| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CLPTM1L_chr5_1312752_1350099 | 1333252 | A | AGATGAGG others(502): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 370 | 0.0027 | 509 | c.891 others(526): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 140917 | G | GGACCTTG others(502): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0269 | 1 | 339 | 0.0030 | 509 | c.*65 others(520): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 1871 | chr17 | TogoVar | ||||||
| DYM_chr18_49031387_49465645 | 49440818 | T | TTATATAA others(502): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 290 | 0.0035 | 509 | c.-53 others(528): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | ||||||
| EIF3B_chr7_2349827_2385745 | 2378317 | C | CCTGGGAA others(502): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18954.hp1 NA19070.hp1 |
a0001a0005 | a0001c0003a0005c0007 | a0001c0003t0001a0005c0007t0001 | a0001c0003t0001g0017a0005c0007t0001g0096 | 3 | 384 | 0.0078 | 509 | c.215 others(526): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241806988 | A | ACCCTCCC others(502): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0080 | 1 | 314 | 0.0032 | 509 | c.*28 others(520): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2702 | chr2 | TogoVar | ||||||
| GNA15_chr19_3131033_3168749 | 3145577 | T | TCTCACTC others(502): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02056.hp2 NA18612.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0061a0001c0001t0001g0209a0001c0001t0001g0334others(8): Show | 11 | 450 | 0.0244 | 509 | c.146 others(526): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| GNA15_chr19_3131033_3168749 | 3145577 | T | TCTCACTC others(502): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01192.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0109others(3): Show | 6 | 450 | 0.0133 | 509 | c.146 others(526): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| GPATCH2_chr1_217421992_217636090 | 217524926 | G | GGGAGAGG others(502): Show |
intron_variant | MODIFIER | HG01515.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0034a0001c0001t0020g0160 | 2 | 188 | 0.0106 | 509 | c.109 others(530): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53073903 | A | ATATATAT others(502): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0007 | 1 | 208 | 0.0048 | 509 | c.-97 others(526): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| HBQ1_chr16_175459_186179 | 186068 | G | GGAGGAAC others(502): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 509 | c.*49 others(520): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4890 | chr16 | TogoVar | ||||||
| IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(502): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0023 | a0023c0039 | a0023c0039t0030 | a0023c0039t0030g0094 | 1 | 282 | 0.0036 | 509 | c.623 others(526): 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(502): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0007 | a0007c0048 | a0007c0048t0001 | a0007c0048t0001g0221 | 1 | 282 | 0.0036 | 509 | c.623 others(526): 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(502): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0059 | a0001c0059t0001 | a0001c0059t0001g0233 | 1 | 282 | 0.0036 | 509 | c.623 others(526): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| JAKMIP3_chr10_132060946_132189858 | 132173111 | C | CCTCCTTC others(502): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0075 | 1 | 158 | 0.0063 | 509 | c.*11 others(530): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KIF25_chr6_167992671_168050091 | 167997508 | G | GGGGGCGG others(502): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0305 | 1 | 375 | 0.0027 | 509 | c.-19 others(520): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 162 | chr6 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471507 | T | TATTTTAT others(502): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 260 | 0.0039 | 509 | c.125 others(526): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(502): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0008 | a0008c0061 | a0008c0061t0003 | a0008c0061t0003g0210 | 1 | 294 | 0.0034 | 509 | c.153 others(528): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAAGCC others(502): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02895.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0136a0001c0002t0001g0162 | 2 | 212 | 0.0094 | 509 | c.363 others(526): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAGCCA others(502): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG02897.hp2 others(3): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0017 | a0001c0001t0001a0001c0002t0001a0007c0017t0001 | a0001c0001t0001g0110a0001c0001t0001g0207a0001c0001t0001g0208others(3): Show | 6 | 212 | 0.0283 | 509 | c.363 others(526): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| LRP5_chr11_68307591_68454275 | 68428943 | A | AGCCAGGT others(502): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02965.hp1 NA19030.hp2 others(1): Show |
a0001a0008 | a0001c0004a0008c0015 | a0001c0004t0001a0008c0015t0001 | a0001c0004t0001g0084a0001c0004t0001g0123a0008c0015t0001g0021others(1): Show | 4 | 212 | 0.0189 | 509 | c.363 others(526): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | chr11 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACGCTT others(502): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0203 | 1 | 290 | 0.0035 | 509 | c.129 others(528): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LUC7L_chr16_183990_234449 | 187071 | G | GGAGGAAC others(502): Show |
downstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 350 | 0.0029 | 509 | c.*21 others(520): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1918 | chr16 | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7061870 | T | TATAATAT others(502): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 288 | 0.0035 | 509 | c.-32 others(520): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3195 | chr19 | TogoVar | ||||||
| MCF2L2_chr3_183173041_183433619 | 183314931 | T | TTTGAGAC others(502): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0015 | 1 | 176 | 0.0057 | 509 | c.753 others(526): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
| MCF2L2_chr3_183173041_183433619 | 183314931 | T | TTTGAGAC others(502): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02155.hp1 others(3): Show |
a0004a0010 | a0004c0004a0010c0009 | a0004c0004t0001a0004c0004t0002a0010c0009t0001others(1): Show | a0004c0004t0001g0135a0004c0004t0002g0120a0010c0009t0001g0128others(3): Show | 6 | 176 | 0.0341 | 509 | c.753 others(526): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(502): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0304 | 1 | 388 | 0.0026 | 509 | c.159 others(526): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(502): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0375 | 1 | 384 | 0.0026 | 509 | c.160 others(526): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806988 | A | ACCCTCCC others(502): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0145 | 1 | 319 | 0.0031 | 509 | c.-22 others(520): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2204 | chr2 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(502): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0154 | 1 | 362 | 0.0028 | 509 | c.-75 others(528): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGAGG others(502): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 324 | 0.0031 | 509 | c.140 others(526): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 949394 | G | GGCCTCCT others(502): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 242 | 0.0041 | 509 | c.360 others(528): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 949673 | C | CCCCCCTG others(502): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0176 | 1 | 242 | 0.0041 | 509 | c.360 others(528): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OLFM1_chr9_135082668_135126180 | 135118886 | G | GCTCGCCG others(502): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0210 | 1 | 360 | 0.0028 | 509 | c.784 others(524): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| OPCML_chr11_132409981_133537501 | 133082514 | C | CTCCCCTC others(502): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 | 1 | 68 | 0.0147 | 509 | c.62- others(528): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| PASK_chr2_241101099_241154472 | 241115688 | C | CCGGTCCC others(502): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG03041.hp2 |
a0001 | a0001c0039a0001c0040a0001c0060 | a0001c0039t0001a0001c0040t0001a0001c0060t0002 | a0001c0039t0001g0322a0001c0040t0001g0323a0001c0060t0002g0292 | 3 | 376 | 0.0080 | 509 | c.307 others(526): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(502): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 400 | 0.0025 | 509 | c.*70 others(520): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 402630 | A | ACCCACTC others(502): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 216 | 0.0046 | 509 | c.173 others(526): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCGGG others(502): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0008 | a0008c0025 | a0008c0025t0045 | a0008c0025t0045g0172 | 1 | 210 | 0.0048 | 509 | c.45+ others(520): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PTPN4_chr2_119754922_119989899 | 119843930 | A | ACCCCCCC others(502): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0014 | 1 | 252 | 0.0040 | 509 | c.139 others(528): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(502): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02922.hp1 HG03209.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0020 | a0001c0001t0002a0001c0001t0026a0001c0001t0038others(1): Show | a0001c0001t0002g0189a0001c0001t0026g0188a0001c0001t0038g0190others(1): Show | 4 | 218 | 0.0184 | 509 | c.80+ others(526): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RBFOX3_chr17_79084345_79616051 | 79495580 | T | TGGGAAGG others(502): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01081.hp1 HG01255.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0069others(13): Show | 16 | 154 | 0.1039 | 509 | c.-31 others(530): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(502): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 308 | 0.0033 | 509 | c.-75 others(528): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934260 | A | AGGGGAGG others(502): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0322 | 1 | 434 | 0.0023 | 509 | c.843 others(526): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCAMP1_chr5_78355617_78485739 | 78430084 | A | AGTATTTG others(502): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0178 | 1 | 332 | 0.0030 | 509 | c.632 others(526): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SCAMP1_chr5_78355617_78485739 | 78430203 | T | TTATTTAT others(502): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0050 | 1 | 332 | 0.0030 | 509 | c.632 others(526): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SCGB1C2_chr17_132569_144067 | 140917 | G | GGACCTTG others(502): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 402 | 0.0025 | 509 | c.*19 others(520): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1851 | chr17 | TogoVar | ||||||
| SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(502): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0029 | 1 | 214 | 0.0047 | 509 | c.206 others(528): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
| SMCHD1_chr18_2650726_2810017 | 2740065 | T | TAAATGCT others(502): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0008 | a0008c0024 | a0008c0024t0043 | a0008c0024t0043g0231 | 1 | 340 | 0.0029 | 509 | c.351 others(526): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 27/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| SMYD3_chr1_245744347_246512279 | 246325127 | G | GGGGGGCA others(502): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0113 | 1 | 150 | 0.0067 | 509 | c.531 others(526): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(502): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0100 | 1 | 251 | 0.0040 | 509 | c.*34 others(518): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar |