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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(221): Show |
upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 364 | 0.0028 | 228 | c.-20 others(237): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(221): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 364 | 0.0028 | 228 | c.-20 others(237): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(221): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 364 | 0.0028 | 228 | c.-20 others(237): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GAK_chr4_844277_937316 | 926951 | G | GCAACCCC others(221): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017 a0001c0002t0001g0018 |
2 | 390 | 0.0051 | 228 | c.145 others(245): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113816042 | G | GCAGCGTG others(221): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0008 | 1 | 143 | 0.0070 | 228 | c.*48 others(239): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4506 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113816090 | G | GTTTCTTT others(221): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0007 | a0007c0014 | a0007c0014t0003 | a0007c0014t0003g0002 | 1 | 143 | 0.0070 | 228 | c.*47 others(239): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4458 | chr13 | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 66683385 | T | TATATATG others(221): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 234 | 0.0043 | 228 | c.143 others(245): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66683399 | T | TATATATG others(221): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 234 | 0.0043 | 228 | c.143 others(245): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218336 | C | CAACACCA others(221): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 HG02683.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 4 | 106 | 0.0377 | 228 | c.*28 others(239): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1167 | chr8 | TogoVar | |||||||
GPR157_chr1_9095305_9134102 | 9116282 | A | ATTATATT others(221): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0004 | a0004c0004 | a0004c0004t0023 | a0004c0004t0023g0027 | 1 | 404 | 0.0025 | 228 | c.384 others(245): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GPR161_chr1_168074542_168141930 | 168119277 | T | TATACATA others(221): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0169 | 1 | 340 | 0.0029 | 228 | c.-44 others(247): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
GPR161_chr1_168074542_168141930 | 168119277 | T | TATACATA others(221): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0170 | 1 | 340 | 0.0029 | 228 | c.-44 others(247): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53074265 | C | CACATATA others(221): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0033 | 1 | 208 | 0.0048 | 228 | c.-97 others(245): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119313009 | C | CTGTGGTG others(221): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 202 | 0.0050 | 228 | c.53- others(245): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | chr10 | TogoVar | |||||||
GRM5_chr11_88499642_89070982 | 88687530 | A | ACACACAC others(221): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 184 | 0.0054 | 228 | c.912 others(247): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653201 | C | CCCTCCCC others(221): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0007 | a0004c0007t0010 | a0004c0007t0010g0045 | 1 | 290 | 0.0035 | 228 | c.427 others(245): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323690 | G | GTGTGTGT others(221): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0003others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0034 others(11): Show |
14 | 155 | 0.0903 | 228 | c.-49 others(239): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4895 | chrX | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106709971 | A | ACATGTAT others(221): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0189 | 1 | 256 | 0.0039 | 228 | c.183 others(247): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88380289 | T | TATATAAT others(221): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 174 | 0.0058 | 228 | c.199 others(245): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544961 | C | CTCTACCA others(221): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01168.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0028a0001c0003t0034others(3): Show | a0001c0003t0002g0009 a0001c0003t0002g0031 a0001c0003t0002g0110 others(6): Show |
9 | 134 | 0.0672 | 228 | c.520 others(249): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HRCT1_chr9_35901202_35912136 | 35906598 | A | ACCACCAC others(221): Show |
disruptive_inframe_insertion | MODERATE | HG02148.hp1 | a0062 | a0062c0062 | a0062c0062t0001 | a0062c0062t0001g0000 | 1 | 430 | 0.0023 | 228 | c.316 others(235): Show |
p.His others(241): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 403/935 | 317/348 | 106/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
IFNAR1_chr21_33319970_33364864 | 33322870 | T | TGGAATAT others(221): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 228 | c.-21 others(239): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2099 | chr21 | TogoVar | |||||||
IGF2R_chr6_159964082_160116504 | 159980242 | A | AGAAAGAA others(221): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0003 | a0003c0066 | a0003c0066t0053 | a0003c0066t0053g0162 | 1 | 310 | 0.0032 | 228 | c.149 others(247): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 1/47 | chr6 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132553814 | A | AATATTGG others(221): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 204 | 0.0049 | 228 | c.75+ others(245): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154354415 | A | ACCTCCAC others(221): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 264 | 0.0038 | 228 | c.-62 others(245): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44132792 | A | ACCCACCC others(221): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0162 | 1 | 338 | 0.0030 | 228 | c.117 others(249): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44132792 | A | ACCCACCC others(221): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0327 | 1 | 338 | 0.0030 | 228 | c.117 others(249): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 707442 | A | AGCTGCAG others(221): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0058 | 1 | 254 | 0.0039 | 228 | c.38- others(243): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757984 | G | GATATATA others(221): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 232 | 0.0043 | 228 | c.-67 others(247): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758039 | T | TATATATA others(221): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 232 | 0.0043 | 228 | c.-67 others(247): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758709 | G | GATATATA others(221): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 232 | 0.0043 | 228 | c.-67 others(247): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429025 | A | ATATATAT others(221): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0067 | 1 | 386 | 0.0026 | 228 | c.-43 others(239): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4215 | chr19 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112514833 | G | GCCCCGTC others(221): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0270 | 1 | 308 | 0.0033 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112514853 | G | GGGGGGGT others(221): Show |
intron_variant | MODIFIER | HG02647.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0208 a0001c0001t0002g0235 |
2 | 308 | 0.0065 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112514853 | G | GGGGGGGT others(221): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0067 | 1 | 308 | 0.0033 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112514853 | G | GGGGGGGT others(221): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01934.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0057 others(6): Show |
9 | 308 | 0.0292 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112514853 | G | GGGGGGGT others(221): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 308 | 0.0033 | 228 | c.-25 others(247): 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(221): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 308 | 0.0033 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525964 | T | TTCTTCTC others(221): Show |
intron_variant | MODIFIER | NA18969.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 a0001c0001t0002g0264 |
2 | 308 | 0.0065 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525964 | T | TTCTTCTC others(221): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 308 | 0.0033 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525964 | T | TTCTTCTC others(221): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01517.hp1 HG03942.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0202 a0001c0001t0001g0229 a0001c0001t0002g0238 others(2): Show |
5 | 308 | 0.0162 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525967 | T | TTCTCCTT others(221): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0176 | 1 | 308 | 0.0033 | 228 | c.-25 others(247): 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(221): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0037 a0001c0001t0016g0177 |
2 | 308 | 0.0065 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(221): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0004 | a0002c0004t0051 | a0002c0004t0051g0182 | 1 | 308 | 0.0033 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(221): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0050 | a0001c0002t0050g0083 | 1 | 308 | 0.0033 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(221): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0052 | a0001c0001t0015g0190 a0001c0002t0052g0191 |
2 | 308 | 0.0065 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(221): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 308 | 0.0033 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(221): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 308 | 0.0033 | 228 | c.-25 others(247): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(221): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0062 | a0001c0002t0062g0101 | 1 | 368 | 0.0027 | 228 | c.353 others(245): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120422 | G | GGGAGGAA others(221): Show |
intron_variant | MODIFIER | NA19085.hp2 NA19088.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0021a0001c0017t0002 | a0001c0001t0021g0141 a0001c0017t0002g0008 |
2 | 368 | 0.0054 | 228 | c.353 others(243): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |