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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0037 | 1 | 54 | 0.0185 | 49 | c.182 others(70): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 54 | 0.0185 | 49 | c.182 others(70): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
FBXO33_chr14_39392684_39437433 | 39432564 | C | CGCGGGCG others(42): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0082 | 1 | 387 | 0.0026 | 49 | c.-40 others(58): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 132 | chr14 | TogoVar | |||||||
FCHSD2_chr11_72831745_73147318 | 72993320 | A | ACTAGTTC others(42): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 288 | 0.0035 | 49 | c.388 others(66): Show |
FCHSD2 | ENSG00000137478.15 | transcript | ENST00000409418.9 | protein_coding | 5/19 | chr11 | TogoVar | |||||||
FCN1_chr9_134898232_134922912 | 134920976 | T | TCAAAAAA others(42): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0059 | a0001c0003t0059g0048 | 1 | 431 | 0.0023 | 49 | c.-31 others(60): Show |
FCN1 | ENSG00000085265.12 | transcript | ENST00000371806.4 | protein_coding | 3065 | chr9 | TogoVar | |||||||
FDFT1_chr8_11797741_11844298 | 11829884 | T | TTTTTTTT others(42): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 453 | 0.0022 | 49 | c.703 others(64): Show |
FDFT1 | ENSG00000079459.14 | transcript | ENST00000220584.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FER1L5_chr2_96637764_96709883 | 96659388 | T | TCTTTCTT others(42): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0151 | 1 | 224 | 0.0045 | 49 | c.748 others(64): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FGD6_chr12_95071749_95222467 | 95148910 | A | ATATATTA others(42): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01433.hp1 HG01952.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0031 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 others(3): Show |
6 | 278 | 0.0216 | 49 | c.268 others(68): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 5/20 | chr12 | TogoVar | |||||||
FGF13_chrX_138609727_138716717 | 138623405 | G | GAAAGGAT others(42): Show |
3_prime_UTR_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0081 | 1 | 238 | 0.0042 | 49 | c.*94 others(60): Show |
FGF13 | ENSG00000129682.16 | transcript | ENST00000315930.11 | protein_coding | 5/5 | 9444 | chrX | TogoVar | ||||||
FGF18_chr5_171414647_171462626 | 171461629 | C | CTTTCTTT others(42): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 196 | 0.0051 | 49 | c.*48 others(60): Show |
FGF18 | ENSG00000156427.8 | transcript | ENST00000274625.6 | protein_coding | 4004 | chr5 | TogoVar | |||||||
FGGY_chr1_59292094_59767730 | 59491040 | T | TTTCCTTT others(42): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0109 | 1 | 153 | 0.0065 | 49 | c.671 others(68): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FGGY_chr1_59292094_59767730 | 59491041 | T | TTCCTTTC others(42): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02723.hp2 NA20129.hp2 |
a0001a0002 | a0001c0001a0001c0015a0002c0004 | a0001c0001t0001a0001c0015t0002a0002c0004t0002 | a0001c0001t0001g0133 a0001c0015t0002g0132 a0002c0004t0002g0116 |
3 | 29 | 0.1034 | 49 | c.671 others(68): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 6/15 | chr1 | TogoVar | |||||||
FGGY_chr1_59292094_59767730 | 59491041 | T | TTCCTTTC others(42): Show |
intron_variant | MODIFIER | HG02738.hp2 NA19063.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0002c0002t0001g0050 |
3 | 29 | 0.1034 | 49 | c.671 others(68): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 6/15 | chr1 | TogoVar | |||||||
FHIP1A_chr4_151404176_151675503 | 151526418 | T | TGGCTGGC others(42): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01978.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0022a0001c0001t0040others(6): Show | a0001c0001t0006g0044 a0001c0001t0006g0063 a0001c0001t0022g0006 others(9): Show |
12 | 245 | 0.0490 | 49 | c.-12 others(70): Show |
FHIP1A | ENSG00000164142.16 | transcript | ENST00000435205.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FHIP1A_chr4_151404176_151675503 | 151526479 | C | CGGGGGGC others(42): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(64): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0006a0001c0001t0022a0001c0001t0046others(14): Show | a0001c0001t0006g0032 a0001c0001t0006g0038 a0001c0001t0006g0056 others(64): Show |
67 | 235 | 0.2851 | 49 | c.-12 others(70): Show |
FHIP1A | ENSG00000164142.16 | transcript | ENST00000435205.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FHIP1A_chr4_151404176_151675503 | 151526495 | C | CCACCTCC others(42): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 HG02886.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0026a0001c0001t0027a0001c0001t0048others(2): Show | a0001c0001t0026g0012 a0001c0001t0027g0011 a0001c0001t0048g0007 others(2): Show |
5 | 248 | 0.0202 | 49 | c.-12 others(70): Show |
FHIP1A | ENSG00000164142.16 | transcript | ENST00000435205.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 59986716 | A | ATATAATA others(42): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03225.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0027 a0001c0001t0002g0046 a0001c0001t0015g0009 |
3 | 46 | 0.0652 | 49 | c.279 others(68): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
FKBP2_chr11_64236095_64249132 | 64237126 | G | GAGAGAGA others(42): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 NA18980.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 236 | 0.0127 | 49 | c.-40 others(60): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3968 | chr11 | TogoVar | |||||||
FLT1_chr13_28295346_28500128 | 28412350 | C | CTTTCTTT others(42): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 14 | 0.0714 | 49 | c.143 others(68): Show |
FLT1 | ENSG00000102755.13 | transcript | ENST00000282397.9 | protein_coding | 10/29 | chr13 | TogoVar | |||||||
FLT1_chr13_28295346_28500128 | 28412350 | C | CTTTCTTT others(42): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 14 | 0.0714 | 49 | c.143 others(68): Show |
FLT1 | ENSG00000102755.13 | transcript | ENST00000282397.9 | protein_coding | 10/29 | chr13 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180642124 | G | GTGAACCT others(42): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0366 | 1 | 195 | 0.0051 | 49 | c.58+ others(64): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
FMO2_chr1_171180300_171217686 | 171181768 | A | ATAAGGCA others(42): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0009 | 1 | 360 | 0.0028 | 49 | c.-35 others(60): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 3531 | chr1 | TogoVar | |||||||
FN1_chr2_215355865_215441068 | 215401263 | G | GAAGGAAG others(42): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0157 | 1 | 182 | 0.0055 | 49 | c.325 others(68): Show |
FN1 | ENSG00000115414.21 | transcript | ENST00000354785.11 | protein_coding | 20/45 | chr2 | TogoVar | |||||||
FOXI1_chr5_170100897_170114734 | 170105356 | G | GGGGGGGG others(42): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 244 | 0.0041 | 49 | c.-60 others(58): Show |
FOXI1 | ENSG00000168269.10 | transcript | ENST00000306268.8 | protein_coding | 540 | chr5 | TogoVar | |||||||
FOXI1_chr5_170100897_170114734 | 170105356 | G | GGGGGGGG others(42): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 244 | 0.0041 | 49 | c.-60 others(58): Show |
FOXI1 | ENSG00000168269.10 | transcript | ENST00000306268.8 | protein_coding | 540 | chr5 | TogoVar | |||||||
FOXI1_chr5_170100897_170114734 | 170105394 | A | AGAGAGAG others(42): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | 49 | c.-56 others(58): Show |
FOXI1 | ENSG00000168269.10 | transcript | ENST00000306268.8 | protein_coding | 502 | chr5 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586209 | A | AGGGGAAA others(42): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0259 a0001c0001t0005g0216 |
2 | 249 | 0.0080 | 49 | c.157 others(64): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586308 | G | GGGGGGAA others(42): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0198 a0001c0001t0005g0199 |
2 | 276 | 0.0072 | 49 | c.157 others(66): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586398 | G | GGGCCGGG others(42): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 292 | 0.0034 | 49 | c.157 others(66): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586449 | C | CCGGGGGG others(42): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0206 | 1 | 244 | 0.0041 | 49 | c.157 others(66): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586474 | A | AGACCACA others(42): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0120 | 1 | 296 | 0.0034 | 49 | c.157 others(66): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FRMD3_chr9_83239622_83543401 | 83357115 | T | TAATATAT others(42): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0035 | a0001c0001t0002g0153 a0001c0001t0035g0001 |
2 | 240 | 0.0083 | 49 | c.296 others(66): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 3/13 | chr9 | TogoVar | |||||||
FRMD3_chr9_83239622_83543401 | 83407847 | C | CTCTCTCT others(42): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18948.hp2 NA19084.hp2 |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0006a0001c0002t0032a0004c0006t0001 | a0001c0001t0006g0069 a0001c0002t0032g0113 a0004c0006t0001g0183 |
3 | 219 | 0.0137 | 49 | c.148 others(68): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
FRY_chr13_32026774_32304125 | 32201641 | T | TTGCATCA others(42): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0171 | 1 | 234 | 0.0043 | 49 | c.374 others(66): Show |
FRY | ENSG00000073910.23 | transcript | ENST00000542859.6 | protein_coding | 29/60 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46158436 | A | AGAAATGC others(42): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0016 | a0016c0022 | a0016c0022t0002 | a0016c0022t0002g0073 | 1 | 228 | 0.0044 | 49 | c.-29 others(60): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 2858 | chr21 | TogoVar | |||||||
FTO_chr16_53699156_54126941 | 54058946 | T | TAAAACAA others(42): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 192 | 0.0052 | 49 | c.136 others(70): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 8/8 | chr16 | TogoVar | |||||||
FXN_chr9_69030752_69084076 | 69037284 | A | AAAAGAAG others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01070.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0301 a0001c0001t0006g0338 a0001c0001t0006g0339 |
3 | 15 | 0.2000 | 49 | c.165 others(66): Show |
FXN | ENSG00000165060.15 | transcript | ENST00000484259.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78407651 | A | AAGTAAGT others(42): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01071.hp1 others(30): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0003a0001c0001t0010a0001c0002t0002others(5): Show | a0001c0001t0003g0170 a0001c0001t0010g0066 a0001c0001t0010g0067 others(30): Show |
33 | 277 | 0.1191 | 49 | c.75+ others(64): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
GAB2_chr11_78210293_78422820 | 78407658 | T | TAAGAAAG others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02083.hp1 NA19003.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0002t0036a0001c0003t0027 | a0001c0002t0005g0082 a0001c0002t0036g0083 a0001c0003t0027g0026 |
3 | 81 | 0.0370 | 49 | c.75+ others(64): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98304874 | T | TGATCTTC others(42): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(29): Show | a0001c0001t0003g0116 a0001c0001t0004g0013 a0001c0001t0013g0042 others(45): Show |
48 | 162 | 0.2963 | 49 | c.222 others(68): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 15/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98304905 | A | AGGACTAT others(42): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 111 | 0.0090 | 49 | c.222 others(68): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 15/18 | chr9 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46377768 | C | CGGGAGGG others(42): Show |
intron_variant | MODIFIER | NA18953.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0110 a0001c0001t0009g0109 |
2 | 247 | 0.0081 | 49 | c.187 others(66): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
GABRA3_chrX_152161234_152456315 | 152182674 | C | CTATATAT others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0198 | 1 | 200 | 0.0050 | 49 | c.114 others(68): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27004087 | T | TACCTCCC others(42): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0010 | a0001c0010t0017 | a0001c0010t0017g0003 | 1 | 91 | 0.0110 | 49 | c.203 others(68): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805963 | T | TCTGCAGG others(42): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 245 | 0.0041 | 49 | c.*17 others(60): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1677 | chr2 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49294144 | T | TAAATAAA others(42): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 346 | 0.0029 | 49 | c.967 others(66): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38686227 | T | TCCTTCCT others(42): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0011g0172 |
3 | 286 | 0.0105 | 49 | c.553 others(66): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNS_chr16_88808734_88861947 | 88826304 | C | CGGTGTAT others(42): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01123.hp2 HG01175.hp1 others(17): Show |
a0002 | a0002c0003a0002c0026 | a0002c0003t0001a0002c0003t0020a0002c0026t0001 | a0002c0003t0001g0004 a0002c0003t0001g0026 a0002c0003t0001g0160 others(16): Show |
20 | 402 | 0.0498 | 49 | c.113 others(66): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132304556 | C | CACCCTCG others(42): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0116 | 1 | 182 | 0.0055 | 49 | c.239 others(68): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALP_chr19_56171008_56190775 | 56176509 | G | GGGGTGAG others(42): Show |
intron_variant | MODIFIER | HG02698.hp2 HG02896.hp1 HG02897.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0003c0004t0003 | a0001c0001t0002g0051 a0001c0001t0002g0245 a0001c0001t0002g0246 others(6): Show |
10 | 374 | 0.0267 | 49 | c.-40 others(64): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |