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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFCAB13_chr17_47318955_47446312 | 47325026 | C | CCCCCCCC others(278): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0071 | 1 | 356 | 0.0028 | 285 | c.-24 others(302): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238119564 | A | ATGGATGG others(278): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01175.hp1 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0005a0001c0008a0002c0092others(7): Show | a0001c0005t0003a0001c0005t0023a0001c0008t0003others(10): Show | a0001c0005t0003g0197 a0001c0005t0023g0064 a0001c0008t0003g0076 others(16): Show |
19 | 408 | 0.0466 | 285 | c.987 others(302): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113151486 | A | ATGGGAAA others(278): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0326 | 1 | 412 | 0.0024 | 285 | c.*19 others(296): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 1958 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151492 | A | AAAGTGAT others(278): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00738.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 a0001c0002t0001g0053 a0001c0002t0001g0075 others(12): Show |
15 | 412 | 0.0364 | 285 | c.*19 others(296): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 1964 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151492 | A | AAAGTGAT others(278): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 412 | 0.0024 | 285 | c.*19 others(296): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 1964 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151587 | A | AAAGTGAT others(278): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 412 | 0.0024 | 285 | c.*20 others(296): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2059 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151587 | A | AAAGTGAT others(278): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG02027.hp1 HG03927.hp1 others(5): Show |
a0001a0010 | a0001c0002a0010c0012 | a0001c0002t0001a0010c0012t0001 | a0001c0002t0001g0064 a0001c0002t0001g0176 a0001c0002t0001g0209 others(5): Show |
8 | 412 | 0.0194 | 285 | c.*20 others(296): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2059 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151682 | A | AAAGTGAT others(278): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0021 | a0001c0001t0001a0001c0002t0001a0001c0021t0001 | a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0039 others(3): Show |
7 | 412 | 0.0170 | 285 | c.*21 others(296): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2154 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151682 | A | AAAGTGAT others(278): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG02723.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0210 a0001c0002t0001g0035 a0001c0002t0001g0273 others(1): Show |
4 | 412 | 0.0097 | 285 | c.*21 others(296): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2154 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151727 | C | CCCTGAGG others(278): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0362 | 1 | 412 | 0.0024 | 285 | c.*22 others(296): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2199 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113151727 | C | CCCTGAGG others(278): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 NA19066.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0243 a0001c0002t0001g0080 |
2 | 412 | 0.0049 | 285 | c.*22 others(296): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2199 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113154090 | C | CGGGGCGT others(278): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 | 1 | 412 | 0.0024 | 285 | c.*45 others(296): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4562 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113154143 | T | TGGGGGAG others(278): Show |
downstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0348 | 1 | 412 | 0.0024 | 285 | c.*46 others(296): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4615 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113154196 | G | GAGGCGGG others(278): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 412 | 0.0024 | 285 | c.*46 others(296): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4668 | chr13 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113154196 | G | GAGGCGGG others(278): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG01981.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 a0001c0002t0001g0137 |
2 | 412 | 0.0049 | 285 | c.*46 others(296): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4668 | chr13 | TogoVar | |||||||
F13B_chr1_197033741_197072260 | 197042728 | G | GAAGAATC others(278): Show |
intron_variant | MODIFIER | HG01099.hp1 NA18977.hp1 NA19010.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0037 a0001c0001t0001g0156 a0001c0001t0001g0160 others(1): Show |
5 | 342 | 0.0146 | 285 | c.173 others(304): Show |
F13B | ENSG00000143278.5 | transcript | ENST00000367412.2 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(278): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0007 | a0001c0007t0033 | a0001c0007t0033g0213 | 1 | 218 | 0.0046 | 285 | c.-23 others(304): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(278): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 218 | 0.0046 | 285 | c.-23 others(304): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FER1L5_chr2_96637764_96709883 | 96659350 | C | CTTTCTTT others(278): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 | 1 | 226 | 0.0044 | 285 | c.748 others(300): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FIG4_chr6_109686296_109830426 | 109781773 | C | CAGATTTT others(278): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0188 | 1 | 370 | 0.0027 | 285 | c.189 others(304): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361215 | T | TCCACCAC others(278): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0198 | 1 | 230 | 0.0044 | 285 | c.544 others(304): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1317225 | C | CCCTCCCC others(278): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0003 | a0003c0002 | a0003c0002t0024 | a0003c0002t0024g0000 | 1 | 406 | 0.0025 | 285 | c.*33 others(296): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2468 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(278): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00673.hp1 others(43): Show |
a0002a0004a0005 | a0002c0039a0004c0003a0004c0006others(3): Show | a0002c0039t0001a0004c0003t0001a0004c0003t0005others(6): Show | a0002c0039t0001g0000 a0004c0003t0001g0000 a0004c0003t0005g0000 others(6): Show |
