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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(902): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0129 | 1 | 341 | 0.0029 | 909 | c.-6- others(924): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(902): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0130 | 1 | 341 | 0.0029 | 909 | c.-6- others(924): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(902): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0154 | 1 | 341 | 0.0029 | 909 | c.-6- others(924): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(902): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0162 | 1 | 341 | 0.0029 | 909 | c.-6- others(924): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(902): Show |
intron_variant | MODIFIER | HG00408.hp2 NA19003.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0134 a0002c0002t0003g0135 |
2 | 342 | 0.0058 | 909 | c.-6- others(924): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370270 | T | TGTGTGTG others(902): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0199 | 1 | 455 | 0.0022 | 909 | c.-6- others(924): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(902): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 2 | 0.5000 | 909 | c.*53 others(920): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(903): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0001 | a0002c0001t0056 | a0002c0001t0056g0146 | 1 | 25 | 0.0400 | 910 | c.259 others(931): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(903): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0025 | a0001c0025t0002 | a0001c0025t0002g0198 | 1 | 3 | 0.3333 | 910 | c.267 others(929): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(903): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 7 | 0.1429 | 910 | c.775 others(925): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(903): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0175 | 1 | 7 | 0.1429 | 910 | c.775 others(925): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(903): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0242 | 1 | 74 | 0.0135 | 910 | c.-48 others(927): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(903): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0169 | 1 | 74 | 0.0135 | 910 | c.-48 others(927): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(903): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02615.hp2 HG02622.hp2 others(1): Show |
a0001a0004 | a0001c0002a0001c0045a0004c0038 | a0001c0002t0001a0001c0045t0012a0004c0038t0019 | a0001c0002t0001g0189 a0001c0002t0001g0244 a0001c0045t0012g0181 others(1): Show |
4 | 77 | 0.0519 | 910 | c.-48 others(927): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(903): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00738.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0019a0001c0002t0012a0001c0002t0020others(6): Show | a0001c0001t0019g0245 a0001c0002t0012g0190 a0001c0002t0020g0264 others(7): Show |
10 | 83 | 0.1205 | 910 | c.-48 others(927): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(903): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00673.hp2 others(91): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(47): Show | a0001c0001t0002a0001c0001t0014a0001c0002t0001others(55): Show | a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0215 others(91): Show |
94 | 167 | 0.5629 | 910 | c.-48 others(927): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(903): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0340 | 1 | 74 | 0.0135 | 910 | c.-48 others(927): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293507 | G | GGTCCACC others(903): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0014 | a0014c0035 | a0014c0035t0001 | a0014c0035t0001g0073 | 1 | 175 | 0.0057 | 910 | c.411 others(927): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132822265 | G | GTGAGTGC others(903): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0130 | 1 | 134 | 0.0075 | 910 | c.711 others(929): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(903): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(1): Show |
4 | 19 | 0.2105 | 910 | c.164 others(929): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642858 | T | TGGTGATG others(903): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 318 | 0.0031 | 910 | c.937 others(925): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587781 | G | GCCCCCCG others(903): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 299 | 0.0033 | 910 | c.927 others(925): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19461746 | C | CCACATTC others(903): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0016 | 1 | 155 | 0.0065 | 910 | c.635 others(927): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19461746 | C | CCACATTC others(903): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 155 | 0.0065 | 910 | c.635 others(927): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(903): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0042 | 1 | 78 | 0.0128 | 910 | c.183 others(929): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(903): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0114 | 1 | 78 | 0.0128 | 910 | c.183 others(929): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
EPHA8_chr1_22558489_22608595 | 22599827 | G | GAAGGGGA others(903): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0169 | 1 | 3 | 0.3333 | 910 | c.238 others(927): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(903): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0061 | 1 | 96 | 0.0104 | 910 | c.119 others(929): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(903): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(119): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(72): Show |
122 | 137 | 0.8905 | 910 | c.-27 others(921): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | |||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(903): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 NA18989.hp2 NA19070.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0044 a0001c0001t0009g0148 a0001c0001t0009g0162 |
4 | 19 | 0.2105 | 910 | c.-27 others(921): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | |||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(903): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(118): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0201 a0001c0001t0004g0001 a0001c0001t0004g0018 others(62): Show |
121 | 136 | 0.8897 | 910 | c.-27 others(921): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | |||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(903): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0132 | 1 | 16 | 0.0625 | 910 | c.-27 others(921): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | |||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(903): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 2 | 17 | 0.1176 | 910 | c.-27 others(921): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | |||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(903): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0053 others(11): Show |
36 | 51 | 0.7059 | 910 | c.-27 others(921): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | |||||||
HIC1_chr17_2050103_2068241 | 2052377 | T | TGCCTGGG others(903): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 | 1 | 366 | 0.0027 | 910 | c.-28 others(921): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 2725 | chr17 | TogoVar | |||||||
HIC1_chr17_2050103_2068241 | 2052377 | T | TGCCTGGG others(903): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0004 | 1 | 366 | 0.0027 | 910 | c.-28 others(921): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 2725 | chr17 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(903): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0128 | 1 | 124 | 0.0081 | 910 | c.*65 others(921): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632693 | G | GCCTCCTT others(903): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0111 | 1 | 100 | 0.0100 | 910 | c.56- others(927): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(903): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0213 | 1 | 207 | 0.0048 | 910 | c.126 others(927): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(903): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0221 | 1 | 207 | 0.0048 | 910 | c.126 others(927): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858987 | G | GAGTGGTG others(903): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0074 | 1 | 243 | 0.0041 | 910 | c.153 others(929): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(903): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 1 | 348 | 0.0029 | 910 | c.-29 others(921): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(903): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 125 | 0.0080 | 910 | c.-49 others(921): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370338 | G | GCTACCCC others(903): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0055 | 1 | 353 | 0.0028 | 910 | c.-7- others(923): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(903): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 242 | 0.0041 | 910 | c.-5+ others(925): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668100 | T | TCCTTACC others(903): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 161 | 0.0062 | 910 | c.148 others(929): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(903): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0105 | 1 | 283 | 0.0035 | 910 | c.141 others(927): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(903): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03834.hp2 NA18970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0002t0002g0173 |
3 | 4 | 0.7500 | 910 | c.734 others(927): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(903): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18981.hp2 NA19001.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0312 a0001c0001t0003g0315 a0001c0001t0003g0318 others(2): Show |
5 | 6 | 0.8333 | 910 | c.734 others(927): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(903): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 2 | 0.5000 | 910 | c.734 others(927): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar |