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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IL17RA_chr22_17080000_17120693 | 17094667 | C | CTATATAT others(43): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0198 | 1 | 333 | 0.0030 | 50 | c.139 others(67): Show |
IL17RA | ENSG00000177663.15 | transcript | ENST00000319363.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
IL17RA_chr22_17080000_17120693 | 17094691 | C | CTCTCTCT others(43): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 87 | 0.0115 | 50 | c.139 others(67): Show |
IL17RA | ENSG00000177663.15 | transcript | ENST00000319363.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
IL19_chr1_206765773_206847981 | 206782020 | T | TGTTATAT others(43): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 320 | 0.0031 | 50 | c.-14 others(71): Show |
IL19 | ENSG00000142224.18 | transcript | ENST00000659997.3 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
IL1RAPL1_chrX_28582446_29961718 | 29333930 | T | TCCCCCCA others(43): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00621.hp1 others(54): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0059 a0001c0001t0001g0062 others(54): Show |
57 | 125 | 0.4560 | 50 | c.362 others(69): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29333951 | C | CGGGGCGG others(43): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0068 others(6): Show |
9 | 134 | 0.0672 | 50 | c.362 others(69): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 105307531 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0123 | 1 | 138 | 0.0072 | 50 | c.697 others(69): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RL1_chr2_102306563_102357037 | 102353054 | A | ATATAATA others(43): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0121 | 1 | 345 | 0.0029 | 50 | c.*11 others(61): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 1018 | chr2 | TogoVar | |||||||
IL21R_chr16_27397174_27457042 | 27440248 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0235 | 1 | 105 | 0.0095 | 50 | c.352 others(67): Show |
IL21R | ENSG00000103522.17 | transcript | ENST00000337929.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL31RA_chr5_55846357_55927850 | 55897000 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02723.hp2 |
a0003 | a0003c0004 | a0003c0004t0030a0003c0004t0060 | a0003c0004t0030g0310 a0003c0004t0060g0303 |
2 | 193 | 0.0104 | 50 | c.852 others(65): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02698.hp2 NA18981.hp1 others(1): Show |
a0001a0002a0003 | a0001c0005a0002c0002a0002c0006others(1): Show | a0001c0005t0018a0002c0002t0001a0002c0006t0024others(1): Show | a0001c0005t0018g0143 a0002c0002t0001g0075 a0002c0006t0024g0232 others(1): Show |
4 | 18 | 0.2222 | 50 | c.852 others(65): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03453.hp1 NA18945.hp1 |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0004 | a0001c0003t0037a0002c0002t0024a0003c0004t0017 | a0001c0003t0037g0146 a0002c0002t0024g0023 a0003c0004t0017g0007 |
3 | 17 | 0.1765 | 50 | c.852 others(65): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG01261.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0007a0002c0002others(1): Show | a0001c0003t0007a0001c0007t0004a0002c0002t0016others(1): Show | a0001c0003t0007g0020 a0001c0007t0004g0226 a0002c0002t0016g0049 others(1): Show |
4 | 18 | 0.2222 | 50 | c.852 others(65): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL6R_chr1_154400343_154474450 | 154447502 | C | CACACACA others(43): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02257.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0010a0003c0004t0018others(1): Show | a0003c0004t0004g0218 a0003c0004t0004g0256 a0003c0004t0010g0247 others(3): Show |
6 | 327 | 0.0183 | 50 | c.950 others(65): Show |
IL6R | ENSG00000160712.13 | transcript | ENST00000368485.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IMMP2L_chr7_110657644_111567492 | 111522926 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0064 a0001c0001t0015g0071 |
2 | 45 | 0.0444 | 50 | c.-2- others(65): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
IMMP2L_chr7_110657644_111567492 | 111522926 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0069 | 1 | 44 | 0.0227 | 50 | c.-2- others(65): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
INAVA_chr1_200889900_200920742 | 200907578 | G | GAGCCTGG others(43): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0065 | 1 | 422 | 0.0024 | 50 | c.521 others(65): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132772048 | A | ACACTCAG others(43): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 202 | 0.0050 | 50 | c.978 others(67): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132772372 | A | ACACTCAG others(43): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 197 | 0.0051 | 50 | c.978 others(67): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0304 | 1 | 72 | 0.0139 | 50 | c.281 others(67): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0302 | 1 | 72 | 0.0139 | 50 | c.281 others(67): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INSC_chr11_15109923_15252208 | 15113119 | C | CTCTCTTT others(43): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 NA19030.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0009 | a0001c0002t0002a0001c0003t0003a0001c0009t0010 | a0001c0002t0002g0121 a0001c0003t0003g0254 a0001c0009t0010g0258 others(1): Show |
4 | 211 | 0.0190 | 50 | c.-19 others(61): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 1803 | chr11 | TogoVar | |||||||
INSC_chr11_15109923_15252208 | 15113143 | T | TTCTTTCT others(43): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0199 | 1 | 146 | 0.0068 | 50 | c.-19 others(61): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 1779 | chr11 | TogoVar | |||||||
INSC_chr11_15109923_15252208 | 15113145 | C | CTTTCTTT others(43): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 260 | 0.0038 | 50 | c.-19 others(61): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 1777 | chr11 | TogoVar | |||||||
INSC_chr11_15109923_15252208 | 15113145 | C | CTTTCTTT others(43): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0251 | 1 | 260 | 0.0038 | 50 | c.-19 others(61): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 1777 | chr11 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7153129 | C | CCACACAC others(43): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02257.hp2 others(8): Show |
a0001 | a0001c0006a0001c0012a0001c0018others(4): Show | a0001c0006t0065a0001c0012t0076a0001c0012t0077others(8): Show | a0001c0006t0065g0008 a0001c0012t0076g0087 a0001c0012t0077g0088 others(8): Show |
11 | 227 | 0.0485 | 50 | c.203 others(67): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 9/21 | chr19 | TogoVar | |||||||
IPO11_chr5_62407763_62633582 | 62435210 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 180 | 0.0056 | 50 | c.-6- others(65): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IPO9_chr1_201824157_201889291 | 201859180 | A | AATAAATA others(43): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0344 | 1 | 10 | 0.1000 | 50 | c.146 others(67): Show |
IPO9 | ENSG00000198700.10 | transcript | ENST00000361565.9 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2577380 | C | CACGCATT others(43): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG02615.hp2 others(1): Show |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0322 a0001c0011t0001g0323 a0001c0011t0001g0357 others(1): Show |
4 | 414 | 0.0097 | 50 | c.466 others(65): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | chr7 | TogoVar | |||||||
IQCG_chr3_197884077_197964991 | 197887731 | T | TGGGGCTG others(43): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033 | 1 | 218 | 0.0046 | 50 | c.*18 others(61): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 1345 | chr3 | TogoVar | |||||||
IQCK_chr16_19713271_19863467 | 19798421 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0004 | a0003c0004t0013 | a0003c0004t0013g0240 | 1 | 161 | 0.0062 | 50 | c.690 others(67): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IQGAP1_chr15_90383242_90507239 | 90422664 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0029 | 1 | 327 | 0.0031 | 50 | c.156 others(67): Show |
IQGAP1 | ENSG00000140575.13 | transcript | ENST00000268182.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76429582 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0009 | a0009c0014 | a0009c0014t0009 | a0009c0014t0009g0214 | 1 | 196 | 0.0051 | 50 | c.46+ others(67): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 177126 | C | CCAGGCAG others(43): Show |
3_prime_UTR_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0004 | a0001c0004t0032 | a0001c0004t0032g0030 | 1 | 267 | 0.0037 | 50 | c.*21 others(61): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 14/14 | 2182 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 177165 | A | ACTTACCA others(43): Show |
3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG01884.hp2 HG02896.hp2 others(3): Show |
a0002a0003 | a0002c0001a0002c0015a0003c0010others(1): Show | a0002c0001t0020a0002c0015t0029a0003c0010t0016others(2): Show | a0002c0001t0020g0071 a0002c0015t0029g0209 a0003c0010t0016g0250 others(3): Show |
6 | 260 | 0.0231 | 50 | c.*21 others(61): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 14/14 | 2201 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(43): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 a0001c0001t0006g0009 a0001c0001t0006g0116 others(1): Show |
4 | 264 | 0.0152 | 50 | c.-39 others(61): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(43): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0330 | 1 | 261 | 0.0038 | 50 | c.-39 others(61): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IRX6_chr16_55319203_55335756 | 55325532 | A | AAGGAAGG others(43): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0014 | 1 | 432 | 0.0023 | 50 | c.45+ others(63): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
IRX6_chr16_55319203_55335756 | 55325567 | A | AAGAAAGA others(43): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 361 | 0.0028 | 50 | c.45+ others(63): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50063082 | G | GCCTTGGC others(43): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02976.hp2 HG03209.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0003t0005 | a0001c0001t0010g0032 a0001c0003t0005g0006 a0001c0003t0005g0033 others(4): Show |
8 | 400 | 0.0200 | 50 | c.207 others(65): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 1/25 | chr17 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31302396 | T | TTTCTTTC others(43): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0023 a0003c0004t0005g0089 |
2 | 221 | 0.0090 | 50 | c.170 others(69): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31302396 | T | TTTCTTTC others(43): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0061 | 1 | 220 | 0.0045 | 50 | c.170 others(69): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186605755 | T | TTTATATG others(43): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(167): Show |
179 | 300 | 0.5967 | 50 | c.316 others(67): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 2/29 | chr2 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7566770 | G | GGAGAAGG others(43): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0204 | 1 | 312 | 0.0032 | 50 | c.215 others(67): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624857 | G | GTATATAC others(43): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0192 | 1 | 52 | 0.0192 | 50 | c.653 others(67): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26516260 | A | AGGAAAGG others(43): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0060 | 1 | 139 | 0.0072 | 50 | c.507 others(71): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26516270 | A | AGGAAAGG others(43): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 116 | 0.0086 | 50 | c.507 others(71): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26516285 | G | GGGAAAGG others(43): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0013 | a0001c0013t0022 | a0001c0013t0022g0131 | 1 | 41 | 0.0244 | 50 | c.507 others(71): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26516295 | A | AGGAAAGG others(43): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01256.hp2 HG01346.hp1 others(1): Show |
a0001 | a0001c0002a0001c0007a0001c0018others(1): Show | a0001c0002t0017a0001c0007t0001a0001c0018t0006others(1): Show | a0001c0002t0017g0077 a0001c0007t0001g0064 a0001c0018t0006g0084 others(1): Show |
4 | 121 | 0.0331 | 50 | c.507 others(71): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26516300 | A | AGGAAAGG others(43): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG02735.hp2 |
a0001 | a0001c0001a0001c0021a0001c0025 | a0001c0001t0002a0001c0021t0002a0001c0025t0051 | a0001c0001t0002g0034 a0001c0021t0002g0050 a0001c0025t0051g0133 |
3 | 126 | 0.0238 | 50 | c.507 others(71): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26565903 | G | GGAGGGGA others(43): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01071.hp2 |
a0001 | a0001c0002a0001c0026 | a0001c0002t0001a0001c0002t0029a0001c0026t0053 | a0001c0002t0001g0078 a0001c0002t0029g0079 a0001c0026t0053g0142 |
3 | 88 | 0.0341 | 50 | c.463 others(69): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar |