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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRB3_chr15_26538552_26778066 | 26716814 | C | CACAGCCC others(1078): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 204 | 0.0049 | 1085 | c.240 others(1104): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26716814 | C | CACAGCCC others(1078): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 204 | 0.0049 | 1085 | c.240 others(1104): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322940 | T | TATATATG others(1078): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0215 | 1 | 323 | 0.0031 | 1085 | c.-21 others(1096): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2029 | chr21 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1078): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0230 | 1 | 236 | 0.0042 | 1085 | c.193 others(1104): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1078): Show |
intron_variant | MODIFIER | HG00639.hp1 HG04115.hp2 NA18945.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0149a0001c0001t0002g0078a0001c0002t0001g0028others(1): Show | 4 | 236 | 0.0170 | 1085 | c.193 others(1104): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1078): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01261.hp1 others(26): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0022a0001c0001t0001g0031a0001c0001t0001g0037others(26): Show | 29 | 236 | 0.1229 | 1085 | c.193 others(1104): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1078): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18970.hp2 NA18999.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0060a0001c0001t0003g0023a0001c0001t0003g0063others(1): Show | 4 | 236 | 0.0170 | 1085 | c.193 others(1104): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1078): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0101 | 1 | 236 | 0.0042 | 1085 | c.193 others(1104): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1078): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0170 | 1 | 236 | 0.0042 | 1085 | c.193 others(1104): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81769 | C | CCTCCGGG others(1078): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 | 1 | 442 | 0.0023 | 1085 | c.301 others(1102): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPRL3_chr16_80386_143673 | 81769 | C | CCTCCGGG others(1078): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0007 | a0007c0012 | a0007c0012t0002 | a0007c0012t0002g0148 | 1 | 350 | 0.0029 | 1085 | c.*49 others(1096): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3616 | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79483438 | G | GCCTCCCT others(1078): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 154 | 0.0065 | 1085 | c.-31 others(1102): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1078): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0244 | 1 | 304 | 0.0033 | 1085 | c.347 others(1100): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249340 | G | GAGGATGA others(1078): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0047 | 1 | 214 | 0.0047 | 1085 | c.206 others(1104): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1078): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0138a0001c0001t0006g0196 | 2 | 372 | 0.0054 | 1085 | c.749 others(1100): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1078): Show |
intron_variant | MODIFIER | HG03942.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0240 | 2 | 372 | 0.0054 | 1085 | c.749 others(1100): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1078): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169 | 1 | 394 | 0.0025 | 1085 | c.129 others(1102): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACAP3_chr1_1287391_1312930 | 1289035 | C | CCGTGTCT others(1079): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 295 | 0.0068 | 1086 | c.*45 others(1097): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3355 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289471 | C | CCGTGTCT others(1079): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 295 | 0.0034 | 1086 | c.*40 others(1097): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2919 | chr1 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1079): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01517.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0199a0001c0001t0001g0203a0002c0002t0001g0004others(1): Show | 4 | 238 | 0.0168 | 1086 | c.787 others(1101): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251448 | G | GGAAGGGG others(1079): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 242 | 0.0041 | 1086 | c.927 others(1103): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1079): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 242 | 0.0041 | 1086 | c.927 others(1103): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGEF10L_chr1_17534698_17702869 | 17689485 | T | TCCCTCCC others(1079): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0141 | 1 | 168 | 0.0060 | 1086 | c.318 others(1105): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | chr1 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(1079): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0099 | a0001c0001t0001g0095a0001c0001t0099g0043 | 2 | 214 | 0.0094 | 1086 | c.565 others(1103): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(1079): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0217 | 1 | 398 | 0.0025 | 1086 | c.666 others(1101): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(1079): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0015 | 1 | 184 | 0.0054 | 1086 | c.449 others(1103): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1079): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0031 | a0003c0031t0007 | a0003c0031t0007g0027 | 1 | 384 | 0.0026 | 1086 | c.273 others(1101): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(1079): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0172 | 1 | 236 | 0.0042 | 1086 | c.342 others(1107): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | ATAATATA others(1079): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0080 | 1 | 236 | 0.0042 | 1086 | c.342 others(1107): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 516644 | A | ACGGGGTA others(1079): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 88 | 0.0114 | 1086 | c.86- others(1103): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1079): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0075 | a0075c0048 | a0075c0048t0001 | a0075c0048t0001g0169 | 1 | 252 | 0.0040 | 1086 | c.118 others(1105): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1079): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0144 | a0144c0030 | a0144c0030t0001 | a0144c0030t0001g0051 | 1 | 252 | 0.0040 | 1086 | c.118 others(1105): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948286 | G | GTGGTGGT others(1079): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02922.hp2 |
a0001 | a0001c0025a0001c0038 | a0001c0025t0002a0001c0038t0001 | a0001c0025t0002g0025a0001c0038t0001g0076 | 2 | 136 | 0.0147 | 1086 | c.47- others(1103): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EEF1A2_chr20_63483014_63504083 | 63486940 | C | CTCCACCC others(1079): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0143 | 1 | 374 | 0.0027 | 1086 | c.*13 others(1097): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1073 | chr20 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927921 | G | GTGGTGGT others(1079): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012 | 1 | 288 | 0.0035 | 1086 | c.190 others(1105): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1079): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 408 | 0.0025 | 1086 | c.376 others(1103): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1079): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02922.hp1 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0155a0001c0001t0001g0211 | 3 | 408 | 0.0074 | 1086 | c.376 others(1103): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551538 | G | GGGGAGGA others(1079): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 | 1 | 46 | 0.0217 | 1086 | c.-17 others(1105): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399379 | C | CCACCACC others(1079): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 314 | 0.0032 | 1086 | c.-25 others(1103): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399424 | T | TCATCACC others(1079): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 314 | 0.0032 | 1086 | c.-25 others(1103): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1079): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG03453.hp1 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0018 | 3 | 366 | 0.0082 | 1086 | c.-36 others(1097): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | ||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1079): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG03453.hp1 |
a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0015 | 3 | 348 | 0.0086 | 1086 | c.*87 others(1095): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1079): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 204 | 0.0049 | 1086 | c.978 others(1103): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KDM2B_chr12_121424096_121586023 | 121514830 | C | CCCCACAC others(1079): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0149 | 1 | 270 | 0.0037 | 1086 | c.104 others(1105): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1079): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 NA18966.hp2 NA18990.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 5 | 422 | 0.0119 | 1086 | c.-29 others(1097): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43495789 | A | AGGTAGTG others(1079): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0207 | 1 | 250 | 0.0040 | 1086 | c.633 others(1103): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MTERF3_chr8_96234402_96266610 | 96250651 | A | AAGAAGGA others(1079): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 294 | 0.0034 | 1086 | c.677 others(1101): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535464 | C | CGGGGAGC others(1079): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0007 | a0007c0022 | a0007c0022t0008 | a0007c0022t0008g0009a0007c0022t0008g0010 | 2 | 324 | 0.0062 | 1086 | c.140 others(1103): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135096116 | T | TCCTCCTT others(1079): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0035 | 1 | 360 | 0.0028 | 1086 | c.456 others(1101): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1079): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 NA18955.hp1 NA18993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 4 | 456 | 0.0088 | 1086 | c.*31 others(1097): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar |