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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2180): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0080 | 1 | 4 | 0.2500 | 2187 | c.515 others(2204): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2180): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0015 | a0015c0071 | a0015c0071t0001 | a0015c0071t0001g0046 | 1 | 34 | 0.0294 | 2187 | c.299 others(2202): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(2180): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 82 | 0.0122 | 2187 | c.147 others(2204): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2180): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0067 | a0001c0067t0068 | a0001c0067t0068g0110 | 1 | 4 | 0.2500 | 2187 | c.291 others(2206): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431922 | T | TAGTGTGG others(2180): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0098 | 1 | 327 | 0.0031 | 2187 | c.101 others(2206): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(2180): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0026 | a0001c0026t0002 | a0001c0026t0002g0366 | 1 | 278 | 0.0036 | 2187 | c.101 others(2204): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(2180): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0177 | 1 | 228 | 0.0044 | 2187 | c.101 others(2204): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2181): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0040 | 1 | 7 | 0.1429 | 2188 | c.*16 others(2199): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2181): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 7 | 0.1429 | 2188 | c.*16 others(2199): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2181): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0183 | 1 | 7 | 0.1429 | 2188 | c.*16 others(2199): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2181): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0019 | 1 | 7 | 0.1429 | 2188 | c.*22 others(2199): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2181): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 7 | 0.1429 | 2188 | c.*22 others(2199): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586449 | C | CCGGGGGG others(2181): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0008 | 1 | 244 | 0.0041 | 2188 | c.157 others(2205): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406286 | T | TCTTCCTC others(2181): Show |
3_prime_UTR_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0073 | 1 | 261 | 0.0038 | 2188 | c.*54 others(2197): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 547 | chr2 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2181): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 249 | 0.0040 | 2188 | c.-11 others(2199): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2181): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0004 | a0004c0005 | a0004c0005t0025 | a0004c0005t0025g0027 | 1 | 51 | 0.0196 | 2188 | c.183 others(2205): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(2182): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0103 | 1 | 204 | 0.0049 | 2189 | c.106 others(2208): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(2182): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 42 | 0.0238 | 2189 | c.179 others(2204): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(2182): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01928.hp2 HG02698.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0080a0002c0008a0004c0004others(2): Show | a0001c0080t0001a0002c0008t0006a0004c0004t0002others(2): Show | a0001c0080t0001g0043 a0002c0008t0006g0134 a0004c0004t0002g0061 others(2): Show |
5 | 46 | 0.1087 | 2189 | c.179 others(2204): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0257 | 1 | 156 | 0.0064 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG02922.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0100 a0001c0002t0008g0177 |
2 | 157 | 0.0127 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0010 | 1 | 156 | 0.0064 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01169.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0209 a0001c0004t0003g0210 |
2 | 157 | 0.0127 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(25): Show |
a0001 | a0001c0002a0001c0004a0001c0014 | a0001c0002t0003a0001c0002t0004a0001c0002t0015others(5): Show | a0001c0002t0003g0118 a0001c0002t0003g0132 a0001c0002t0003g0138 others(25): Show |
28 | 183 | 0.1530 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0228 | 1 | 156 | 0.0064 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | NA19070.hp1 NA19074.hp2 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0004 | a0001c0004t0003g0167 a0001c0004t0004g0013 |
2 | 157 | 0.0127 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01255.hp1 HG01257.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0009others(1): Show | a0001c0002t0006a0001c0002t0007a0001c0004t0003others(4): Show | a0001c0002t0006g0190 a0001c0002t0006g0206 a0001c0002t0007g0045 others(6): Show |
9 | 164 | 0.0549 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(31): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0105 a0001c0002t0001g0111 a0001c0002t0001g0119 others(31): Show |
34 | 189 | 0.1799 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG02257.hp1 HG02451.hp2 others(12): Show |
a0001 | a0001c0002a0001c0004a0001c0010others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(4): Show | a0001c0002t0001g0239 a0001c0002t0001g0254 a0001c0002t0002g0015 others(12): Show |
15 | 170 | 0.0882 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0182 | 1 | 156 | 0.0064 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAG others(2182): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0179 | 1 | 156 | 0.0064 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2182): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0157 | 1 | 33 | 0.0303 | 2189 | c.212 others(2208): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298680 | A | ACATTATT others(2182): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0016 | a0002c0016t0026 | a0002c0016t0026g0148 | 1 | 170 | 0.0059 | 2189 | c.734 others(2204): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2182): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2189 | c.-20 others(2200): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(2183): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 223 | 0.0045 | 2190 | c.*36 others(2201): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(2183): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 1 | 89 | 0.0112 | 2190 | c.128 others(2205): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(2183): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0010 | a0010c0021 | a0010c0021t0003 | a0010c0021t0003g0018 | 1 | 249 | 0.0040 | 2190 | c.228 others(2207): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(2183): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 249 | 0.0040 | 2190 | c.228 others(2207): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2183): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 | a0005 | a0005c0117 | a0005c0117t0040 | a0005c0117t0040g0227 | 1 | 311 | 0.0032 | 2190 | c.-50 others(2201): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2183): Show |
upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0149 | 1 | 311 | 0.0032 | 2190 | c.-50 others(2201): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2183): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0119 | 1 | 311 | 0.0032 | 2190 | c.-50 others(2201): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323366 | T | TATGGAAT others(2183): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0138 | 1 | 293 | 0.0034 | 2190 | c.-16 others(2201): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1603 | chr21 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2183): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01261.hp1 NA20805.hp1 |
a0001a0002a0003 | a0001c0001a0002c0010a0003c0003 | a0001c0001t0056a0002c0010t0019a0003c0003t0101 | a0001c0001t0056g0062 a0002c0010t0019g0127 a0003c0003t0101g0172 |
3 | 53 | 0.0566 | 2190 | c.183 others(2207): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2183): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0004 | a0001c0004t0061 | a0001c0004t0061g0107 | 1 | 51 | 0.0196 | 2190 | c.183 others(2207): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2183): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2190 | c.-20 others(2201): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693708 | A | ACCTCCAC others(2183): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0029 | 1 | 49 | 0.0204 | 2190 | c.299 others(2207): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23044314 | T | TCACCTGG others(2183): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 327 | 0.0031 | 2190 | c.-47 others(2201): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4746 | chr15 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238871146 | C | CCACACAC others(2183): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 299 | 0.0033 | 2190 | c.*35 others(2209): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169360 | C | CCACCTCT others(2183): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0033 | 1 | 113 | 0.0088 | 2190 | c.*67 others(2199): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 583 | chrX | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706449 | C | CATAGATA others(2184): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0289 | 1 | 232 | 0.0043 | 2191 | c.228 others(2208): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar |