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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAS2L3_chr12_100568684_100633288 | 100572812 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02738.hp1 HG03490.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0005 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(3): Show |
6 | 402 | 0.0149 | -15 | c.-11 others(26): Show |
GAS2L3 | ENSG00000139354.11 | transcript | ENST00000547754.6 | protein_coding | 871 | chr12 | TogoVar | |||||||
GAS2L3_chr12_100568684_100633288 | 100596089 | CTCTACTA others(8): Show |
C | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 402 | 0.0025 | -15 | c.18+ others(30): Show |
GAS2L3 | ENSG00000139354.11 | transcript | ENST00000547754.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GAS2L3_chr12_100568684_100633288 | 100599662 | TTATTCAT others(8): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 402 | 0.0025 | -15 | c.19- others(28): Show |
GAS2L3 | ENSG00000139354.11 | transcript | ENST00000547754.6 | protein_coding | 3/9 | chr12 | TogoVar | |||||||
GAS2_chr11_22661611_22818001 | 22686553 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0073 a0001c0001t0001g0251 others(5): Show |
8 | 272 | 0.0294 | -15 | c.267 others(30): Show |
GAS2 | ENSG00000148935.12 | transcript | ENST00000454584.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113836270 | AGGAGGGG others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03130.hp2 |
a0001a0006 | a0001c0001a0006c0023 | a0001c0001t0001a0006c0023t0003 | a0001c0001t0001g0048 a0006c0023t0003g0002 |
2 | 143 | 0.0140 | -15 | c.590 others(30): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
GAS7_chr17_9905606_10203606 | 10016751 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0140 a0001c0001t0005g0141 |
2 | 218 | 0.0092 | -15 | c.304 others(32): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
GASK1B_chr4_158119474_158178025 | 158121933 | CCAGACCA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01496.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0162 |
3 | 292 | 0.0103 | -15 | c.*54 others(26): Show |
GASK1B | ENSG00000164125.16 | transcript | ENST00000585682.6 | protein_coding | 2540 | chr4 | TogoVar | |||||||
GASK1B_chr4_158119474_158178025 | 158141920 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG01106.hp1 others(21): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(5): Show | a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0061 others(18): Show |
24 | 292 | 0.0822 | -15 | c.112 others(36): Show |
GASK1B | ENSG00000164125.16 | transcript | ENST00000585682.6 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477143 | TTTCTTTC others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02280.hp1 HG02630.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(8): Show | a0001c0001t0001g0280 a0001c0001t0003g0277 a0001c0003t0001g0276 others(10): Show |
13 | 382 | 0.0340 | -15 | c.-12 others(26): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1149 | chr20 | TogoVar | |||||||
GATA6_chr18_22164589_22207528 | 22177944 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 286 | 0.0070 | -15 | c.130 others(32): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GATAD1_chr7_92442482_92465075 | 92447840 | CGGCGCGG others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG02155.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0034 | 1 | 330 | 0.0030 | -15 | c.117 others(22): Show |
p.Gly others(11): Show |
GATAD1 | ENSG00000157259.8 | transcript | ENST00000287957.5 | protein_coding | 1/5 | 365/4571 | 117/810 | 39/269 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
GATAD2A_chr19_19400675_19513932 | 19487597 | TCCCCCGA others(8): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0005 | a0001c0001t0005g0013 a0001c0001t0005g0016 a0001c0001t0005g0017 others(5): Show |
8 | 298 | 0.0269 | -15 | c.270 others(32): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GATAD2B_chr1_153799725_153927972 | 153815081 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0036 | 1 | 349 | 0.0029 | -15 | c.121 others(34): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153833817 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02451.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0025others(3): Show | a0001c0001t0004g0347 a0001c0001t0016g0342 a0001c0001t0025g0345 others(5): Show |
8 | 349 | 0.0229 | -15 | c.-1- others(30): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153898317 | AAAAAAAG others(8): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0161 | 1 | 349 | 0.0029 | -15 | c.-2+ others(32): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATC_chr12_120441444_120468749 | 120441952 | AATTATTA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03486.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 a0001c0001t0005g0106 |
2 | 408 | 0.0049 | -15 | c.-45 others(26): Show |
GATC | ENSG00000257218.6 | transcript | ENST00000551765.6 | protein_coding | 4491 | chr12 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 763071 | AGTCTTAC others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01192.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0031a0001c0001t0058 | a0001c0001t0005g0022 a0001c0001t0031g0140 a0001c0001t0058g0102 |
3 | 430 | 0.0070 | -15 | c.*78 others(26): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 4150 | chr11 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 763182 | TTCACCTG others(8): Show |
T | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0072 | 1 | 430 | 0.0023 | -15 | c.*77 others(26): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 4039 | chr11 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 763251 | ATCCCCGC others(8): Show |
A | downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0034 | 1 | 430 | 0.0023 | -15 | c.*76 others(26): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 3970 | chr11 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 763299 | TCCCCGCC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0135 a0001c0001t0006g0031 others(41): Show |
133 | 430 | 0.3093 | -15 | c.*75 others(26): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 3922 | chr11 | TogoVar | |||||||
GBE1_chr3_81484703_81766645 | 81714544 | ATATAATT others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 | 1 | 304 | 0.0033 | -15 | c.144 others(32): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GBF1_chr10_102240532_102387896 | 102293764 | GTTTTGTG others(8): Show |
G | intron_variant | MODIFIER | HG01928.hp1 HG01934.hp1 HG02074.hp2 others(7): Show |
a0001a0014 | a0001c0001a0014c0020 | a0001c0001t0001a0014c0020t0003 | a0001c0001t0001g0154 a0001c0001t0001g0175 a0001c0001t0001g0179 others(7): Show |
10 | 330 | 0.0303 | -15 | c.163 others(34): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GBP1_chr1_89047319_89070208 | 89064207 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG02056.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0174 | 1 | 430 | 0.0023 | -15 | c.-20 others(30): Show |
GBP1 | ENSG00000117228.11 | transcript | ENST00000370473.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GCAT_chr22_37802934_37821897 | 37821384 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02572.hp2 |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0032 | 2 | 390 | 0.0051 | -15 | c.*46 others(26): Show |
GCAT | ENSG00000100116.17 | transcript | ENST00000248924.11 | protein_coding | 4488 | chr22 | TogoVar | |||||||
GCA_chr2_162339132_162368123 | 162345093 | ATGGTGGT others(8): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0136 | 1 | 366 | 0.0027 | -15 | c.27+ others(28): Show |
GCA | ENSG00000115271.11 | transcript | ENST00000437150.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GCH1_chr14_54837017_54907826 | 54870335 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 346 | 0.0029 | -15 | c.344 others(32): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880486 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 346 | 0.0029 | -15 | c.344 others(34): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880539 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 346 | 0.0029 | -15 | c.344 others(34): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880601 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 |
3 | 346 | 0.0087 | -15 | c.344 others(34): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880776 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA18957.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 a0001c0001t0001g0202 |
2 | 346 | 0.0058 | -15 | c.344 others(34): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880795 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 346 | 0.0029 | -15 | c.344 others(34): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCK_chr7_44139275_44194439 | 44174854 | CTCTTCTT others(8): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG02486.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0064 a0001c0001t0001g0142 a0001c0001t0005g0113 others(1): Show |
4 | 392 | 0.0102 | -15 | c.45+ others(32): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
GCLC_chr6_53492341_53550101 | 53517249 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02895.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0013a0005c0010 | a0001c0001t0005a0001c0001t0007a0001c0001t0034others(3): Show | a0001c0001t0005g0276 a0001c0001t0007g0371 a0001c0001t0034g0127 others(3): Show |
6 | 426 | 0.0141 | -15 | c.447 others(32): Show |
GCLC | ENSG00000001084.13 | transcript | ENST00000650454.1 | protein_coding | 3/15 | chr6 | TogoVar | |||||||
GCM1_chr6_53121961_53153841 | 53142000 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG02132.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0219 a0001c0001t0014g0036 |
2 | 412 | 0.0049 | -15 | c.75+ others(30): Show |
GCM1 | ENSG00000137270.11 | transcript | ENST00000259803.8 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
GCN1_chr12_120122202_120199715 | 120124754 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02280.hp2 others(12): Show |
a0001 | a0001c0004a0001c0014a0001c0018others(3): Show | a0001c0004t0001a0001c0014t0001a0001c0018t0001others(3): Show | a0001c0004t0001g0018 a0001c0004t0001g0027 a0001c0004t0001g0081 others(12): Show |
15 | 312 | 0.0481 | -15 | c.*30 others(26): Show |
GCN1 | ENSG00000089154.11 | transcript | ENST00000300648.7 | protein_coding | 2447 | chr12 | TogoVar | |||||||
GCN1_chr12_120122202_120199715 | 120195844 | CGCTTGAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02572.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0231 a0001c0011t0001g0247 a0001c0011t0001g0248 others(1): Show |
4 | 312 | 0.0128 | -15 | c.-11 others(26): Show |
GCN1 | ENSG00000089154.11 | transcript | ENST00000300648.7 | protein_coding | 1130 | chr12 | TogoVar | |||||||
GCN1_chr12_120122202_120199715 | 120196874 | TGGCAGCA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058 | 1 | 312 | 0.0032 | -15 | c.-21 others(26): Show |
GCN1 | ENSG00000089154.11 | transcript | ENST00000300648.7 | protein_coding | 2160 | chr12 | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10537712 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0008 | 1 | 324 | 0.0031 | -15 | c.925 others(32): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10563768 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 324 | 0.0031 | -15 | c.925 others(34): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10563770 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0314 | 1 | 324 | 0.0031 | -15 | c.925 others(34): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10563772 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0213 | 1 | 324 | 0.0031 | -15 | c.925 others(34): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10563774 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0003g0235 others(2): Show |
5 | 324 | 0.0154 | -15 | c.925 others(34): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10563770 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0330 | 1 | 344 | 0.0029 | -15 | c.919 others(32): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10563772 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0301 | 1 | 344 | 0.0029 | -15 | c.919 others(32): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10563774 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0004g0275 others(2): Show |
5 | 344 | 0.0145 | -15 | c.919 others(32): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCSH_chr16_81076945_81101395 | 81079750 | AAAAAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01433.hp2 HG01952.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0002a0001c0001t0012a0002c0002t0002others(1): Show | a0001c0001t0002g0094 a0001c0001t0012g0090 a0002c0002t0002g0002 others(3): Show |
12 | 354 | 0.0339 | -15 | c.*31 others(26): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 2194 | chr16 | TogoVar | |||||||
GCSH_chr16_81076945_81101395 | 81086162 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048 | 1 | 354 | 0.0028 | -15 | c.292 others(32): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 3/4 | chr16 | TogoVar | |||||||
GC_chr4_71736697_71789079 | 71754831 | TCCCAACA others(8): Show |
T | intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 388 | 0.0026 | -15 | c.116 others(32): Show |
GC | ENSG00000145321.13 | transcript | ENST00000273951.13 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
GDAP1L1_chr20_44242308_44285947 | 44276429 | AAAGAAAG others(8): Show |
A | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 392 | 0.0026 | -15 | c.761 others(32): Show |
GDAP1L1 | ENSG00000124194.17 | transcript | ENST00000342560.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GDAP2_chr1_117858485_117934621 | 117915832 | TTGACATA others(8): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 364 | 0.0028 | -15 | c.316 others(32): Show |
GDAP2 | ENSG00000196505.11 | transcript | ENST00000369443.10 | protein_coding | 3/13 | chr1 | TogoVar |