regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFCAB5_chr17_29936634_30113452 | 30071290 | T | TTATGTAG others(1215): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 |
a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0020a0008c0011t0002g0021 | 2 | 248 | 0.0081 | 1222 | c.273 others(1241): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706401 | G | GATAGATA others(1215): Show |
upstream_gene_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0242 | 1 | 369 | 0.0027 | 1222 | c.-49 others(1233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4799 | chr4 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1215): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 418 | 0.0024 | 1222 | c.119 others(1241): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586449 | C | CAGTGGGG others(1215): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0148 | 1 | 308 | 0.0033 | 1222 | c.157 others(1239): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252965 | C | CCACCACC others(1215): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0259 | 1 | 366 | 0.0027 | 1222 | c.666 others(1239): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(1215): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0037 | 1 | 268 | 0.0037 | 1222 | c.-28 others(1233): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1215): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 242 | 0.0041 | 1222 | c.174 others(1241): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
METTL9_chr16_21594577_21662471 | 21616946 | T | TCACATTC others(1215): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 364 | 0.0028 | 1222 | c.357 others(1237): Show |
METTL9 | ENSG00000197006.15 | transcript | ENST00000358154.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1215): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 318 | 0.0031 | 1222 | c.-49 others(1233): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTGCCC others(1215): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 194 | 0.0052 | 1222 | c.-12 others(1241): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MRPL28_chr16_361969_375538 | 370285 | C | CCCTACCC others(1215): Show |
intron_variant | MODIFIER | NA18976.hp1 | a0005 | a0005c0007 | a0005c0007t0011 | a0005c0007t0011g0054 | 1 | 394 | 0.0025 | 1222 | c.-7- others(1233): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085602 | C | CATGATCT others(1215): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0246 | 1 | 403 | 0.0025 | 1222 | c.164 others(1239): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(1215): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0259 | 1 | 422 | 0.0024 | 1222 | c.195 others(1239): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952622 | T | TGGGGGGG others(1215): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 242 | 0.0041 | 1222 | c.360 others(1241): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952622 | T | TGGGGGGG others(1215): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 242 | 0.0041 | 1222 | c.360 others(1241): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1215): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 | 1 | 360 | 0.0028 | 1222 | c.456 others(1237): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OSTF1_chr9_75083514_75152265 | 75139041 | T | TTCTTTTC others(1215): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0297 | 1 | 366 | 0.0027 | 1222 | c.487 others(1239): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | chr9 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909801 | A | ACCCACTG others(1215): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0273 | 1 | 292 | 0.0034 | 1222 | c.471 others(1237): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1215): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0019 | 1 | 302 | 0.0033 | 1222 | c.*39 others(1233): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88712921 | C | CCCCCTTC others(1215): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 282 | 0.0036 | 1222 | c.*26 others(1233): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2416 | chr16 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88712921 | C | CCCCCTTC others(1215): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 282 | 0.0036 | 1222 | c.*26 others(1233): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2416 | chr16 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280139 | T | TATATATA others(1215): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0094 | 1 | 156 | 0.0064 | 1222 | c.176 others(1239): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280139 | T | TATATATA others(1215): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0074 | 1 | 156 | 0.0064 | 1222 | c.176 others(1239): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(1215): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0114 | 1 | 344 | 0.0029 | 1222 | c.327 others(1239): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169206 | C | CTCCCTCC others(1215): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0019 | 1 | 115 | 0.0087 | 1222 | c.*82 others(1231): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 737 | chrX | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1215): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 246 | 0.0041 | 1222 | c.-10 others(1239): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1216): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 150 | 0.0067 | 1223 | c.276 others(1242): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1216): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18948.hp2 |
a0001a0016 | a0001c0001a0016c0022 | a0001c0001t0001a0016c0022t0001 | a0001c0001t0001g0033a0016c0022t0001g0090 | 2 | 150 | 0.0133 | 1223 | c.276 others(1242): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1216): Show |
intron_variant | MODIFIER | HG01256.hp1 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0104a0001c0002t0002g0013 | 2 | 150 | 0.0133 | 1223 | c.276 others(1242): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GCAGTGTG others(1216): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0066 | 1 | 254 | 0.0039 | 1223 | c.305 others(1240): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GCAGTGTG others(1216): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02965.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0002a0001c0019a0001c0020others(1): Show | a0001c0002t0015a0001c0019t0015a0001c0020t0068others(1): Show | a0001c0002t0015g0054a0001c0019t0015g0147a0001c0020t0068g0055others(2): Show | 5 | 254 | 0.0197 | 1223 | c.305 others(1240): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
C2CD4C_chr19_400445_414147 | 404308 | G | GGGGTGTG others(1216): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0161 | 1 | 322 | 0.0031 | 1223 | c.*27 others(1234): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1136 | chr19 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1216): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 258 | 0.0039 | 1223 | c.403 others(1238): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650104 | G | GTGAGGCG others(1216): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 91 | 0.0110 | 1223 | c.177 others(1242): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1216): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0071 | 1 | 116 | 0.0086 | 1223 | c.-52 others(1244): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1216): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0028 | 1 | 116 | 0.0086 | 1223 | c.-52 others(1244): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878226 | T | TATATATA others(1216): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 208 | 0.0048 | 1223 | c.192 others(1242): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATATG others(1216): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0071 | 1 | 148 | 0.0068 | 1223 | c.183 others(1242): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574458 | C | CGTGTGGG others(1216): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0027 | 1 | 418 | 0.0024 | 1223 | c.119 others(1242): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113817328 | C | CGGGACAC others(1216): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0043 | 1 | 143 | 0.0070 | 1223 | c.*35 others(1234): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3220 | chr13 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCT others(1216): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0024 | a0004c0024t0002 | a0004c0024t0002g0151 | 1 | 158 | 0.0063 | 1223 | c.*11 others(1244): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124471546 | T | TATGTATA others(1216): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 260 | 0.0039 | 1223 | c.125 others(1240): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1216): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0080 | a0001c0002t0080g0046 | 1 | 108 | 0.0093 | 1223 | c.648 others(1242): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1216): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0004 | a0004c0014 | a0004c0014t0062 | a0004c0014t0062g0096 | 1 | 108 | 0.0093 | 1223 | c.648 others(1242): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MED15_chr22_20502610_20592619 | 20502990 | T | TTGTTTTT others(1216): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 341 | 0.0029 | 1223 | c.-46 others(1234): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 4619 | chr22 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTGCCC others(1216): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0136 | 1 | 194 | 0.0052 | 1223 | c.-12 others(1242): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MRPL28_chr16_361969_375538 | 370378 | C | CGGCACTC others(1216): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0052 | 1 | 394 | 0.0025 | 1223 | c.-8+ others(1236): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535833 | A | AGGGGGGA others(1216): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0277 | 1 | 324 | 0.0031 | 1223 | c.140 others(1240): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952622 | T | TGGGGGGG others(1216): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0186a0001c0001t0014g0109 | 2 | 242 | 0.0083 | 1223 | c.360 others(1242): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1216): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0288 | 1 | 360 | 0.0028 | 1223 | c.456 others(1238): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |