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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EHMT1_chr9_137614005_137841127 | 137716421 | G | GGTGTCAT others(2600): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0147 | 1 | 170 | 0.0059 | 2607 | c.86- others(2620): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323329 | G | GAATATAT others(2600): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 323 | 0.0031 | 2607 | c.-17 others(2618): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1640 | chr21 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGC others(2600): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 56 | 0.0179 | 2607 | c.209 others(2622): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668331 | C | CCCTTACC others(2600): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 378 | 0.0027 | 2607 | c.147 others(2626): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
RAP1A_chr1_111614789_111721691 | 111639406 | T | TTACACTT others(2600): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 380 | 0.0026 | 2607 | c.-28 others(2626): Show |
RAP1A | ENSG00000116473.15 | transcript | ENST00000369709.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2601): Show |
intron_variant | MODIFIER | NA19011.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0132 a0001c0001t0004g0140 |
2 | 334 | 0.0060 | 2608 | c.147 others(2625): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2601): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0138 | 1 | 298 | 0.0034 | 2608 | c.955 others(2625): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2601): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0132 |
2 | 316 | 0.0063 | 2608 | c.44- others(2621): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(2601): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 290 | 0.0035 | 2608 | c.162 others(2627): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364519 | G | GCGCTTAC others(2601): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0230 | 1 | 290 | 0.0035 | 2608 | c.129 others(2625): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2601): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0096 |
2 | 158 | 0.0127 | 2608 | c.284 others(2627): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
STARD9_chr15_42570606_42725998 | 42624481 | A | ACCACCAA others(2601): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0027 | 1 | 210 | 0.0048 | 2608 | c.235 others(2627): Show |
STARD9 | ENSG00000159433.12 | transcript | ENST00000290607.12 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARHGAP12_chr10_31800398_31933831 | 31905850 | C | CAGAAATA others(2602): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0018 | 1 | 322 | 0.0031 | 2609 | c.684 others(2626): Show |
ARHGAP12 | ENSG00000165322.18 | transcript | ENST00000344936.7 | protein_coding | 3/19 | chr10 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2602): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 | 1 | 334 | 0.0030 | 2609 | c.147 others(2626): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976616 | C | CCACGCAG others(2602): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0069 | 1 | 116 | 0.0086 | 2609 | c.199 others(2628): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SLC45A2_chr5_33939623_33989693 | 33952496 | T | TAAGAAAT others(2602): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 440 | 0.0023 | 2609 | c.103 others(2626): Show |
SLC45A2 | ENSG00000164175.15 | transcript | ENST00000296589.9 | protein_coding | 4/6 | chr5 | TogoVar | |||||||
SULT6B1_chr2_37162820_37193670 | 37166449 | T | TCCCTCCC others(2602): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0103 | 1 | 354 | 0.0028 | 2609 | c.*14 others(2620): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 1370 | chr2 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 262009 | C | CGTTTAAG others(2603): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0074 | 1 | 290 | 0.0035 | 2610 | c.-95 others(2629): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2603): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0048 | 1 | 290 | 0.0035 | 2610 | c.-95 others(2629): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2603): Show |
intron_variant | MODIFIER | NA19003.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0205 |
2 | 290 | 0.0069 | 2610 | c.-95 others(2629): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2603): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0078 | 1 | 290 | 0.0035 | 2610 | c.-95 others(2629): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2603): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02135.hp2 NA18946.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0068 a0002c0002t0002g0053 a0002c0002t0002g0069 others(1): Show |
4 | 290 | 0.0138 | 2610 | c.-95 others(2629): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2603): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 290 | 0.0035 | 2610 | c.-95 others(2629): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2603): Show |
intron_variant | MODIFIER | HG02273.hp2 NA18943.hp2 NA18953.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0002a0002c0002t0026 | a0001c0001t0010g0066 a0002c0002t0002g0013 a0002c0002t0002g0049 others(3): Show |
6 | 290 | 0.0207 | 2610 | c.-95 others(2629): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2603): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 290 | 0.0035 | 2610 | c.-95 others(2629): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2603): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19011.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 a0002c0002t0001g0072 |
2 | 290 | 0.0069 | 2610 | c.-95 others(2629): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2603): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 290 | 0.0035 | 2610 | c.-95 others(2629): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2603): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0114a0001c0001t0115 | a0001c0001t0114g0254 a0001c0001t0115g0255 |
2 | 388 | 0.0052 | 2610 | c.114 others(2629): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2603): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0122 | a0001c0001t0122g0256 | 1 | 388 | 0.0026 | 2610 | c.114 others(2629): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896864 | G | GGGGTGTG others(2603): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0005 | 1 | 37 | 0.0270 | 2610 | c.161 others(2625): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877040 | G | GGTGAGGG others(2603): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 274 | 0.0037 | 2610 | c.224 others(2629): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 221682 | G | GCTCCAGT others(2603): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02148.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0030 a0001c0001t0013g0055 a0001c0001t0013g0107 |
3 | 133 | 0.0226 | 2610 | c.614 others(2627): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
STARD9_chr15_42570606_42725998 | 42624481 | A | ACCACCAA others(2603): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0033 | a0033c0041 | a0033c0041t0001 | a0033c0041t0001g0068 | 1 | 210 | 0.0048 | 2610 | c.235 others(2629): Show |
STARD9 | ENSG00000159433.12 | transcript | ENST00000290607.12 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169170 | T | TCCTCCCT others(2603): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 115 | 0.0087 | 2610 | c.*86 others(2619): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 773 | chrX | TogoVar | |||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2603): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0025 | 1 | 433 | 0.0023 | 2610 | c.-16 others(2621): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2604): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0014 | a0014c0046 | a0014c0046t0002 | a0014c0046t0002g0119 | 1 | 334 | 0.0030 | 2611 | c.147 others(2628): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588206 | G | GCGTGTCA others(2604): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 348 | 0.0029 | 2611 | c.928 others(2626): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2604): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 316 | 0.0032 | 2611 | c.44- others(2624): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174087491 | T | TCTATAAT others(2604): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0032 | a0002c0002t0008g0039 a0002c0002t0008g0040 a0002c0002t0032g0032 |
3 | 262 | 0.0115 | 2611 | c.729 others(2628): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339728 | A | ATCCCCCC others(2604): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0018 | a0001c0018t0008 | a0001c0018t0008g0257 | 1 | 280 | 0.0036 | 2611 | c.89- others(2624): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2605): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0213 | 1 | 434 | 0.0023 | 2612 | c.16+ others(2627): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477306 | A | ACCCCCAC others(2605): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0010 | a0010c0039 | a0010c0039t0001 | a0010c0039t0001g0235 | 1 | 334 | 0.0030 | 2612 | c.147 others(2629): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251007 | A | ACCCCCAC others(2605): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 116 | 0.0086 | 2612 | c.207 others(2631): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252896 | T | TCACCACC others(2605): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0136 | 1 | 366 | 0.0027 | 2612 | c.666 others(2629): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2605): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 294 | 0.0034 | 2612 | c.153 others(2631): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
OLA1_chr2_174067447_174253532 | 174087491 | T | TCTATAAT others(2605): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0031 | 1 | 262 | 0.0038 | 2612 | c.729 others(2629): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
PCDH9_chr13_66297834_67235336 | 66317736 | T | TAAGAAAA others(2605): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0032 | 1 | 80 | 0.0125 | 2612 | c.334 others(2633): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2605): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0199 | 1 | 322 | 0.0031 | 2612 | c.178 others(2629): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134619331 | A | AAAAAAAA others(2605): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 322 | 0.0031 | 2612 | c.178 others(2629): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1289799 | T | TCCGTCCC others(2605): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 290 | 0.0035 | 2612 | c.166 others(2629): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |