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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGGG others(1089): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0005 | a0005c0017 | a0005c0017t0001 | a0005c0017t0001g0007 | 1 | 129 | 0.0078 | 1096 | c.86- others(1109): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25965072 | T | TAAAAAAG others(1089): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0083 | 1 | 164 | 0.0061 | 1096 | c.735 others(1117): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1089): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0020 | 1 | 124 | 0.0081 | 1096 | c.*65 others(1107): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406340 | A | AGGCTTCC others(1089): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0185 | 1 | 150 | 0.0067 | 1096 | c.*49 others(1105): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 493 | chr2 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120429 | G | GGGAGAGG others(1089): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0288 | 1 | 324 | 0.0031 | 1096 | c.353 others(1111): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1089): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0140 | 1 | 210 | 0.0048 | 1096 | c.-5+ others(1111): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2295687 | G | GACAGAGA others(1089): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 87 | 0.0115 | 1096 | c.-52 others(1117): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439072 | C | CAGAGACA others(1089): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0098 | a0001c0098t0007 | a0001c0098t0007g0178 | 1 | 174 | 0.0057 | 1096 | c.816 others(1113): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1089): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 4 | 0.2500 | 1096 | c.279 others(1111): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ATATATAC others(1089): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0242 a0001c0001t0002g0239 |
2 | 279 | 0.0072 | 1096 | c.-15 others(1107): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(1089): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02145.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0065 a0003c0003t0002g0297 |
2 | 246 | 0.0081 | 1096 | c.176 others(1115): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 166201 | C | CGGGGCGG others(1089): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0006 | a0006c0021 | a0006c0021t0044 | a0006c0021t0044g0199 | 1 | 199 | 0.0050 | 1096 | c.347 others(1115): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(1089): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 224 | 0.0045 | 1096 | c.107 others(1113): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18979.hp2 |
a0003a0005 | a0003c0010a0005c0006 | a0003c0010t0001a0005c0006t0001 | a0003c0010t0001g0163 a0005c0006t0001g0262 |
2 | 155 | 0.0129 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01109.hp1 HG02145.hp2 others(1): Show |
a0001a0004a0005others(1): Show | a0001c0005a0004c0004a0005c0006others(1): Show | a0001c0005t0001a0004c0004t0001a0005c0006t0001others(1): Show | a0001c0005t0001g0327 a0004c0004t0001g0226 a0005c0006t0001g0286 others(1): Show |
4 | 157 | 0.0255 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0257 | 1 | 154 | 0.0065 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0005 | 1 | 154 | 0.0065 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0156 | 1 | 154 | 0.0065 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02135.hp1 HG03831.hp2 others(1): Show |
a0002a0004a0006others(1): Show | a0002c0003a0004c0008a0006c0019others(1): Show | a0002c0003t0001a0004c0008t0001a0006c0019t0001others(1): Show | a0002c0003t0001g0347 a0004c0008t0001g0227 a0006c0019t0001g0316 others(1): Show |
4 | 157 | 0.0255 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1090): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0280 | 1 | 154 | 0.0065 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCTG others(1090): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0158 | 1 | 154 | 0.0065 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCTG others(1090): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0159 | 1 | 154 | 0.0065 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20669004 | G | GCCCAGTC others(1090): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0015 | a0005c0015t0004 | a0005c0015t0004g0055 | 1 | 358 | 0.0028 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1090): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0000 | 1 | 10 | 0.1000 | 1097 | c.*10 others(1110): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1090): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0000 | 1 | 10 | 0.1000 | 1097 | c.*10 others(1110): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251448 | G | GGAAGGGG others(1090): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03704.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 a0001c0002t0002g0020 |
2 | 225 | 0.0089 | 1097 | c.927 others(1114): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251561 | A | AAGGGAAG others(1090): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 240 | 0.0042 | 1097 | c.927 others(1114): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83026615 | T | TACACAGA others(1090): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0252 | 1 | 54 | 0.0185 | 1097 | c.297 others(1114): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939884 | A | AAGAAAGA others(1090): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0185 | 1 | 236 | 0.0042 | 1097 | c.403 others(1112): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1090): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00642.hp2 others(36): Show |
a0001a0004a0005others(5): Show | a0001c0010a0004c0002a0004c0077others(9): Show | a0001c0010t0001a0004c0002t0001a0004c0077t0001others(9): Show | a0001c0010t0001g0221 a0001c0010t0001g0236 a0001c0010t0001g0261 others(36): Show |
39 | 46 | 0.8478 | 1097 | c.328 others(1114): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647303 | A | ACCCCTAC others(1090): Show |
downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 220 | 0.0045 | 1097 | c.*51 others(1108): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1959 | chr15 | TogoVar | |||||||
CTU2_chr16_88701503_88720396 | 88713126 | T | TGAGAGCC others(1090): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 392 | 0.0026 | 1097 | c.738 others(1112): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315984 | G | GCCCCTAC others(1090): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 25 | 0.0400 | 1097 | c.259 others(1116): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1090): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0256 |
2 | 97 | 0.0206 | 1097 | c.119 others(1116): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1090): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0005 | a0001c0002t0001g0273 a0001c0002t0001g0276 a0001c0002t0004g0277 others(1): Show |
4 | 99 | 0.0404 | 1097 | c.119 others(1116): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574480 | A | AGGGGAGG others(1090): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 404 | 0.0025 | 1097 | c.119 others(1116): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551500 | G | GGAAGAGG others(1090): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0014 | 1 | 35 | 0.0286 | 1097 | c.-17 others(1116): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1090): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0070 | 1 | 114 | 0.0088 | 1097 | c.193 others(1116): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTATT others(1090): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 80 | 0.0125 | 1097 | c.125 others(1114): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1090): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02886.hp1 |
a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0036 a0001c0002t0036g0177 |
2 | 137 | 0.0146 | 1097 | c.127 others(1114): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTTC others(1090): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0029 | 1 | 132 | 0.0076 | 1097 | c.126 others(1116): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1090): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0029 | a0001c0001t0017g0272 a0001c0001t0029g0271 |
2 | 3 | 0.6667 | 1097 | c.234 others(1118): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1090): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01261.hp2 HG01516.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0225 a0001c0001t0004g0239 a0001c0001t0008g0100 others(5): Show |
8 | 9 | 0.8889 | 1097 | c.234 others(1118): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1090): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0038 | a0001c0001t0001g0056 a0001c0001t0038g0236 |
2 | 3 | 0.6667 | 1097 | c.234 others(1118): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1090): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 195 | 0.0051 | 1097 | c.347 others(1112): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1090): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03710.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 a0002c0002t0001g0074 |
2 | 101 | 0.0198 | 1097 | c.45- others(1112): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1090): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0197 | 1 | 100 | 0.0100 | 1097 | c.45- others(1112): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934601 | G | GGGCGGCT others(1090): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0318 | 1 | 346 | 0.0029 | 1097 | c.843 others(1114): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GGAGAAGG others(1090): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0172 | 1 | 94 | 0.0106 | 1097 | c.206 others(1116): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(1090): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0158 | 1 | 3 | 0.3333 | 1097 | c.597 others(1114): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar |