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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTN4_chr3_2093866_3062959 | 2705509 | A | ATATATAA others(725): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0005 | a0005c0026 | a0005c0026t0017 | a0005c0026t0017g0046 | 1 | 42 | 0.0238 | 732 | c.56- others(749): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(725): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0108 | a0002c0108t0001 | a0002c0108t0001g0249 | 1 | 180 | 0.0056 | 732 | c.85- others(749): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(725): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18983.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0003a0001c0016t0012 | a0001c0001t0003g0146 a0001c0016t0012g0021 |
2 | 178 | 0.0112 | 732 | c.925 others(747): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792921 | C | CTGAGGCG others(725): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18986.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0252 a0004c0007t0001g0244 |
2 | 322 | 0.0062 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02647.hp1 NA18906.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0126 a0002c0003t0003g0131 a0002c0003t0003g0144 |
3 | 87 | 0.0345 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01071.hp1 others(26): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0011 | a0002c0003t0003g0002 a0002c0003t0003g0003 a0002c0003t0003g0009 others(19): Show |
29 | 113 | 0.2566 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0021 | 1 | 85 | 0.0118 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03486.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0291 others(1): Show |
4 | 88 | 0.0455 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 85 | 0.0118 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 85 | 0.0118 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01358.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0211 |
3 | 87 | 0.0345 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0075 | 1 | 85 | 0.0118 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00642.hp2 others(42): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008a0001c0002t0014others(1): Show | a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0023 others(40): Show |
45 | 129 | 0.3488 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18939.hp1 NA18947.hp1 others(6): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0002a0003c0005t0002 | a0001c0002t0002g0020 a0001c0002t0002g0064 a0001c0002t0002g0065 others(6): Show |
9 | 93 | 0.0968 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924879 | C | CCCCCCAC others(725): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0259 | 1 | 322 | 0.0031 | 732 | c.489 others(747): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438426 | A | AGGAGGAG others(725): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0022 | a0022c0049 | a0022c0049t0002 | a0022c0049t0002g0144 | 1 | 214 | 0.0047 | 732 | c.118 others(751): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400827 | T | TCACCACC others(725): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0001 | a0003c0001t0016 | a0003c0001t0016g0157 | 1 | 166 | 0.0060 | 732 | c.323 others(751): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486886 | A | ACCTGCCC others(725): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 340 | 0.0029 | 732 | c.*14 others(743): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1127 | chr20 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99928123 | A | AGGTGGTG others(725): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0255 | 1 | 179 | 0.0056 | 732 | c.190 others(751): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 97610688 | T | TAATAAAA others(725): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0071 | 1 | 81 | 0.0123 | 732 | c.251 others(747): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108586574 | C | CCCCCTTT others(725): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0027 | 1 | 76 | 0.0132 | 732 | c.119 others(749): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(725): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0024 | 1 | 96 | 0.0104 | 732 | c.119 others(751): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586209 | A | AGGGGAAT others(725): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0035 | 1 | 248 | 0.0040 | 732 | c.157 others(747): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586451 | G | GGGGGGGA others(725): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0291 | 1 | 264 | 0.0038 | 732 | c.157 others(749): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586453 | G | GGGGGAAA others(725): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0140 | 1 | 289 | 0.0035 | 732 | c.157 others(749): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(36): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0002c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0084 a0001c0001t0001g0195 a0001c0001t0002g0052 others(34): Show |
39 | 42 | 0.9286 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0165 | 1 | 4 | 0.2500 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 4 | 0.2500 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106 | 1 | 4 | 0.2500 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 4 | 0.2500 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 4 | 0.2500 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0010 | a0010c0017 | a0010c0017t0003 | a0010c0017t0003g0130 | 1 | 4 | 0.2500 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0088 | 1 | 4 | 0.2500 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(725): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 95 | 0.0105 | 732 | c.-97 others(749): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GRINA_chr8_143985056_143998415 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00558.hp1 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0004g0002 others(2): Show |
82 | 83 | 0.9880 | 732 | c.-19 others(743): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1813 | chr8 | TogoVar | |||||||
GRINA_chr8_143985056_143998415 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG03225.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 4 | 0.7500 | 732 | c.-19 others(743): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1813 | chr8 | TogoVar | |||||||
GRINA_chr8_143985056_143998415 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(245): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(31): Show |
248 | 249 | 0.9960 | 732 | c.-19 others(743): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1813 | chr8 | TogoVar | |||||||
GRINA_chr8_143985056_143998415 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 2 | 0.5000 | 732 | c.-19 others(743): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1813 | chr8 | TogoVar | |||||||
GRINA_chr8_143985056_143998415 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 2 | 0.5000 | 732 | c.-19 others(743): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1813 | chr8 | TogoVar | |||||||
GRINA_chr8_143985056_143998415 | 143988243 | G | GGGTTCAA others(725): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 350 | 0.0029 | 732 | c.-19 others(743): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1812 | chr8 | TogoVar | |||||||
GRK5_chr10_119202571_119464745 | 119313047 | G | GTGGTAAT others(725): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0162 | 1 | 162 | 0.0062 | 732 | c.53- others(749): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRM4_chr6_34013643_34151087 | 34073265 | C | CCCCACAC others(725): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01106.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0044 a0001c0001t0001g0196 a0001c0001t0001g0197 others(28): Show |
32 | 228 | 0.1404 | 732 | c.737 others(751): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323052 | T | TATATATA others(725): Show |
upstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 314 | 0.0032 | 732 | c.-20 others(743): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1917 | chr21 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599469 | T | TGGGGGGG others(725): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0020 | 1 | 328 | 0.0030 | 732 | c.369 others(749): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IL33_chr9_6210807_6262983 | 6259673 | T | TGTCCTCT others(725): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02109.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0011a0001c0002t0012 | a0001c0002t0006g0308 a0001c0002t0006g0309 a0001c0002t0011g0316 others(1): Show |
4 | 354 | 0.0113 | 732 | c.*35 others(743): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1691 | chr9 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(725): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01358.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0009 a0001c0001t0002g0002 a0001c0001t0006g0005 |
8 | 12 | 0.6667 | 732 | c.-46 others(743): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45228775 | C | CCCCCAAC others(725): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0130 | 1 | 341 | 0.0029 | 732 | c.64+ others(749): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322700 | T | TTATATAT others(725): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0056 | 1 | 218 | 0.0046 | 732 | c.174 others(751): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(725): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 2 | 5 | 0.4000 | 732 | c.-27 others(743): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(725): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 4 | 0.2500 | 732 | c.-27 others(743): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar |