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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2824): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0004 | a0001c0004t0040 | a0001c0004t0040g0094 | 1 | 8 | 0.1250 | 2831 | c.400 others(2850): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2824): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0121 | 1 | 8 | 0.1250 | 2831 | c.400 others(2850): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2824): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0030 | 1 | 8 | 0.1250 | 2831 | c.400 others(2850): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653979 | G | GAATAATG others(2824): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18949.hp1 NA19012.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0003a0002c0003t0003 | a0001c0001t0003g0064 a0001c0002t0003g0028 a0002c0003t0003g0262 |
3 | 230 | 0.0130 | 2831 | c.139 others(2852): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210653979 | G | GAATAATG others(2824): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0137 | 1 | 228 | 0.0044 | 2831 | c.139 others(2852): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210653979 | G | GAATAATG others(2824): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01261.hp2 HG03831.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0100 a0001c0001t0003g0138 a0001c0002t0003g0031 others(1): Show |
4 | 231 | 0.0173 | 2831 | c.139 others(2852): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210653979 | G | GAATAATG others(2824): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 | 1 | 228 | 0.0044 | 2831 | c.139 others(2852): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2824): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 10 | 0.1000 | 2831 | c.153 others(2850): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(2824): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 234 | 0.0043 | 2831 | c.-42 others(2842): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2824): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 159 | 0.0063 | 2831 | c.-27 others(2848): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2824): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0090 | 1 | 274 | 0.0036 | 2831 | c.130 others(2848): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(2824): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0075 | 1 | 20 | 0.0500 | 2831 | c.206 others(2850): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
ST8SIA5_chr18_46662821_46762053 | 46726621 | T | TTAAAATA others(2824): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 328 | 0.0030 | 2831 | c.132 others(2850): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
STT3A_chr11_125587852_125628091 | 125589067 | A | AAGAACTA others(2824): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 324 | 0.0031 | 2831 | c.-38 others(2842): Show |
STT3A | ENSG00000134910.14 | transcript | ENST00000392708.9 | protein_coding | 3784 | chr11 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2824): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0249 a0001c0001t0007g0250 |
2 | 39 | 0.0513 | 2831 | c.*19 others(2842): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2824): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0012 | a0012c0049 | a0012c0049t0053 | a0012c0049t0053g0245 | 1 | 229 | 0.0044 | 2831 | c.105 others(2850): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2825): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0055 | 1 | 371 | 0.0027 | 2832 | c.96+ others(2847): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2825): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0170 | 1 | 23 | 0.0435 | 2832 | c.137 others(2849): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2825): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0218 | 1 | 23 | 0.0435 | 2832 | c.137 others(2849): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2825): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0076 | 1 | 10 | 0.1000 | 2832 | c.153 others(2851): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406031 | G | GTGTCACT others(2825): Show |
3_prime_UTR_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0008 | 1 | 152 | 0.0066 | 2832 | c.*80 others(2841): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 802 | chr2 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195787496 | G | GAAGAGGG others(2825): Show |
conservative_inframe_insertion | MODERATE | HG02145.hp2 | a0058 | a0058c0162 | a0058c0162t0009 | a0058c0162t0009g0237 | 1 | 243 | 0.0041 | 2832 | c.408 others(2841): Show |
p.Leu others(2847): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4195/16756 | 4083/16239 | 1361/5412 | chr3 | TogoVar | |||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2825): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 34 | 0.0294 | 2832 | c.299 others(2847): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
ST8SIA5_chr18_46662821_46762053 | 46726621 | T | TTAAAATA others(2825): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0210 | 1 | 328 | 0.0030 | 2832 | c.132 others(2851): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2825): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01243.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 a0001c0001t0005g0252 a0001c0001t0005g0263 others(2): Show |
6 | 43 | 0.1395 | 2832 | c.*19 others(2843): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2825): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG03130.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 others(2): Show |
5 | 42 | 0.1190 | 2832 | c.*19 others(2843): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2825): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0086 | 1 | 229 | 0.0044 | 2832 | c.105 others(2851): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
ADGRE1_chr19_6882579_6945450 | 6916520 | G | GGGAAGTC others(2826): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 333 | 0.0030 | 2833 | c.142 others(2850): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2826): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0202 | 1 | 288 | 0.0035 | 2833 | c.96+ others(2848): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2826): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0204 | 1 | 288 | 0.0035 | 2833 | c.96+ others(2848): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(2826): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0152 | 1 | 9 | 0.1111 | 2833 | c.565 others(2850): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
EI24_chr11_125564477_125589684 | 125589067 | A | AAGAACTA others(2826): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0018 | 1 | 322 | 0.0031 | 2833 | c.*53 others(2844): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 4384 | chr11 | TogoVar | |||||||
GRIN2D_chr19_48388668_48449931 | 48424265 | A | ATTTTTTT others(2826): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0214 | 1 | 269 | 0.0037 | 2833 | c.225 others(2852): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424265 | A | ATTTTTTT others(2826): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0319 | 1 | 269 | 0.0037 | 2833 | c.225 others(2852): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424266 | T | TTTTTTTT others(2826): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02486.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0007t0004 | a0001c0002t0002g0288 a0001c0007t0004g0309 |
2 | 350 | 0.0057 | 2833 | c.225 others(2852): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424266 | T | TTTTTTTT others(2826): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0310 | 1 | 349 | 0.0029 | 2833 | c.225 others(2852): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2826): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0045 | a0045c0071 | a0045c0071t0001 | a0045c0071t0001g0036 | 1 | 8 | 0.1250 | 2833 | c.723 others(2850): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2826): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0040 | 1 | 274 | 0.0036 | 2833 | c.130 others(2850): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
ST8SIA5_chr18_46662821_46762053 | 46726621 | T | TTAAAATA others(2826): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0333 | 1 | 328 | 0.0030 | 2833 | c.132 others(2852): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
STT3A_chr11_125587852_125628091 | 125589067 | A | AAGAACTA others(2826): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0014 | 1 | 324 | 0.0031 | 2833 | c.-38 others(2844): Show |
STT3A | ENSG00000134910.14 | transcript | ENST00000392708.9 | protein_coding | 3784 | chr11 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2826): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0251 | 1 | 38 | 0.0263 | 2833 | c.*19 others(2844): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2826): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0085 | 1 | 229 | 0.0044 | 2833 | c.105 others(2852): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
ZSCAN22_chr19_58321994_58347332 | 58323670 | T | TAAAGAAG others(2826): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0064 |
3 | 395 | 0.0076 | 2833 | c.-34 others(2844): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 3323 | chr19 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714957 | T | TACCACTG others(2827): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0236 | 1 | 267 | 0.0037 | 2834 | c.127 others(2851): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714957 | T | TACCACTG others(2827): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02451.hp2 others(8): Show |
a0001a0005 | a0001c0003a0001c0004a0001c0011others(1): Show | a0001c0003t0002a0001c0004t0002a0001c0004t0005others(2): Show | a0001c0003t0002g0168 a0001c0004t0002g0063 a0001c0004t0002g0066 others(8): Show |
11 | 277 | 0.0397 | 2834 | c.127 others(2851): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADGRE1_chr19_6882579_6945450 | 6916520 | G | GGGAAGTC others(2827): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 333 | 0.0030 | 2834 | c.142 others(2851): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2827): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 16 | 0.0625 | 2834 | c.164 others(2853): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2827): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 16 | 0.0625 | 2834 | c.164 others(2853): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2827): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0090 | 1 | 30 | 0.0333 | 2834 | c.445 others(2849): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EI24_chr11_125564477_125589684 | 125589067 | A | AAGAACTA others(2827): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0018 | 1 | 322 | 0.0031 | 2834 | c.*53 others(2845): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 4384 | chr11 | TogoVar |