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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(941): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0246 | 1 | 4 | 0.2500 | 948 | c.712 others(965): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(941): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 243 | 0.0041 | 948 | c.666 others(963): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803280 | G | GCCGGGGG others(941): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 2 | 310 | 0.0065 | 948 | c.666 others(963): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(941): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 NA18961.hp1 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0167 a0001c0001t0003g0052 a0001c0001t0003g0056 |
3 | 72 | 0.0417 | 948 | c.*51 others(959): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61331613 | C | CCCCAGAC others(941): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01884.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0039others(2): Show | a0001c0001t0001g0029 a0001c0001t0002g0007 a0001c0003t0039g0063 others(3): Show |
6 | 70 | 0.0857 | 948 | c.169 others(967): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331613 | C | CCCCAGAC others(941): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0016 | 1 | 65 | 0.0154 | 948 | c.169 others(967): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132822265 | G | GTGAGTGC others(941): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0072 | a0072c0053 | a0072c0053t0001 | a0072c0053t0001g0173 | 1 | 134 | 0.0075 | 948 | c.711 others(967): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132823521 | G | GTGTGCTG others(941): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0043 | a0009c0043t0001 | a0009c0043t0001g0209 | 1 | 233 | 0.0043 | 948 | c.711 others(967): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(941): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0001 | 1 | 174 | 0.0057 | 948 | c.342 others(969): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(941): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 348 | 0.0029 | 948 | c.51+ others(963): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(941): Show |
intron_variant | MODIFIER | HG01952.hp2 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0238 |
2 | 349 | 0.0057 | 948 | c.51+ others(963): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287184 | T | TACTATGT others(941): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 342 | 0.0029 | 948 | c.51+ others(963): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287248 | T | TACTATGT others(941): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 328 | 0.0030 | 948 | c.51+ others(963): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(941): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0022 | a0003c0022t0001 | a0003c0022t0001g0010 | 1 | 86 | 0.0116 | 948 | c.*39 others(959): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(941): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0031 | 1 | 86 | 0.0116 | 948 | c.*39 others(959): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(941): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 86 | 0.0116 | 948 | c.*39 others(959): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(941): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 181 | 0.0055 | 948 | c.*14 others(959): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 59867163 | T | TAATCAGC others(941): Show |
intron_variant | MODIFIER | HG01169.hp1 NA20905.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0010 a0001c0002t0001g0031 |
2 | 16 | 0.1250 | 948 | c.348 others(967): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 8/9 | chr3 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435248 | A | AAGGAAGG others(941): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0061 | 1 | 78 | 0.0128 | 948 | c.-16 others(969): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557406 | A | ATATTATA others(941): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 345 | 0.0029 | 948 | c.94- others(961): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(941): Show |
intron_variant | MODIFIER | HG03942.hp2 NA18962.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0081 a0001c0001t0001g0152 a0001c0001t0010g0083 |
3 | 200 | 0.0150 | 948 | c.804 others(965): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53284196 | T | TACTTACC others(941): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03130.hp1 HG03540.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0016a0002c0002t0001 | a0001c0001t0004g0012 a0001c0001t0016g0276 a0002c0002t0001g0129 |
4 | 222 | 0.0180 | 948 | c.368 others(965): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(941): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0219 | 1 | 125 | 0.0080 | 948 | c.-49 others(959): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(941): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 213 | 0.0047 | 948 | c.250 others(963): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(941): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 44 | 0.0227 | 948 | c.133 others(967): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(941): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 44 | 0.0227 | 948 | c.133 others(967): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OR6K6_chr1_158749720_158760891 | 158756067 | C | CAACTCTC others(941): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG02559.hp2 HG02572.hp2 others(11): Show |
a0003 | a0003c0003a0003c0014 | a0003c0003t0001a0003c0014t0001 | a0003c0003t0001g0000 a0003c0014t0001g0000 |
14 | 447 | 0.0313 | 948 | c.*22 others(957): Show |
OR6K6 | ENSG00000180433.6 | transcript | ENST00000641861.1 | protein_coding | 177 | chr1 | TogoVar | |||||||
OR6K6_chr1_158749720_158760891 | 158756067 | C | CAACTCTC others(941): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG02922.hp1 HG03453.hp1 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 5 | 438 | 0.0114 | 948 | c.*22 others(957): Show |
OR6K6 | ENSG00000180433.6 | transcript | ENST00000641861.1 | protein_coding | 177 | chr1 | TogoVar | |||||||
OR6K6_chr1_158749720_158760891 | 158756067 | C | CAACTCTC others(941): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0000 | 1 | 434 | 0.0023 | 948 | c.*22 others(957): Show |
OR6K6 | ENSG00000180433.6 | transcript | ENST00000641861.1 | protein_coding | 177 | chr1 | TogoVar | |||||||
OR6K6_chr1_158749720_158760891 | 158756067 | C | CAACTCTC others(941): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0000 | 1 | 434 | 0.0023 | 948 | c.*22 others(957): Show |
OR6K6 | ENSG00000180433.6 | transcript | ENST00000641861.1 | protein_coding | 177 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(941): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 2 | 0.5000 | 948 | c.273 others(963): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6206842 | G | GCAGCCAG others(941): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 348 | 0.0029 | 948 | c.76+ others(963): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(941): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0230 | 1 | 24 | 0.0417 | 948 | c.371 others(965): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2124192 | T | TGTAGTTA others(941): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0141 | 1 | 72 | 0.0139 | 948 | c.335 others(967): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(941): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0259 | 1 | 234 | 0.0043 | 948 | c.126 others(967): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803280 | G | GCCGGGGG others(941): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG03225.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0001 a0001c0006t0001g0035 |
2 | 248 | 0.0081 | 948 | c.-49 others(959): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4667 | chr9 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(941): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0289 | 1 | 195 | 0.0051 | 948 | c.347 others(963): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646443 | C | CCACCTCC others(941): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0174 | 1 | 143 | 0.0070 | 948 | c.-35 others(969): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242899 | C | TTACCTTC others(941): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0118 | 1 | 129 | 0.0078 | 948 | c.613 others(965): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(941): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 10 | 0.1000 | 948 | c.-48 others(959): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(941): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 10 | 0.1000 | 948 | c.-48 others(959): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(941): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0315 | 1 | 8 | 0.1250 | 948 | c.937 others(965): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(941): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0133 | 1 | 46 | 0.0217 | 948 | c.176 others(965): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(941): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0013 | 2 | 202 | 0.0099 | 948 | c.107 others(965): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTATC others(941): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0299 | 1 | 201 | 0.0050 | 948 | c.107 others(965): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTATC others(941): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 201 | 0.0050 | 948 | c.107 others(965): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTATC others(941): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0100 | 1 | 201 | 0.0050 | 948 | c.107 others(965): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168614746 | G | GGCCTCTT others(941): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0062 | 1 | 147 | 0.0068 | 948 | c.907 others(965): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168614746 | G | GGCCTCTT others(941): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03654.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0088 a0001c0002t0002g0067 |
2 | 148 | 0.0135 | 948 | c.907 others(965): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168614746 | G | GGCCTCTT others(941): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02074.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0147 a0001c0002t0002g0010 |
2 | 148 | 0.0135 | 948 | c.907 others(965): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |