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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRSK2_chr11_1384934_1467689 | 1423667 | A | AGCCTCCC others(633): Show |
intron_variant | MODIFIER | HG02735.hp1 HG02735.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0003 | a0001c0001t0006g0236 a0001c0001t0006g0245 a0001c0003t0003g0288 |
3 | 227 | 0.0132 | 640 | c.92- others(657): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1080916 | G | GGTCCCTG others(633): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 207 | 0.0048 | 640 | c.*19 others(651): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 906 | chr1 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(633): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 NA18522.hp1 NA18522.hp2 others(1): Show |
a0002a0004a0008 | a0002c0002a0002c0028a0004c0026others(1): Show | a0002c0002t0033a0002c0028t0099a0004c0026t0003others(1): Show | a0002c0002t0033g0291 a0002c0028t0099g0313 a0004c0026t0003g0229 others(1): Show |
4 | 69 | 0.0580 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(633): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0002 | a0002c0002t0085 | a0002c0002t0085g0259 | 1 | 66 | 0.0152 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(633): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0053 | 1 | 66 | 0.0152 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(633): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 66 | 0.0152 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(633): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0003 | a0003c0023 | a0003c0023t0002 | a0003c0023t0002g0002 | 1 | 66 | 0.0152 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(633): Show |
upstream_gene_variant | MODIFIER | NA18989.hp2 | a0003 | a0003c0023 | a0003c0023t0002 | a0003c0023t0002g0114 | 1 | 66 | 0.0152 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065082 | A | ATAGTATT others(633): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0065 | a0001c0065t0009 | a0001c0065t0009g0283 | 1 | 331 | 0.0030 | 640 | c.-25 others(651): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2217 | chr11 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720832 | T | TCCCCCTT others(633): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 | 1 | 352 | 0.0028 | 640 | c.*69 others(651): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4831 | chr9 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575551 | T | TGTATATA others(633): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0150 | 1 | 369 | 0.0027 | 640 | c.894 others(655): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GGGGCAGG others(633): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG03225.hp2 |
a0001a0002 | a0001c0001a0001c0016a0002c0031 | a0001c0001t0001a0001c0016t0003a0002c0031t0001 | a0001c0001t0001g0082 a0001c0016t0003g0008 a0002c0031t0001g0192 |
3 | 173 | 0.0173 | 640 | c.85- others(657): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(633): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03130.hp1 NA19066.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0027 a0001c0001t0003g0177 |
4 | 277 | 0.0144 | 640 | c.51+ others(655): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932585 | G | GAGAGGAA others(633): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0033 | a0002c0001t0033g0352 | 1 | 339 | 0.0029 | 640 | c.198 others(657): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932825 | G | GAGAGGAA others(633): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0004 | a0001c0004t0077 | a0001c0004t0077g0039 | 1 | 327 | 0.0031 | 640 | c.198 others(657): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933173 | T | TGAGTGAG others(633): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0216 | 1 | 381 | 0.0026 | 640 | c.198 others(657): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933412 | A | ATGAGTGA others(633): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0001 | a0002c0001t0019 | a0002c0001t0019g0188 | 1 | 375 | 0.0027 | 640 | c.198 others(655): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933452 | A | ATGAGTGA others(633): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0001 | a0002c0001t0019 | a0002c0001t0019g0168 | 1 | 380 | 0.0026 | 640 | c.198 others(655): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933932 | A | ATGAGTGA others(633): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0068 | 1 | 370 | 0.0027 | 640 | c.198 others(655): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933972 | A | ATGAGTGA others(633): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0061 | 1 | 356 | 0.0028 | 640 | c.198 others(655): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(633): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0197 | 1 | 97 | 0.0103 | 640 | c.923 others(659): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251147 | C | CCACATCC others(633): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 81 | 0.0123 | 640 | c.207 others(659): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(633): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0086 | a0086c0075 | a0086c0075t0001 | a0086c0075t0001g0011 | 1 | 98 | 0.0102 | 640 | c.118 others(659): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89635026 | C | CCTTTCTT others(633): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 248 | 0.0040 | 640 | c.105 others(655): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635035 | C | CCCTTTCC others(633): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 160 | 0.0063 | 640 | c.105 others(655): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377567 | T | TGTGTTCT others(633): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0023 | 1 | 271 | 0.0037 | 640 | c.215 others(657): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377637 | C | CTGTGAAT others(633): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 | 1 | 371 | 0.0027 | 640 | c.215 others(657): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377685 | C | CCTGGGAA others(633): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 291 | 0.0034 | 640 | c.215 others(657): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377693 | G | GCCGTGTT others(633): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 286 | 0.0035 | 640 | c.215 others(657): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378076 | T | TGTGTTGT others(633): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0263 | 1 | 214 | 0.0047 | 640 | c.215 others(657): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315172 | C | CCACCATC others(633): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0247 | 1 | 144 | 0.0069 | 640 | c.259 others(659): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328861 | G | GTCACACG others(633): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0037 | 1 | 56 | 0.0179 | 640 | c.199 others(659): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137329218 | C | CTACACAG others(633): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 77 | 0.0130 | 640 | c.199 others(659): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(633): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01891.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0002t0001g0006 |
12 | 134 | 0.0896 | 640 | c.*64 others(649): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | |||||||
FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(633): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02809.hp1 others(13): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0005t0001a0001c0007t0001 | a0001c0001t0001g0001 a0001c0005t0001g0010 a0001c0005t0001g0028 others(2): Show |
16 | 138 | 0.1159 | 640 | c.*64 others(649): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824415 | C | CGCGCGGT others(633): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0103 | 1 | 79 | 0.0127 | 640 | c.147 others(657): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GET4_chr7_871554_901436 | 889783 | C | CCTGGGAG others(633): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0150 | 1 | 348 | 0.0029 | 640 | c.467 others(657): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132793731 | G | GGGACCCG others(633): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0014 | a0014c0016 | a0014c0016t0019 | a0014c0016t0019g0055 | 1 | 306 | 0.0033 | 640 | c.246 others(659): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 11/23 | chr12 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53074115 | T | TATATATA others(633): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 NA18612.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0005 | a0001c0003t0002g0032 a0001c0003t0002g0039 a0001c0003t0002g0041 others(1): Show |
4 | 172 | 0.0233 | 640 | c.-97 others(657): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53074425 | T | TATATATT others(633): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 85 | 0.0118 | 640 | c.-97 others(657): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11618136 | C | CACTCCTG others(633): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0012 | a0002c0012t0024 | a0002c0012t0024g0129 | 1 | 82 | 0.0122 | 640 | c.341 others(655): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IL17RA_chr22_17080000_17120693 | 17103923 | A | AGAGGGGA others(633): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01099.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0024a0002c0003t0050a0002c0003t0065others(2): Show | a0002c0003t0024g0180 a0002c0003t0024g0182 a0002c0003t0024g0315 others(4): Show |
7 | 352 | 0.0199 | 640 | c.846 others(655): Show |
IL17RA | ENSG00000177663.15 | transcript | ENST00000319363.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3066910 | C | CGGCCCAC others(633): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0363 | 1 | 391 | 0.0026 | 640 | c.16- others(653): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(633): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02922.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004 | a0002c0002t0003g0209 a0002c0002t0004g0144 |
2 | 75 | 0.0267 | 640 | c.199 others(657): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(633): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(6): Show | a0001c0001t0001g0105 a0001c0001t0002g0173 a0001c0001t0002g0228 others(12): Show |
15 | 88 | 0.1705 | 640 | c.199 others(657): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(633): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0149 a0001c0001t0009g0182 a0001c0001t0009g0245 others(1): Show |
4 | 77 | 0.0519 | 640 | c.199 others(657): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(633): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00639.hp1 others(38): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0077 a0001c0001t0001g0100 a0001c0001t0001g0102 others(38): Show |
41 | 114 | 0.3596 | 640 | c.199 others(657): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163304 | C | CCCTCCCT others(633): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0051 | 1 | 113 | 0.0088 | 640 | c.258 others(657): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(633): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0014 | 1 | 5 | 0.2000 | 640 | c.-46 others(651): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(633): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0012 | 2 | 6 | 0.3333 | 640 | c.-46 others(651): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar |