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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(1818): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0042 | 1 | 294 | 0.0034 | 1825 | c.147 others(1842): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(1818): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0044 | 1 | 294 | 0.0034 | 1825 | c.147 others(1842): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGCGT others(1818): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02630.hp1 others(3): Show |
a0001a0011a0013 | a0001c0023a0011c0029a0013c0030 | a0001c0023t0002a0011c0029t0001a0013c0030t0001 | a0001c0023t0002g0203 a0001c0023t0002g0205 a0001c0023t0002g0206 others(3): Show |
6 | 165 | 0.0364 | 1825 | c.198 others(1842): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGCGT others(1818): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03225.hp2 NA20300.hp1 |
a0014a0038 | a0014c0036a0038c0069 | a0014c0036t0002a0038c0069t0002 | a0014c0036t0002g0235 a0014c0036t0002g0262 a0038c0069t0002g0236 |
3 | 162 | 0.0185 | 1825 | c.198 others(1842): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471294 | A | AATACATG others(1818): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0138 | 1 | 142 | 0.0070 | 1825 | c.183 others(1844): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948076 | G | GTGGTGAT others(1818): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0084 | 1 | 125 | 0.0080 | 1825 | c.47- others(1842): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711831 | C | CATCCCTA others(1818): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 251 | 0.0040 | 1825 | c.635 others(1844): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1818): Show |
intron_variant | MODIFIER | HG02258.hp2 NA21309.hp2 |
a0005a0043 | a0005c0051a0043c0062 | a0005c0051t0001a0043c0062t0001 | a0005c0051t0001g0303 a0043c0062t0001g0084 |
2 | 13 | 0.1538 | 1825 | c.228 others(1842): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1818): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG02738.hp1 others(1): Show |
a0003a0005a0007 | a0003c0025a0005c0017a0007c0011 | a0003c0025t0001a0005c0017t0001a0007c0011t0001 | a0003c0025t0001g0327 a0003c0025t0001g0329 a0005c0017t0001g0312 others(1): Show |
4 | 15 | 0.2667 | 1825 | c.228 others(1842): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1818): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02145.hp1 HG02451.hp1 others(6): Show |
a0001a0005 | a0001c0005a0001c0071a0005c0017 | a0001c0005t0001a0001c0071t0001a0005c0017t0001 | a0001c0005t0001g0015 a0001c0005t0001g0138 a0001c0005t0001g0255 others(5): Show |
9 | 20 | 0.4500 | 1825 | c.228 others(1842): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1818): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0008 | a0008c0113 | a0008c0113t0001 | a0008c0113t0001g0145 | 1 | 12 | 0.0833 | 1825 | c.228 others(1842): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCTGCCCA others(1818): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02976.hp1 HG03130.hp2 others(1): Show |
a0001a0005 | a0001c0018a0001c0020a0005c0017 | a0001c0018t0001a0001c0020t0001a0005c0017t0001 | a0001c0018t0001g0311 a0001c0018t0001g0317 a0001c0020t0001g0310 others(1): Show |
4 | 15 | 0.2667 | 1825 | c.228 others(1842): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ACTATATA others(1818): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 278 | 0.0036 | 1825 | c.-15 others(1836): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | |||||||
SLC22A3_chr6_160343378_160457577 | 160456788 | G | GTGGTAGT others(1818): Show |
downstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0103 | 1 | 2 | 0.5000 | 1825 | c.*57 others(1836): Show |
SLC22A3 | ENSG00000146477.6 | transcript | ENST00000275300.3 | protein_coding | 4212 | chr6 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(1818): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317 | 1 | 208 | 0.0048 | 1825 | c.115 others(1842): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(1818): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0302 | 1 | 208 | 0.0048 | 1825 | c.115 others(1842): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(1818): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 208 | 0.0048 | 1825 | c.115 others(1842): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SNED1_chr2_240993618_241100568 | 241024652 | C | CTTATTTT others(1818): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0275 | 1 | 95 | 0.0105 | 1825 | c.214 others(1842): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1818): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 146 | 0.0068 | 1825 | c.114 others(1842): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1818): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0008 | 1 | 21 | 0.0476 | 1825 | c.127 others(1842): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419071 | C | CCTCCCTC others(1819): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0041 | 1 | 255 | 0.0039 | 1826 | c.106 others(1845): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(1819): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 243 | 0.0041 | 1826 | c.666 others(1841): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1819): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 30 | 0.0333 | 1826 | c.445 others(1841): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1819): Show |
intron_variant | MODIFIER | HG02615.hp1 NA19043.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0002c0002t0003 | a0001c0001t0013g0184 a0002c0002t0003g0181 a0002c0002t0003g0182 |
3 | 5 | 0.6000 | 1826 | c.-12 others(1845): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1819): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085 | 1 | 3 | 0.3333 | 1826 | c.-12 others(1845): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MPG_chr16_73225_90846 | 82032 | G | GCCCCTTC others(1819): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 313 | 0.0032 | 1826 | c.301 others(1841): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439008 | C | CAGAGGGA others(1819): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00673.hp2 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0009a0001c0021others(23): Show | a0001c0003t0012a0001c0003t0016a0001c0009t0002others(31): Show | a0001c0003t0012g0070 a0001c0003t0016g0021 a0001c0009t0002g0081 others(33): Show |
36 | 217 | 0.1659 | 1826 | c.816 others(1843): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439008 | C | CAGAGGGA others(1819): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0068 | a0005c0068t0017 | a0005c0068t0017g0048 | 1 | 182 | 0.0055 | 1826 | c.816 others(1843): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ATATATAG others(1819): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 2 | 279 | 0.0072 | 1826 | c.-15 others(1837): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1819): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0021 | a0021c0054 | a0021c0054t0001 | a0021c0054t0001g0177 | 1 | 82 | 0.0122 | 1826 | c.147 others(1843): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492490 | C | CCGGGGAG others(1819): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0139 | 1 | 250 | 0.0040 | 1826 | c.126 others(1845): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1819): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 217 | 0.0046 | 1826 | c.-93 others(1843): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCGTGCAC others(1819): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0043 | 1 | 149 | 0.0067 | 1826 | c.129 others(1843): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693708 | A | ACCTCCAC others(1820): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 224 | 0.0045 | 1827 | c.*67 others(1838): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4938 | chr20 | TogoVar | |||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGCGT others(1820): Show |
intron_variant | MODIFIER | HG02300.hp2 HG02738.hp1 HG03942.hp1 others(1): Show |
a0001 | a0001c0008a0001c0022 | a0001c0008t0004a0001c0022t0004 | a0001c0008t0004g0062 a0001c0022t0004g0202 a0001c0022t0004g0209 others(1): Show |
4 | 163 | 0.0245 | 1827 | c.198 others(1844): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716248 | G | GTGTCATG others(1820): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 87 | 0.0115 | 1827 | c.86- others(1840): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716505 | G | GGTGGTGT others(1820): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 156 | 0.0064 | 1827 | c.86- others(1838): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1820): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18522.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009 | a0001c0001t0002g0165 a0001c0001t0004g0166 a0001c0001t0009g0162 |
3 | 5 | 0.6000 | 1827 | c.-12 others(1846): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MUC12_chr7_100964565_101023936 | 100997802 | T | TCAACCAG others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp2 | a0081 | a0081c0043 | a0081c0043t0001 | a0081c0043t0001g0210 | 1 | 340 | 0.0029 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | NA18995.hp2 | a0129 | a0129c0204 | a0129c0204t0001 | a0129c0204t0001g0001 | 1 | 16 | 0.0625 | 1827 | c.728 others(1836): Show |
p.Thr others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7345/16366 | 7287/16008 | 2429/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG01099.hp1 HG01192.hp1 HG01433.hp1 others(3): Show |
a0003a0068 | a0003c0001a0003c0212a0068c0230 | a0003c0001t0001a0003c0212t0001a0068c0230t0001 | a0003c0001t0001g0001 a0003c0001t0001g0002 a0003c0001t0001g0051 others(2): Show |
6 | 21 | 0.2857 | 1827 | c.728 others(1836): Show |
p.Thr others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7345/16366 | 7287/16008 | 2429/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG04184.hp1 NA20752.hp1 |
a0009a0042 | a0009c0205a0009c0207a0042c0201 | a0009c0205t0001a0009c0207t0001a0042c0201t0001 | a0009c0205t0001g0175 a0009c0207t0001g0185 a0042c0201t0001g0223 |
3 | 18 | 0.1667 | 1827 | c.728 others(1836): Show |
p.Thr others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7345/16366 | 7287/16008 | 2429/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | NA18983.hp2 | a0125 | a0125c0213 | a0125c0213t0001 | a0125c0213t0001g0001 | 1 | 16 | 0.0625 | 1827 | c.728 others(1836): Show |
p.Thr others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7345/16366 | 7287/16008 | 2429/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG00558.hp2 HG01123.hp2 HG01168.hp1 others(34): Show |
a0003a0006a0009others(11): Show | a0003c0001a0003c0216a0003c0222others(18): Show | a0003c0001t0001a0003c0001t0004a0003c0216t0001others(19): Show | a0003c0001t0001g0001 a0003c0001t0001g0044 a0003c0001t0001g0048 others(31): Show |
37 | 52 | 0.7115 | 1827 | c.728 others(1836): Show |
p.Thr others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7345/16366 | 7287/16008 | 2429/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG01109.hp2 HG02559.hp1 HG02717.hp2 others(6): Show |
a0014a0033a0053others(2): Show | a0014c0062a0014c0063a0014c0064others(5): Show | a0014c0062t0001a0014c0063t0001a0014c0064t0001others(5): Show | a0014c0062t0001g0167 a0014c0063t0001g0162 a0014c0064t0001g0160 others(6): Show |
9 | 24 | 0.3750 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG04199.hp2 | a0116 | a0116c0066 | a0116c0066t0001 | a0116c0066t0001g0161 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02976.hp2 | a0097 | a0097c0067 | a0097c0067t0001 | a0097c0067t0001g0082 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02280.hp1 HG02647.hp1 HG03239.hp2 |
a0082a0087a0102 | a0082c0074a0087c0073a0102c0052 | a0082c0074t0001a0087c0073t0001a0102c0052t0001 | a0082c0074t0001g0147 a0087c0073t0001g0159 a0102c0052t0001g0263 |
3 | 18 | 0.1667 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG00673.hp1 | a0047 | a0047c0054 | a0047c0054t0001 | a0047c0054t0001g0133 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG01106.hp1 HG01515.hp2 HG01978.hp2 others(6): Show |
a0018a0027a0037others(3): Show | a0018c0016a0018c0058a0027c0055others(5): Show | a0018c0016t0001a0018c0058t0001a0027c0055t0001others(5): Show | a0018c0016t0001g0264 a0018c0016t0001g0265 a0018c0058t0001g0268 others(6): Show |
9 | 24 | 0.3750 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |