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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANO2_chr12_5557655_5950259 | 5932365 | A | AAAGGAAA others(2657): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0124 | 1 | 87 | 0.0115 | 2664 | c.23- others(2679): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932526 | T | TAGACGAG others(2657): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 72 | 0.0139 | 2664 | c.23- others(2679): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932526 | T | TAGACGAG others(2657): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03041.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0106 a0002c0003t0003g0107 |
2 | 73 | 0.0274 | 2664 | c.23- others(2679): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2657): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 50 | 0.0200 | 2664 | c.147 others(2681): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411304 | T | TCTGCTGG others(2657): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0034 | 1 | 108 | 0.0093 | 2664 | c.-23 others(2675): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2158 | chr19 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2657): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 7 | 0.1429 | 2664 | c.*16 others(2675): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2657): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 7 | 0.1429 | 2664 | c.*16 others(2675): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2657): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0001 | 1 | 172 | 0.0058 | 2664 | c.*22 others(2675): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2657): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 7 | 0.1429 | 2664 | c.*22 others(2675): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2657): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 7 | 0.1429 | 2664 | c.*22 others(2675): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6262132 | G | GTGACCCT others(2657): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0009 | a0009c0008 | a0009c0008t0003 | a0009c0008t0003g0177 | 1 | 283 | 0.0035 | 2664 | c.571 others(2681): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399423 | A | ACCACCAC others(2657): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 287 | 0.0035 | 2664 | c.-25 others(2681): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2657): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0287 | 1 | 254 | 0.0039 | 2664 | c.-30 others(2675): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2657): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 249 | 0.0040 | 2664 | c.-11 others(2675): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2657): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0051 |
2 | 250 | 0.0080 | 2664 | c.-11 others(2675): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
KDM6A_chrX_44868188_45117779 | 45087827 | T | TAGAAGGA others(2657): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0134 | 1 | 197 | 0.0051 | 2664 | c.370 others(2683): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
LRCH3_chr3_197786254_197893436 | 197877547 | C | CTCACCGC others(2657): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0084 | 1 | 242 | 0.0041 | 2664 | c.220 others(2683): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2657): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0072 | 1 | 9 | 0.1111 | 2664 | c.*39 others(2675): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744757 | T | TCCTGGTT others(2657): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0037 | a0001c0037t0004 | a0001c0037t0004g0145 | 1 | 124 | 0.0081 | 2664 | c.655 others(2681): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2657): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0210 | 1 | 213 | 0.0047 | 2664 | c.482 others(2679): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2657): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0010 | 1 | 70 | 0.0143 | 2664 | c.742 others(2681): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2657): Show |
intron_variant | MODIFIER | HG03654.hp1 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0040 | a0001c0002t0005g0008 a0001c0002t0040g0095 |
2 | 71 | 0.0282 | 2664 | c.742 others(2681): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2657): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 404 | 0.0025 | 2664 | c.-16 others(2675): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477321 | A | ACCCCCAT others(2658): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 325 | 0.0031 | 2665 | c.147 others(2682): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2658): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0021 | a0002c0021t0001 | a0002c0021t0001g0027 | 1 | 158 | 0.0063 | 2665 | c.126 others(2682): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2658): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 |
3 | 400 | 0.0075 | 2665 | c.283 others(2682): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494762 | T | TGAGGTGG others(2658): Show |
intron_variant | MODIFIER | HG01106.hp1 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0019a0001c0002t0044 | a0001c0002t0019g0285 a0001c0002t0044g0025 |
2 | 251 | 0.0080 | 2665 | c.126 others(2684): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2658): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0123 | 1 | 280 | 0.0036 | 2665 | c.-18 others(2686): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2658): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0228 | 1 | 70 | 0.0143 | 2665 | c.742 others(2682): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2658): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18747.hp1 NA18747.hp2 others(3): Show |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0001a0001c0002t0048a0001c0002t0079others(1): Show | a0001c0002t0001g0099 a0001c0002t0001g0227 a0001c0002t0048g0226 others(3): Show |
6 | 75 | 0.0800 | 2665 | c.742 others(2682): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2658): Show |
intron_variant | MODIFIER | HG02717.hp1 NA18994.hp2 |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0013a0003c0003t0046 | a0001c0002t0013g0216 a0003c0003t0046g0162 |
2 | 71 | 0.0282 | 2665 | c.742 others(2682): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2659): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0089 | 1 | 30 | 0.0333 | 2666 | c.445 others(2681): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2659): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 | 1 | 398 | 0.0025 | 2666 | c.283 others(2683): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2659): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0231 | 1 | 398 | 0.0025 | 2666 | c.283 others(2683): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841445 | C | CACCCTGA others(2659): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 160 | 0.0063 | 2666 | c.361 others(2685): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2659): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0038 | 1 | 34 | 0.0294 | 2666 | c.299 others(2681): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2659): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0078 | 1 | 70 | 0.0143 | 2666 | c.742 others(2683): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2659): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0222 | 1 | 70 | 0.0143 | 2666 | c.742 others(2683): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2659): Show |
intron_variant | MODIFIER | NA18998.hp1 NA19079.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0067 a0003c0003t0003g0218 |
2 | 71 | 0.0282 | 2666 | c.742 others(2683): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
SV2C_chr5_76078383_76338956 | 76191190 | C | CTACACAC others(2659): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02572.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0073a0001c0001t0084 | a0001c0001t0008g0217 a0001c0001t0073g0090 a0001c0001t0084g0089 |
3 | 152 | 0.0197 | 2666 | c.581 others(2683): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76191190 | C | CTACACAC others(2659): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02280.hp2 HG02451.hp1 others(7): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(5): Show | a0001c0001t0002g0224 a0001c0001t0004g0219 a0001c0001t0012g0083 others(7): Show |
10 | 159 | 0.0629 | 2666 | c.581 others(2683): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2659): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 19 | 0.0526 | 2666 | c.389 others(2685): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2660): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 50 | 0.0200 | 2667 | c.147 others(2684): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2660): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0032 | 1 | 294 | 0.0034 | 2667 | c.147 others(2684): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2660): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0043 | 1 | 294 | 0.0034 | 2667 | c.147 others(2684): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2660): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0035 | 1 | 2 | 0.5000 | 2667 | c.126 others(2684): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2660): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0225 | 1 | 398 | 0.0025 | 2667 | c.283 others(2684): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2660): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 398 | 0.0025 | 2667 | c.283 others(2684): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MTRFR_chr12_123228436_123262960 | 123246733 | T | TTTGTTTG others(2660): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 300 | 0.0033 | 2667 | c.-28 others(2684): Show |
MTRFR | ENSG00000130921.9 | transcript | ENST00000253233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2660): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 322 | 0.0031 | 2667 | c.*44 others(2678): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar |