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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TWIST2_chr2_238843085_238915534 | 238870128 | A | ACACCACA others(594): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 300 | 0.0033 | 601 | c.*35 others(620): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870189 | A | ACACCCCA others(594): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 295 | 0.0034 | 601 | c.*35 others(620): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530454 | A | ATAATTAT others(594): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 208 | 0.0048 | 601 | c.392 others(618): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131918730 | G | GGGGTGTG others(594): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 169 | 0.0059 | 601 | c.251 others(616): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169173 | T | TCCCTCCC others(594): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 113 | 0.0088 | 601 | c.*85 others(610): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 770 | chrX | TogoVar | |||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(594): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0053 | 1 | 44 | 0.0227 | 601 | c.-1- others(618): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(594): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0153 | 1 | 44 | 0.0227 | 601 | c.-1- others(618): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(594): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0160 | 1 | 44 | 0.0227 | 601 | c.-1- others(618): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(594): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02809.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029a0001c0001t0032 | a0001c0001t0002g0151 a0001c0001t0029g0150 a0001c0001t0032g0067 |
3 | 46 | 0.0652 | 601 | c.-1- others(618): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88460942 | T | TGACCGAG others(594): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0031 | 1 | 151 | 0.0066 | 601 | c.40+ others(616): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(594): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 183 | 0.0055 | 601 | c.-42 others(612): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975303 | T | TTATAGAT others(595): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0099 | 1 | 280 | 0.0036 | 602 | c.130 others(621): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016686 | A | AGGGACGG others(595): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 11 | 0.1818 | 602 | c.-50 others(613): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4780 | chr1 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 906610 | A | AAAGGAGA others(595): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 11 | 0.0909 | 602 | c.389 others(619): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235598025 | T | TTGTGTGG others(595): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0043a0001c0005t0004 | a0001c0002t0043g0064 a0001c0005t0004g0097 |
2 | 88 | 0.0227 | 602 | c.163 others(623): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687581 | A | ACCCCCGT others(595): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 226 | 0.0044 | 602 | c.-19 others(613): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1736 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687691 | C | CGTGACCA others(595): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0238 | 1 | 241 | 0.0041 | 602 | c.-20 others(613): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1846 | chr8 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235400 | A | AAGTGAGG others(595): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0010 | 1 | 293 | 0.0034 | 602 | c.-69 others(611): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 504 | chr20 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122484490 | T | TAAAAATT others(595): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03209.hp1 HG03669.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(1): Show | a0001c0002t0002g0060 a0001c0002t0003g0116 a0001c0002t0007g0086 others(1): Show |
4 | 120 | 0.0333 | 602 | c.185 others(621): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 11/29 | chr7 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88894454 | G | GCACACAT others(595): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 187 | 0.0053 | 602 | c.380 others(619): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82148365 | G | GTGGGTGG others(595): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01106.hp2 others(21): Show |
a0003a0021 | a0003c0004a0021c0028 | a0003c0004t0003a0021c0028t0003 | a0003c0004t0003g0002 a0003c0004t0003g0079 a0003c0004t0003g0080 others(20): Show |
24 | 145 | 0.1655 | 602 | c.245 others(621): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293509 | C | CTCACCTT others(595): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0250 | 1 | 273 | 0.0037 | 602 | c.411 others(619): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(595): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 174 | 0.0057 | 602 | c.342 others(623): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(595): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19043.hp2 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0003a0007c0010t0003 | a0001c0001t0003g0052 a0007c0010t0003g0131 |
2 | 175 | 0.0114 | 602 | c.342 others(623): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(595): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 92 | 0.0109 | 602 | c.80- others(617): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255668 | C | CAGGAAGG others(595): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0177 | 1 | 273 | 0.0037 | 602 | c.85- others(619): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110497817 | C | CAGCTTCA others(595): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 HG03209.hp1 others(1): Show |
a0001a0002a0003 | a0001c0046a0002c0019a0003c0039others(1): Show | a0001c0046t0034a0002c0019t0004a0003c0039t0008others(1): Show | a0001c0046t0034g0007 a0002c0019t0004g0365 a0003c0039t0008g0027 others(1): Show |
4 | 199 | 0.0201 | 602 | c.376 others(621): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 40/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110497817 | C | CAGCTTCA others(595): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0007 | a0007c0059 | a0007c0059t0024 | a0007c0059t0024g0252 | 1 | 196 | 0.0051 | 602 | c.376 others(621): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 40/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3558313 | C | CCAATGAT others(595): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0017 | 1 | 126 | 0.0079 | 602 | c.134 others(623): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3558367 | T | TGGTGCCT others(595): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0084 | a0002c0084t0017 | a0002c0084t0017g0087 | 1 | 121 | 0.0083 | 602 | c.134 others(623): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(595): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 164 | 0.0061 | 602 | c.923 others(621): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DDX50_chr10_68896315_68951847 | 68926144 | T | TTCCAGCC others(595): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0241 a0001c0001t0001g0258 a0001c0001t0001g0259 others(7): Show |
10 | 209 | 0.0478 | 602 | c.123 others(621): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DDX50_chr10_68896315_68951847 | 68926144 | T | TTCCAGCC others(595): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001a0001c0004t0002 | a0001c0002t0001g0008 a0001c0002t0001g0242 a0001c0002t0001g0260 others(10): Show |
14 | 213 | 0.0657 | 602 | c.123 others(621): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DDX50_chr10_68896315_68951847 | 68926144 | T | TTCCAGCC others(595): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 200 | 0.0050 | 602 | c.123 others(621): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DDX50_chr10_68896315_68951847 | 68926144 | T | TTCCAGCC others(595): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03041.hp2 NA18522.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 others(2): Show |
5 | 204 | 0.0245 | 602 | c.123 others(621): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DDX50_chr10_68896315_68951847 | 68926144 | T | TTCCAGCC others(595): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 NA18946.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0147 a0001c0002t0001g0279 a0001c0002t0001g0293 |
3 | 202 | 0.0149 | 602 | c.123 others(621): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGGGA others(595): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 233 | 0.0043 | 602 | c.*29 others(613): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29131600 | T | TCACACAC others(595): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02818.hp2 |
a0001a0002 | a0001c0008a0002c0005 | a0001c0008t0007a0002c0005t0020 | a0001c0008t0007g0039 a0002c0005t0020g0006 |
2 | 3 | 0.6667 | 602 | c.928 others(619): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328236 | T | TATACCCA others(595): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(14): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0060 a0001c0001t0001g0061 others(14): Show |
17 | 62 | 0.2742 | 602 | c.199 others(621): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FKBP2_chr11_64236095_64249132 | 64237126 | G | GAGAGGGA others(595): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 234 | 0.0043 | 602 | c.-40 others(613): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3968 | chr11 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998891 | T | TATTTATA others(595): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 246 | 0.0041 | 602 | c.*51 others(613): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4382 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999111 | A | ATGTATGT others(595): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0231 | 1 | 272 | 0.0037 | 602 | c.*49 others(613): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4162 | chr13 | TogoVar | |||||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(595): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 130 | 0.0077 | 602 | c.684 others(615): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(595): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0184 | 1 | 130 | 0.0077 | 602 | c.684 others(615): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(595): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 130 | 0.0077 | 602 | c.684 others(615): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IGSF9B_chr11_133891438_133961968 | 133932577 | G | GACAGACA others(595): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0007 | a0002c0007t0030 | a0002c0007t0030g0030 | 1 | 77 | 0.0130 | 602 | c.968 others(617): Show |
IGSF9B | ENSG00000080854.16 | transcript | ENST00000533871.8 | protein_coding | 7/19 | chr11 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(595): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0181 | 1 | 100 | 0.0100 | 602 | c.623 others(619): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(595): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0125 | 1 | 100 | 0.0100 | 602 | c.623 others(619): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(595): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0070 | 1 | 100 | 0.0100 | 602 | c.623 others(619): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(595): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03486.hp2 HG06807.hp2 |
a0001a0003 | a0001c0002a0003c0005a0003c0010 | a0001c0002t0002a0003c0005t0009a0003c0010t0012 | a0001c0002t0002g0035 a0003c0005t0009g0077 a0003c0010t0012g0034 |
3 | 102 | 0.0294 | 602 | c.623 others(619): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |