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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A1_chr13_110143963_110312157 | 110255625 | C | CAAGAAGG others(392): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG03098.hp2 others(1): Show |
a0002a0003 | a0002c0029a0003c0009a0003c0038others(1): Show | a0002c0029t0003a0003c0009t0001a0003c0038t0001others(1): Show | a0002c0029t0003g0228 a0003c0009t0001g0227 a0003c0038t0001g0226 others(1): Show |
4 | 330 | 0.0121 | 399 | c.85- others(416): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(392): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0273 | 1 | 180 | 0.0056 | 399 | c.85- others(416): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9970020 | T | TCTGTAAG others(392): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0057 | a0001c0057t0001 | a0001c0057t0001g0063 a0001c0057t0001g0065 |
2 | 409 | 0.0049 | 399 | c.393 others(415): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587781 | G | GCCCCCCG others(392): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0153 | 1 | 299 | 0.0033 | 399 | c.927 others(414): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240923766 | G | GTCCCCCA others(392): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 211 | 0.0047 | 399 | c.488 others(416): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1297798 | C | CCCTACCC others(392): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 a0001c0001t0003g0149 |
2 | 106 | 0.0189 | 399 | c.810 others(416): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CYP2C19_chr10_94757681_94860547 | 94824979 | C | CATGAACT others(392): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0316 | 1 | 315 | 0.0032 | 399 | c.961 others(416): Show |
CYP2C19 | ENSG00000165841.11 | transcript | ENST00000371321.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238179 | A | AGGGAGGA others(392): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0014 | 1 | 197 | 0.0051 | 399 | c.923 others(418): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251003 | C | CAACACCC others(392): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0015 | 1 | 105 | 0.0095 | 399 | c.207 others(418): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251144 | C | CCCCCCAC others(392): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 112 | 0.0089 | 399 | c.207 others(418): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DENND1B_chr1_197499748_197780480 | 197713911 | T | TTATATAT others(392): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0014 | 1 | 276 | 0.0036 | 399 | c.126 others(416): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 455530 | A | AGTGAGTC others(392): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051 | 1 | 79 | 0.0127 | 399 | c.269 others(418): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 455530 | A | AGTGAGTC others(392): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0054 | 1 | 79 | 0.0127 | 399 | c.269 others(418): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 455553 | G | GCCGTGAG others(392): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 81 | 0.0123 | 399 | c.269 others(418): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 455848 | G | GCAAATGA others(392): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0007 | 1 | 87 | 0.0115 | 399 | c.269 others(418): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 456247 | G | GTAAATGA others(392): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0020 | a0001c0020t0008 | a0001c0020t0008g0074 | 1 | 88 | 0.0114 | 399 | c.269 others(418): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084317 | A | AGTGGTAG others(392): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0185 | 1 | 295 | 0.0034 | 399 | c.126 others(414): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947485 | G | GTGGTGGT others(392): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0016 | a0001c0016t0005 | a0001c0016t0005g0067 | 1 | 132 | 0.0076 | 399 | c.47- others(416): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948076 | G | GTGATGGT others(392): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0048 | 1 | 125 | 0.0080 | 399 | c.47- others(416): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634737 | C | CCCCTTCC others(392): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 189 | 0.0053 | 399 | c.105 others(414): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635180 | C | CCTTTCCT others(392): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 224 | 0.0045 | 399 | c.105 others(414): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716114 | G | GTGGGGGA others(392): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 168 | 0.0060 | 399 | c.86- others(412): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716559 | T | TTGTGGTG others(392): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 166 | 0.0060 | 399 | c.86- others(410): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44876573 | T | TGGGGGTC others(392): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 2 | 0.5000 | 399 | c.976 others(414): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44876573 | T | TGGGGGTC others(392): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18962.hp1 NA18994.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0037 others(2): Show |
5 | 6 | 0.8333 | 399 | c.976 others(414): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44876573 | T | TGGGGGTC others(392): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(195): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0259 others(195): Show |
198 | 199 | 0.9950 | 399 | c.976 others(414): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44876573 | T | TGGGGGTC others(392): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 2 | 0.5000 | 399 | c.976 others(414): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44876573 | T | TGGGGGTC others(392): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 2 | 0.5000 | 399 | c.976 others(414): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44876573 | T | TGGGGGTC others(392): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0098 a0001c0001t0002g0099 others(7): Show |
10 | 11 | 0.9091 | 399 | c.976 others(414): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44876573 | T | TGGGGGTC others(392): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02965.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 |
3 | 4 | 0.7500 | 399 | c.976 others(414): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44876573 | T | TGGGGGTC others(392): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 a0001c0001t0002g0056 |
2 | 3 | 0.6667 | 399 | c.976 others(414): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44876574 | G | GGGGGTCA others(392): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 320 | 0.0031 | 399 | c.976 others(414): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99928121 | G | GGTGGTGG others(392): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0200 | 1 | 285 | 0.0035 | 399 | c.190 others(418): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928135 | T | TGGTGGTG others(392): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0188 | 1 | 274 | 0.0036 | 399 | c.190 others(418): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914629 | G | GTCTCTCC others(392): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 314 | 0.0032 | 399 | c.-13 others(416): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89362159 | C | CCACCTCC others(392): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0012 | 1 | 222 | 0.0045 | 399 | c.544 others(418): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435463 | A | AGGGACGG others(392): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0037 | 1 | 71 | 0.0141 | 399 | c.-16 others(420): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1319737 | A | ATGGTGGC others(392): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0000 | 1 | 341 | 0.0029 | 399 | c.*58 others(410): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4980 | chr6 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46145756 | C | CTTCCCCC others(392): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0013 | 1 | 110 | 0.0091 | 399 | c.109 others(414): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154298737 | A | AAATTGTA others(392): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0123 | 1 | 107 | 0.0093 | 399 | c.976 others(416): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | chr2 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241977 | A | ACCCTTCC others(392): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0124 | 1 | 168 | 0.0060 | 399 | c.107 others(418): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252959 | T | TCACCACC others(392): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0147 | 1 | 240 | 0.0042 | 399 | c.666 others(416): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57249833 | T | TCCCCTTC others(392): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 223 | 0.0045 | 399 | c.972 others(414): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653201 | C | CCCTCCCC others(392): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0288 | 1 | 160 | 0.0063 | 399 | c.427 others(416): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316126 | G | GACACACA others(392): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0070 | 1 | 64 | 0.0156 | 399 | c.487 others(414): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
HERC3_chr4_88587480_88713539 | 88699285 | T | TTCCCCAC others(392): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03688.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0118 a0001c0004t0003g0258 |
2 | 213 | 0.0094 | 399 | c.265 others(418): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC3_chr4_88587480_88713539 | 88699285 | T | TTCCCCAC others(392): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03540.hp2 NA18959.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0003a0001c0004t0010a0001c0005t0003 | a0001c0001t0003g0008 a0001c0001t0003g0202 a0001c0001t0003g0203 others(3): Show |
7 | 218 | 0.0321 | 399 | c.265 others(418): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22818800 | C | CCTTCCTT others(392): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01993.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0316 a0001c0001t0001g0317 |
3 | 85 | 0.0353 | 399 | c.485 others(416): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 105307514 | T | TATATATA others(392): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 134 | 0.0075 | 399 | c.697 others(418): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26805727 | G | GTAAAACT others(392): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0059 | a0001c0059t0002 | a0001c0059t0002g0097 | 1 | 71 | 0.0141 | 399 | c.93- others(416): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 1/56 | chr12 | TogoVar |