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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYSF_chr2_71448561_71691763 | 71618390 | T | TGTGTGTG others(1222): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0073 | a0001c0073t0001 | a0001c0073t0001g0005 | 1 | 192 | 0.0052 | 1229 | c.441 others(1248): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71618390 | T | TGTGTGTG others(1222): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0078 | a0001c0078t0001 | a0001c0078t0001g0199 | 1 | 208 | 0.0048 | 1229 | c.446 others(1248): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1222): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0007 | a0003c0007t0090 | a0003c0007t0090g0093 | 1 | 108 | 0.0093 | 1229 | c.648 others(1248): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1222): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0104a0004c0004t0002g0105 | 2 | 292 | 0.0069 | 1229 | c.218 others(1244): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTGCCC others(1222): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 194 | 0.0052 | 1229 | c.-12 others(1248): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43432644 | G | GAGAGAGA others(1222): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0020 | 1 | 250 | 0.0040 | 1229 | c.225 others(1246): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841411 | T | TGACCACA others(1222): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0043 | 1 | 242 | 0.0041 | 1229 | c.361 others(1248): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTCCT others(1222): Show |
intron_variant | MODIFIER | HG01255.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0149a0001c0001t0006g0148 | 2 | 360 | 0.0056 | 1229 | c.456 others(1244): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1222): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0291 | 1 | 360 | 0.0028 | 1229 | c.456 others(1244): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1222): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0017 | a0017c0089 | a0017c0089t0001 | a0017c0089t0001g0132 | 1 | 282 | 0.0036 | 1229 | c.299 others(1244): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1222): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0278 | 1 | 334 | 0.0030 | 1229 | c.45- others(1244): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(1222): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0148 | 1 | 280 | 0.0036 | 1229 | c.89- others(1242): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SPATA3_chr2_230991121_231013040 | 231005545 | C | CATCACCA others(1222): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0090 | 1 | 436 | 0.0023 | 1229 | c.*11 others(1248): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPATA3_chr2_230991121_231013040 | 231005545 | C | CATCACCA others(1222): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02896.hp2 |
a0007 | a0007c0008 | a0007c0008t0009 | a0007c0008t0009g0058a0007c0008t0009g0134 | 2 | 436 | 0.0046 | 1229 | c.*11 others(1248): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TTLL8_chr22_50013575_50063298 | 50028618 | G | GAAGACCC others(1222): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0032 | 1 | 224 | 0.0045 | 1229 | c.225 others(1248): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1222): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 360 | 0.0028 | 1229 | c.*24 others(1240): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024761 | A | AACTATGA others(1222): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 144 | 0.0069 | 1229 | c.427 others(1248): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | chr18 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1223): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 337 | 0.0030 | 1230 | c.179 others(1251): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1223): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010 | a0001c0001t0007g0333a0001c0001t0010g0321 | 2 | 337 | 0.0059 | 1230 | c.179 others(1251): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1223): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0026 | 1 | 337 | 0.0030 | 1230 | c.179 others(1251): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1223): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0140 | 1 | 337 | 0.0030 | 1230 | c.179 others(1251): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1223): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0239 | 1 | 337 | 0.0030 | 1230 | c.179 others(1251): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1223): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 337 | 0.0030 | 1230 | c.179 others(1251): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1223): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0028 | 1 | 337 | 0.0030 | 1230 | c.179 others(1251): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1223): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 337 | 0.0030 | 1230 | c.179 others(1251): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035519 | A | ACCTGTTC others(1223): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 337 | 0.0030 | 1230 | c.179 others(1251): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049950 | T | TGGGGGGC others(1223): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0301 | 1 | 308 | 0.0033 | 1230 | c.*47 others(1241): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2153 | chr8 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105239047 | C | CGTGGCAC others(1223): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 72 | 0.0139 | 1230 | c.694 others(1247): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099615 | G | GTTCTAAG others(1223): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18980.hp1 NA19068.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0244a0001c0002t0002g0019a0001c0002t0002g0256 | 3 | 326 | 0.0092 | 1230 | c.-13 others(1249): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591936 | G | GGTGGTGA others(1223): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0259 | 1 | 344 | 0.0029 | 1230 | c.373 others(1247): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(1223): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03130.hp2 HG06807.hp2 |
a0002 | a0002c0002a0002c0100a0002c0104 | a0002c0002t0001a0002c0100t0001a0002c0104t0001 | a0002c0002t0001g0175a0002c0100t0001g0177a0002c0104t0001g0178 | 3 | 344 | 0.0087 | 1230 | c.85- others(1247): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
CSNK1G2_chr19_1936172_1986338 | 1968273 | C | CGACCACC others(1223): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 382 | 0.0026 | 1230 | c.-26 others(1249): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725522 | A | AGAGGAAG others(1223): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02976.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0223a0001c0006t0001g0224a0001c0006t0001g0225 | 3 | 324 | 0.0093 | 1230 | c.340 others(1247): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(1223): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0181 | 1 | 216 | 0.0046 | 1230 | c.923 others(1249): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1223): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0087 | a0002c0087t0001 | a0002c0087t0001g0017 | 1 | 252 | 0.0040 | 1230 | c.118 others(1249): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716419 | T | TTGGTGTC others(1223): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 170 | 0.0059 | 1230 | c.86- others(1243): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EIPR1_chr2_3183970_3382818 | 3315169 | C | CCACCACC others(1223): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0105 | 2 | 250 | 0.0080 | 1230 | c.259 others(1249): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706433 | G | GATACATA others(1223): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0168 | 1 | 292 | 0.0034 | 1230 | c.228 others(1247): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706433 | G | GATACATA others(1223): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0019 | a0019c0050 | a0019c0050t0009 | a0019c0050t0009g0198 | 1 | 369 | 0.0027 | 1230 | c.-49 others(1241): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4767 | chr4 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1223): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0122 | 1 | 416 | 0.0024 | 1230 | c.522 others(1245): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1223): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0082 | 1 | 416 | 0.0024 | 1230 | c.522 others(1245): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1223): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0111 | 1 | 416 | 0.0024 | 1230 | c.522 others(1245): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1223): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0058 | 1 | 416 | 0.0024 | 1230 | c.522 others(1245): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328367 | C | CCTGGACT others(1223): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0052 | 1 | 416 | 0.0024 | 1230 | c.522 others(1245): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328367 | C | CCTGGACT others(1223): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0165 | 1 | 416 | 0.0024 | 1230 | c.522 others(1245): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328367 | C | CCTGGACT others(1223): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0097 | 1 | 416 | 0.0024 | 1230 | c.522 others(1245): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1223): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 418 | 0.0024 | 1230 | c.119 others(1249): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252908 | C | CCACCACC others(1223): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0264 | 1 | 366 | 0.0027 | 1230 | c.666 others(1247): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HIVEP3_chr1_41501365_41923922 | 41544944 | A | ACCATCAC others(1223): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02895.hp1 HG03130.hp2 |
a0012a0021 | a0012c0016a0021c0040 | a0012c0016t0003a0021c0040t0043 | a0012c0016t0003g0083a0012c0016t0003g0092a0021c0040t0043g0078 | 3 | 134 | 0.0224 | 1230 | c.520 others(1251): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103851 | A | AGTGGGGA others(1223): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0013 | a0013c0022 | a0013c0022t0001 | a0013c0022t0001g0259 | 1 | 282 | 0.0036 | 1230 | c.623 others(1247): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | chr12 | TogoVar |