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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2153): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0204 | 1 | 8 | 0.1250 | 2160 | c.-56 others(2179): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2153): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 a0001c0001t0002g0216 |
2 | 9 | 0.2222 | 2160 | c.-56 others(2179): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2153): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0015 | 1 | 8 | 0.1250 | 2160 | c.-56 others(2179): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2153): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 5 | 326 | 0.0153 | 2160 | c.*44 others(2171): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2153): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 322 | 0.0031 | 2160 | c.*44 others(2171): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2153): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 322 | 0.0031 | 2160 | c.*44 others(2171): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2153): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 HG03098.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 223 | 0.0135 | 2160 | c.*44 others(2171): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2153): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2160 | c.*44 others(2171): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2153): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2160 | c.*44 others(2171): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744631 | C | CCCTGGTT others(2153): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0004 | a0001c0004t0033 | a0001c0004t0033g0023 | 1 | 158 | 0.0063 | 2160 | c.655 others(2177): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072941 | G | GAGCCCCC others(2153): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0029 | a0001c0029t0007 | a0001c0029t0007g0012 | 1 | 97 | 0.0103 | 2160 | c.224 others(2177): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2153): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 19 | 0.0526 | 2160 | c.389 others(2179): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930709 | C | CCGGGGTT others(2153): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 434 | 0.0023 | 2160 | c.*48 others(2171): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4660 | chr11 | TogoVar | |||||||
VCX3A_chrX_6528618_6540118 | 6532752 | C | CCTCCCTC others(2153): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 | a0020 | a0020c0009 | a0020c0009t0014 | a0020c0009t0014g0042 | 1 | 65 | 0.0154 | 2160 | c.*99 others(2169): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 865 | chrX | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2154): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0020 | 1 | 40 | 0.0250 | 2161 | c.179 others(2182): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2154): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0016 | a0003c0016t0002 | a0003c0016t0002g0293 | 1 | 50 | 0.0200 | 2161 | c.147 others(2178): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331582 | C | CCCCAGGC others(2154): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0022 | 1 | 53 | 0.0189 | 2161 | c.169 others(2180): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642833 | A | AAGGGACA others(2154): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0032 | 1 | 338 | 0.0030 | 2161 | c.*17 others(2172): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1399 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2154): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 7 | 0.1429 | 2161 | c.*16 others(2172): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2154): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 75 | 0.0133 | 2161 | c.*69 others(2172): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
IFT25_chr1_53916561_53950699 | 53935450 | T | TGTGTGGG others(2154): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 276 | 0.0036 | 2161 | c.98+ others(2176): Show |
IFT25 | ENSG00000081870.12 | transcript | ENST00000194214.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
IFT25_chr1_53916561_53950699 | 53935450 | T | TGTGTGGG others(2154): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 276 | 0.0036 | 2161 | c.98+ others(2176): Show |
IFT25 | ENSG00000081870.12 | transcript | ENST00000194214.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2154): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG02895.hp2 others(7): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0009others(6): Show | a0001c0001t0106a0002c0002t0029a0002c0009t0105others(6): Show | a0001c0001t0106g0106 a0002c0002t0029g0128 a0002c0002t0029g0129 others(7): Show |
10 | 60 | 0.1667 | 2161 | c.183 others(2178): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(2154): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0137 | 1 | 220 | 0.0045 | 2161 | c.129 others(2180): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150015 | T | TCACACCA others(2154): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142 | 1 | 110 | 0.0091 | 2161 | c.902 others(2176): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2154): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 212 | 0.0047 | 2161 | c.-35 others(2172): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2154): Show |
upstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 212 | 0.0047 | 2161 | c.-35 others(2172): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2154): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0065 | 1 | 218 | 0.0046 | 2161 | c.100 others(2176): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2154): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0058 | 1 | 218 | 0.0046 | 2161 | c.100 others(2176): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2154): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 65 | 0.0154 | 2161 | c.4-1 others(2174): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2154): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 8 | 0.1250 | 2161 | c.-56 others(2180): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2154): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 8 | 0.1250 | 2161 | c.-56 others(2180): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2154): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0025others(2): Show | a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0239 others(9): Show |
12 | 19 | 0.6316 | 2161 | c.-56 others(2180): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2154): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02071.hp1 HG02083.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0155 a0001c0001t0002g0217 a0001c0001t0002g0220 others(8): Show |
11 | 18 | 0.6111 | 2161 | c.-56 others(2180): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2154): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0106 | 1 | 8 | 0.1250 | 2161 | c.-56 others(2180): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2154): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2161 | c.-20 others(2172): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2155): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0051 | a0004c0051t0001 | a0004c0051t0001g0031 | 1 | 13 | 0.0769 | 2162 | c.354 others(2181): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2155): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 7 | 0.1429 | 2162 | c.*16 others(2173): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56367263 | C | CCTTTTTT others(2155): Show |
intron_variant | MODIFIER | HG02965.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0073 a0001c0001t0009g0072 |
2 | 69 | 0.0290 | 2162 | c.657 others(2181): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 2/17 | chr3 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2155): Show |
upstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 249 | 0.0040 | 2162 | c.-11 others(2173): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2155): Show |
intron_variant | MODIFIER | NA19007.hp1 NA19060.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0015a0001c0004t0036 | a0001c0001t0015g0085 a0001c0004t0036g0073 |
2 | 52 | 0.0385 | 2162 | c.183 others(2179): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2155): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02451.hp1 others(6): Show |
a0001a0002a0007others(2): Show | a0001c0028a0002c0015a0007c0004others(4): Show | a0001c0028t0033a0002c0015t0005a0007c0004t0001others(6): Show | a0001c0028t0033g0137 a0002c0015t0005g0140 a0007c0004t0001g0133 others(6): Show |
9 | 44 | 0.2045 | 2162 | c.816 others(2179): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2155): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 8 | 0.1250 | 2162 | c.-56 others(2181): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2155): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0258 | 1 | 8 | 0.1250 | 2162 | c.-56 others(2181): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2155): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0202 | 1 | 8 | 0.1250 | 2162 | c.-56 others(2181): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2156): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 139 | 0.0072 | 2163 | c.552 others(2180): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2156): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 2 | 0.5000 | 2163 | c.44- others(2176): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251411 | C | CAAATCCC others(2156): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0004 | a0003c0004t0013 | a0003c0004t0013g0038 | 1 | 109 | 0.0092 | 2163 | c.207 others(2182): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
DDR2_chr1_162627464_162792405 | 162720490 | T | TCAACTAT others(2156): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0056others(3): Show | a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0020 others(38): Show |
41 | 299 | 0.1371 | 2163 | c.82+ others(2178): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DDR2_chr1_162627464_162792405 | 162720490 | T | TCAACTAT others(2156): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0156 | 1 | 259 | 0.0039 | 2163 | c.82+ others(2178): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |