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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADARB2_chr10_1172313_1742525 | 1464707 | C | CGCTGGAG others(457): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 106 | 0.0094 | 464 | c.101 others(483): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(457): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0072 | a0001c0002t0072g0018 | 1 | 169 | 0.0059 | 464 | c.48- others(481): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15406286 | G | GTGTGTAT others(457): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0141 | 1 | 236 | 0.0042 | 464 | c.610 others(483): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 5/12 | chr7 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729596 | A | AAGGTGAG others(457): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 350 | 0.0029 | 464 | c.248 others(479): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
APOOL_chrX_84998877_85098315 | 85088046 | G | GTATTAAT others(457): Show |
3_prime_UTR_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0044 | 1 | 256 | 0.0039 | 464 | c.*37 others(473): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 373 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARHGAP39_chr8_144524179_144690846 | 144687797 | C | CGTGACCA others(457): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0067 | 1 | 246 | 0.0041 | 464 | c.-21 others(475): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1952 | chr8 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1839476 | T | TGGTGTGG others(457): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0018 | a0001c0018t0025 | a0001c0018t0025g0296 | 1 | 363 | 0.0028 | 464 | c.-47 others(481): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF38_chr4_105547620_105685914 | 105586231 | T | TAAGAAAT others(457): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0018 | 1 | 186 | 0.0054 | 464 | c.197 others(481): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758544 | C | TCACCTGC others(457): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 300 | 0.0033 | 464 | c.655 others(483): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 374880 | G | GAGGGAGG others(457): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127 | 1 | 184 | 0.0054 | 464 | c.784 others(479): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 279033 | C | CGGGACGG others(457): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0283 |
2 | 410 | 0.0049 | 464 | c.465 others(479): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585358 | G | GAGGAGGG others(457): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0280 | 1 | 354 | 0.0028 | 464 | c.-22 others(481): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585467 | T | TGAGGGAG others(457): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 354 | 0.0028 | 464 | c.-22 others(481): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(457): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 338 | 0.0030 | 464 | c.300 others(481): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(457): Show |
intron_variant | MODIFIER | HG02735.hp1 NA18944.hp2 NA18967.hp1 others(2): Show |
a0001a0057 | a0001c0001a0057c0097 | a0001c0001t0001a0001c0001t0002a0057c0097t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(2): Show |
5 | 338 | 0.0148 | 464 | c.300 others(481): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(457): Show |
intron_variant | MODIFIER | HG00639.hp2 NA18943.hp2 NA19065.hp2 |
a0002a0012a0071 | a0002c0057a0012c0036a0071c0100 | a0002c0057t0002a0012c0036t0001a0071c0100t0002 | a0002c0057t0002g0100 a0012c0036t0001g0035 a0071c0100t0002g0089 |
3 | 338 | 0.0089 | 464 | c.300 others(481): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(457): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19011.hp1 NA19080.hp2 |
a0001 | a0001c0001a0001c0103 | a0001c0001t0015a0001c0001t0024a0001c0103t0001 | a0001c0001t0015g0116 a0001c0001t0024g0106 a0001c0103t0001g0077 |
3 | 338 | 0.0089 | 464 | c.300 others(481): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1204872 | G | GCCCAGAT others(457): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02738.hp1 |
a0040a0059 | a0040c0123a0059c0124 | a0040c0123t0001a0059c0124t0037 | a0040c0123t0001g0313 a0059c0124t0037g0067 |
2 | 338 | 0.0059 | 464 | c.245 others(481): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1204914 | C | CCCCAGAT others(457): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0018 | a0018c0027 | a0018c0027t0001 | a0018c0027t0001g0165 | 1 | 338 | 0.0030 | 464 | c.245 others(481): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(457): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0149 | 1 | 334 | 0.0030 | 464 | c.-25 others(475): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(457): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0001 | 1 | 334 | 0.0030 | 464 | c.-25 others(475): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(457): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0284 | 1 | 334 | 0.0030 | 464 | c.-25 others(475): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(457): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0069 | 1 | 334 | 0.0030 | 464 | c.-25 others(475): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CELF2_chr10_11012872_11341675 | 11107986 | A | ACTTCCCT others(457): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0117 | 1 | 194 | 0.0052 | 464 | c.75- others(481): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881852 | C | CTATATAG others(457): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0012 | 1 | 440 | 0.0023 | 464 | c.*13 others(475): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 426 | chr13 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(457): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0003 | 1 | 354 | 0.0028 | 464 | c.*69 others(475): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20296130 | C | CCTTCCCT others(457): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0012 | a0012c0018 | a0012c0018t0003 | a0012c0018t0003g0122 | 1 | 236 | 0.0042 | 464 | c.321 others(483): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1329661 | C | CTGGTGGA others(457): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 370 | 0.0027 | 464 | c.108 others(481): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19202514 | A | ATCACGGC others(457): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03710.hp2 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0008a0002c0001t0002 | a0001c0003t0008g0329 a0002c0001t0002g0206 |
2 | 346 | 0.0058 | 464 | c.360 others(483): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(457): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18946.hp1 |
a0001 | a0001c0005 | a0001c0005t0023 | a0001c0005t0023g0189 a0001c0005t0023g0190 |
2 | 270 | 0.0074 | 464 | c.162 others(485): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(457): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0115 | 1 | 270 | 0.0037 | 464 | c.162 others(485): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(457): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0018 | a0001c0001t0012g0087 a0001c0001t0018g0091 |
2 | 270 | 0.0074 | 464 | c.162 others(485): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098162 | T | TATATATA others(457): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 HG01978.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0096 a0001c0001t0005g0135 a0001c0001t0005g0156 others(13): Show |
16 | 264 | 0.0606 | 464 | c.181 others(483): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1284603 | T | TTTTTTTT others(457): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0020 | a0003c0020t0005 | a0003c0020t0005g0129 | 1 | 159 | 0.0063 | 464 | c.77- others(479): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1284626 | C | CGAGATCT others(457): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 159 | 0.0063 | 464 | c.77- others(479): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1284661 | T | TTTTTTTT others(457): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(28): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0047 others(28): Show |
31 | 159 | 0.1950 | 464 | c.77- others(479): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1284704 | T | TCCCAGGC others(457): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02622.hp2 HG02630.hp2 others(4): Show |
a0001a0002a0004 | a0001c0018a0002c0003a0002c0006others(2): Show | a0001c0018t0003a0002c0003t0001a0002c0003t0002others(3): Show | a0001c0018t0003g0107 a0002c0003t0001g0007 a0002c0003t0002g0005 others(4): Show |
7 | 159 | 0.0440 | 464 | c.77- others(479): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1284738 | C | CACTGCAG others(457): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0159 | 1 | 159 | 0.0063 | 464 | c.77- others(479): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1284738 | C | CACTGCAG others(457): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0004 | 1 | 159 | 0.0063 | 464 | c.77- others(479): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232186 | G | GTCACCAC others(457): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 396 | 0.0025 | 464 | c.513 others(479): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(457): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 230 | 0.0044 | 464 | c.724 others(483): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1384950 | G | GCACAGTT others(457): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0003 | 1 | 40 | 0.0250 | 464 | c.107 others(485): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838509 | G | GCTCGCCC others(457): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0006 | a0006c0039 | a0006c0039t0001 | a0006c0039t0001g0101 | 1 | 316 | 0.0032 | 464 | c.*49 others(475): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4768 | chr17 | TogoVar | |||||||
DNM2_chr19_10713079_10836903 | 10758331 | T | TTCCCTCC others(457): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 278 | 0.0036 | 464 | c.162 others(481): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400472 | C | CCACCTCC others(457): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0099 | 1 | 256 | 0.0039 | 464 | c.323 others(483): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 671295 | C | CGACCTCT others(457): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(78): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0002a0006c0008t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(73): Show |
81 | 378 | 0.2143 | 464 | c.106 others(483): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 671352 | G | GAGACCTC others(457): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 378 | 0.0027 | 464 | c.106 others(483): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 671396 | C | CTGGGCTC others(457): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 378 | 0.0027 | 464 | c.106 others(483): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4/5 | chr8 | TogoVar | |||||||
GADD45B_chr19_2471127_2483257 | 2480930 | A | ACCTGTAG others(457): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG01516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0003g0001 others(1): Show |
4 | 460 | 0.0087 | 464 | c.*33 others(475): Show |
GADD45B | ENSG00000099860.9 | transcript | ENST00000215631.9 | protein_coding | 2674 | chr19 | TogoVar | |||||||
GADD45B_chr19_2471127_2483257 | 2480930 | A | ACCTGTAG others(457): Show |
downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 460 | 0.0022 | 464 | c.*33 others(475): Show |
GADD45B | ENSG00000099860.9 | transcript | ENST00000215631.9 | protein_coding | 2674 | chr19 | TogoVar |