| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KANK1_chr9_499695_751103 | 514139 | C | CCTTCCTC others(501): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0006 | a0006c0031 | a0006c0031t0002 | a0006c0031t0002g0003 | 1 | 251 | 0.0040 | 508 | c.-84 others(525): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| KIF3A_chr5_132687631_132742546 | 132718933 | T | TCACAGTT others(501): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 344 | 0.0029 | 508 | c.616 others(525): Show |
KIF3A | ENSG00000131437.16 | transcript | ENST00000403231.6 | protein_coding | 5/18 | chr5 | TogoVar | |||||||
| LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(501): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0051 | a0051c0094 | a0051c0094t0001 | a0051c0094t0001g0097 | 1 | 31 | 0.0323 | 508 | c.956 others(525): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
| LRP5_chr11_68307591_68454275 | 68428943 | A | AAAGCCAG others(501): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0106 | 1 | 61 | 0.0164 | 508 | c.363 others(525): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(501): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18950.hp2 NA19079.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 a0001c0002t0001g0257 |
3 | 222 | 0.0135 | 508 | c.129 others(527): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(501): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0237 | 1 | 259 | 0.0039 | 508 | c.129 others(527): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LUZP2_chr11_24492053_25087638 | 24602247 | T | TATATGTA others(501): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 85 | 0.0118 | 508 | c.62+ others(527): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(501): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 108 | 0.0093 | 508 | c.-32 others(519): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | |||||||
| MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(501): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 108 | 0.0093 | 508 | c.-32 others(519): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | |||||||
| MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(501): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 108 | 0.0093 | 508 | c.-32 others(519): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | |||||||
| MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(501): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 108 | 0.0093 | 508 | c.-32 others(519): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | |||||||
| MBD3L3_chr19_7051207_7063676 | 7061816 | T | TATTCTAT others(501): Show |
upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | 508 | c.-32 others(519): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3141 | chr19 | TogoVar | |||||||
| MLPH_chr2_237482251_237560322 | 237544564 | G | GACAGTGG others(501): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 | 1 | 271 | 0.0037 | 508 | c.153 others(527): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
| MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(501): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0083 | 1 | 8 | 0.1250 | 508 | c.293 others(527): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| MTTP_chr4_99569824_99628997 | 99588981 | A | ATATATAT others(501): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 168 | 0.0060 | 508 | c.394 others(523): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
| MUC4_chr3_195741771_195816929 | 195771082 | C | CGGGTTGG others(501): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0007 | a0007c0017 | a0007c0017t0010 | a0007c0017t0010g0005 | 1 | 223 | 0.0045 | 508 | c.132 others(527): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | |||||||
| MUSK_chr9_110663791_110811558 | 110690669 | T | TATATATA others(501): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0116 | 1 | 236 | 0.0042 | 508 | c.358 others(525): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690701 | T | TATATATA others(501): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0051 | 1 | 238 | 0.0042 | 508 | c.358 others(525): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690733 | T | TATATATA others(501): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0049 | 1 | 322 | 0.0031 | 508 | c.358 others(525): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TTATATAT others(501): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0199 | 1 | 202 | 0.0050 | 508 | c.48+ others(523): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(501): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0294 | 1 | 220 | 0.0045 | 508 | c.*92 others(519): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | |||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(501): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0323 | 1 | 220 | 0.0045 | 508 | c.*92 others(519): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | |||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(501): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0054 | 1 | 220 | 0.0045 | 508 | c.*92 others(519): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | |||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(501): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 255 | 0.0078 | 508 | c.-16 others(519): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(501): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 255 | 0.0078 | 508 | c.-16 others(519): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(501): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 122 | 0.0082 | 508 | c.*70 others(519): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
| PEBP1_chr12_118131124_118150584 | 118133183 | T | TATATTTT others(501): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 401 | 0.0025 | 508 | c.-30 others(519): Show |
PEBP1 | ENSG00000089220.5 | transcript | ENST00000261313.3 | protein_coding | 2940 | chr12 | TogoVar | |||||||
| PIAS4_chr19_4002736_4044386 | 4011658 | T | TGGTGTGG others(501): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0247 | 1 | 292 | 0.0034 | 508 | c.28- others(523): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 11014899 | G | GATGTCAC others(501): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02896.hp2 others(2): Show |
a0002a0007a0015 | a0002c0001a0002c0015a0007c0004others(1): Show | a0002c0001t0001a0002c0001t0002a0002c0015t0002others(2): Show | a0002c0001t0001g0087 a0002c0001t0002g0151 a0002c0015t0002g0108 others(2): Show |
5 | 158 | 0.0316 | 508 | c.161 others(527): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 2/55 | chr18 | TogoVar | |||||||
| PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCCGG others(501): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0030 | a0030c0026 | a0030c0026t0056 | a0030c0026t0056g0168 | 1 | 2 | 0.5000 | 508 | c.45+ others(519): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCGGG others(501): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19043.hp2 |
a0008 | a0008c0024a0008c0025 | a0008c0024t0022a0008c0025t0062 | a0008c0024t0022g0175 a0008c0025t0062g0173 |
2 | 3 | 0.6667 | 508 | c.45+ others(519): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCGGG others(501): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0006 | a0006c0073 | a0006c0073t0020 | a0006c0073t0020g0193 | 1 | 2 | 0.5000 | 508 | c.45+ others(519): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 165745 | T | TGCTGTGA others(501): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0008 | a0008c0025 | a0008c0025t0011 | a0008c0025t0011g0171 | 1 | 197 | 0.0051 | 508 | c.347 others(527): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| POLG_chr15_89311320_89339824 | 89325239 | T | TGAGAGAG others(501): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 | 1 | 389 | 0.0026 | 508 | c.194 others(525): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
| PRKCZ_chr1_2045411_2190395 | 2106545 | C | CGTGTGTC others(501): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 244 | 0.0041 | 508 | c.335 others(527): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
| PXDN_chr2_1626887_1749515 | 1711457 | T | TCTCCACC others(501): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0151 | 1 | 234 | 0.0043 | 508 | c.201 others(527): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
| PXDN_chr2_1626887_1749515 | 1720263 | G | GAGAGGGA others(501): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 281 | 0.0036 | 508 | c.200 others(527): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
| PXDN_chr2_1626887_1749515 | 1720263 | G | GAGAGGGA others(501): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG02074.hp1 others(10): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0069 a0001c0001t0001g0107 a0001c0001t0001g0126 others(10): Show |
13 | 293 | 0.0444 | 508 | c.200 others(527): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
| RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(501): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0008 | a0002c0008t0005 | a0002c0008t0005g0195 | 1 | 10 | 0.1000 | 508 | c.80+ others(525): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RAPGEF1_chr9_131571775_131745076 | 131586841 | A | AACACACA others(501): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0005 | a0001c0005t0032 | a0001c0005t0032g0067 | 1 | 234 | 0.0043 | 508 | c.323 others(525): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | |||||||
| SARDH_chr9_133658560_133743352 | 133669212 | C | CTCCCTCT others(501): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03486.hp1 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0048 a0002c0002t0002g0208 a0002c0002t0002g0237 |
3 | 220 | 0.0136 | 508 | c.249 others(527): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
| SATL1_chrX_85087284_85248779 | 85088046 | G | GTATGTAT others(501): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 196 | 0.0051 | 508 | c.*43 others(519): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4237 | chrX | TogoVar | |||||||
| SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(501): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0138 | 1 | 164 | 0.0061 | 508 | c.464 others(521): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(501): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0019 | a0019c0050 | a0019c0050t0019 | a0019c0050t0019g0092 | 1 | 45 | 0.0222 | 508 | c.332 others(527): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934390 | T | TATATATA others(501): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0309 | 1 | 284 | 0.0035 | 508 | c.115 others(525): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
| SEPTIN9_chr17_77276499_77505593 | 77485015 | G | GCGATTGT others(501): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0102 | 1 | 9 | 0.1111 | 508 | c.914 others(525): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | chr17 | TogoVar | |||||||
| SEPTIN9_chr17_77314518_77505593 | 77485015 | G | GCGATTGT others(501): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0145 | 1 | 9 | 0.1111 | 508 | c.860 others(525): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | chr17 | TogoVar | |||||||
| SNX9_chr6_157818246_157950077 | 157827147 | T | TATAGTTT others(501): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 100 | 0.0100 | 508 | c.12+ others(523): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(501): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 12 | 0.0833 | 508 | c.*34 others(517): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
| SPATC1L_chr21_46156160_46189459 | 46169781 | C | CCCCCTAC others(501): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0157 |
2 | 250 | 0.0080 | 508 | c.194 others(525): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar |