2840 | c.196 others(19): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 8/12 | chr18 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1088059 | GAAAGTGC others(2833): Show |
G | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0043a0002c0002t0010 | a0001c0001t0043g0156 a0002c0002t0010g0087 a0002c0002t0010g0089 others(2): Show |
5 | 160 | 0.0313 | -2840 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | chr12 | TogoVar | |||||||
SLC18A1_chr8_20139855_20188136 | 20156313 | TCTGTTAA others(2829): Show |
T | intron_variant | MODIFIER | NA18980.hp1 NA18981.hp2 NA19009.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0010 | 3 | 432 | 0.0069 | -2836 | c.101 others(19): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1343382 | CTTTTCCC others(2829): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0149 | 1 | 185 | 0.0054 | -2836 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIAA2013_chr1_11914591_11931427 | 11928592 | TGCCTCAG others(2828): Show |
T | upstream_gene_variant | MODIFIER | HG04228.hp1 NA18948.hp2 NA18952.hp1 others(4): Show |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0001a0002c0004t0001 | a0001c0005t0001g0070 a0002c0004t0001g0016 a0002c0004t0001g0071 |
7 | 442 | 0.0158 | -2835 | c.-51 others(11): Show |
KIAA2013 | ENSG00000116685.17 | transcript | ENST00000376572.8 | protein_coding | 2166 | chr1 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1429523 | GCTGTGCC others(2827): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01496.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0061 a0001c0001t0001g0130 a0001c0001t0003g0266 |
3 | 281 | 0.0107 | -2834 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77864098 | GTTGCCCT others(2826): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0057 | a0001c0057t0022 | a0001c0057t0022g0110 | 1 | 330 | 0.0030 | -2833 | c.373 others(17): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 2/31 | chr10 | TogoVar | |||||||
SESN3_chr11_95160513_95236202 | 95207145 | AAGTTTAA others(2826): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG03491.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0065 | a0001c0001t0030g0231 a0001c0001t0030g0291 a0001c0001t0030g0292 others(1): Show |
4 | 390 | 0.0103 | -2833 | c.79- others(17): Show |
SESN3 | ENSG00000149212.12 | transcript | ENST00000536441.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
OR6M1_chr11_123800408_123811349 | 123808260 | CTGGGCTG others(2824): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0000 | 1 | 470 | 0.0021 | -2831 | c.-47 others(11): Show |
OR6M1 | ENSG00000196099.5 | transcript | ENST00000309154.3 | protein_coding | 1912 | chr11 | TogoVar | |||||||
LTBP1_chr2_32941953_33404509 | 32999395 | AGACATGG others(2823): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(54): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(44): Show | a0001c0001t0001g0060 a0001c0001t0003g0127 a0001c0001t0003g0129 others(54): Show |
57 | 162 | 0.3519 | -2830 | c.566 others(19): Show |
LTBP1 | ENSG00000049323.16 | transcript | ENST00000404816.7 | protein_coding | 2/33 | chr2 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2093115 | GTGAGGAC others(2823): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 284 | 0.0035 | -2830 | c.334 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132232337 | AGACAGCG others(2821): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 NA18952.hp2 others(1): Show |
a0001 | a0001c0011a0001c0013a0001c0034 | a0001c0011t0001a0001c0013t0004a0001c0034t0004 | a0001c0011t0001g0058 a0001c0011t0001g0130 a0001c0013t0004g0124 others(1): Show |
4 | 179 | 0.0223 | -2828 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
SBK3_chr19_55535656_55550543 | 55547717 | TTGAACCC others(2819): Show |
T | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 436 | 0.0023 | -2826 | c.-50 others(11): Show |
SBK3 | ENSG00000231274.5 | transcript | ENST00000612221.1 | protein_coding | 2175 | chr19 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1070350 | GCCCCCAG others(2819): Show |
G | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0050 | 1 | 113 | 0.0088 | -2826 | c.224 others(18): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
STK17A_chr7_43578108_43632379 | 43589652 | GTCATCCA others(2819): Show |
G | intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0204 | 1 | 390 | 0.0026 | -2826 | c.206 others(17): Show |
STK17A | ENSG00000164543.7 | transcript | ENST00000319357.6 | protein_coding | 1/6 | chr7 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44600466 | GCCATGTT others(2815): Show |
G | intron_variant | MODIFIER | HG02486.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0105 a0001c0001t0002g0042 |
2 | 198 | 0.0101 | -2822 | c.377 others(21): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CLIC4_chr1_24740447_24849321 | 24832196 | TTTGATTT others(2815): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(315): Show |
319 | 342 | 0.9327 | -2822 | c.415 others(17): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HRNR_chr1_152207076_152229193 | 152214266 | CGGAGCCA others(2813): Show |
C | conservative_inframe_deletion | MODERATE | HG01433.hp2 HG01884.hp1 HG02109.hp1 others(5): Show |
a0004a0006a0011 | a0004c0012a0006c0029a0011c0049 | a0004c0012t0004a0006c0029t0004a0011c0049t0004 | a0004c0012t0004g0017 a0004c0012t0004g0147 a0006c0029t0004g0043 others(1): Show |
8 | 411 | 0.0195 | -2820 | c.454 others(9): Show |
p.Ser others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7438/9629 | 4543/8553 | 1515/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215156 | CGGGAAGA others(2813): Show |
C | disruptive_inframe_deletion | MODERATE | NA21309.hp2 | a0001 | a0001c0159 | a0001c0159t0013 | a0001c0159t0013g0159 | 1 | 415 | 0.0024 | -2820 | c.365 others(9): Show |
p.His others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6548/9629 | 3653/8553 | 1218/2850 | chr1 | TogoVar | |||
H4C11_chr6_27819092_27829480 | 27823802 | GTCAGCCA others(2809): Show |
G | transcript_ablation | HIGH | HG02148.hp1 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 396 | 0.0025 | -2816 | c.-32 others(10): Show |
p.0? | H4C11 | ENSG00000197238.5 | transcript | ENST00000355057.3 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 220048133 | GCCTGTAA others(2807): Show |
G | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG02132.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0060 others(2): Show |
5 | 356 | 0.0140 | -2814 | c.-45 others(11): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 1629 | chr1 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 253675 | CGTTACTA others(2807): Show |
C | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0023 | 1 | 127 | 0.0079 | -2814 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SLC9B1_chr4_102895928_103024705 | 102901660 | CTTAGTTG others(2805): Show |
C | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 316 | 0.0032 | -2812 | c.133 others(18): Show |
SLC9B1 | ENSG00000164037.17 | transcript | ENST00000296422.12 | protein_coding | 11/11 | chr4 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3635430 | CGCCCGGC others(2801): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02965.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0028 | a0001c0001t0002g0047 a0001c0003t0028g0036 |
2 | 80 | 0.0250 | -2808 | c.159 others(21): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1637297 | TCATGAGG others(2790): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG02273.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0002c0002t0002 | a0001c0001t0002g0167 a0001c0001t0005g0164 a0002c0002t0002g0217 |
3 | 216 | 0.0139 | -2797 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201281925 | TTCAAATT others(2785): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(213): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(121): Show |
216 | 384 | 0.5625 | -2792 | c.803 others(15): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCHS2_chr4_154226742_154496799 | 154346511 | AACATGTC others(2785): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02922.hp2 |
a0043a0065 | a0043c0103a0065c0045 | a0043c0103t0018a0065c0045t0001 | a0043c0103t0018g0134 a0065c0045t0001g0044 |
2 | 190 | 0.0105 | -2792 | c.247 others(21): Show |
DCHS2 | ENSG00000197410.14 | transcript | ENST00000357232.10 | protein_coding | 3/19 | chr4 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129545578 | CATGAACA others(2784): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02896.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0007t0002a0001c0007t0004others(2): Show | a0001c0001t0001g0018 a0001c0007t0002g0013 a0001c0007t0004g0011 others(4): Show |
7 | 224 | 0.0313 | -2791 | c.132 others(19): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1429577 | TCAGCAGT others(2780): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG03209.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0076 |
3 | 346 | 0.0087 | -2787 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ZNF267_chr16_31868807_31922357 | 31910157 | GCTAACAC others(2780): Show |
G | intron_variant | MODIFIER | HG02723.hp2 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0145 a0002c0002t0002g0146 |
2 | 214 | 0.0093 | -2787 | c.227 others(17): Show |
ZNF267 | ENSG00000185947.15 | transcript | ENST00000300870.15 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123052145 | TTTTTTCT others(2778): Show |
T | intron_variant | MODIFIER | NA18966.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0091 a0001c0001t0008g0092 |
2 | 260 | 0.0077 | -2785 | c.208 others(19): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPDYE3_chr7_100302702_100327196 | 100311106 | CAAAAAAA others(2776): Show |
C | exon_loss_variant | HIGH | HG01943.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0052 |
2 | 306 | 0.0065 | -2783 | c.545 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE3_chr7_100302702_100327196 | 100311491 | AAAAAAAA others(2775): Show |
A | exon_loss_variant | HIGH | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0094 | 1 | 342 | 0.0029 | -2782 | c.545 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE3_chr7_100302702_100327196 | 100312247 | GATTGCTT others(2775): Show |
G | exon_loss_variant | HIGH | HG01106.hp1 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0090 | 1 | 342 | 0.0029 | -2782 | c.763 others(16): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF665_chr19_53157424_53198358 | 53185916 | AGGGTTTT others(2775): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(382): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0003others(17): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(54): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(343): Show |
385 | 406 | 0.9483 | -2782 | c.-46 others(17): Show |
ZNF665 | ENSG00000197497.11 | transcript | ENST00000396424.5 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
PPP1R15B_chr1_204398381_204416817 | 204412721 | TTTGAGAC others(2771): Show |
T | upstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 391 | 0.0026 | -2778 | c.-40 others(11): Show |
PPP1R15B | ENSG00000158615.10 | transcript | ENST00000367188.5 | protein_coding | 905 | chr1 | TogoVar | |||||||
IRAK2_chr3_10159919_10248745 | 10184487 | TAGCCTTC others(2766): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02717.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0007a0003c0004t0001 | a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0279 others(4): Show |
7 | 290 | 0.0241 | -2773 | c.277 others(17): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OTULINL_chr5_14576792_14621180 | 14589014 | GGAGACAC others(2766): Show |
G | intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 378 | 0.0026 | -2773 | c.64+ others(15): Show |
OTULINL | ENSG00000145569.6 | transcript | ENST00000274217.4 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47449177 | TGCTGTTT others(2766): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(127): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0005a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0135 a0001c0001t0001g0172 a0001c0001t0001g0173 others(127): Show |
130 | 302 | 0.4305 | -2773 | c.-98 others(17): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
TANGO6_chr16_68838531_69090182 | 69029861 | ACTTTGGG others(2764): Show |
A | intron_variant | MODIFIER | HG02004.hp1 NA18952.hp2 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0033 others(1): Show |
4 | 208 | 0.0192 | -2771 | c.299 others(19): Show |
TANGO6 | ENSG00000103047.8 | transcript | ENST00000261778.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |