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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2691): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0344 | 1 | 49 | 0.0204 | 2698 | c.192 others(2717): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2691): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 266 | 0.0038 | 2698 | c.-20 others(2717): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76191190 | C | CTACACAC others(2691): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0014 | 1 | 150 | 0.0067 | 2698 | c.581 others(2715): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917081 | C | CTCGGAGG others(2691): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 298 | 0.0034 | 2698 | c.218 others(2713): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819303 | C | CCCTCCCC others(2692): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0066 | 1 | 47 | 0.0213 | 2699 | c.56- others(2712): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2692): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0233 | 1 | 254 | 0.0039 | 2699 | c.-30 others(2710): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | |||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2692): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0241 | 1 | 254 | 0.0039 | 2699 | c.-30 others(2710): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507284 | G | GGGTAGGG others(2692): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 202 | 0.0050 | 2699 | c.624 others(2716): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2692): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0236 | 1 | 266 | 0.0038 | 2699 | c.178 others(2716): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2692): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0177 | 1 | 49 | 0.0204 | 2699 | c.192 others(2718): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2692): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 266 | 0.0038 | 2699 | c.-20 others(2718): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2692): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0025 | 1 | 70 | 0.0143 | 2699 | c.742 others(2716): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2692): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02257.hp1 HG02630.hp1 others(8): Show |
a0002a0015 | a0002c0001a0015c0015 | a0002c0001t0002a0002c0001t0008a0002c0001t0009others(4): Show | a0002c0001t0002g0009 a0002c0001t0002g0107 a0002c0001t0002g0159 others(8): Show |
11 | 80 | 0.1375 | 2699 | c.742 others(2716): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2692): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0003 | a0003c0003t0022 | a0003c0003t0022g0111 | 1 | 70 | 0.0143 | 2699 | c.742 others(2716): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
TAF11L9_chr5_17588798_17599394 | 17598414 | T | TCTCCACA others(2692): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 37 | 0.0270 | 2699 | c.-40 others(2710): Show |
TAF11L9 | ENSG00000283988.1 | transcript | ENST00000639969.1 | protein_coding | 4021 | chr5 | TogoVar | |||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2692): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0018 | 1 | 404 | 0.0025 | 2699 | c.-16 others(2710): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2692): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0077 | 1 | 404 | 0.0025 | 2699 | c.-16 others(2710): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 802080 | C | CGTCCTCA others(2693): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0030 | 1 | 40 | 0.0250 | 2700 | c.18+ others(2717): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399280 | T | TCACCACC others(2693): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 216 | 0.0046 | 2700 | c.-25 others(2717): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2693): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0234 | 1 | 254 | 0.0039 | 2700 | c.-30 others(2711): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | |||||||
MAST4_chr5_66591393_67174593 | 67036257 | T | TAGAAATT others(2693): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0023 | a0003c0023t0010 | a0003c0023t0010g0099 | 1 | 105 | 0.0095 | 2700 | c.675 others(2719): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NKX1-1_chr4_1397932_1411442 | 1398482 | C | CGGGTGCT others(2693): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 259 | 0.0039 | 2700 | c.*44 others(2711): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4449 | chr4 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2693): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 HG02717.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0029a0003c0003t0002 | a0001c0001t0002g0099 a0001c0001t0002g0131 a0001c0001t0029g0361 others(1): Show |
4 | 52 | 0.0769 | 2700 | c.192 others(2719): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2693): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0338 | 1 | 49 | 0.0204 | 2700 | c.192 others(2719): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2693): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 352 | 0.0028 | 2700 | c.*32 others(2711): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2693): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 352 | 0.0028 | 2700 | c.*32 others(2711): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2693): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0003 | a0003c0004 | a0003c0004t0019 | a0003c0004t0019g0083 | 1 | 211 | 0.0047 | 2700 | c.-22 others(2719): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2693): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0089 | 1 | 211 | 0.0047 | 2700 | c.-22 others(2719): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0068 | 1 | 70 | 0.0143 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(36): Show |
a0001a0002a0012 | a0001c0002a0002c0001a0012c0018 | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(16): Show | a0001c0002t0001g0103 a0001c0002t0001g0241 a0001c0002t0004g0127 others(36): Show |
39 | 108 | 0.3611 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0002 | a0002c0001 | a0002c0001t0029 | a0002c0001t0029g0244 | 1 | 70 | 0.0143 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0090 | 1 | 70 | 0.0143 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0001 | a0002c0001t0018 | a0002c0001t0018g0201 | 1 | 70 | 0.0143 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0001 | a0002c0001t0067 | a0002c0001t0067g0145 | 1 | 70 | 0.0143 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0176 | 1 | 70 | 0.0143 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0193 | 1 | 70 | 0.0143 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
TAF11L9_chr5_17588798_17599394 | 17598414 | T | TCTCCCAC others(2693): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 37 | 0.0270 | 2700 | c.-40 others(2711): Show |
TAF11L9 | ENSG00000283988.1 | transcript | ENST00000639969.1 | protein_coding | 4021 | chr5 | TogoVar | |||||||
TAF11L9_chr5_17588798_17599394 | 17598414 | T | TCTCCCAC others(2693): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 37 | 0.0270 | 2700 | c.-40 others(2711): Show |
TAF11L9 | ENSG00000283988.1 | transcript | ENST00000639969.1 | protein_coding | 4021 | chr5 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121748063 | G | GCACTGGG others(2693): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0150 | 1 | 241 | 0.0041 | 2700 | c.189 others(2715): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344509 | T | TGTGTGTG others(2694): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0004 | a0003c0004t0016 | a0003c0004t0016g0195 | 1 | 266 | 0.0038 | 2701 | c.62+ others(2714): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411045 | C | CCTGCTGG others(2694): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0038 | 1 | 194 | 0.0052 | 2701 | c.-20 others(2712): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1899 | chr19 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2694): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 194 | 0.0052 | 2701 | c.573 others(2718): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CNTN5_chr11_99015949_100363885 | 99819301 | T | TTCCCTCC others(2694): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0027 | 1 | 66 | 0.0152 | 2701 | c.56- others(2714): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262095 | G | GTGACCCT others(2694): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0001 | 2 | 235 | 0.0085 | 2701 | c.571 others(2718): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
MAST4_chr5_66591393_67174593 | 67036257 | T | TAGAAATT others(2694): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0005 | a0003c0005t0025 | a0003c0005t0025g0105 | 1 | 105 | 0.0095 | 2701 | c.675 others(2720): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(2694): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0133 | 1 | 87 | 0.0115 | 2701 | c.773 others(2716): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2694): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 266 | 0.0038 | 2701 | c.-20 others(2720): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2694): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 266 | 0.0038 | 2701 | c.-20 others(2720): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2694): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 266 | 0.0038 | 2701 | c.-20 others(2720): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2694): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0003 | a0003c0004 | a0003c0004t0009 | a0003c0004t0009g0077 | 1 | 211 | 0.0047 | 2701 | c.-22 others(2720): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |