| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(241): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0198 | 1 | 418 | 0.0024 | 248 | c.167 others(265): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| HERC6_chr4_88373852_88448097 | 88379742 | A | ATATATAA others(241): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0083 | 1 | 174 | 0.0058 | 248 | c.199 others(263): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | chr4 | TogoVar | ||||||
| HERC6_chr4_88373852_88448097 | 88380374 | T | TATATATA others(241): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 174 | 0.0058 | 248 | c.199 others(265): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| IFNAR1_chr21_33319970_33364864 | 33322890 | T | TATATGGA others(241): Show |
upstream_gene_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 323 | 0.0031 | 248 | c.-21 others(259): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2079 | chr21 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322890 | T | TATATGGA others(241): Show |
upstream_gene_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0205 | 1 | 323 | 0.0031 | 248 | c.-21 others(259): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2079 | chr21 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33323158 | A | ATGGAATA others(241): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0196 | 1 | 323 | 0.0031 | 248 | c.-18 others(259): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1811 | chr21 | TogoVar | ||||||
| IGFN1_chr1_201185824_201233952 | 201189207 | A | ACAGCCTC others(241): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0017 | a0017c0055 | a0017c0055t0002 | a0017c0055t0002g0301 | 1 | 428 | 0.0023 | 248 | c.-17 others(259): Show |
IGFN1 | ENSG00000163395.17 | transcript | ENST00000335211.9 | protein_coding | 1616 | chr1 | TogoVar | ||||||
| IGFN1_chr1_201185824_201233952 | 201189207 | A | ACAGCGTC others(241): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 NA18942.hp2 NA18994.hp1 others(1): Show |
a0011a0017a0099 | a0011c0061a0017c0143a0099c0158 | a0011c0061t0002a0017c0143t0002a0099c0158t0003 | a0011c0061t0002g0305a0011c0061t0002g0311a0017c0143t0002g0310others(1): Show | 4 | 428 | 0.0094 | 248 | c.-17 others(259): Show |
IGFN1 | ENSG00000163395.17 | transcript | ENST00000335211.9 | protein_coding | 1616 | chr1 | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132775111 | G | GGAGGGGC others(241): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0015 | 1 | 204 | 0.0049 | 248 | c.978 others(265): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| INPP5E_chr9_136423619_136444845 | 136431701 | T | TTCCTCAT others(241): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 382 | 0.0026 | 248 | c.154 others(265): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
| IRAG2_chr12_25047706_25113335 | 25106550 | G | GTACAGTA others(241): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02523.hp1 HG02723.hp1 others(4): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0005others(1): Show | a0001c0001t0001a0003c0003t0009a0006c0005t0001others(1): Show | a0001c0001t0001g0270a0003c0003t0009g0031a0003c0003t0009g0078others(4): Show | 7 | 344 | 0.0204 | 248 | c.114 others(265): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| KANK1_chr9_499695_751103 | 514130 | C | CTCTCCCT others(241): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0006 | a0006c0040 | a0006c0040t0001 | a0006c0040t0001g0062 | 1 | 254 | 0.0039 | 248 | c.-84 others(265): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79830880 | T | TACAGAGC others(241): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02683.hp1 NA18979.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0053a0001c0001t0001g0109a0001c0001t0001g0159others(2): Show | 5 | 312 | 0.0160 | 248 | c.-11 others(269): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79830880 | T | TACAGAGC others(241): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 312 | 0.0032 | 248 | c.-11 others(269): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNIP4_chr4_20723606_21953772 | 21346215 | T | TTATATAT others(241): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0007 | 1 | 80 | 0.0125 | 248 | c.62- others(267): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| KCNMB2_chr3_178531436_178849429 | 178758198 | A | ATATATAT others(241): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0074 | 1 | 232 | 0.0043 | 248 | c.-67 others(267): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KCNMB2_chr3_178531436_178849429 | 178758248 | A | ATATATAT others(241): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 232 | 0.0043 | 248 | c.-67 others(267): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KCNN3_chr1_154692455_154875281 | 154755826 | A | AAGGAGGA others(241): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01168.hp2 HG01169.hp2 others(13): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0004a0004c0005others(6): Show | a0001c0001t0014a0001c0004t0001a0001c0004t0008others(9): Show | a0001c0001t0014g0086a0001c0004t0001g0054a0001c0004t0001g0088others(12): Show | 16 | 238 | 0.0672 | 248 | c.144 others(269): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
| KDM4B_chr19_4964113_5158598 | 5131563 | A | AGGCAGGG others(241): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 270 | 0.0037 | 248 | c.178 others(265): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| KDM4B_chr19_4964113_5158598 | 5131563 | A | AGGCAGGG others(241): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0047a0004c0004t0005g0048 | 2 | 270 | 0.0074 | 248 | c.178 others(265): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| KDM4B_chr19_4964113_5158598 | 5131563 | A | AGGCAGGG others(241): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0119 | 1 | 270 | 0.0037 | 248 | c.178 others(265): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| KDM4B_chr19_4964113_5158598 | 5131596 | A | AGGGGAGG others(241): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 270 | 0.0037 | 248 | c.178 others(265): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| KDM4B_chr19_4964113_5158598 | 5131642 | A | AGGGGGGC others(241): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 270 | 0.0037 | 248 | c.178 others(265): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGCGG others(241): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0348 | 1 | 375 | 0.0027 | 248 | c.-22 others(259): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167997457 | G | GGGGGTCG others(241): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 375 | 0.0027 | 248 | c.-20 others(259): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 213 | chr6 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 168035438 | C | CGGGGGGG others(241): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00609.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0023a0002c0002t0003g0029a0002c0002t0003g0038others(4): Show | 7 | 375 | 0.0187 | 248 | c.317 others(265): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| KIR2DL3_chr19_54733513_54758052 | 54755850 | G | GATATGGG others(241): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0000 | a0000c0006 | a0000c0006t0005 | a0000c0006t0005g0059 | 1 | 312 | 0.0032 | 248 | c.*33 others(259): Show |
KIR2DL3 | ENSG00000243772.8 | transcript | ENST00000342376.4 | protein_coding | 2799 | chr19 | TogoVar | ||||||
| KLHL23_chr2_169728832_169756878 | 169750102 | A | ATATACGT others(241): Show |
3_prime_UTR_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0162 | 1 | 400 | 0.0025 | 248 | c.*37 others(257): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 4/4 | 371 | chr2 | TogoVar | |||||
| LAIR1_chr19_54346384_54369931 | 54349376 | A | ATGGATGG others(241): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 HG02071.hp2 HG02523.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0064a0001c0001t0002g0089others(1): Show | 6 | 462 | 0.0130 | 248 | c.*58 others(259): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 2007 | chr19 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(241): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0043 | 1 | 414 | 0.0024 | 248 | c.171 others(265): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LOC127933115_chrX_23778278_23788367 | 23780122 | C | CACACATA others(241): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 334 | 0.0030 | 248 | c.-31 others(259): Show |
LOC127933115 | ENSG00000288706.1 | transcript | ENST00000683890.1 | protein_coding | 3155 | chrX | TogoVar | ||||||
| LRP8_chr1_53237364_53333070 | 53284196 | T | TACTTACC others(241): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 | 1 | 296 | 0.0034 | 248 | c.368 others(265): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACACTT others(241): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0009 | 1 | 290 | 0.0035 | 248 | c.129 others(265): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(241): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0007 | 3 | 290 | 0.0103 | 248 | c.129 others(265): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACGCTT others(241): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 290 | 0.0035 | 248 | c.129 others(265): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MALRD1_chr10_19043801_19739478 | 19338831 | G | GTATGTAT others(241): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0049 | a0049c0077 | a0049c0077t0001 | a0049c0077t0001g0140 | 1 | 152 | 0.0066 | 248 | c.390 others(267): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 24/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MAN2B2_chr4_6570189_6628362 | 6579132 | C | CCATCACC others(241): Show |
intron_variant | MODIFIER | HG02572.hp2 NA20129.hp1 |
a0003a0022 | a0003c0070a0022c0069 | a0003c0070t0002a0022c0069t0003 | a0003c0070t0002g0034a0022c0069t0003g0033 | 2 | 362 | 0.0055 | 248 | c.391 others(263): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MAP3K15_chrX_19355059_19520508 | 19477974 | A | AGAGAGGG others(241): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0155 | 1 | 163 | 0.0061 | 248 | c.525 others(265): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7061744 | A | ATTATATA others(241): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 HG03927.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0040 | 2 | 288 | 0.0069 | 248 | c.-31 others(259): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3069 | chr19 | TogoVar | ||||||
| MCC_chr5_113017106_113493453 | 113333838 | T | TATATGTA others(241): Show |
intron_variant | MODIFIER | HG01167.hp1 NA19001.hp2 NA19074.hp2 |
a0002 | a0002c0001a0002c0002 | a0002c0001t0002a0002c0002t0001 | a0002c0001t0002g0127a0002c0001t0002g0150a0002c0002t0001g0128 | 3 | 160 | 0.0188 | 248 | c.627 others(265): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
| MDP1_chr14_24208943_24221066 | 24209057 | G | GAAAGCTA others(241): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 | 1 | 404 | 0.0025 | 248 | c.*49 others(259): Show |
MDP1 | ENSG00000213920.9 | transcript | ENST00000288087.12 | protein_coding | 4885 | chr14 | TogoVar | ||||||
| MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(241): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG04199.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0002t0001a0002c0008t0001 | a0001c0001t0001g0041a0001c0001t0001g0053a0001c0002t0001g0019others(2): Show | 5 | 56 | 0.0893 | 248 | c.135 others(265): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
| MSH4_chr1_75791882_75918242 | 75885812 | T | TAATACCT others(241): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 332 | 0.0030 | 248 | c.210 others(267): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | chr1 | TogoVar | ||||||
| MSH4_chr1_75791882_75918242 | 75885812 | T | TAATACCT others(241): Show |
intron_variant | MODIFIER | HG03831.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250a0001c0001t0001g0251 | 2 | 332 | 0.0060 | 248 | c.210 others(267): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | chr1 | TogoVar | ||||||
| MSH4_chr1_75791882_75918242 | 75885812 | T | TAATACCT others(241): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(66): Show |
a0001a0004a0008 | a0001c0001a0004c0007a0008c0012 | a0001c0001t0001a0004c0007t0001a0008c0012t0001 | a0001c0001t0001g0077a0001c0001t0001g0181a0001c0001t0001g0182others(66): Show | 69 | 332 | 0.2078 | 248 | c.210 others(267): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | chr1 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110701652 | A | ATTATTTT others(241): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0124 | 1 | 326 | 0.0031 | 248 | c.628 others(265): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MXRA8_chr1_1347691_1363555 | 1350734 | C | CGGGGGGG others(241): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 338 | 0.0030 | 248 | c.*28 others(259): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1956 | chr1 | TogoVar | ||||||
| MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(241): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0340 | 1 | 384 | 0.0026 | 248 | c.160 others(265): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
| MYNN_chr3_169768396_169794716 | 169770930 | A | AATAAAAA others(241): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0005 | 1 | 350 | 0.0029 | 248 | c.-25 others(259): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2465 | chr3 | TogoVar | ||||||
| MYNN_chr3_169768396_169794716 | 169771186 | A | TTTATATT others(241): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 350 | 0.0029 | 248 | c.-23 others(259): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2210 | chr3 | TogoVar |