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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2741): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0068 | 1 | 166 | 0.0060 | 2748 | c.173 others(2769): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(2741): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 32 | 0.0313 | 2748 | c.56- others(2761): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2741): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 284 | 0.0035 | 2748 | c.-17 others(2759): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399328 | C | CCATCACC others(2741): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 a0001c0001t0002g0258 |
2 | 295 | 0.0068 | 2748 | c.-25 others(2765): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LARP6_chr15_70824130_70859157 | 70850768 | C | CAAAACCT others(2741): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0177 | 1 | 388 | 0.0026 | 2748 | c.200 others(2765): Show |
LARP6 | ENSG00000166173.11 | transcript | ENST00000299213.10 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
LYRM1_chr16_20895771_20930006 | 20912135 | T | TAAAAACA others(2741): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 380 | 0.0026 | 2748 | c.1-3 others(2761): Show |
LYRM1 | ENSG00000102897.10 | transcript | ENST00000567954.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TGTCTCCT others(2741): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0226 | 1 | 206 | 0.0049 | 2748 | c.433 others(2765): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2741): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 7 | 0.1429 | 2748 | c.*27 others(2759): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2741): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0010 | a0010c0017 | a0010c0017t0003 | a0010c0017t0003g0283 | 1 | 254 | 0.0039 | 2748 | c.989 others(2765): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2741): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0259 | 1 | 254 | 0.0039 | 2748 | c.989 others(2765): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2741): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 18 | 0.0556 | 2748 | c.372 others(2763): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2741): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0320 | 1 | 18 | 0.0556 | 2748 | c.372 others(2763): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIC_chr12_101470336_101491997 | 101484138 | A | AGAAAGCT others(2741): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 392 | 0.0026 | 2748 | c.319 others(2765): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2741): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0153 | 1 | 213 | 0.0047 | 2748 | c.482 others(2763): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2741): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01943.hp1 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0214 a0001c0002t0012g0225 |
2 | 71 | 0.0282 | 2748 | c.742 others(2765): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
UTRN_chr6_144280335_144858034 | 144288550 | T | TTTGATTC others(2741): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0011 | a0001c0011t0014 | a0001c0011t0014g0122 | 1 | 120 | 0.0083 | 2748 | c.-93 others(2765): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2741): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0016 | a0016c0020 | a0016c0020t0030 | a0016c0020t0030g0076 | 1 | 404 | 0.0025 | 2748 | c.-16 others(2759): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236713593 | T | TCTGTGTG others(2742): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0090 | 1 | 318 | 0.0031 | 2749 | c.127 others(2766): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2742): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 50 | 0.0200 | 2749 | c.147 others(2766): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MRPL22_chr5_154936073_154974411 | 154958481 | A | ACATTCTT others(2742): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 351 | 0.0028 | 2749 | c.339 others(2766): Show |
MRPL22 | ENSG00000082515.18 | transcript | ENST00000523037.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2742): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0013 | a0013c0067 | a0013c0067t0001 | a0013c0067t0001g0107 | 1 | 34 | 0.0294 | 2749 | c.299 others(2764): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133749 | T | TCTCTCCT others(2742): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 216 | 0.0046 | 2749 | c.*23 others(2760): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2037 | chr19 | TogoVar | |||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(2742): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 87 | 0.0115 | 2749 | c.-51 others(2768): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2742): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0097 | 1 | 274 | 0.0036 | 2749 | c.130 others(2766): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2742): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0258 | 1 | 254 | 0.0039 | 2749 | c.989 others(2766): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2742): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0260 | 1 | 254 | 0.0039 | 2749 | c.989 others(2766): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2742): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0261 | 1 | 254 | 0.0039 | 2749 | c.989 others(2766): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2742): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0262 | 1 | 254 | 0.0039 | 2749 | c.989 others(2766): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2742): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0262 | 1 | 70 | 0.0143 | 2749 | c.742 others(2766): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2742): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02004.hp1 HG02293.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0032a0001c0002t0034 | a0001c0002t0012g0101 a0001c0002t0032g0155 a0001c0002t0034g0034 others(1): Show |
4 | 73 | 0.0548 | 2749 | c.742 others(2766): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2743): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0208 | 1 | 288 | 0.0035 | 2750 | c.96+ others(2765): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
CNTN5_chr11_99015949_100363885 | 99819303 | C | CCCTCCCC others(2743): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0006 | a0006c0005 | a0006c0005t0003 | a0006c0005t0003g0045 | 1 | 47 | 0.0213 | 2750 | c.56- others(2763): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ITPK1_chr14_92931914_93120925 | 93106218 | C | CAAAGGCT others(2743): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0235 | 1 | 231 | 0.0043 | 2750 | c.95+ others(2765): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 2/10 | chr14 | TogoVar | |||||||
MRPL22_chr5_154936073_154974411 | 154958481 | A | ACATTCTT others(2743): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 351 | 0.0028 | 2750 | c.339 others(2767): Show |
MRPL22 | ENSG00000082515.18 | transcript | ENST00000523037.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2743): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 353 | 0.0057 | 2750 | c.*32 others(2761): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
SPIC_chr12_101470336_101491997 | 101484138 | A | AGAAAGCT others(2743): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 392 | 0.0026 | 2750 | c.319 others(2767): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(2744): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0066 | a0066c0132 | a0066c0132t0001 | a0066c0132t0001g0054 | 1 | 31 | 0.0323 | 2751 | c.956 others(2768): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
MRPL22_chr5_154936073_154974411 | 154958481 | A | ACATTCTT others(2744): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0109 | 1 | 351 | 0.0028 | 2751 | c.339 others(2768): Show |
MRPL22 | ENSG00000082515.18 | transcript | ENST00000523037.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2744): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 82 | 0.0122 | 2751 | c.147 others(2768): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50406704 | C | CTTTTTTT others(2744): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0191 | 1 | 7 | 0.1429 | 2751 | c.-23 others(2772): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251217 | A | ACCCCCCC others(2745): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0113 | 1 | 91 | 0.0110 | 2752 | c.207 others(2771): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(2745): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0070 | 1 | 11 | 0.0909 | 2752 | c.-16 others(2773): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(2745): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0077 | 1 | 11 | 0.0909 | 2752 | c.-16 others(2773): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63450548 | A | ACTGCTGG others(2745): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0277 | 1 | 5 | 0.2000 | 2752 | c.297 others(2769): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2745): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0109 | 1 | 71 | 0.0141 | 2752 | c.153 others(2771): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
NBEAL1_chr2_203009875_203230194 | 203218165 | T | TAAGAGTT others(2745): Show |
3_prime_UTR_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0072 | 1 | 290 | 0.0034 | 2752 | c.*82 others(2761): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 821 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NCEH1_chr3_172625249_172716067 | 172685023 | T | TAGCGGCT others(2745): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 324 | 0.0031 | 2752 | c.138 others(2771): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2745): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0303 | 1 | 254 | 0.0039 | 2752 | c.989 others(2769): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2745): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 18 | 0.0556 | 2752 | c.372 others(2767): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2745): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0309 | 1 | 325 | 0.0031 | 2752 | c.138 others(2771): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |