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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3303): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0095 | 1 | 250 | 0.0040 | 3310 | c.-21 others(3327): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 323698 | G | GTGTGTAG others(3304): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0093 | 1 | 155 | 0.0065 | 3311 | c.-49 others(3322): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4903 | chrX | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3304): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 323 | 0.0031 | 3311 | c.-21 others(3322): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3304): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0022 | a0022c0038 | a0022c0038t0007 | a0022c0038t0007g0255 | 1 | 282 | 0.0036 | 3311 | c.258 others(3328): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3304): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0078 | 1 | 250 | 0.0040 | 3311 | c.-21 others(3328): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17876901 | G | GGGAGGTT others(3305): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148 | 1 | 274 | 0.0037 | 3312 | c.224 others(3331): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195780112 | G | GTGGTGTG others(3305): Show |
conservative_inframe_insertion | MODERATE | NA18947.hp2 | a0184 | a0184c0126 | a0184c0126t0001 | a0184c0126t0001g0089 | 1 | 249 | 0.0040 | 3312 | c.114 others(3323): Show |
p.Thr others(3327): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11579/16756 | 11467/16239 | 3823/5412 | chr3 | TogoVar | ||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(3305): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 279 | 0.0036 | 3312 | c.215 others(3329): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432060 | G | GGTGGTTA others(3305): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0310 | 1 | 376 | 0.0027 | 3312 | c.101 others(3329): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586196 | C | CAAAGGTG others(3306): Show |
splice_region_variant others(1): Show |
LOW | HG00597.hp2 | a0008 | a0008c0024 | a0008c0024t0002 | a0008c0024t0002g0056 | 1 | 308 | 0.0033 | 3313 | c.157 others(3326): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(3306): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0129 | 1 | 383 | 0.0026 | 3313 | c.-28 others(3324): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(3307): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033 | 1 | 214 | 0.0047 | 3314 | c.206 others(3333): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586538 | C | CAAAGGTG others(3308): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 308 | 0.0033 | 3315 | c.157 others(3332): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 323698 | G | GTGTGTAG others(3308): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0095 | 1 | 155 | 0.0065 | 3315 | c.-49 others(3326): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4903 | chrX | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64507003 | T | TCTGTCAC others(3309): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0011 | a0011c0001 | a0011c0001t0001 | a0011c0001t0001g0013 | 1 | 24 | 0.0417 | 3316 | c.564 others(3337): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3309): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 423 | 0.0024 | 3316 | c.*19 others(3327): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
ORC4_chr2_147925396_148025737 | 147943096 | T | TGAAAGTA others(3309): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0135 | 1 | 336 | 0.0030 | 3316 | c.849 others(3331): Show |
ORC4 | ENSG00000115947.14 | transcript | ENST00000392857.10 | protein_coding | 10/13 | chr2 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246498210 | T | TAAAAATA others(3309): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0091 | 1 | 150 | 0.0067 | 3316 | c.164 others(3333): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(3310): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 168 | 0.0060 | 3317 | c.206 others(3338): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EYS_chr6_63714980_65712226 | 64507003 | T | TCTGTCAC others(3311): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG02965.hp1 |
a0009a0012a0017 | a0009c0006a0012c0005a0017c0013 | a0009c0006t0001a0012c0005t0001a0017c0013t0001 | a0009c0006t0001g0004a0012c0005t0001g0014a0017c0013t0001g0017 | 3 | 24 | 0.1250 | 3318 | c.564 others(3339): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3311): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0092 | 1 | 390 | 0.0026 | 3318 | c.122 others(3335): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83060048 | C | CGTTAAAG others(3311): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02280.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0037a0001c0001t0002g0038a0001c0001t0002g0101others(1): Show | 6 | 364 | 0.0165 | 3318 | c.148 others(3335): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83060048 | C | CGTTAAAG others(3311): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 3 | 364 | 0.0082 | 3318 | c.148 others(3335): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83060048 | C | CGTTAAAG others(3311): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 364 | 0.0028 | 3318 | c.148 others(3335): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83060048 | C | CGTTAAAG others(3311): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02055.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0040a0001c0001t0002g0109others(2): Show | 10 | 364 | 0.0275 | 3318 | c.148 others(3335): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83060048 | C | CGTTAAAG others(3311): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01261.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0032 | a0001c0001t0002g0003a0001c0001t0002g0010a0001c0001t0002g0035others(15): Show | 38 | 364 | 0.1044 | 3318 | c.148 others(3335): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83060048 | C | CGTTAAAG others(3311): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 364 | 0.0028 | 3318 | c.148 others(3335): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83060048 | C | CGTTAAAG others(3311): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02965.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034a0001c0001t0002g0088 | 3 | 364 | 0.0082 | 3318 | c.148 others(3335): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83060053 | A | AAGTCATA others(3311): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0077 | 1 | 364 | 0.0028 | 3318 | c.148 others(3335): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83060053 | A | AAGTCATA others(3311): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 364 | 0.0028 | 3318 | c.148 others(3335): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83060053 | A | AAGTCATA others(3311): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01934.hp1 HG02145.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0085a0001c0001t0003g0157a0001c0001t0003g0158others(2): Show | 5 | 364 | 0.0137 | 3318 | c.148 others(3335): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83060053 | A | AAGTCATA others(3311): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG00738.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0014others(2): Show | a0001c0001t0003g0004a0001c0001t0003g0020a0001c0001t0003g0030others(18): Show | 39 | 364 | 0.1071 | 3318 | c.148 others(3335): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83060053 | A | AAGTCATA others(3311): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01346.hp2 HG04228.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 4 | 364 | 0.0110 | 3318 | c.148 others(3335): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83060053 | A | AAGTCATA others(3311): Show |
intron_variant | MODIFIER | HG00323.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 2 | 364 | 0.0055 | 3318 | c.148 others(3335): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(3312): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0155 | 1 | 298 | 0.0034 | 3319 | c.126 others(3336): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3312): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0059 | 1 | 390 | 0.0026 | 3319 | c.122 others(3336): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3312): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0128 | 1 | 390 | 0.0026 | 3319 | c.122 others(3336): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3312): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0068 | 1 | 390 | 0.0026 | 3319 | c.122 others(3336): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3312): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0096 | 1 | 390 | 0.0026 | 3319 | c.122 others(3336): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3312): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(41): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0007a0001c0003t0001a0001c0003t0007others(4): Show | a0001c0002t0007g0012a0001c0002t0007g0125a0001c0003t0001g0007others(36): Show | 44 | 390 | 0.1128 | 3319 | c.122 others(3336): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3312): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02976.hp1 |
a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0121a0001c0003t0011g0122 | 2 | 390 | 0.0051 | 3319 | c.122 others(3336): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3312): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0079 | 1 | 390 | 0.0026 | 3319 | c.122 others(3336): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3312): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0124 | 1 | 390 | 0.0026 | 3319 | c.122 others(3336): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3312): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03098.hp2 NA20129.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0011a0001c0003t0001 | a0001c0002t0011g0315a0001c0002t0011g0316a0001c0003t0001g0063 | 3 | 390 | 0.0077 | 3319 | c.122 others(3336): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3312): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0086 | 1 | 390 | 0.0026 | 3319 | c.122 others(3336): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3312): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00733.hp1 others(11): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0034 | a0001c0003t0001g0004a0001c0003t0001g0011a0001c0003t0001g0062others(8): Show | 14 | 390 | 0.0359 | 3319 | c.122 others(3336): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3312): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0034 | 1 | 268 | 0.0037 | 3319 | c.139 others(3340): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3312): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00741.hp2 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0002g0116a0001c0001t0003g0181a0001c0001t0003g0254others(10): Show | 13 | 268 | 0.0485 | 3319 | c.139 others(3340): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3312): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146 | 1 | 268 | 0.0037 | 3319 | c.139 others(3340): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3313): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0069 | 1 | 390 | 0.0026 | 3320 | c.122 others(3337): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar |