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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF16_chr1_3449665_3486113 | 3477298 | T | TCACCCCC others(1993): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 331 | 0.0030 | 2000 | c.147 others(2017): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(1993): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02717.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0030 | a0001c0001t0004g0300 a0001c0001t0008g0302 a0001c0001t0030g0299 others(1): Show |
4 | 198 | 0.0202 | 2000 | c.648 others(2017): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241571050 | A | ATGGGTGA others(1993): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 273 | 0.0037 | 2000 | c.513 others(2015): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1993): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 30 | 0.0333 | 2000 | c.445 others(2015): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(1993): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0154 | 1 | 22 | 0.0455 | 2000 | c.-90 others(2015): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 520426 | C | CCACCGAG others(1993): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0194 | 1 | 230 | 0.0043 | 2000 | c.238 others(2021): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586259 | G | GGGGAAAG others(1993): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 | 1 | 261 | 0.0038 | 2000 | c.157 others(2015): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1993): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 13 | 0.0769 | 2000 | c.978 others(2017): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173036 | T | TCTCTCCC others(1993): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0080 | 1 | 156 | 0.0064 | 2000 | c.*11 others(2021): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535833 | A | AGGGGGGA others(1993): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0159 | 1 | 285 | 0.0035 | 2000 | c.140 others(2017): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(1993): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 2000 | c.-20 others(2011): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(1994): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02818.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 a0001c0001t0005g0087 |
3 | 10 | 0.3000 | 2001 | c.-23 others(2018): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(1994): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0007 | a0001c0007t0033 | a0001c0007t0033g0084 | 1 | 8 | 0.1250 | 2001 | c.-23 others(2018): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(1994): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0128 | 1 | 8 | 0.1250 | 2001 | c.-23 others(2018): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(1994): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0142 | 1 | 8 | 0.1250 | 2001 | c.-23 others(2018): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(1994): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0172 | 1 | 8 | 0.1250 | 2001 | c.-23 others(2018): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(1994): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00735.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0085 a0001c0001t0003g0215 a0001c0001t0005g0019 others(10): Show |
18 | 25 | 0.7200 | 2001 | c.-23 others(2018): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(1994): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01884.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0037 others(12): Show |
22 | 29 | 0.7586 | 2001 | c.-23 others(2018): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(1994): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0081 a0001c0001t0004g0009 a0001c0001t0004g0071 others(13): Show |
19 | 26 | 0.7308 | 2001 | c.-23 others(2018): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(1994): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 | 2 | 9 | 0.2222 | 2001 | c.-23 others(2018): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1994): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0103 | 1 | 4 | 0.2500 | 2001 | c.972 others(2014): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1995): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 89 | 0.0112 | 2002 | c.128 others(2017): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1995): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0117 | 1 | 16 | 0.0625 | 2002 | c.164 others(2021): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586550 | G | GGGGGGGA others(1995): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 257 | 0.0039 | 2002 | c.157 others(2019): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1995): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0060 | 1 | 4 | 0.2500 | 2002 | c.972 others(2015): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1995): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 4 | 0.2500 | 2002 | c.972 others(2015): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(1995): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0124 | 1 | 8 | 0.1250 | 2002 | c.723 others(2019): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1995): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0040 | a0040c0033 | a0040c0033t0001 | a0040c0033t0001g0052 | 1 | 32 | 0.0313 | 2002 | c.218 others(2017): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248649 | C | CTAGCAGT others(1995): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0110 | 1 | 302 | 0.0033 | 2002 | c.*12 others(2015): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2555 | chr11 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1995): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 28 | 0.0357 | 2002 | c.-50 others(2013): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(1995): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0075 | 1 | 145 | 0.0069 | 2002 | c.327 others(2019): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(1995): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0066 | 1 | 145 | 0.0069 | 2002 | c.327 others(2019): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(1995): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0062 | 1 | 145 | 0.0069 | 2002 | c.327 others(2019): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(1995): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 a0001c0001t0002g0243 |
2 | 146 | 0.0137 | 2002 | c.327 others(2019): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(1995): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18955.hp2 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 |
3 | 147 | 0.0204 | 2002 | c.327 others(2019): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(1995): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0099 | 1 | 145 | 0.0069 | 2002 | c.327 others(2019): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(1995): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0096 a0001c0001t0004g0080 a0001c0001t0004g0081 others(23): Show |
26 | 170 | 0.1529 | 2002 | c.327 others(2019): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(1995): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0077 | 1 | 145 | 0.0069 | 2002 | c.327 others(2019): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313244 | G | GTGTGCAC others(1995): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 145 | 0.0069 | 2002 | c.327 others(2019): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1995): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 146 | 0.0068 | 2002 | c.114 others(2019): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948633 | A | AGGGGCGT others(1995): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0291 | 1 | 47 | 0.0213 | 2002 | c.114 others(2019): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1996): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 2 | 0.5000 | 2003 | c.44- others(2016): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RGS10_chr10_119494817_119547719 | 119547323 | C | CGCTCCGT others(1996): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 4 | 0.2500 | 2003 | c.-46 others(2014): Show |
RGS10 | ENSG00000148908.15 | transcript | ENST00000369103.3 | protein_coding | 4605 | chr10 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763752 | T | TCTCCTCT others(1997): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0204 | 1 | 194 | 0.0052 | 2004 | c.108 others(2021): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763752 | T | TCTCCTCT others(1997): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02165.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0010a0001c0012 | a0001c0001t0004a0001c0001t0022a0001c0010t0012others(2): Show | a0001c0001t0004g0164 a0001c0001t0022g0035 a0001c0010t0012g0107 others(3): Show |
6 | 199 | 0.0302 | 2004 | c.108 others(2021): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(1997): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 a0001c0001t0002g0222 |
2 | 196 | 0.0102 | 2004 | c.648 others(2021): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1997): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 2 | 0.5000 | 2004 | c.44- others(2017): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(1997): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 |
a0007 | a0007c0012 | a0007c0012t0019 | a0007c0012t0019g0042 | 2 | 271 | 0.0074 | 2004 | c.-5+ others(2017): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399424 | T | TCACCACC others(1997): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0262 | 1 | 174 | 0.0057 | 2004 | c.-25 others(2021): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399439 | C | CCGCCACC others(1997): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240 | 1 | 297 | 0.0034 | 2004 | c.-25 others(2021): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |