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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GREM2_chr1_240484573_240617155 | 240536567 | G | GGAGTTTA others(197): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0191 a0001c0001t0002g0229 a0001c0001t0003g0273 |
3 | 109 | 0.0275 | 204 | c.-1- others(221): Show |
GREM2 | ENSG00000180875.5 | transcript | ENST00000318160.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
GREM2_chr1_240484573_240617155 | 240536640 | C | CGGGGGCT others(197): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0150 | 1 | 337 | 0.0030 | 204 | c.-1- others(221): Show |
GREM2 | ENSG00000180875.5 | transcript | ENST00000318160.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346059 | G | GGAGGACC others(197): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0271 | 1 | 283 | 0.0035 | 204 | c.466 others(221): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653215 | C | CCTCCCCC others(197): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0026 | a0026c0026 | a0026c0026t0002 | a0026c0026t0002g0100 | 1 | 284 | 0.0035 | 204 | c.427 others(221): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653215 | C | CCTCCCCC others(197): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0001 | 1 | 284 | 0.0035 | 204 | c.427 others(221): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HELZ2_chr20_63553086_63579239 | 63571297 | G | GGTGGGCT others(197): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0268 | 1 | 388 | 0.0026 | 204 | c.279 others(219): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63571398 | C | CGGTGGGC others(197): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0031 | a0031c0039 | a0031c0039t0094 | a0031c0039t0094g0078 | 1 | 218 | 0.0046 | 204 | c.279 others(219): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63571806 | C | CGGTGGGC others(197): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA18906.hp1 |
a0030a0076 | a0030c0018a0076c0087 | a0030c0018t0010a0076c0087t0014 | a0030c0018t0010g0027 a0076c0087t0014g0236 |
3 | 95 | 0.0316 | 204 | c.278 others(219): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
HMGN1_chr21_39337315_39354088 | 39337372 | A | ATATATAT others(197): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0073 | 1 | 411 | 0.0024 | 204 | c.*57 others(215): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 4942 | chr21 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399223 | C | CCACCACC others(197): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0167 |
2 | 296 | 0.0068 | 204 | c.-25 others(221): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399408 | A | ATCACCAC others(197): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0253 | 1 | 302 | 0.0033 | 204 | c.-25 others(221): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
HSPA12A_chr10_116666192_116747566 | 116732328 | C | CAAAGAAA others(197): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 46 | 0.0217 | 204 | c.40+ others(221): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
IFITM5_chr11_293200_304526 | 294512 | A | ACCCCAGG others(197): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 175 | 0.0057 | 204 | c.*39 others(215): Show |
IFITM5 | ENSG00000206013.2 | transcript | ENST00000382614.2 | protein_coding | 3687 | chr11 | TogoVar | |||||||
IL17RA_chr22_17080000_17120693 | 17104286 | T | TGGAGTGG others(197): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 383 | 0.0026 | 204 | c.847 others(219): Show |
IL17RA | ENSG00000177663.15 | transcript | ENST00000319363.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
IL18R1_chr2_102350796_102403776 | 102352893 | A | AATATTAT others(197): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 2 | 128 | 0.0156 | 204 | c.-35 others(215): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2902 | chr2 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352893 | A | AATATTAT others(197): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(73): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0004 | a0001c0001t0001a0001c0001t0009a0001c0011t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(32): Show |
76 | 202 | 0.3762 | 204 | c.-35 others(215): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2902 | chr2 | TogoVar | |||||||
IL1RAPL2_chrX_104561199_105772829 | 105307445 | G | GTATATAT others(197): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00642.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 others(33): Show |
36 | 88 | 0.4091 | 204 | c.697 others(223): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RL1_chr2_102306563_102357037 | 102352893 | A | AATATTAT others(197): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 123 | 0.0163 | 204 | c.*97 others(213): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 857 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352893 | A | AATATTAT others(197): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(67): Show |
a0001a0014 | a0001c0001a0014c0015 | a0001c0001t0001a0014c0015t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0017 others(35): Show |
70 | 191 | 0.3665 | 204 | c.*97 others(213): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 857 | chr2 | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233137886 | A | ACACATAT others(197): Show |
intron_variant | MODIFIER | HG01978.hp2 HG03486.hp2 |
a0002 | a0002c0007 | a0002c0007t0003a0002c0007t0004 | a0002c0007t0003g0214 a0002c0007t0004g0016 |
2 | 260 | 0.0077 | 204 | c.666 others(221): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 5/26 | chr2 | TogoVar | |||||||
IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAAA others(197): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0172 | 1 | 233 | 0.0043 | 204 | c.127 others(223): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
IRAK2_chr3_10159919_10248745 | 10224731 | T | TCCATCCA others(197): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 269 | 0.0037 | 204 | c.121 others(223): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086177 | T | TATATATT others(197): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0085 | 1 | 392 | 0.0026 | 204 | c.292 others(223): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086211 | T | TATATATT others(197): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0248 | 1 | 377 | 0.0027 | 204 | c.292 others(223): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086211 | T | TATATATT others(197): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG02083.hp2 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002 a0002c0002t0003g0056 a0002c0002t0003g0084 others(8): Show |
13 | 389 | 0.0334 | 204 | c.292 others(223): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB2_chr21_44880953_44925899 | 44918939 | G | ATCCCCTC others(197): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0246 | 1 | 193 | 0.0052 | 204 | c.-4+ others(219): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 1/15 | chr21 | TogoVar | |||||||
IZUMO3_chr9_24537952_24550897 | 24546436 | C | CTCCTTTT others(197): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 420 | 0.0024 | 204 | c.-78 others(213): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 540 | chr9 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147764920 | A | AAGAAAGA others(197): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0177 | 1 | 201 | 0.0050 | 204 | c.-14 others(225): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132161340 | C | CCTCTTCC others(197): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0137 | 1 | 145 | 0.0069 | 204 | c.222 others(223): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28110504 | A | AAAGGAAA others(197): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 153 | 0.0065 | 204 | c.115 others(223): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
KATNIP_chr16_27545144_27785344 | 27713818 | A | ATTATATA others(197): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0011 | a0011c0013 | a0011c0013t0003 | a0011c0013t0003g0103 | 1 | 139 | 0.0072 | 204 | c.160 others(223): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758206 | A | ATATCCAA others(197): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 205 | 0.0049 | 204 | c.-67 others(223): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442897 | C | CATCACCA others(197): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00558.hp1 others(54): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0008a0001c0009others(4): Show | a0001c0003t0003a0001c0003t0009a0001c0003t0012others(22): Show | a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0272 others(54): Show |
57 | 289 | 0.1972 | 204 | c.691 others(219): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KDM4B_chr19_4964113_5158598 | 5131538 | A | AGGGGCAG others(197): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03516.hp1 |
a0006a0013 | a0006c0021a0013c0034 | a0006c0021t0014a0013c0034t0012 | a0006c0021t0014g0030 a0013c0034t0012g0160 |
2 | 238 | 0.0084 | 204 | c.178 others(221): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5131538 | A | AGGGGCAG others(197): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0006 | a0006c0022 | a0006c0022t0002 | a0006c0022t0002g0177 | 1 | 237 | 0.0042 | 204 | c.178 others(221): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5131563 | A | AGGCAGGG others(197): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 162 | 0.0062 | 204 | c.178 others(221): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KHDRBS3_chr8_135452456_135652610 | 135599908 | A | AGCAGCAG others(197): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 175 | 0.0057 | 204 | c.808 others(221): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429132 | A | ACATATAT others(197): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 | 1 | 367 | 0.0027 | 204 | c.-44 others(215): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4322 | chr19 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45229292 | C | CCAAACAC others(197): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 a0001c0001t0001g0318 |
2 | 234 | 0.0085 | 204 | c.64+ others(221): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45229320 | T | TCCCCACC others(197): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0142 | 1 | 52 | 0.0192 | 204 | c.64+ others(221): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45229320 | T | TCCCCACC others(197): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG02027.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0023others(2): Show | a0001c0001t0002g0272 a0001c0001t0007g0174 a0001c0001t0023g0173 others(2): Show |
5 | 56 | 0.0893 | 204 | c.64+ others(221): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45229322 | C | CCCACCAC others(197): Show |
intron_variant | MODIFIER | HG01071.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0341 a0001c0001t0012g0229 |
2 | 279 | 0.0072 | 204 | c.64+ others(221): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525918 | T | TTTCTTCT others(197): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 224 | 0.0045 | 204 | c.-25 others(223): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525918 | T | TTTCTTCT others(197): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0029 | 1 | 224 | 0.0045 | 204 | c.-25 others(223): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525918 | T | TTTCTTCT others(197): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0018 |
2 | 225 | 0.0089 | 204 | c.-25 others(223): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525918 | T | TTTCTTCT others(197): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0076 | 1 | 224 | 0.0045 | 204 | c.-25 others(223): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525918 | T | TTTCTTCT others(197): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02735.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0032a0001c0001t0037 | a0001c0001t0005g0115 a0001c0001t0032g0124 a0001c0001t0037g0045 |
3 | 226 | 0.0133 | 204 | c.-25 others(223): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525964 | T | TTCTCCTT others(197): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0231 a0001c0001t0002g0221 |
2 | 223 | 0.0090 | 204 | c.-25 others(223): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(197): Show |
intron_variant | MODIFIER | NA18965.hp2 NA18970.hp1 NA19000.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 others(2): Show |
5 | 177 | 0.0282 | 204 | c.-25 others(223): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(197): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18946.hp2 NA18953.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004a0001c0002t0049 | a0001c0001t0002g0173 a0001c0002t0004g0144 a0001c0002t0004g0167 others(1): Show |
4 | 176 | 0.0227 | 204 | c.-25 others(223): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar |