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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLB1_chr3_32991617_33102146 | 33031635 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 NA18948.hp1 others(3): Show |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0001a0002c0003t0001 | a0001c0006t0001g0210a0002c0003t0001g0258a0002c0003t0001g0266others(3): Show | 6 | 394 | 0.0152 | -9 | c.106 others(28): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031637 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG02074.hp2 NA18943.hp2 NA18945.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0094a0001c0001t0001g0103a0001c0001t0001g0132others(4): Show | 7 | 394 | 0.0178 | -9 | c.106 others(28): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031639 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG01496.hp2 HG02004.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0044a0001c0001t0001g0073a0001c0001t0001g0081others(13): Show | 16 | 394 | 0.0406 | -9 | c.106 others(28): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33056227 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00642.hp1 others(25): Show |
a0001 | a0001c0001a0001c0010a0001c0011 | a0001c0001t0001a0001c0010t0001a0001c0011t0001 | a0001c0001t0001g0056a0001c0001t0001g0108a0001c0001t0001g0128others(25): Show | 28 | 394 | 0.0711 | -9 | c.733 others(26): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 6/15 | chr3 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 7976496 | AAAGGAAA others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp1 HG02965.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0087a0001c0001t0089a0001c0006t0088others(2): Show | a0001c0001t0087g0376a0001c0001t0089g0378a0001c0006t0088g0377others(4): Show | 7 | 416 | 0.0168 | -9 | c.457 others(26): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLCCI1_chr7_7963796_8094080 | 8006776 | GCAGGCCC others(2): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01074.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230a0001c0001t0001g0263a0001c0001t0001g0267others(2): Show | 5 | 416 | 0.0120 | -9 | c.609 others(26): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLCCI1_chr7_7963796_8094080 | 8033527 | TTATAACT others(2): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02698.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0037 | a0001c0001t0001g0249a0001c0001t0001g0265a0001c0001t0008g0258others(2): Show | 5 | 416 | 0.0120 | -9 | c.696 others(28): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLDC_chr9_6527467_6650729 | 6619146 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00621.hp1 others(101): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0129a0001c0001t0001g0168a0001c0001t0001g0170others(101): Show | 104 | 342 | 0.3041 | -9 | c.470 others(26): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 3/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6633821 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(82): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(21): Show | a0001c0001t0001g0097a0001c0001t0001g0105a0001c0001t0001g0106others(81): Show | 85 | 342 | 0.2485 | -9 | c.334 others(28): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLDN_chr15_51336655_51413000 | 51362484 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01109.hp2 others(75): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0001g0046a0001c0001t0001g0105a0001c0001t0001g0107others(73): Show | 78 | 412 | 0.1893 | -9 | c.364 others(28): Show |
GLDN | ENSG00000186417.15 | transcript | ENST00000335449.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GLE1_chr9_128499719_128547288 | 128544392 | ATAAATAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp1 HG03516.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0103a0001c0001t0001g0301 | 3 | 360 | 0.0083 | -9 | c.*32 others(20): Show |
GLE1 | ENSG00000119392.16 | transcript | ENST00000309971.9 | protein_coding | 2105 | chr9 | TogoVar | ||||||
GLI2_chr2_120730868_120997653 | 120859452 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00597.hp1 others(48): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0007others(7): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(27): Show | a0001c0002t0001g0040a0001c0002t0001g0042a0001c0002t0001g0057others(48): Show | 51 | 160 | 0.3188 | -9 | c.148 others(28): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLI3_chr7_41955949_42242209 | 42238016 | CCTCCTCC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp2 NA18906.hp1 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0006a0002c0002t0002a0004c0004t0001 | a0001c0001t0006g0097a0002c0002t0002g0098a0004c0004t0001g0096 | 3 | 158 | 0.0190 | -9 | c.-10 others(20): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 808 | chr7 | TogoVar | ||||||
GLI4_chr8_143262445_143281931 | 143280751 | GCCCCCAG others(2): Show |
G | downstream_gene_variant | MODIFIER | NA18962.hp2 NA19000.hp2 NA19065.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 4 | 394 | 0.0102 | -9 | c.*39 others(20): Show |
GLI4 | ENSG00000250571.7 | transcript | ENST00000340042.2 | protein_coding | 3821 | chr8 | TogoVar | ||||||
GLIPR1_chr12_75475755_75508863 | 75481357 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00621.hp1 others(88): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(9): Show | a0001c0001t0003g0002a0001c0001t0003g0003a0001c0001t0003g0010others(69): Show | 91 | 362 | 0.2514 | -9 | c.174 others(24): Show |
GLIPR1 | ENSG00000139278.10 | transcript | ENST00000266659.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLIS1_chr1_53501239_53744164 | 53688051 | ACCGGGGC others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01081.hp1 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0002c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0081a0001c0001t0001g0110a0001c0001t0001g0114others(43): Show | 46 | 236 | 0.1949 | -9 | c.259 others(28): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
GLIS1_chr1_53501239_53744164 | 53739183 | AGCCGCCG others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(143): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0002c0002others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0110others(143): Show | 146 | 236 | 0.6186 | -9 | c.-13 others(18): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 20 | chr1 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3873667 | AAAAATAA others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01981.hp2 HG02615.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0004a0001c0001t0018a0001c0001t0023others(2): Show | a0001c0001t0004g0081a0001c0001t0018g0088a0001c0001t0023g0023others(2): Show | 5 | 188 | 0.0266 | -9 | c.229 others(28): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3967010 | GCAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG03139.hp1 HG03225.hp1 |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0007a0006c0009t0004 | a0002c0002t0007g0074a0006c0009t0004g0028 | 2 | 188 | 0.0106 | -9 | c.171 others(30): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3976795 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02895.hp2 HG02896.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0013others(2): Show | a0001c0001t0002g0138a0001c0001t0006g0083a0001c0001t0006g0084others(3): Show | 6 | 188 | 0.0319 | -9 | c.171 others(30): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 4084286 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0013a0001c0001t0046a0001c0001t0057others(1): Show | a0001c0001t0013g0051a0001c0001t0046g0079a0001c0001t0057g0089others(1): Show | 4 | 188 | 0.0213 | -9 | c.171 others(30): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | ||||||
GLO1_chr6_38670925_38708145 | 38693695 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02809.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0150a0001c0001t0001g0153 | 4 | 410 | 0.0098 | -9 | c.85- others(24): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
GLO1_chr6_38670925_38708145 | 38705367 | CTTTATTT others(2): Show |
C | upstream_gene_variant | MODIFIER | NA18967.hp2 NA18970.hp1 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0159 | 4 | 410 | 0.0098 | -9 | c.-23 others(20): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 2223 | chr6 | TogoVar | ||||||
GLP2R_chr17_9820924_9897099 | 9844668 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01361.hp1 HG02055.hp2 others(12): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0007 | a0001c0001t0001a0001c0001t0004a0003c0004t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0039a0001c0001t0001g0116others(12): Show | 15 | 380 | 0.0395 | -9 | c.504 others(26): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GLP2R_chr17_9820924_9897099 | 9885148 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 NA19030.hp2 |
a0001a0010 | a0001c0001a0010c0016 | a0001c0001t0001a0010c0016t0001 | a0001c0001t0001g0027a0001c0001t0001g0139a0010c0016t0001g0307 | 3 | 380 | 0.0079 | -9 | c.128 others(28): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GLRA1_chr5_151817513_151929851 | 151821383 | CCTAAATG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(135): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(135): Show | 138 | 284 | 0.4859 | -9 | c.*12 others(20): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 1129 | chr5 | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14619566 | ACTACCTT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00609.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(6): Show | a0001c0001t0003g0035a0001c0001t0003g0037a0001c0001t0003g0038others(27): Show | 30 | 232 | 0.1293 | -9 | c.930 others(28): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLRA2_chrX_14524536_14736812 | 14730941 | CACACACA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03516.hp1 NA19006.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0068a0001c0001t0015g0103a0001c0001t0015g0112 | 3 | 232 | 0.0129 | -9 | c.*45 others(18): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 9/9 | 458 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
GLRA3_chr4_174631920_174834247 | 174689756 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01346.hp1 HG01361.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(10): Show | a0001c0001t0001g0019a0001c0001t0003g0129a0001c0001t0003g0171others(15): Show | 18 | 296 | 0.0608 | -9 | c.575 others(26): Show |
GLRA3 | ENSG00000145451.13 | transcript | ENST00000274093.8 | protein_coding | 5/9 | chr4 | TogoVar | ||||||
GLRX_chr5_95808849_95827726 | 95827133 | CCGTTTGC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0040a0001c0001t0003g0107a0001c0001t0003g0109others(2): Show | 6 | 420 | 0.0143 | -9 | c.-44 others(20): Show |
GLRX | ENSG00000173221.14 | transcript | ENST00000237858.11 | protein_coding | 4408 | chr5 | TogoVar | ||||||
GLS2_chr12_56465952_56493161 | 56476187 | TTTGTCAC others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(302): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(123): Show | 305 | 362 | 0.8425 | -9 | c.838 others(24): Show |
GLS2 | ENSG00000135423.13 | transcript | ENST00000311966.9 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
GLS_chr2_190875821_190970552 | 190880872 | CGCAGCAG others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02071.hp1 HG02280.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0015a0001c0001t0016a0001c0001t0048others(4): Show | a0001c0001t0015g0025a0001c0001t0015g0303a0001c0001t0015g0305others(11): Show | 16 | 380 | 0.0421 | -9 | c.-17 others(18): Show |
GLS | ENSG00000115419.14 | transcript | ENST00000320717.8 | protein_coding | 1/18 | 165 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
GLT1D1_chr12_128848478_128989968 | 128874088 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG03098.hp1 NA18952.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0176a0001c0001t0001g0225 | 3 | 320 | 0.0094 | -9 | c.69- others(24): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT6D1_chr9_135618648_135644540 | 135620223 | ACTCCCCC others(2): Show |
A | downstream_gene_variant | MODIFIER | NA18949.hp2 NA18954.hp1 NA19078.hp2 |
a0002 | a0002c0010 | a0002c0010t0003 | a0002c0010t0003g0177a0002c0010t0003g0208a0002c0010t0003g0230 | 3 | 436 | 0.0069 | -9 | c.*38 others(20): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3424 | chr9 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104021867 | AAAGAAGA others(2): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02451.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0088others(1): Show | 4 | 416 | 0.0096 | -9 | c.-16 others(26): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104021947 | AGAAGAAG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00558.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0089a0001c0001t0001g0125a0001c0001t0002g0373others(8): Show | 11 | 416 | 0.0264 | -9 | c.-16 others(26): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104021977 | GGAAGAGG others(2): Show |
G | intron_variant | MODIFIER | HG02886.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0080 | 3 | 416 | 0.0072 | -9 | c.-16 others(26): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104022014 | GAAGAAGA others(2): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02280.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0037a0001c0001t0001g0044a0001c0001t0001g0063others(13): Show | 16 | 416 | 0.0385 | -9 | c.-16 others(26): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLUD1_chr10_87045202_87099843 | 87056115 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG00741.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0186a0001c0001t0001g0187a0001c0001t0001g0190others(15): Show | 18 | 334 | 0.0539 | -9 | c.149 others(28): Show |
GLUD1 | ENSG00000148672.10 | transcript | ENST00000277865.5 | protein_coding | 11/12 | chr10 | TogoVar | ||||||
GLYATL3_chr6_49494923_49533078 | 49525560 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG01978.hp2 HG02074.hp2 others(28): Show |
a0001a0003a0005others(1): Show | a0001c0002a0003c0001a0005c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(5): Show | a0001c0002t0001g0110a0001c0002t0001g0112a0001c0002t0002g0028others(26): Show | 31 | 380 | 0.0816 | -9 | c.441 others(24): Show |
GLYATL3 | ENSG00000203972.10 | transcript | ENST00000371197.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GLYCTK_chr3_52282828_52300257 | 52283990 | TTTGTTGT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG02735.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0004g0012 | 16 | 366 | 0.0437 | -9 | c.-39 others(20): Show |
GLYCTK | ENSG00000168237.18 | transcript | ENST00000436784.7 | protein_coding | 3837 | chr3 | TogoVar | ||||||
GLYR1_chr16_4798203_4852288 | 4808270 | CAGAGAAT others(2): Show |
C | intron_variant | MODIFIER | HG02083.hp1 HG02135.hp2 NA18747.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0116a0001c0001t0003g0118a0001c0001t0003g0154others(3): Show | 6 | 352 | 0.0171 | -9 | c.158 others(28): Show |
GLYR1 | ENSG00000140632.17 | transcript | ENST00000321919.14 | protein_coding | 15/15 | chr16 | TogoVar | ||||||
GLYR1_chr16_4798203_4852288 | 4810699 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0149a0001c0001t0002g0153a0001c0001t0003g0004others(52): Show | 58 | 352 | 0.1648 | -9 | c.158 others(26): Show |
GLYR1 | ENSG00000140632.17 | transcript | ENST00000321919.14 | protein_coding | 15/15 | chr16 | TogoVar | ||||||
GM2A_chr5_151248185_151275440 | 151252585 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG02071.hp2 HG02080.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0013a0002c0003t0003others(3): Show | a0001c0001t0002g0040a0001c0002t0013g0123a0002c0003t0003g0124others(8): Show | 18 | 412 | 0.0437 | -9 | c.-63 others(18): Show |
GM2A | ENSG00000196743.9 | transcript | ENST00000357164.4 | protein_coding | 599 | chr5 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1652582 | TTTATATA others(2): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0039a0001c0001t0002g0096 | 2 | 166 | 0.0121 | -9 | c.988 others(28): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1652655 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0023a0001c0001t0001g0027others(43): Show | 46 | 166 | 0.2771 | -9 | c.988 others(28): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1821611 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01175.hp1 HG02572.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0039a0001c0001t0001g0058others(7): Show | 10 | 166 | 0.0602 | -9 | c.772 others(28): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1999974 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | NA19010.hp2 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028a0001c0002t0001g0065 | 2 | 166 | 0.0121 | -9 | c.346 others(28): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | ||||||
GMFB_chr14_54469485_54493980 | 54489118 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG02451.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0003a0001c0001t0003g0006a0001c0001t0003g0008others(7): Show | 20 | 354 | 0.0565 | -9 | c.-20 others(18): Show |
GMFB | ENSG00000197045.14 | transcript | ENST00000358056.8 | protein_coding | 139 | chr14 | TogoVar | ||||||
GMPR2_chr14_24227929_24244242 | 24230218 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(84): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(7): Show | 87 | 420 | 0.2071 | -9 | c.-27 others(20): Show |
GMPR2 | ENSG00000100938.19 | transcript | ENST00000399440.7 | protein_coding | 2710 | chr14 | TogoVar |