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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(467): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0004 | 1 | 8 | 0.1250 | 474 | c.*69 others(485): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCTTC others(467): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 8 | 0.1250 | 474 | c.*69 others(485): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575563 | T | TATATATA others(467): Show |
intron_variant | MODIFIER | HG03492.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 a0001c0001t0002g0176 |
2 | 205 | 0.0098 | 474 | c.894 others(489): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575597 | T | CGTATATA others(467): Show |
intron_variant | MODIFIER | NA18957.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 a0001c0001t0002g0284 |
2 | 241 | 0.0083 | 474 | c.894 others(489): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575631 | T | TATATATA others(467): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02015.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 a0001c0001t0002g0184 |
2 | 292 | 0.0068 | 474 | c.894 others(489): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575863 | C | CACGCGTA others(467): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 289 | 0.0035 | 474 | c.894 others(489): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575863 | C | CACGCGTA others(467): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 289 | 0.0035 | 474 | c.894 others(489): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647301 | A | ACAATCCT others(467): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0188 | 1 | 213 | 0.0047 | 474 | c.*51 others(485): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1957 | chr15 | TogoVar | |||||||
DAB1_chr1_56989778_57429060 | 57367043 | C | CAAAATAA others(467): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0010 | 1 | 16 | 0.0625 | 474 | c.-13 others(495): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(467): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0005 | a0001c0005t0018 | a0001c0005t0018g0317 | 1 | 257 | 0.0039 | 474 | c.348 others(491): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(467): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00735.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0264 a0001c0001t0001g0295 a0001c0001t0001g0307 others(2): Show |
5 | 261 | 0.0192 | 474 | c.348 others(491): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(467): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 257 | 0.0039 | 474 | c.348 others(491): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(467): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0285 | 1 | 257 | 0.0039 | 474 | c.348 others(491): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875284 | C | CCACCCGC others(467): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0173 | 1 | 243 | 0.0041 | 474 | c.*39 others(485): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2458 | chr20 | TogoVar | |||||||
DOCK3_chr3_50669927_51389198 | 51015808 | C | CTATATAT others(467): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 15 | 0.0667 | 474 | c.316 others(493): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400070 | T | TCACCATC others(467): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0040 | a0040c0140 | a0040c0140t0004 | a0040c0140t0004g0064 | 1 | 209 | 0.0048 | 474 | c.323 others(491): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DSC1_chr18_31124236_31167856 | 31150373 | C | CACCACCA others(467): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0169 | 1 | 4 | 0.2500 | 474 | c.628 others(491): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 5/15 | chr18 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26005391 | A | AATATATA others(467): Show |
intron_variant | MODIFIER | HG03130.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0033 a0001c0005t0001g0034 |
2 | 218 | 0.0092 | 474 | c.551 others(493): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486886 | A | ACCTGCCC others(467): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 340 | 0.0029 | 474 | c.*14 others(485): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1127 | chr20 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99923607 | T | TGTAAAGG others(467): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0277 | 1 | 225 | 0.0044 | 474 | c.190 others(493): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928008 | G | GTGATGGT others(467): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0147 | 1 | 230 | 0.0043 | 474 | c.190 others(493): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 602282 | C | CTGCGAAT others(467): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 | 1 | 189 | 0.0053 | 474 | c.743 others(491): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14568337 | G | GGGAGGAG others(467): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0165 | 1 | 58 | 0.0172 | 474 | c.470 others(493): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14568364 | A | AGGGTTAG others(467): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02647.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0013a0001c0001t0020 | a0001c0001t0011g0005 a0001c0001t0011g0080 a0001c0001t0011g0142 others(3): Show |
6 | 270 | 0.0222 | 474 | c.470 others(493): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128540067 | C | CATATATC others(467): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0040 | a0003c0040t0002 | a0003c0040t0002g0042 | 1 | 197 | 0.0051 | 474 | c.-24 others(485): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1823 | chr5 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27307449 | A | ATATAGGT others(467): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0052 | 1 | 35 | 0.0286 | 474 | c.271 others(493): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807607 | T | TCCCTCCC others(467): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 303 | 0.0033 | 474 | c.*34 others(485): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3321 | chr2 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77248111 | T | TGTGGGTT others(467): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0008 | a0008c0009 | a0008c0009t0119 | a0008c0009t0119g0221 | 1 | 262 | 0.0038 | 474 | c.-24 others(485): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1736 | chr18 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77248111 | T | TGTGGGTT others(467): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(76): Show |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0002a0001c0002t0004a0001c0002t0007others(22): Show | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0017 others(69): Show |
79 | 340 | 0.2324 | 474 | c.-24 others(485): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1736 | chr18 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113826385 | G | GGCCTCGC others(467): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0015 | 1 | 139 | 0.0072 | 474 | c.147 others(491): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113826385 | G | GGCCTCGC others(467): Show |
intron_variant | MODIFIER | HG01071.hp1 NA18522.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0011 a0002c0005t0001g0016 |
2 | 140 | 0.0143 | 474 | c.147 others(491): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113826652 | G | GGCGCTGG others(467): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 2 | 126 | 0.0159 | 474 | c.147 others(491): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GET4_chr7_871554_901436 | 889943 | T | TCTGGGAG others(467): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0243 | 1 | 362 | 0.0028 | 474 | c.467 others(489): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308398 | T | TCACCACC others(467): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02976.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0188 |
5 | 319 | 0.0157 | 474 | c.961 others(491): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544944 | A | ACCATCAC others(467): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0009 | a0009c0010 | a0009c0010t0049 | a0009c0010t0049g0028 | 1 | 127 | 0.0079 | 474 | c.520 others(495): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HS3ST2_chr16_22809162_22921338 | 22819134 | T | TCCTTCCC others(467): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 244 | 0.0041 | 474 | c.485 others(491): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7153367 | C | CCACACAC others(467): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01070.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0020a0001c0001t0037others(3): Show | a0001c0001t0001g0144 a0001c0001t0020g0055 a0001c0001t0020g0074 others(4): Show |
7 | 15 | 0.4667 | 474 | c.203 others(491): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 9/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7153367 | C | CCACACAC others(467): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0194 | 1 | 9 | 0.1111 | 474 | c.203 others(491): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 9/21 | chr19 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(467): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0071 | 1 | 56 | 0.0179 | 474 | c.*11 others(495): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(467): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0075 | 1 | 26 | 0.0385 | 474 | c.946 others(491): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(467): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02040.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0038 | a0001c0001t0036g0110 a0001c0001t0038g0120 |
2 | 27 | 0.0741 | 474 | c.946 others(491): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442773 | T | TTACCACC others(467): Show |
intron_variant | MODIFIER | NA18973.hp2 NA18983.hp2 NA19057.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0030a0002c0001 | a0001c0002t0001a0001c0002t0070a0001c0030t0001others(1): Show | a0001c0002t0001g0125 a0001c0002t0070g0247 a0001c0030t0001g0257 others(3): Show |
6 | 201 | 0.0299 | 474 | c.691 others(489): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16288405 | T | TACAGTAT others(467): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0020a0001c0008t0001 | a0001c0001t0020g0105 a0001c0008t0001g0133 |
2 | 248 | 0.0081 | 474 | c.379 others(495): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 25/25 | chr20 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240812905 | C | CGCCTTCA others(467): Show |
intron_variant | MODIFIER | HG02523.hp2 HG04184.hp2 NA18961.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0002g0309 a0001c0001t0002g0322 a0001c0001t0005g0320 others(4): Show |
7 | 327 | 0.0214 | 474 | c.-61 others(491): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 1/48 | chr2 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349785 | G | GATGGGGG others(467): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0148 | 1 | 139 | 0.0072 | 474 | c.956 others(491): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LAP3_chr4_17572198_17612970 | 17580165 | C | CATATATA others(467): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0120 | 1 | 253 | 0.0040 | 474 | c.218 others(489): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LOC102725191_chr7_12499441_12546270 | 12527001 | C | CTGAAATG others(467): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0339 | 1 | 199 | 0.0050 | 474 | c.544 others(491): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACGTAC others(467): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0021 | a0001c0021t0023 | a0001c0021t0023g0261 | 1 | 6 | 0.1667 | 474 | c.368 others(491): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCCCCCC others(467): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(2): Show |
a0001a0004 | a0001c0040a0004c0006a0004c0011 | a0001c0040t0001a0004c0006t0001a0004c0011t0003 | a0001c0040t0001g0014 a0004c0006t0001g0049 a0004c0011t0003g0169 others(2): Show |
5 | 49 | 0.1020 | 474 | c.171 others(491): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCCCCCC others(467): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02922.hp1 HG02976.hp2 others(2): Show |
a0006a0035 | a0006c0005a0035c0060 | a0006c0005t0001a0035c0060t0001 | a0006c0005t0001g0235 a0006c0005t0001g0238 a0006c0005t0001g0240 others(2): Show |
5 | 49 | 0.1020 | 474 | c.171 others(491): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |