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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIPR1_chr2_3183970_3382818 | 3315836 | C | CCCCCTAC others(1066): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 199 | 0.0050 | 1073 | c.259 others(1092): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355457 | A | AGGAGGAA others(1066): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0014 | a0014c0025 | a0014c0025t0001 | a0014c0025t0001g0072 | 1 | 73 | 0.0137 | 1073 | c.758 others(1088): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6261580 | G | GCCCTCCA others(1066): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01106.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0007a0001c0009t0001 | a0001c0001t0007g0257 a0001c0009t0001g0072 |
2 | 189 | 0.0106 | 1073 | c.571 others(1090): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240184928 | A | ACTTTCTC others(1066): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0056 | a0056c0116 | a0056c0116t0001 | a0056c0116t0001g0123 | 1 | 145 | 0.0069 | 1073 | c.193 others(1092): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218336 | C | CAACACCA others(1066): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 23 | 0.0435 | 1073 | c.*28 others(1084): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1167 | chr8 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 322008 | G | GCCAGCAT others(1066): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0020 | a0001c0020t0003 | a0001c0020t0003g0103 | 1 | 147 | 0.0068 | 1073 | c.-32 others(1084): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3213 | chrX | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1066): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 | 1 | 114 | 0.0088 | 1073 | c.193 others(1092): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1066): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0010 | 1 | 3 | 0.3333 | 1073 | c.-12 others(1092): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432644 | G | GGAGGAGA others(1066): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 62 | 0.0161 | 1073 | c.225 others(1090): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1066): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 2 | 0.5000 | 1073 | c.438 others(1090): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79554464 | C | CACCTGGC others(1066): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0019 | 1 | 79 | 0.0127 | 1073 | c.-32 others(1094): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(1066): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0010 | a0010c0008 | a0010c0008t0030 | a0010c0008t0030g0100 | 1 | 133 | 0.0075 | 1073 | c.389 others(1094): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC1A2_chr11_35246205_35424558 | 35248627 | G | GGTGCATG others(1066): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0284 | 1 | 204 | 0.0049 | 1073 | c.*12 others(1086): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2577 | chr11 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248627 | G | GGTGCATG others(1066): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0189 | 1 | 204 | 0.0049 | 1073 | c.*12 others(1086): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2577 | chr11 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248627 | G | GGTGCATG others(1066): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG02622.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0013a0001c0001t0026a0001c0001t0036others(4): Show | a0001c0001t0013g0276 a0001c0001t0013g0288 a0001c0001t0013g0291 others(7): Show |
11 | 214 | 0.0514 | 1073 | c.*12 others(1086): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2577 | chr11 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(1066): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 82 | 0.0122 | 1073 | c.12+ others(1088): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(1066): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0087 | 1 | 149 | 0.0067 | 1073 | c.*73 others(1084): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273782 | C | CACGACCG others(1066): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 244 | 0.0041 | 1073 | c.228 others(1092): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238871163 | C | CCACACAC others(1066): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 315 | 0.0032 | 1073 | c.*35 others(1092): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467183 | G | GGGGAGGG others(1066): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 264 | 0.0038 | 1073 | c.*80 others(1082): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 674 | chrX | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1067): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0123 | 1 | 3 | 0.3333 | 1074 | c.787 others(1089): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400231 | C | CCCCTCCC others(1067): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0129 | 1 | 190 | 0.0053 | 1074 | c.273 others(1091): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GCAGTGTG others(1067): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp2 others(77): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(29): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(77): Show |
80 | 130 | 0.6154 | 1074 | c.305 others(1091): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GCAGTGTG others(1067): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 51 | 0.0196 | 1074 | c.305 others(1091): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GCAGTGTG others(1067): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 51 | 0.0196 | 1074 | c.305 others(1091): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GCAGTGTG others(1067): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0139 | 1 | 51 | 0.0196 | 1074 | c.305 others(1091): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GCAGTGTG others(1067): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0036 a0001c0006t0004g0115 |
2 | 52 | 0.0385 | 1074 | c.305 others(1091): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GCAGTGTG others(1067): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0077 | 1 | 51 | 0.0196 | 1074 | c.305 others(1091): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GCGGTGTG others(1067): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03209.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0069 | a0001c0001t0021g0094 a0001c0001t0021g0240 a0001c0001t0069g0093 |
3 | 53 | 0.0566 | 1074 | c.305 others(1091): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872979 | C | CAGTGTGA others(1067): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0009 | a0009c0038 | a0009c0038t0071 | a0009c0038t0071g0044 | 1 | 234 | 0.0043 | 1074 | c.305 others(1091): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | chr13 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241570996 | T | TGGGGGTG others(1067): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(30): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0005a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0005g0015 a0001c0001t0005g0044 a0001c0001t0005g0049 others(21): Show |
33 | 390 | 0.0846 | 1074 | c.513 others(1089): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99506778 | A | ACATAATC others(1067): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG01975.hp2 HG02258.hp1 others(22): Show |
a0002a0003a0004others(1): Show | a0002c0003a0002c0004a0002c0009others(3): Show | a0002c0003t0001a0002c0004t0001a0002c0009t0001others(3): Show | a0002c0003t0001g0107 a0002c0004t0001g0070 a0002c0004t0001g0071 others(19): Show |
25 | 380 | 0.0658 | 1074 | c.-45 others(1085): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4242 | chr4 | TogoVar | |||||||
C4orf17_chr4_99506021_99547303 | 99506778 | A | ACATAATC others(1067): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01257.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 others(1): Show |
4 | 359 | 0.0111 | 1074 | c.-45 others(1085): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4242 | chr4 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(1067): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0008 | a0008c0016 | a0008c0016t0002 | a0008c0016t0002g0164 | 1 | 174 | 0.0057 | 1074 | c.342 others(1095): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255786 | A | AGGGGGAA others(1067): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0024 | a0002c0024t0010 | a0002c0024t0010g0334 | 1 | 315 | 0.0032 | 1074 | c.85- others(1091): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647275 | A | ACAATCCT others(1067): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 217 | 0.0046 | 1074 | c.*51 others(1085): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1931 | chr15 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478181 | G | GGGGAGGG others(1067): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 87 | 0.0115 | 1074 | c.158 others(1091): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1067): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0169 | a0001c0169t0001 | a0001c0169t0001g0179 | 1 | 98 | 0.0102 | 1074 | c.118 others(1093): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1067): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0120 | a0120c0047 | a0120c0047t0001 | a0120c0047t0001g0091 | 1 | 98 | 0.0102 | 1074 | c.118 others(1093): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241343 | C | CCACACAC others(1067): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0021 | 1 | 178 | 0.0056 | 1074 | c.107 others(1093): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241441 | C | CCTTCCAG others(1067): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 |
2 | 172 | 0.0116 | 1074 | c.107 others(1093): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241523 | C | CCACACAC others(1067): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0103 | 1 | 142 | 0.0070 | 1074 | c.107 others(1093): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241672 | C | CGGGGCCC others(1067): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0176 | 1 | 148 | 0.0068 | 1074 | c.107 others(1093): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399234 | A | ACCACCAC others(1067): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 308 | 0.0032 | 1074 | c.-25 others(1091): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(1067): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 198 | 0.0051 | 1074 | c.804 others(1091): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1067): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0180 | 1 | 249 | 0.0040 | 1074 | c.-36 others(1085): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1067): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0126 | 1 | 235 | 0.0043 | 1074 | c.*87 others(1083): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400231 | C | CCCCTCCC others(1067): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 252 | 0.0040 | 1074 | c.*66 others(1085): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3243 | chr2 | TogoVar | |||||||
MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
conservative_inframe_insertion | MODERATE | NA20905.hp2 | a0141 | a0141c0233 | a0141c0233t0001 | a0141c0233t0001g0107 | 1 | 175 | 0.0057 | 1074 | c.253 others(1083): Show |
p.Gly others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2597/16366 | 2539/16008 | 847/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
conservative_inframe_insertion | MODERATE | NA19081.hp1 | a0135 | a0135c0232 | a0135c0232t0001 | a0135c0232t0001g0204 | 1 | 175 | 0.0057 | 1074 | c.253 others(1083): Show |
p.Gly others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2597/16366 | 2539/16008 | 847/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |