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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERICH1_chr8_659200_736224 | 700417 | GCCCGCAG others(46): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG02698.hp2 HG03688.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0259 others(4): Show |
7 | 325 | 0.0215 | -53 | c.170 others(70): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98073478 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 413 | 0.0024 | -53 | c.58+ others(68): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98073492 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG02083.hp1 others(12): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0001c0001t0002a0008c0011t0001 | a0001c0001t0001g0132 a0001c0001t0001g0381 a0001c0001t0001g0382 others(12): Show |
15 | 394 | 0.0381 | -53 | c.58+ others(68): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158729420 | TGTGGAGG others(46): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG02071.hp2 HG02129.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0265 others(18): Show |
21 | 363 | 0.0579 | -53 | c.*47 others(64): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1576 | chr7 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128584967 | AAAGAAAG others(46): Show |
A | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0118 | 1 | 284 | 0.0035 | -53 | c.-15 others(70): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ETS2_chr21_38800929_38829955 | 38816004 | AAGGAAGG others(46): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG02071.hp2 HG02735.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(2): Show | a0001c0001t0001g0049 a0001c0002t0002g0005 a0001c0002t0004g0009 others(2): Show |
6 | 423 | 0.0142 | -53 | c.506 others(69): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | chr21 | TogoVar | |||||||
ETS2_chr21_38800929_38829955 | 38816005 | AGGAAGGA others(46): Show |
A | intron_variant | MODIFIER | NA19000.hp2 NA20752.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0010 a0001c0003t0002g0004 |
2 | 234 | 0.0085 | -53 | c.506 others(68): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 675815 | AGGTTCCC others(46): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01123.hp1 HG01167.hp1 others(23): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0215 others(23): Show |
26 | 267 | 0.0974 | -53 | c.-44 others(72): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC4_chr7_133248078_134070761 | 133808956 | AGTGTTTC others(46): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG02280.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0019others(4): Show | a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0005g0040 others(5): Show |
8 | 100 | 0.0800 | -53 | c.151 others(72): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133823842 | ATTATATA others(46): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071 | 1 | 91 | 0.0110 | -53 | c.173 others(72): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOSC4_chr8_144073672_144085648 | 144084214 | ACCAGCCT others(46): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 300 | 0.0033 | -53 | c.*36 others(64): Show |
EXOSC4 | ENSG00000178896.9 | transcript | ENST00000316052.6 | protein_coding | 3567 | chr8 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113130077 | ACGAACCC others(46): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01243.hp2 others(8): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0006t0001 | a0001c0004t0001g0288 a0001c0004t0001g0289 a0001c0004t0001g0290 others(7): Show |
11 | 410 | 0.0268 | -53 | c.231 others(68): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FAM171A1_chr10_15206643_15376289 | 15337474 | CCGCCTGT others(46): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01496.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 others(3): Show |
6 | 302 | 0.0199 | -53 | c.97+ others(70): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 1/7 | chr10 | TogoVar | |||||||
FAM174B_chr15_92612448_92660775 | 92631292 | TATTATAT others(46): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0111 | 1 | 392 | 0.0026 | -53 | c.345 others(69): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
FAM174B_chr15_92612448_92660775 | 92660032 | AAACAAGC others(46): Show |
A | upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0129 | 1 | 392 | 0.0026 | -53 | c.-44 others(64): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 4258 | chr15 | TogoVar | |||||||
FAM227B_chr15_49321970_49625818 | 49489807 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02572.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0006a0001c0001t0011a0001c0002t0006others(1): Show | a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0267 others(5): Show |
8 | 291 | 0.0275 | -53 | c.101 others(74): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | |||||||
FAM90A22_chr8_7566995_7580006 | 7568978 | CCCCCAGG others(46): Show |
C | downstream_gene_variant | MODIFIER | HG01358.hp2 | a0019 | a0019c0039 | a0019c0039t0001 | a0019c0039t0001g0060 | 1 | 88 | 0.0114 | -53 | c.*29 others(64): Show |
FAM90A22 | ENSG00000285687.1 | transcript | ENST00000648590.1 | protein_coding | 3016 | chr8 | TogoVar | |||||||
FBXL20_chr17_39247663_39406626 | 39398845 | TTGTATTT others(46): Show |
T | intron_variant | MODIFIER | NA18966.hp1 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 |
2 | 228 | 0.0088 | -53 | c.42+ others(68): Show |
FBXL20 | ENSG00000108306.13 | transcript | ENST00000264658.11 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
FBXO46_chr19_45705629_45735896 | 45721775 | TGACCTCG others(46): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0219 a0001c0001t0003g0220 |
2 | 408 | 0.0049 | -53 | c.-78 others(70): Show |
FBXO46 | ENSG00000177051.6 | transcript | ENST00000317683.4 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
FGD6_chr12_95071749_95222467 | 95149059 | TATATATA others(46): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01069.hp2 others(21): Show |
a0001a0002 | a0001c0003a0001c0007a0001c0014others(1): Show | a0001c0003t0002a0001c0003t0019a0001c0003t0026others(4): Show | a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0061 others(21): Show |
24 | 378 | 0.0635 | -53 | c.268 others(72): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 5/20 | chr12 | TogoVar | |||||||
FGF14_chr13_101705804_101921945 | 101850474 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0130 | a0001c0001t0130g0220 | 1 | 264 | 0.0038 | -53 | c.408 others(72): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
FGF7_chr15_49418242_49493775 | 49489807 | ATATATAT others(46): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0014 a0001c0001t0009g0022 a0001c0001t0009g0059 others(4): Show |
9 | 355 | 0.0254 | -53 | c.*53 others(64): Show |
FGF7 | ENSG00000140285.12 | transcript | ENST00000267843.9 | protein_coding | 1033 | chr15 | TogoVar | |||||||
FILIP1L_chr3_99823811_100119501 | 99886216 | TTTATCAC others(46): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(128): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(14): Show | a0001c0001t0001g0038 a0001c0001t0003g0021 a0001c0001t0003g0022 others(127): Show |
131 | 256 | 0.5117 | -53 | c.606 others(72): Show |
FILIP1L | ENSG00000168386.19 | transcript | ENST00000477258.2 | protein_coding | 4/5 | chr3 | TogoVar | |||||||
FOXL2NB_chr3_138942217_138958990 | 138942925 | AAGCACAA others(46): Show |
A | upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 394 | 0.0025 | -53 | c.-44 others(64): Show |
FOXL2NB | ENSG00000206262.9 | transcript | ENST00000383165.4 | protein_coding | 4291 | chr3 | TogoVar | |||||||
FREM2_chr13_38682077_38892131 | 38813465 | TCTCTCTC others(46): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0253 | 1 | 260 | 0.0038 | -53 | c.601 others(74): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FREM2_chr13_38682077_38892131 | 38813518 | CCTCTCTC others(46): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0052 | a0052c0053 | a0052c0053t0041 | a0052c0053t0041g0116 | 1 | 222 | 0.0045 | -53 | c.601 others(74): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 6/23 | chr13 | TogoVar | |||||||
FRMD3_chr9_83239622_83543401 | 83407837 | GTCTCTCT others(46): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02809.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0103 a0001c0001t0002g0150 a0001c0001t0012g0147 others(5): Show |
8 | 125 | 0.0640 | -53 | c.148 others(72): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
FSHR_chr2_48957157_49159515 | 49127842 | TTCTTCTT others(46): Show |
T | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345 | 1 | 316 | 0.0032 | -53 | c.152 others(72): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144782 | GAACTGCT others(46): Show |
G | intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0027 | 1 | 228 | 0.0044 | -53 | c.126 others(70): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26764166 | AAAAAAAA others(46): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 177 | 0.0056 | -53 | c.240 others(70): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27387861 | AGGAAGGA others(46): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0065 | 1 | 92 | 0.0109 | -53 | c.574 others(72): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALNS_chr16_88808734_88861947 | 88842978 | CCAGCATC others(46): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0005 | a0005c0017 | a0005c0017t0016 | a0005c0017t0016g0387 | 1 | 402 | 0.0025 | -53 | c.121 others(68): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132315232 | GGAGCCTC others(46): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01978.hp1 HG02055.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0003t0001g0006 others(11): Show |
14 | 182 | 0.0769 | -53 | c.238 others(72): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132315265 | TGTGTCCA others(46): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02615.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0014others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0014t0003others(2): Show | a0001c0001t0001g0143 a0001c0002t0001g0152 a0001c0014t0003g0153 others(2): Show |
5 | 182 | 0.0275 | -53 | c.238 others(72): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77246797 | CCACACCT others(46): Show |
C | upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0283 | 1 | 364 | 0.0027 | -53 | c.-37 others(64): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3050 | chr18 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477256 | TTCTTTCT others(46): Show |
T | upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0256 | 1 | 373 | 0.0027 | -53 | c.-14 others(64): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1262 | chr20 | TogoVar | |||||||
GDF2_chr10_47317454_47332588 | 47328354 | TGTGTGTG others(46): Show |
T | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 422 | 0.0024 | -53 | c.*25 others(64): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 767 | chr10 | TogoVar | |||||||
GDF2_chr10_47317454_47332588 | 47329476 | GGTGTGTG others(46): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01361.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 422 | 0.0095 | -53 | c.*36 others(64): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 1889 | chr10 | TogoVar | |||||||
GFI1B_chr9_132973694_132996687 | 132986227 | TGAGTTCT others(46): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0116 a0001c0001t0002g0162 a0001c0001t0002g0239 others(1): Show |
4 | 474 | 0.0084 | -53 | c.-20 others(68): Show |
GFI1B | ENSG00000165702.15 | transcript | ENST00000372122.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605585 | TATAATAT others(46): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG03453.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0023a0002c0004t0008 | a0002c0002t0023g0255 a0002c0004t0008g0256 |
2 | 400 | 0.0050 | -53 | c.-42 others(72): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24605641 | TATAATAT others(46): Show |
T | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0157 | 1 | 423 | 0.0024 | -53 | c.-42 others(72): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | |||||||
GGT5_chr22_24214660_24250082 | 24241757 | AATTATAG others(46): Show |
A | intron_variant | MODIFIER | HG01070.hp1 | a0003 | a0003c0030 | a0003c0030t0003 | a0003c0030t0003g0344 | 1 | 418 | 0.0024 | -53 | c.173 others(70): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | |||||||
GGT6_chr17_4551927_4565577 | 4553090 | GGGATTAC others(46): Show |
G | downstream_gene_variant | MODIFIER | NA18941.hp2 | a0012 | a0012c0018 | a0012c0018t0027 | a0012c0018t0027g0065 | 1 | 456 | 0.0022 | -53 | c.*48 others(64): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 3836 | chr17 | TogoVar | |||||||
GMPR_chr6_16233587_16300549 | 16266338 | CGCCACCT others(46): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG01928.hp1 HG01934.hp2 others(19): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0002 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(15): Show |
22 | 326 | 0.0675 | -53 | c.466 others(70): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GOLGA1_chr9_124873275_124946083 | 124933422 | TTATTTAT others(46): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0327 | 1 | 372 | 0.0027 | -53 | c.136 others(70): Show |
GOLGA1 | ENSG00000136935.14 | transcript | ENST00000373555.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
GOLGA6L1_chr15_23122066_23141822 | 23136613 | GGGAGGTG others(46): Show |
G | frameshift_variant | HIGH | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 204 | 0.0049 | -53 | c.66_ others(59): Show |
p.Thr others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 209/3822 | 66/2007 | 22/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136631 | GGGAGGTG others(46): Show |
G | frameshift_variant | HIGH | NA19077.hp1 | a0046 | a0046c0056 | a0046c0056t0025 | a0046c0056t0025g0125 | 1 | 204 | 0.0049 | -53 | c.48_ others(59): Show |
p.Thr others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 191/3822 | 48/2007 | 16/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136652 | AGGTGGGG others(46): Show |
A | frameshift_variant | HIGH | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 204 | 0.0049 | -53 | c.27_ others(58): Show |
p.Thr others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 170/3822 | 27/2007 | 9/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136656 | GGGGATGG others(46): Show |
G | frameshift_variant | HIGH | NA18612.hp2 | a0044 | a0044c0029 | a0044c0029t0016 | a0044c0029t0016g0029 | 1 | 204 | 0.0049 | -53 | c.23_ others(58): Show |
p.His others(3): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 166/3822 | 23/2007 | 8/668 | chr15 | TogoVar | |||
GOLM2_chr15_44283719_44420758 | 44288506 | GAGAGCGA others(46): Show |
G | upstream_gene_variant | MODIFIER | HG02965.hp2 HG03927.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0091 a0001c0001t0005g0119 a0001c0001t0007g0121 |
3 | 144 | 0.0208 | -53 | c.-52 others(62): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 212 | chr15 | TogoVar |