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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC183_chr9_136791338_136812741 | 136802779 | A | AGGTCAAG others(1625): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0013 | a0013c0016 | a0013c0016t0002 | a0013c0016t0002g0082 | 1 | 398 | 0.0025 | 1632 | c.666 others(1647): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(1625): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0105 | 1 | 398 | 0.0025 | 1632 | c.666 others(1647): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CUL2_chr10_35003551_35095341 | 35049922 | A | AGAAAACA others(1625): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0230 a0001c0005t0001g0279 |
2 | 300 | 0.0067 | 1632 | c.424 others(1647): Show |
CUL2 | ENSG00000108094.17 | transcript | ENST00000374749.8 | protein_coding | 5/20 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 477345 | A | AGGGGGAG others(1625): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0009 | 1 | 88 | 0.0114 | 1632 | c.158 others(1649): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
FAM240C_chr2_241888988_241905464 | 241896503 | G | GGGGTGTG others(1625): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 37 | 0.0270 | 1632 | c.161 others(1647): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
GRM4_chr6_34013643_34151087 | 34071577 | C | CACATCAC others(1625): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0184 | 1 | 282 | 0.0036 | 1632 | c.737 others(1649): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399426 | A | ACCGCCAC others(1625): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 314 | 0.0032 | 1632 | c.-25 others(1649): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1625): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0110 | 1 | 292 | 0.0034 | 1632 | c.218 others(1647): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(1625): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0004 | a0004c0004 | a0004c0004t0007 | a0004c0004t0007g0099 | 1 | 292 | 0.0034 | 1632 | c.377 others(1649): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195783262 | T | TCGGTGAC others(1625): Show |
conservative_inframe_insertion | MODERATE | HG03130.hp2 | a0102 | a0102c0196 | a0102c0196t0012 | a0102c0196t0012g0239 | 1 | 249 | 0.0040 | 1632 | c.831 others(1641): Show |
p.Asn others(1645): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8429/16756 | 8317/16239 | 2773/5412 | chr3 | TogoVar | |||
PAK2_chr3_196734857_196837647 | 196811201 | C | CCCTTCCC others(1625): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0089 | 1 | 178 | 0.0056 | 1632 | c.773 others(1647): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(1625): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0024 | a0024c0058 | a0024c0058t0001 | a0024c0058t0001g0027 | 1 | 188 | 0.0053 | 1632 | c.147 others(1649): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397617 | A | AGGGGGCC others(1625): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0199 | 1 | 340 | 0.0029 | 1632 | c.227 others(1649): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1625): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0273 | 1 | 370 | 0.0027 | 1632 | c.438 others(1649): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1625): Show |
intron_variant | MODIFIER | NA18964.hp1 NA19088.hp2 NA20300.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0002a0001c0005t0002 | a0001c0003t0002g0331 a0001c0005t0002g0240 a0001c0005t0002g0246 |
3 | 376 | 0.0080 | 1632 | c.141 others(1649): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1625): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02735.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0223 a0001c0003t0002g0239 |
2 | 376 | 0.0053 | 1632 | c.141 others(1649): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1625): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0006 | 1 | 376 | 0.0027 | 1632 | c.141 others(1649): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347392 | T | TGGACCTG others(1625): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0107 | 1 | 198 | 0.0051 | 1632 | c.204 others(1653): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347392 | T | TGGACCTG others(1625): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0175 | 1 | 198 | 0.0051 | 1632 | c.204 others(1653): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347392 | T | TGGACCTG others(1625): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0023 | a0023c0031 | a0023c0031t0001 | a0023c0031t0001g0039 | 1 | 198 | 0.0051 | 1632 | c.204 others(1653): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347392 | T | TGGACCTG others(1625): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0189 | 1 | 198 | 0.0051 | 1632 | c.204 others(1653): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347392 | T | TGGACCTG others(1625): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0008 | 1 | 198 | 0.0051 | 1632 | c.204 others(1653): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347392 | T | TGGACCTG others(1625): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02809.hp2 others(3): Show |
a0001a0016 | a0001c0004a0016c0029 | a0001c0004t0001a0016c0029t0006 | a0001c0004t0001g0106 a0001c0004t0001g0108 a0001c0004t0001g0111 others(3): Show |
6 | 198 | 0.0303 | 1632 | c.204 others(1653): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29063614 | C | CGGGGAGT others(1626): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02258.hp1 others(8): Show |
a0002 | a0002c0002a0002c0003a0002c0012 | a0002c0002t0003a0002c0002t0006a0002c0002t0008others(6): Show | a0002c0002t0003g0193 a0002c0002t0006g0098 a0002c0002t0006g0161 others(8): Show |
11 | 204 | 0.0539 | 1633 | c.951 others(1650): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(1626): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 338 | 0.0030 | 1633 | c.300 others(1650): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1626): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 | 1 | 58 | 0.0172 | 1633 | c.510 others(1652): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(1626): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01168.hp2 HG01346.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0169 a0001c0001t0001g0170 |
4 | 370 | 0.0108 | 1633 | c.891 others(1648): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CUL2_chr10_35003551_35095341 | 35049922 | A | AGAAAACA others(1626): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0229 | 1 | 300 | 0.0033 | 1633 | c.424 others(1648): Show |
CUL2 | ENSG00000108094.17 | transcript | ENST00000374749.8 | protein_coding | 5/20 | chr10 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251277 | C | CACATCCC others(1626): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 116 | 0.0086 | 1633 | c.207 others(1652): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1626): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0089 | 1 | 168 | 0.0060 | 1633 | c.338 others(1652): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(1626): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0089 | a0089c0085 | a0089c0085t0001 | a0089c0085t0001g0157 | 1 | 186 | 0.0054 | 1633 | c.956 others(1650): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859649 | C | CAGTGGTG others(1626): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0026 | a0004c0026t0001 | a0004c0026t0001g0127 | 1 | 294 | 0.0034 | 1633 | c.153 others(1652): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1626): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 292 | 0.0034 | 1633 | c.218 others(1648): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585280 | C | CCTTTCCA others(1626): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0013 | a0013c0022 | a0013c0022t0008 | a0013c0022t0008g0123 | 1 | 279 | 0.0036 | 1633 | c.215 others(1650): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1626): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 376 | 0.0027 | 1633 | c.141 others(1650): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1626): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01517.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0224 a0001c0003t0002g0242 a0001c0003t0002g0244 |
3 | 376 | 0.0080 | 1633 | c.141 others(1650): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1626): Show |
intron_variant | MODIFIER | NA19012.hp2 NA19062.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0247 a0001c0005t0002g0250 |
2 | 376 | 0.0053 | 1633 | c.141 others(1650): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1626): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 322 | 0.0031 | 1633 | c.-93 others(1650): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(1626): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0087 a0003c0001t0001g0088 |
2 | 280 | 0.0071 | 1633 | c.89- others(1646): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1626): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0149 | 1 | 340 | 0.0029 | 1633 | c.-27 others(1642): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1626): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 228 | 0.0044 | 1633 | c.127 others(1650): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1626): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01192.hp2 NA18999.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 a0002c0002t0001g0027 a0002c0002t0001g0029 others(3): Show |
6 | 228 | 0.0263 | 1633 | c.127 others(1650): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1626): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0228 | 1 | 228 | 0.0044 | 1633 | c.127 others(1650): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1626): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 228 | 0.0044 | 1633 | c.127 others(1650): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1627): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 334 | 0.0030 | 1634 | c.147 others(1651): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939826 | G | GAAAAAGA others(1627): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0191 | 1 | 258 | 0.0039 | 1634 | c.403 others(1649): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1627): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01256.hp1 HG01358.hp2 others(8): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0005a0001c0001t0028a0001c0001t0029others(1): Show | a0001c0001t0005g0121 a0001c0001t0005g0250 a0001c0001t0005g0251 others(8): Show |
11 | 290 | 0.0379 | 1634 | c.162 others(1653): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706329 | G | GATAGATA others(1627): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0004 | a0004c0006 | a0004c0006t0008 | a0004c0006t0008g0361 | 1 | 369 | 0.0027 | 1634 | c.-50 others(1645): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4871 | chr4 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322237 | T | TATATATG others(1627): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 323 | 0.0031 | 1634 | c.-28 others(1645): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2732 | chr21 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322961 | C | CACATATT others(1627): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0028 | 1 | 242 | 0.0041 | 1634 | c.174 others(1653): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |