regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHST11_chr12_104451948_104767014 | 104544138 | A | AAAAAGAA others(6): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03471.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0011 | a0001c0001t0006g0087a0001c0001t0008g0232a0001c0001t0011g0203 | 3 | 240 | 0.0125 | 13 | c.119 others(32): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104544138 | A | AGAAAGAA others(6): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0153 | 1 | 240 | 0.0042 | 13 | c.119 others(32): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104544769 | T | TCCCCCCC others(6): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0063a0001c0001t0011g0097 | 2 | 240 | 0.0083 | 13 | c.119 others(32): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104544769 | T | TCCCCCCC others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01167.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0007a0001c0001t0001g0037a0001c0001t0001g0039others(25): Show | 28 | 240 | 0.1167 | 13 | c.119 others(32): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104637302 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0194 | 1 | 240 | 0.0042 | 13 | c.204 others(32): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104686232 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG02155.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0033a0001c0001t0001g0088others(11): Show | 14 | 240 | 0.0583 | 13 | c.205 others(32): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104703652 | C | CAGCTCAG others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0042 | a0001c0001t0039g0092a0001c0001t0042g0194 | 2 | 240 | 0.0083 | 13 | c.205 others(32): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104750428 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01433.hp2 HG02074.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0112a0001c0001t0001g0126a0001c0001t0002g0231others(8): Show | 11 | 240 | 0.0458 | 13 | c.205 others(30): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104756532 | G | GGGTGTGT others(6): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0097 | 1 | 240 | 0.0042 | 13 | c.205 others(28): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104756562 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 240 | 0.0042 | 13 | c.205 others(28): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2425691 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18947.hp1 |
a0007 | a0007c0008 | a0007c0008t0286a0007c0008t0288 | a0007c0008t0286g0270a0007c0008t0288g0269 | 2 | 344 | 0.0058 | 13 | c.-77 others(30): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2432141 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0276 | 1 | 344 | 0.0029 | 13 | c.-77 others(28): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2434579 | T | TAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0116 | 1 | 344 | 0.0029 | 13 | c.*72 others(22): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 733 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CHST12_chr7_2398611_2453484 | 2452665 | T | TCCTCCCT others(6): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02559.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0111a0001c0001t0182a0001c0001t0183others(3): Show | a0001c0001t0111g0178a0001c0001t0182g0163a0001c0001t0183g0162others(3): Show | 6 | 344 | 0.0174 | 13 | c.*18 others(26): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4182 | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2452693 | C | CTCTCTCC others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(235): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(204): Show | a0001c0001t0005g0002a0001c0001t0005g0128a0001c0001t0005g0137others(230): Show | 238 | 344 | 0.6919 | 13 | c.*18 others(26): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4210 | chr7 | TogoVar | ||||||
CHST15_chr10_124002668_124098598 | 124045112 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02132.hp1 HG02135.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0037a0001c0001t0003g0040a0001c0001t0003g0125others(1): Show | 4 | 392 | 0.0102 | 13 | c.547 others(28): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | ||||||
CHST3_chr10_71959395_72018558 | 72017812 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02572.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0015a0002c0002t0017 | a0001c0001t0003g0264a0001c0001t0015g0164a0002c0002t0017g0109 | 3 | 372 | 0.0081 | 13 | c.*93 others(24): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 4255 | chr10 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75491190 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0199 | 1 | 371 | 0.0027 | 13 | c.-92 others(30): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75491190 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0058a0001c0001t0015g0059 | 2 | 371 | 0.0054 | 13 | c.-92 others(30): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75491190 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02683.hp2 HG02738.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0001t0026a0001c0005t0030 | a0001c0001t0007g0052a0001c0001t0026g0051a0001c0005t0030g0020 | 3 | 371 | 0.0081 | 13 | c.-92 others(30): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75491190 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0019 | 1 | 371 | 0.0027 | 13 | c.-92 others(30): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75496281 | G | GGAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01891.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(6): Show | a0001c0001t0002g0287a0001c0001t0005g0298a0001c0001t0011g0301others(7): Show | 10 | 371 | 0.0270 | 13 | c.-14 others(24): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 841 | chr16 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33695821 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0013 | 1 | 254 | 0.0039 | 13 | c.130 others(30): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757461 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 254 | 0.0039 | 13 | c.131 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757469 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 254 | 0.0039 | 13 | c.131 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757477 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 254 | 0.0039 | 13 | c.131 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757522 | G | GGAAGGAG others(6): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 254 | 0.0039 | 13 | c.131 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27141591 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0212 | 1 | 262 | 0.0038 | 13 | c.121 others(30): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101239714 | T | TACGTTTC others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00609.hp1 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0008a0001c0001t0017a0001c0001t0018others(37): Show | a0001c0001t0008g0078a0001c0001t0017g0369a0001c0001t0017g0371others(110): Show | 117 | 422 | 0.2773 | 13 | c.321 others(30): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101239714 | T | TATATTTC others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003a0001c0001t0008g0222 | 4 | 422 | 0.0095 | 13 | c.321 others(30): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130024152 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02896.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0006a0003c0004t0007 | a0001c0001t0006g0259a0003c0004t0007g0257a0003c0004t0007g0258 | 3 | 276 | 0.0109 | 13 | c.108 others(36): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130178251 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18747.hp1 NA19005.hp1 others(1): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0004 | a0001c0002t0001g0045a0001c0002t0001g0051a0003c0004t0004g0235others(1): Show | 4 | 276 | 0.0145 | 13 | c.108 others(32): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130178253 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0078 | 1 | 276 | 0.0036 | 13 | c.108 others(32): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130178253 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0025 | 1 | 276 | 0.0036 | 13 | c.108 others(32): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHURC1_chr14_64909455_64940368 | 64923273 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG01192.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0003g0077a0001c0001t0003g0097a0001c0001t0003g0208others(15): Show | 26 | 392 | 0.0663 | 13 | c.40- others(26): Show |
CHURC1 | ENSG00000258289.10 | transcript | ENST00000549115.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CIB2_chr15_78099606_78136445 | 78117246 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(51): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0009others(34): Show | 54 | 390 | 0.1385 | 13 | c.87- others(28): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26601231 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0069 | 1 | 344 | 0.0029 | 13 | c.187 others(30): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIBAR2_chr16_85093358_85117472 | 85114116 | G | GTCTCCTC others(6): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 436 | 0.0023 | 13 | c.-17 others(24): Show |
CIBAR2 | ENSG00000153789.14 | transcript | ENST00000539556.6 | protein_coding | 1645 | chr16 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12270688 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0183others(1): Show | 4 | 448 | 0.0089 | 13 | c.331 others(30): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CIDEA_chr18_12249361_12282595 | 12278657 | A | AGAGAAAT others(6): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0352 | 1 | 448 | 0.0022 | 13 | c.*13 others(24): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 1063 | chr18 | TogoVar | ||||||
CIITA_chr16_10872202_10941394 | 10893804 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01123.hp1 HG04204.hp2 NA19075.hp1 |
a0001a0003a0006 | a0001c0001a0003c0055a0006c0008 | a0001c0001t0012a0003c0055t0003a0006c0008t0044 | a0001c0001t0012g0348a0003c0055t0003g0153a0006c0008t0044g0314 | 3 | 392 | 0.0077 | 13 | c.53- others(28): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CIP2A_chr3_108544864_108594438 | 108553894 | T | TACAAAAA others(6): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0289 | 1 | 372 | 0.0027 | 13 | c.232 others(30): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 18/20 | chr3 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174356522 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 348 | 0.0029 | 13 | c.485 others(30): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174356526 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(63): Show |
a0001a0006a0007 | a0001c0001a0006c0006a0007c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(57): Show | 66 | 348 | 0.1897 | 13 | c.485 others(30): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CIROP_chr14_23094062_23109989 | 23094138 | A | AAACACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 450 | 0.0022 | 13 | c.*51 others(24): Show |
CIROP | ENSG00000283654.3 | transcript | ENST00000637218.2 | protein_coding | 4923 | chr14 | TogoVar | ||||||
CISD1_chr10_58264162_58294586 | 58271043 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045a0001c0001t0003g0120a0001c0001t0003g0121others(4): Show | 8 | 386 | 0.0207 | 13 | c.31+ others(28): Show |
CISD1 | ENSG00000122873.12 | transcript | ENST00000333926.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CISD2_chr4_102863992_102897807 | 102868072 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0122 | 1 | 354 | 0.0028 | 13 | c.-10 others(24): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 919 | chr4 | TogoVar | ||||||
CISD2_chr4_102863992_102897807 | 102890840 | T | TAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(85): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0003g0002a0001c0001t0003g0004a0001c0001t0003g0011others(41): Show | 88 | 354 | 0.2486 | 13 | c.*34 others(24): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 3/3 | 3424 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
CIT_chr12_119680791_119882320 | 119717838 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 236 | 0.0042 | 13 | c.416 others(30): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119731840 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02818.hp2 HG02976.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0050a0002c0004t0007g0052a0002c0004t0007g0054others(1): Show | 4 | 236 | 0.0170 | 13 | c.335 others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | TogoVar |