46 | 406 | 0.1133 | 285 | c.*33 others(296): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | |||||||
FRMPD4_chrX_12133473_12729523 | 12331801 | T | TTATATAT others(278): Show |
intron_variant | MODIFIER | HG02257.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0012 | a0001c0001t0002g0024 a0002c0003t0012g0117 |
2 | 174 | 0.0115 | 285 | c.42- others(304): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807654 | T | TCCCTCCT others(278): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0115 | 1 | 314 | 0.0032 | 285 | c.*34 others(296): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3368 | chr2 | TogoVar | |||||||
GK_chrX_30648423_30736462 | 30663964 | T | TATATATA others(278): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 286 | 0.0035 | 285 | c.79- others(300): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30663964 | T | TATATATA others(278): Show |
intron_variant | MODIFIER | HG01123.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 a0001c0001t0002g0274 |
2 | 286 | 0.0070 | 285 | c.79- others(300): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30664053 | T | TATCTATA others(278): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0272 | 1 | 286 | 0.0035 | 285 | c.79- others(300): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240623303 | A | ATGAGGGC others(278): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 400 | 0.0025 | 285 | c.-22 others(296): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2176 | chr2 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240623310 | C | TGCAAACA others(278): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0053 | 1 | 400 | 0.0025 | 285 | c.-22 others(296): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2170 | chr2 | TogoVar | |||||||
GRIN1_chr9_137134154_137173756 | 137145192 | T | TGTGGGGA others(278): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0176 | 1 | 298 | 0.0034 | 285 | c.394 others(300): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(278): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0005 | a0005c0011 | a0005c0011t0004 | a0005c0011t0004g0007 | 1 | 268 | 0.0037 | 285 | c.-28 others(296): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106709627 | A | AATATATA others(278): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0002t0031 | a0001c0001t0027g0001 a0001c0002t0031g0196 |
2 | 256 | 0.0078 | 285 | c.183 others(302): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88379742 | A | ATATATAA others(278): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 174 | 0.0058 | 285 | c.199 others(300): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | chr4 | TogoVar | |||||||
HPF1_chr4_169724470_169762944 | 169737913 | T | TGAAAATC others(278): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02109.hp2 HG02132.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0098 a0001c0001t0001g0225 a0001c0004t0002g0055 others(11): Show |
14 | 320 | 0.0438 | 285 | c.649 others(300): Show |
HPF1 | ENSG00000056050.7 | transcript | ENST00000393381.3 | protein_coding | 5/7 | chr4 | TogoVar | |||||||
HTR2B_chr2_231103230_231130042 | 231118124 | T | TAATAGTA others(278): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02723.hp1 others(4): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0001 | a0002c0002t0001g0020 a0002c0002t0001g0058 a0002c0002t0001g0059 others(1): Show |
7 | 416 | 0.0168 | 285 | c.353 others(302): Show |
HTR2B | ENSG00000135914.6 | transcript | ENST00000258400.4 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323559 | A | AATATATA others(278): Show |
upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 323 | 0.0031 | 285 | c.-14 others(296): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1410 | chr21 | TogoVar | |||||||
IQCJ_chr3_159064319_159268747 | 159229754 | C | CCCTCCCC others(278): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 a0001c0001t0001g0236 |
2 | 252 | 0.0079 | 285 | c.10- others(302): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163282 | A | ACAGAACC others(278): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0140 | 1 | 282 | 0.0036 | 285 | c.258 others(302): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(278): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0268 |
2 | 344 | 0.0058 | 285 | c.25- others(300): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(278): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00741.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0143 a0001c0001t0001g0215 a0001c0001t0001g0216 others(12): Show |
15 | 344 | 0.0436 | 285 | c.25- others(300): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(278): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 344 | 0.0029 | 285 | c.25- others(300): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(278): Show |
intron_variant | MODIFIER | HG03669.hp1 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0082 a0002c0002t0001g0083 |
2 | 344 | 0.0058 | 285 | c.25- others(300): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(278): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18968.hp1 NA18988.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0001 | a0001c0001t0002g0281 a0001c0007t0001g0129 a0001c0007t0001g0130 others(1): Show |
4 | 344 | 0.0116 | 285 | c.25- others(300): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086190 | T | TTATATAT others(278): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 402 | 0.0025 | 285 | c.292 others(304): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
IZUMO3_chr9_24537952_24550897 | 24546446 | C | CCTTTTCT others(278): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 426 | 0.0024 | 285 | c.-79 others(294): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 550 | chr9 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 707442 | A | AGCTGCAG others(278): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0018 | a0018c0017 | a0018c0017t0001 | a0018c0017t0001g0082 | 1 | 254 | 0.0039 | 285 | c.38- others(300): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21600517 | T | TAATCCCA others(278): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 80 | 0.0125 | 285 | c.61+ others(304): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758772 | T | TATATATA others(278): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 232 | 0.0043 | 285 | c.-67 others(304): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758772 | T | TATATATA others(278): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0068 | 1 | 232 | 0.0043 | 285 | c.-67 others(304): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |