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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1H_chr16_1148106_1226768 | 1191194 | C | CTGACCCA others(99): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0003 | a0003c0015 | a0003c0015t0004 | a0003c0015t0004g0060 | 1 | 338 | 0.0030 | 106 | c.300 others(123): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53922309 | T | TCCCAGGC others(99): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 364 | 0.0028 | 106 | c.424 others(123): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85212824 | T | TTCCTTCT others(99): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0117 | 1 | 146 | 0.0069 | 106 | c.61+ others(125): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CALD1_chr7_134774634_134975729 | 134929621 | C | CACACACA others(99): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03453.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0017 a0002c0002t0004g0243 |
2 | 262 | 0.0076 | 106 | c.218 others(121): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 4/14 | chr7 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12694151 | T | TATTATGC others(99): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 214 | 0.0047 | 106 | c.299 others(125): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135847892 | G | GAGGGGAG others(99): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0017 | 1 | 340 | 0.0029 | 106 | c.104 others(125): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 7/16 | chr9 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200816810 | A | ATATGTGT others(99): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 366 | 0.0027 | 106 | c.645 others(123): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 534231 | C | CGGGGCCG others(99): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01891.hp2 HG02109.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0350 a0001c0002t0002g0348 a0001c0004t0001g0347 others(1): Show |
4 | 410 | 0.0098 | 106 | c.-13 others(123): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88894289 | A | ACACACAT others(99): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 284 | 0.0035 | 106 | c.380 others(123): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88894336 | G | GCATACAT others(99): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02970.hp2 |
a0001 | a0001c0008 | a0001c0008t0014a0001c0008t0032 | a0001c0008t0014g0166 a0001c0008t0032g0145 |
2 | 284 | 0.0070 | 106 | c.380 others(123): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88967117 | A | ACCCCCGA others(99): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 284 | 0.0035 | 106 | c.151 others(123): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88967154 | A | ACCATGCC others(99): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 284 | 0.0035 | 106 | c.151 others(123): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88967154 | A | ACCATGCC others(99): Show |
intron_variant | MODIFIER | HG01943.hp1 NA19002.hp2 NA19007.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0194 a0001c0001t0001g0236 others(1): Show |
4 | 284 | 0.0141 | 106 | c.151 others(123): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CCDC141_chr2_178824757_179055137 | 179015558 | C | CTCATATA others(99): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00621.hp2 others(47): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0042 others(47): Show |
50 | 274 | 0.1825 | 106 | c.225 others(125): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158433265 | T | TATATATA others(99): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 a0001c0001t0002g0251 |
2 | 264 | 0.0076 | 106 | c.25+ others(123): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
CCDC15_chr11_124949202_125046489 | 125025067 | A | AATATATA others(99): Show |
intron_variant | MODIFIER | NA18961.hp2 NA18966.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 a0002c0002t0001g0104 |
2 | 350 | 0.0057 | 106 | c.241 others(127): Show |
CCDC15 | ENSG00000149548.15 | transcript | ENST00000344762.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CCDC63_chr12_110841987_110912535 | 110867060 | A | AGTAGGGG others(99): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01943.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0250 others(4): Show |
7 | 288 | 0.0243 | 106 | c.370 others(123): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC63_chr12_110841987_110912535 | 110867060 | A | AGTAGGGG others(99): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0012 | a0012c0023 | a0012c0023t0002 | a0012c0023t0002g0189 | 1 | 288 | 0.0035 | 106 | c.370 others(123): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCL17_chr16_57399767_57421063 | 57403234 | T | TATATATA others(99): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 388 | 0.0103 | 106 | c.-16 others(117): Show |
CCL17 | ENSG00000102970.11 | transcript | ENST00000219244.9 | protein_coding | 1532 | chr16 | TogoVar | |||||||
CCL17_chr16_57399767_57421063 | 57403262 | T | TATATATA others(99): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0039 |
6 | 388 | 0.0155 | 106 | c.-16 others(117): Show |
CCL17 | ENSG00000102970.11 | transcript | ENST00000219244.9 | protein_coding | 1504 | chr16 | TogoVar | |||||||
CCL17_chr16_57399767_57421063 | 57403290 | T | TATATATA others(99): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 NA19054.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0026 |
3 | 388 | 0.0077 | 106 | c.-16 others(117): Show |
CCL17 | ENSG00000102970.11 | transcript | ENST00000219244.9 | protein_coding | 1476 | chr16 | TogoVar | |||||||
CCSER2_chr10_84323589_84523517 | 84501834 | A | AATATATA others(99): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 370 | 0.0027 | 106 | c.232 others(127): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61390473 | A | AGTCATAG others(99): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 106 | 0.0094 | 106 | c.169 others(127): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61390665 | A | AACCCCAA others(99): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0027 | 1 | 106 | 0.0094 | 106 | c.169 others(127): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61390665 | A | AACCCCAA others(99): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01106.hp2 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(25): Show | a0001c0001t0001g0049 a0001c0001t0002g0078 a0001c0001t0009g0019 others(26): Show |
29 | 106 | 0.2736 | 106 | c.169 others(127): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61777747 | C | CCCACATG others(99): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(33): Show | a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0002g0059 others(38): Show |
41 | 106 | 0.3868 | 106 | c.576 others(123): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61777789 | T | TGCGCACA others(99): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0005 | a0002c0005t0030 | a0002c0005t0030g0103 | 1 | 106 | 0.0094 | 106 | c.576 others(123): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61777789 | T | TGCGCACA others(99): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0003t0037 | a0001c0001t0009g0019 a0001c0003t0037g0023 |
2 | 106 | 0.0189 | 106 | c.576 others(123): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61777789 | T | TGCGCACA others(99): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01123.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0048others(7): Show | a0001c0001t0001g0032 a0001c0001t0002g0088 a0001c0001t0048g0085 others(7): Show |
10 | 106 | 0.0943 | 106 | c.576 others(123): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61893251 | T | TGGGTGGG others(99): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(103): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(74): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0030 others(103): Show |
106 | 106 | 1.0000 | 106 | c.105 others(125): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591689 | A | ATGATGGT others(99): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02615.hp1 others(5): Show |
a0001a0004 | a0001c0015a0004c0010 | a0001c0015t0001a0004c0010t0001 | a0001c0015t0001g0014 a0001c0015t0001g0137 a0004c0010t0001g0016 others(2): Show |
8 | 344 | 0.0233 | 106 | c.373 others(123): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4895265 | A | ACATGTGT others(99): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0161 | 1 | 250 | 0.0040 | 106 | c.691 others(123): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71728231 | C | CTCTCTCT others(99): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0008 | a0002c0008t0008 | a0002c0008t0008g0077 | 1 | 320 | 0.0031 | 106 | c.204 others(125): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881816 | C | CTATATAG others(99): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG03195.hp2 |
a0006 | a0006c0009 | a0006c0009t0011 | a0006c0009t0011g0061 a0006c0009t0011g0283 |
2 | 440 | 0.0046 | 106 | c.*13 others(117): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 462 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881946 | A | ATAGATAC others(99): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG02615.hp2 |
a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0007 | 2 | 440 | 0.0046 | 106 | c.*12 others(117): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 332 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882004 | A | ATAGATAC others(99): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0031 | 1 | 440 | 0.0023 | 106 | c.*11 others(117): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 274 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882026 | A | ATAGATAC others(99): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0007 | 1 | 440 | 0.0023 | 106 | c.*11 others(117): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 252 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882089 | T | TATATAGA others(99): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0029 | 1 | 440 | 0.0023 | 106 | c.*10 others(117): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 189 | chr13 | TogoVar | |||||||
CENPQ_chr6_49458370_49498107 | 49487172 | A | AAAAAAAA others(99): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01952.hp2 HG03942.hp2 others(3): Show |
a0002a0004a0006 | a0002c0002a0004c0004a0006c0006 | a0002c0002t0002a0004c0004t0004a0006c0006t0004 | a0002c0002t0002g0190 a0002c0002t0002g0201 a0002c0002t0002g0214 others(3): Show |
6 | 362 | 0.0166 | 106 | c.478 others(123): Show |
CENPQ | ENSG00000031691.7 | transcript | ENST00000335783.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649965 | G | GACTGTGA others(99): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0018 |
2 | 91 | 0.0220 | 106 | c.177 others(125): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1924223 | G | GACCACCC others(99): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0022 | a0022c0078 | a0022c0078t0001 | a0022c0078t0001g0093 | 1 | 278 | 0.0036 | 106 | c.423 others(123): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 34/38 | chr1 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753058 | A | ATTATGTA others(99): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0148 | 1 | 354 | 0.0028 | 106 | c.905 others(121): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85911152 | T | TATGTATA others(99): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 245 | 0.0041 | 106 | c.124 others(123): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136867849 | T | TATATATA others(99): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0172 | 1 | 320 | 0.0031 | 106 | c.-14 others(117): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 802 | chr7 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136867853 | T | TATATATA others(99): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0180 a0001c0001t0003g0242 |
2 | 320 | 0.0063 | 106 | c.-14 others(117): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 798 | chr7 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136867855 | T | TATATATT others(99): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0089 | 1 | 320 | 0.0031 | 106 | c.-14 others(117): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 796 | chr7 | TogoVar | |||||||
CHST5_chr16_75523530_75541108 | 75526190 | T | TGTGCATG others(99): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0024 | 1 | 394 | 0.0025 | 106 | c.*29 others(117): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 2339 | chr16 | TogoVar | |||||||
CHST5_chr16_75523530_75541108 | 75526200 | A | AGTGTGCA others(99): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01256.hp1 HG01258.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003 a0002c0002t0003g0059 |
7 | 394 | 0.0178 | 106 | c.*29 others(117): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 2329 | chr16 | TogoVar | |||||||
CLEC10A_chr17_7069537_7085251 | 7077257 | C | CCCCATCA others(99): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02723.hp2 HG02922.hp2 |
a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0049 a0003c0007t0002g0122 |
3 | 458 | 0.0066 | 106 | c.185 others(121): Show |
CLEC10A | ENSG00000132514.14 | transcript | ENST00000416562.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CLEC2B_chr12_9847369_9874354 | 9853083 | A | AAGAAAGA others(99): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0101 | 1 | 454 | 0.0022 | 106 | c.*21 others(115): Show |
CLEC2B | ENSG00000110852.5 | transcript | ENST00000228438.3 | protein_coding | 5/5 | 216 | chr12 | TogoVar |