| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LRRK2_chr12_40219997_40374285 | 40247664 | A | ATATTTAT others(489): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0310 | 1 | 364 | 0.0027 | 496 | c.839 others(513): Show |
LRRK2 | ENSG00000188906.17 | transcript | ENST00000298910.12 | protein_coding | 7/50 | chr12 | TogoVar | |||||||
| LRRK2_chr12_40219997_40374285 | 40247728 | A | ATATTTAT others(489): Show |
intron_variant | MODIFIER | HG02027.hp2 HG04199.hp1 NA18970.hp1 others(7): Show |
a0001a0004a0007 | a0001c0005a0004c0006a0007c0012 | a0001c0005t0005a0004c0006t0001a0004c0006t0008others(1): Show | a0001c0005t0005g0215 a0004c0006t0001g0344 a0004c0006t0008g0002 others(6): Show |
10 | 317 | 0.0315 | 496 | c.839 others(513): Show |
LRRK2 | ENSG00000188906.17 | transcript | ENST00000298910.12 | protein_coding | 7/50 | chr12 | TogoVar | |||||||
| LRRK2_chr12_40219997_40374285 | 40247728 | A | ATATTTAT others(489): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0074 | 1 | 308 | 0.0032 | 496 | c.839 others(513): Show |
LRRK2 | ENSG00000188906.17 | transcript | ENST00000298910.12 | protein_coding | 7/50 | chr12 | TogoVar | |||||||
| LRRK2_chr12_40219997_40374285 | 40247728 | A | ATATTTAT others(489): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0016 | a0003c0016t0009 | a0003c0016t0009g0141 | 1 | 308 | 0.0032 | 496 | c.839 others(513): Show |
LRRK2 | ENSG00000188906.17 | transcript | ENST00000298910.12 | protein_coding | 7/50 | chr12 | TogoVar | |||||||
| LUC7L_chr16_183990_234449 | 187105 | G | GGGGACAG others(489): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 315 | 0.0032 | 496 | c.*20 others(507): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1884 | chr16 | TogoVar | |||||||
| MBNL3_chrX_132364320_132494038 | 132396705 | T | TATATAGA others(489): Show |
intron_variant | MODIFIER | HG00621.hp1 NA19057.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0035 | a0001c0001t0003g0088 a0001c0001t0003g0096 a0001c0001t0035g0059 |
3 | 157 | 0.0191 | 496 | c.343 others(513): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
| MCF2L_chr13_112964214_113104742 | 113079794 | G | GGTCCAGG others(489): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02129.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0021 | a0001c0003t0002g0078 a0001c0003t0021g0089 |
2 | 3 | 0.6667 | 496 | c.180 others(515): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| MCF2L_chr13_112964214_113104742 | 113079794 | G | GGTCCAGG others(489): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0005 | a0001c0005t0026 | a0001c0005t0026g0016 | 1 | 2 | 0.5000 | 496 | c.180 others(515): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| MCF2L_chr13_112964214_113104742 | 113079794 | G | GGTCCAGG others(489): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01361.hp1 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0030 | a0001c0005t0001g0020 a0001c0005t0001g0066 a0001c0005t0001g0079 others(4): Show |
7 | 8 | 0.8750 | 496 | c.180 others(515): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| MEX3D_chr19_1549672_1573325 | 1550131 | C | CCCACCCA others(489): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 245 | 0.0041 | 496 | c.*54 others(507): Show |
MEX3D | ENSG00000181588.17 | transcript | ENST00000402693.5 | protein_coding | 4540 | chr19 | TogoVar | |||||||
| MEX3D_chr19_1549672_1573325 | 1550131 | C | CCCACCCA others(489): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 NA18956.hp2 NA18959.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0009a0003c0006t0001 | a0001c0001t0009g0045 a0001c0001t0009g0047 a0001c0001t0009g0048 others(2): Show |
5 | 249 | 0.0201 | 496 | c.*54 others(507): Show |
MEX3D | ENSG00000181588.17 | transcript | ENST00000402693.5 | protein_coding | 4540 | chr19 | TogoVar | |||||||
| MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(489): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 173 | 0.0058 | 496 | c.641 others(511): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
| MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(489): Show |
intron_variant | MODIFIER | NA18978.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0124 a0001c0001t0014g0138 |
2 | 9 | 0.2222 | 496 | c.293 others(515): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690669 | T | TATATATA others(489): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0180 | 1 | 236 | 0.0042 | 496 | c.358 others(513): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MYO1G_chr7_44957662_44984015 | 44961150 | G | GGGGCTGA others(489): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 346 | 0.0029 | 496 | c.*15 others(507): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1511 | chr7 | TogoVar | |||||||
| NCAPG2_chr7_158626169_158709804 | 158667934 | C | CCACTACT others(489): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 365 | 0.0027 | 496 | c.148 others(515): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TAATATAA others(489): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0067 | 1 | 202 | 0.0050 | 496 | c.48+ others(511): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TTATATAT others(489): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0197 | 1 | 202 | 0.0050 | 496 | c.48+ others(511): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805448 | C | CCCCCCTC others(489): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 313 | 0.0032 | 496 | c.-38 others(507): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3744 | chr2 | TogoVar | |||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(489): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0355 | 1 | 118 | 0.0085 | 496 | c.-75 others(515): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
| OSGIN1_chr16_83948240_83971332 | 83951772 | C | CCCCTCCT others(489): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0167 | 1 | 348 | 0.0029 | 496 | c.-16 others(507): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 1467 | chr16 | TogoVar | |||||||
| OSTF1_chr9_75083514_75152265 | 75139056 | T | TTCTTTCT others(489): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0348 | 1 | 348 | 0.0029 | 496 | c.487 others(513): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PALLD_chr4_168492052_168933441 | 168793121 | G | GTGTGTGC others(489): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0029 | 1 | 40 | 0.0250 | 496 | c.196 others(517): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PARD3B_chr2_204540475_205625162 | 204648652 | A | AATATATT others(489): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 23 | 0.0435 | 496 | c.121 others(515): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(489): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 182 | 0.0055 | 496 | c.-26 others(507): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
| PLCB1_chr20_8127266_8889900 | 8662120 | A | AATTATAT others(489): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01175.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 a0001c0002t0001g0077 |
2 | 84 | 0.0238 | 496 | c.862 others(513): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | chr20 | TogoVar | |||||||
| PLXNA4_chr7_132118340_132581470 | 132188998 | G | GGAAAGGA others(489): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 61 | 0.0164 | 496 | c.285 others(515): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | |||||||
| POLG_chr15_89311320_89339824 | 89325223 | A | AGAGTGAG others(489): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | 496 | c.194 others(513): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
| PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGCATGAC others(489): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0004 | a0002c0004t0035 | a0002c0004t0035g0132 | 1 | 210 | 0.0048 | 496 | c.227 others(513): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50397972 | C | CGGGGGGC others(489): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0124 | 1 | 260 | 0.0038 | 496 | c.227 others(513): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | chr22 | TogoVar | |||||||
| PRKAG2_chr7_151551127_151882115 | 151855474 | C | CCACACAC others(489): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 80 | 0.0125 | 496 | c.114 others(515): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
| PRPF31_chr19_54110754_54136713 | 54133778 | T | TCTCTCCA others(489): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 207 | 0.0048 | 496 | c.*23 others(507): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2066 | chr19 | TogoVar | |||||||
| PRPF31_chr19_54110754_54136713 | 54133923 | C | CCCCTCTC others(489): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 204 | 0.0049 | 496 | c.*24 others(507): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2211 | chr19 | TogoVar | |||||||
| PXDN_chr2_1626887_1749515 | 1720178 | A | AGAGGGAG others(489): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0201 | 1 | 282 | 0.0035 | 496 | c.200 others(515): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
| PXDN_chr2_1626887_1749515 | 1720178 | A | AGAGGGAG others(489): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02040.hp2 HG02132.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0002g0158 others(4): Show |
7 | 288 | 0.0243 | 496 | c.200 others(515): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
| RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCGGGA others(489): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 235 | 0.0043 | 496 | c.126 others(515): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114044431 | C | CACTCGCT others(489): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 32 | 0.0313 | 496 | c.278 others(513): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
| RIMBP2_chr12_130391133_130721299 | 130482805 | T | TTGTGTGT others(489): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 170 | 0.0059 | 496 | c.-3- others(511): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
| RNF17_chr13_24759169_24884921 | 24881903 | G | GATATATA others(489): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 397 | 0.0025 | 496 | c.*21 others(507): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 1983 | chr13 | TogoVar | |||||||
| RNF213_chr17_80255852_80403794 | 80281590 | G | GCCAACAC others(489): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0101 | a0101c0106 | a0101c0106t0009 | a0101c0106t0009g0032 | 1 | 172 | 0.0058 | 496 | c.262 others(513): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80281590 | G | GCCAACAC others(489): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG01099.hp1 |
a0020a0021 | a0020c0026a0021c0024 | a0020c0026t0006a0021c0024t0013 | a0020c0026t0006g0207 a0021c0024t0013g0059 a0021c0024t0013g0060 |
3 | 174 | 0.0172 | 496 | c.262 others(513): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80281590 | G | GCCAACAC others(489): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0019 | a0019c0126 | a0019c0126t0050 | a0019c0126t0050g0180 | 1 | 172 | 0.0058 | 496 | c.262 others(513): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80281591 | C | CCAACACA others(489): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0074 | a0074c0128 | a0074c0128t0004 | a0074c0128t0004g0168 | 1 | 290 | 0.0034 | 496 | c.262 others(513): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 221119 | A | ACCCAAGC others(489): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 122 | 0.0082 | 496 | c.614 others(513): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 221515 | A | AGACAACA others(489): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 132 | 0.0076 | 496 | c.614 others(513): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
| RTP5_chr2_241864729_241878823 | 241877949 | T | TGCTCCCC others(489): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0001 | 1 | 235 | 0.0043 | 496 | c.*46 others(507): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 4127 | chr2 | TogoVar | |||||||
| SAMD12_chr8_118372984_118626963 | 118469545 | T | TAATATAT others(489): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 29 | 0.0345 | 496 | c.193 others(515): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
| SAMD12_chr8_118372984_118626963 | 118469545 | T | TAATATAT others(489): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 29 | 0.0345 | 496 | c.193 others(515): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
| SIGIRR_chr11_400716_419999 | 401119 | C | CGCCCCGC others(489): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0062 | 1 | 227 | 0.0044 | 496 | c.*47 others(507): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4596 | chr11 | TogoVar | |||||||
| SKI_chr1_2223319_2315213 | 2281318 | T | TGGCGGAG others(489): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0064 | 1 | 310 | 0.0032 | 496 | c.970 others(515): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |