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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO5A_chr15_52302283_52533880 | 52378515 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02074.hp2 HG03492.hp1 HG03516.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0023others(3): Show | a0001c0001t0001g0178 a0001c0001t0012g0154 a0001c0001t0023g0285 others(3): Show |
6 | 302 | 0.0199 | 28 | c.220 others(47): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 49974779 | T | TCACACAC others(21): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0121 | 1 | 238 | 0.0042 | 28 | c.105 others(45): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 49974798 | G | GACACACA others(21): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG01099.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(5): Show | a0001c0001t0001g0018 a0001c0001t0001g0118 a0001c0001t0006g0226 others(9): Show |
12 | 238 | 0.0504 | 28 | c.105 others(45): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50104290 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0006 | a0006c0025 | a0006c0025t0002 | a0006c0025t0002g0106 | 1 | 238 | 0.0042 | 28 | c.28- others(45): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50183306 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | NA19043.hp2 NA19240.hp2 |
a0001a0006 | a0001c0002a0006c0025 | a0001c0002t0002a0006c0025t0006 | a0001c0002t0002g0158 a0006c0025t0006g0215 |
2 | 238 | 0.0084 | 28 | c.27+ others(45): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52256587 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02895.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0001 a0001c0001t0004g0154 a0001c0001t0004g0158 others(3): Show |
7 | 360 | 0.0194 | 28 | c.139 others(43): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52256587 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | NA18522.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0042 | a0001c0001t0004g0162 a0001c0001t0042g0350 |
2 | 360 | 0.0056 | 28 | c.139 others(43): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52291731 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0004 | a0001c0004t0009a0001c0004t0041 | a0001c0004t0009g0099 a0001c0004t0041g0100 |
2 | 360 | 0.0056 | 28 | c.27+ others(43): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar | |||||||
MYO6_chr6_75744239_75924537 | 75757027 | A | ATATATAG others(21): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0241 | 1 | 358 | 0.0028 | 28 | c.-48 others(45): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYO7B_chr2_127530683_127642726 | 127571442 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0041 | a0041c0028 | a0041c0028t0001 | a0041c0028t0001g0197 | 1 | 282 | 0.0036 | 28 | c.592 others(45): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71867798 | T | TCACACAC others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02886.hp2 |
a0001a0022 | a0001c0001a0022c0031 | a0001c0001t0005a0022c0031t0021 | a0001c0001t0005g0110 a0022c0031t0021g0017 |
2 | 308 | 0.0065 | 28 | c.598 others(47): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 32/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71906758 | C | CTTTCTTT others(21): Show |
intron_variant | MODIFIER | NA18941.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0031 | a0001c0001t0009g0166 a0001c0001t0031g0111 |
2 | 308 | 0.0065 | 28 | c.268 others(47): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 19/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928027 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02273.hp1 NA18983.hp1 NA19087.hp2 |
a0001a0012 | a0001c0001a0012c0015 | a0001c0001t0001a0001c0001t0009a0012c0015t0001 | a0001c0001t0001g0194 a0001c0001t0009g0165 a0012c0015t0001g0104 |
3 | 308 | 0.0097 | 28 | c.256 others(47): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02738.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0140 a0001c0002t0004g0096 |
2 | 308 | 0.0065 | 28 | c.256 others(47): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02717.hp2 HG02723.hp1 |
a0001a0021 | a0001c0001a0021c0030 | a0001c0001t0001a0021c0030t0021 | a0001c0001t0001g0172 a0001c0001t0001g0200 a0021c0030t0021g0018 |
3 | 308 | 0.0097 | 28 | c.256 others(47): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71966265 | A | AGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0002 | 1 | 308 | 0.0033 | 28 | c.198 others(47): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 13/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71975390 | C | CGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG02083.hp1 NA19068.hp1 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0007a0001c0011t0007 | a0001c0002t0007g0007 a0001c0011t0007g0011 |
2 | 308 | 0.0065 | 28 | c.184 others(47): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 12/41 | chr15 | TogoVar | |||||||
MYO9B_chr19_17070777_17218286 | 17197445 | T | TAGATAGA others(21): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02451.hp2 HG02622.hp2 others(6): Show |
a0003a0005a0007others(3): Show | a0003c0036a0005c0015a0005c0035others(5): Show | a0003c0036t0003a0005c0015t0003a0005c0035t0003others(5): Show | a0003c0036t0003g0012 a0005c0015t0003g0233 a0005c0035t0003g0168 others(6): Show |
9 | 262 | 0.0344 | 28 | c.404 others(45): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 22/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12749548 | G | GTATGTAT others(21): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0013 | a0013c0027 | a0013c0027t0111 | a0013c0027t0111g0221 | 1 | 346 | 0.0029 | 28 | c.112 others(47): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYOC_chr1_171630417_171657688 | 171653311 | C | CTGTGTGT others(21): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG02922.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0010 a0001c0003t0001g0044 |
8 | 434 | 0.0184 | 28 | c.-70 others(37): Show |
MYOC | ENSG00000034971.17 | transcript | ENST00000037502.11 | protein_coding | 624 | chr1 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93354666 | A | ACTCTCTC others(21): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0175 | 1 | 240 | 0.0042 | 28 | c.340 others(45): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 31/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93369110 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0009 | a0009c0025 | a0009c0025t0001 | a0009c0025t0001g0022 | 1 | 240 | 0.0042 | 28 | c.258 others(45): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 25/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93378693 | G | GTGTGTAT others(21): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0050 | a0001c0050t0003 | a0001c0050t0003g0227 | 1 | 240 | 0.0042 | 28 | c.200 others(47): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 21/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93378693 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 NA18981.hp1 |
a0001 | a0001c0002a0001c0004a0001c0021 | a0001c0002t0002a0001c0004t0003a0001c0021t0001 | a0001c0002t0002g0183 a0001c0004t0003g0233 a0001c0021t0001g0006 |
3 | 240 | 0.0125 | 28 | c.200 others(47): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 21/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93378693 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0125 a0001c0002t0002g0210 |
2 | 240 | 0.0083 | 28 | c.200 others(47): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 21/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93406288 | T | TTATACAT others(21): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 240 | 0.0042 | 28 | c.730 others(45): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 7/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93406288 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02735.hp1 HG03239.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0137 a0001c0001t0002g0193 a0001c0002t0001g0103 others(2): Show |
5 | 240 | 0.0208 | 28 | c.730 others(45): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 7/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93482845 | T | TTATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01975.hp1 HG02602.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0012others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0001others(2): Show | a0001c0001t0001g0087 a0001c0001t0001g0113 a0001c0003t0001g0117 others(3): Show |
6 | 240 | 0.0250 | 28 | c.-65 others(37): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 512 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93483368 | A | ATTTTTTT others(21): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0038 | a0004c0038t0007 | a0004c0038t0007g0166 | 1 | 240 | 0.0042 | 28 | c.-11 others(39): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1035 | chr10 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3064534 | T | TTATATAT others(21): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02622.hp1 |
a0021a0029a0035 | a0021c0155a0029c0175a0035c0118 | a0021c0155t0001a0029c0175t0001a0035c0118t0001 | a0021c0155t0001g0026 a0029c0175t0001g0182 a0035c0118t0001g0059 |
3 | 330 | 0.0091 | 28 | c.*27 others(39): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 2272 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3151487 | T | TAAAATAA others(21): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02280.hp1 others(9): Show |
a0002a0004a0011others(4): Show | a0002c0112a0002c0146a0002c0185others(8): Show | a0002c0112t0001a0002c0146t0001a0002c0185t0001others(8): Show | a0002c0112t0001g0153 a0002c0146t0001g0135 a0002c0185t0001g0183 others(9): Show |
12 | 330 | 0.0364 | 28 | c.184 others(45): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 12/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2058894 | A | AACAAAGT others(21): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0007 | a0007c0047 | a0007c0047t0001 | a0007c0047t0001g0183 | 1 | 403 | 0.0025 | 28 | c.561 others(43): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100097 | C | CTTCCTTC others(21): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0004 | a0004c0153 | a0004c0153t0001 | a0004c0153t0001g0126 | 1 | 403 | 0.0025 | 28 | c.244 others(45): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100121 | C | CTTCTTTC others(21): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0081 | a0081c0172 | a0081c0172t0001 | a0081c0172t0001g0033 | 1 | 403 | 0.0025 | 28 | c.244 others(45): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2120689 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG01074.hp1 others(43): Show |
a0001a0002a0003others(16): Show | a0001c0002a0001c0003a0001c0014others(32): Show | a0001c0002t0002a0001c0003t0002a0001c0014t0001others(34): Show | a0001c0002t0002g0371 a0001c0003t0002g0368 a0001c0014t0001g0026 others(43): Show |
46 | 403 | 0.1141 | 28 | c.345 others(47): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2120689 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0032 | a0032c0054 | a0032c0054t0001 | a0032c0054t0001g0005 | 1 | 403 | 0.0025 | 28 | c.345 others(47): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | chr8 | TogoVar | |||||||
MYOM3_chr1_24051041_24117135 | 24067285 | T | TTTCTTTC others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0263 | 1 | 364 | 0.0028 | 28 | c.335 others(45): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 27/36 | chr1 | TogoVar | |||||||
MYOZ3_chr5_150656251_150684368 | 150675226 | T | TTGTGTGC others(21): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03579.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006 | a0002c0002t0002g0110 a0002c0002t0002g0223 a0002c0002t0002g0230 others(1): Show |
4 | 394 | 0.0102 | 28 | c.588 others(45): Show |
MYOZ3 | ENSG00000164591.14 | transcript | ENST00000517768.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MYPN_chr10_68104488_68217017 | 68169181 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0007 | a0007c0008 | a0007c0008t0004 | a0007c0008t0004g0237 | 1 | 306 | 0.0033 | 28 | c.197 others(47): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891635 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02895.hp2 |
a0005a0014 | a0005c0008a0014c0022 | a0005c0008t0004a0014c0022t0003 | a0005c0008t0004g0301 a0014c0022t0003g0250 |
2 | 322 | 0.0062 | 28 | c.903 others(43): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891637 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01175.hp2 HG01496.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0003others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0081 a0001c0001t0001g0155 others(8): Show |
11 | 322 | 0.0342 | 28 | c.903 others(43): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891682 | T | TTTCTTTC others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02056.hp2 NA18950.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0008 a0001c0001t0001g0186 a0002c0002t0002g0051 others(1): Show |
4 | 322 | 0.0124 | 28 | c.903 others(43): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69945986 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0132 a0002c0002t0003g0136 |
2 | 322 | 0.0062 | 28 | c.222 others(47): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 39857251 | G | GAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG01074.hp1 NA18964.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002 | a0001c0001t0005g0137 a0001c0002t0002g0131 |
2 | 170 | 0.0118 | 28 | c.-30 others(47): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40060596 | T | TGAGAGAG others(21): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01256.hp2 HG02027.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0003c0003t0002others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0104 a0001c0001t0001g0121 others(6): Show |
9 | 170 | 0.0529 | 28 | c.332 others(47): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40084295 | A | ATATAATA others(21): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 a0001c0001t0003g0042 |
2 | 170 | 0.0118 | 28 | c.332 others(47): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40084327 | A | ATATAATA others(21): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02630.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0003a0001c0004t0001a0001c0006t0006others(1): Show | a0001c0001t0003g0082 a0001c0004t0001g0079 a0001c0006t0006g0088 others(2): Show |
5 | 170 | 0.0294 | 28 | c.332 others(47): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 40084391 | A | AGATAATA others(21): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0126 a0001c0001t0003g0046 |
2 | 170 | 0.0118 | 28 | c.332 others(47): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58651407 | A | AGTGTGTG others(21): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01167.hp1 others(11): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0018 others(11): Show |
14 | 410 | 0.0342 | 28 | c.*85 others(39): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 3335 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58698084 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03516.hp2 |
a0004 | a0004c0004 | a0004c0004t0020a0004c0004t0070 | a0004c0004t0020g0350 a0004c0004t0070g0351 |
2 | 410 | 0.0049 | 28 | c.68+ others(43): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar |