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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(645): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0207 | 1 | 292 | 0.0034 | 652 | c.*21 others(667): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(645): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0122 | 1 | 292 | 0.0034 | 652 | c.*21 others(667): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404061 | T | TGGGGGGG others(645): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0034 | 1 | 322 | 0.0031 | 652 | c.*30 others(663): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1383 | chr19 | TogoVar | |||||||
CKAP2_chr13_52450478_52481627 | 52460703 | C | CGGCCTCC others(645): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 406 | 0.0025 | 652 | c.156 others(667): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(645): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0141 | 1 | 270 | 0.0037 | 652 | c.162 others(673): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134729685 | C | CGTGTGTG others(645): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02647.hp2 HG03098.hp1 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0006a0001c0007t0015a0001c0007t0023 | a0001c0005t0006g0040 a0001c0007t0015g0200 a0001c0007t0023g0232 |
3 | 272 | 0.0110 | 652 | c.925 others(667): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978284 | A | ATATATAT others(645): Show |
intron_variant | MODIFIER | NA18990.hp1 NA19083.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0041 a0001c0001t0006g0003 a0001c0001t0007g0004 |
3 | 94 | 0.0319 | 652 | c.-2+ others(669): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716227 | A | ATGGTGGG others(645): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0138 |
2 | 170 | 0.0118 | 652 | c.86- others(665): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539822 | T | TCATATAT others(645): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0049 | 1 | 236 | 0.0042 | 652 | c.-22 others(663): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1578 | chr5 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218313 | A | ACACCACC others(645): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0003 | 1 | 106 | 0.0094 | 652 | c.*27 others(663): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1144 | chr8 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(645): Show |
intron_variant | MODIFIER | NA18968.hp2 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0144 |
2 | 208 | 0.0096 | 652 | c.-97 others(669): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(645): Show |
upstream_gene_variant | MODIFIER | NA18986.hp2 NA19000.hp2 |
a0003 | a0003c0003a0003c0023 | a0003c0003t0002a0003c0023t0008 | a0003c0003t0002g0254 a0003c0023t0008g0253 |
2 | 268 | 0.0075 | 652 | c.-28 others(663): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316000 | G | GACACACA others(645): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18956.hp2 NA18964.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 a0002c0002t0001g0115 a0002c0002t0001g0116 others(4): Show |
7 | 155 | 0.0452 | 652 | c.488 others(667): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316000 | G | GACACACA others(645): Show |
intron_variant | MODIFIER | HG00735.hp2 NA19057.hp2 |
a0002a0008 | a0002c0037a0008c0008 | a0002c0037t0003a0008c0008t0001 | a0002c0037t0003g0133 a0008c0008t0001g0021 |
2 | 155 | 0.0129 | 652 | c.488 others(667): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(645): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0005 | a0001c0005t0018 | a0001c0005t0018g0248 | 1 | 310 | 0.0032 | 652 | c.199 others(669): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(645): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0210 | 1 | 310 | 0.0032 | 652 | c.199 others(669): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(645): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0029 | a0029c0059 | a0029c0059t0017 | a0029c0059t0017g0280 | 1 | 282 | 0.0036 | 652 | c.258 others(669): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LY75_chr2_159798355_159909756 | 159874319 | G | GTTTTGTA others(645): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02015.hp1 HG02027.hp1 others(7): Show |
a0005a0038a0040 | a0005c0006a0038c0054a0040c0033 | a0005c0006t0001a0005c0006t0002a0038c0054t0008others(1): Show | a0005c0006t0001g0015 a0005c0006t0001g0019 a0005c0006t0001g0023 others(7): Show |
10 | 330 | 0.0303 | 652 | c.197 others(671): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(645): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 288 | 0.0035 | 652 | c.-32 others(663): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(645): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0069 | 1 | 362 | 0.0028 | 652 | c.-75 others(671): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397669 | T | TGTGGGGG others(645): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 356 | 0.0028 | 652 | c.91+ others(665): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOL4L_chr20_32438059_32590333 | 32563187 | G | GGGAGGGT others(645): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(103): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0066 others(103): Show |
106 | 196 | 0.5408 | 652 | c.321 others(671): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(645): Show |
intron_variant | MODIFIER | NA18967.hp1 NA18986.hp1 NA19000.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0050 a0002c0002t0002g0283 |
3 | 422 | 0.0071 | 652 | c.195 others(669): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NTM_chr11_131365615_132341822 | 131680400 | C | CGTCTGTG others(645): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 86 | 0.0116 | 652 | c.83- others(671): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PANK4_chr1_2503537_2531596 | 2522791 | C | CTATAGTG others(645): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0161 | 1 | 399 | 0.0025 | 652 | c.125 others(667): Show |
PANK4 | ENSG00000157881.16 | transcript | ENST00000378466.9 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54332298 | A | ATATTATT others(645): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01175.hp2 others(3): Show |
a0001a0004a0007others(2): Show | a0001c0001a0004c0004a0007c0010others(2): Show | a0001c0001t0001a0004c0004t0005a0007c0010t0001others(2): Show | a0001c0001t0001g0022 a0004c0004t0005g0024 a0004c0004t0005g0025 others(3): Show |
6 | 102 | 0.0588 | 652 | c.595 others(669): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54332298 | A | ATATTATT others(645): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG01261.hp2 others(1): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0004a0008c0016others(1): Show | a0001c0001t0001a0004c0004t0001a0008c0016t0001others(1): Show | a0001c0001t0001g0062 a0004c0004t0001g0022 a0008c0016t0001g0012 others(1): Show |
4 | 94 | 0.0426 | 652 | c.595 others(669): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(645): Show |
upstream_gene_variant | MODIFIER | NA19088.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 436 | 0.0046 | 652 | c.-26 others(663): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318220 | C | CCAGCCTC others(645): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01255.hp1 HG01496.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0153 |
3 | 360 | 0.0083 | 652 | c.*37 others(663): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3247 | chr5 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977728 | A | ACCAACCC others(645): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0229 | 1 | 408 | 0.0025 | 652 | c.215 others(671): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561410 | C | CTCCTAGT others(645): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0044 |
2 | 218 | 0.0092 | 652 | c.-50 others(663): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4856 | chr17 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 165942 | C | CCTCTGAT others(645): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0007 | a0001c0007t0110 | a0001c0007t0110g0151 | 1 | 210 | 0.0048 | 652 | c.347 others(671): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977728 | A | ACCAACCC others(645): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0162 | 1 | 422 | 0.0024 | 652 | c.*31 others(663): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1864 | chr1 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3181333 | A | AGCAGTCT others(645): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 210 | 0.0048 | 652 | c.38- others(667): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119843900 | G | GGACGGGG others(645): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0056 | a0001c0001t0055g0070 a0001c0001t0056g0072 |
2 | 252 | 0.0079 | 652 | c.139 others(671): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119843900 | G | GGACGGGG others(645): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 252 | 0.0040 | 652 | c.139 others(671): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119843900 | G | GGACGGGG others(645): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG02132.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0041 | a0001c0001t0001g0252 a0001c0001t0003g0099 a0001c0001t0003g0101 others(6): Show |
9 | 252 | 0.0357 | 652 | c.139 others(671): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(645): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026 | 1 | 67 | 0.0149 | 652 | c.159 others(669): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(645): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0272 | 1 | 308 | 0.0033 | 652 | c.-75 others(671): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668573 | T | TCTCCCCT others(645): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0012 | a0003c0012t0004 | a0003c0012t0004g0052 | 1 | 262 | 0.0038 | 652 | c.249 others(671): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SERPINE3_chr13_51334691_51369735 | 51348694 | G | GGACCCCC others(645): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03098.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0138 |
3 | 432 | 0.0069 | 652 | c.899 others(667): Show |
SERPINE3 | ENSG00000253309.7 | transcript | ENST00000681248.1 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827089 | C | CATATATT others(645): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 302 | 0.0033 | 652 | c.12+ others(667): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(645): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(75): Show |
a0003a0005a0006others(13): Show | a0003c0004a0003c0022a0003c0050others(16): Show | a0003c0004t0001a0003c0022t0001a0003c0050t0001others(16): Show | a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0006 others(72): Show |
78 | 268 | 0.2910 | 652 | c.266 others(669): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(645): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0223 | 1 | 256 | 0.0039 | 652 | c.924 others(669): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(645): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18943.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0003 | a0001c0001t0002g0213 a0002c0004t0003g0078 |
2 | 256 | 0.0078 | 652 | c.924 others(669): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(645): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 256 | 0.0039 | 652 | c.924 others(669): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(645): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01256.hp1 HG01496.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0004 | a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0085 others(8): Show |
11 | 256 | 0.0430 | 652 | c.924 others(669): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747371 | G | GCTGGGGT others(645): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0117 | 1 | 314 | 0.0032 | 652 | c.189 others(667): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747485 | C | CGGGAGTC others(645): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0031 | a0002c0002t0031g0303 | 1 | 314 | 0.0032 | 652 | c.189 others(667): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747485 | C | CGGGAGTC others(645): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0037 | 1 | 314 | 0.0032 | 652 | c.189 others(667): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |