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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTMR8_chrX_64263081_64400452 | 64287999 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02451.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0033 others(16): Show |
19 | 39 | 0.4872 | -26 | c.148 others(47): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 12/13 | chrX | TogoVar | |||||||
MTMR8_chrX_64263081_64400452 | 64304860 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 27 | 0.0370 | -26 | c.148 others(47): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 12/13 | chrX | TogoVar | |||||||
MTNR1A_chr4_186528655_186560567 | 186547097 | CACCCTGT others(19): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG02056.hp1 others(10): Show |
a0001a0002a0009 | a0001c0001a0002c0007a0009c0020 | a0001c0001t0001a0002c0007t0001a0009c0020t0001 | a0001c0001t0001g0041 a0001c0001t0001g0090 a0001c0001t0001g0096 others(9): Show |
13 | 393 | 0.0331 | -26 | c.184 others(43): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
MTPN_chr7_135921760_135982359 | 135924403 | CCACTCCA others(19): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0038 a0001c0001t0005g0178 a0001c0001t0005g0179 others(2): Show |
6 | 384 | 0.0156 | -26 | c.*54 others(37): Show |
MTPN | ENSG00000105887.11 | transcript | ENST00000393085.4 | protein_coding | 2356 | chr7 | TogoVar | |||||||
MTPN_chr7_135921760_135982359 | 135928298 | ACACACAC others(19): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 384 | 0.0026 | -26 | c.*16 others(37): Show |
MTPN | ENSG00000105887.11 | transcript | ENST00000393085.4 | protein_coding | 4/4 | 1602 | chr7 | TogoVar | ||||||
MTREX_chr5_55302989_55430579 | 55369090 | CCACCAAA others(19): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 318 | 0.0031 | -26 | c.181 others(45): Show |
MTREX | ENSG00000039123.16 | transcript | ENST00000230640.10 | protein_coding | 16/26 | chr5 | TogoVar | |||||||
MTR_chr1_236790292_236908981 | 236844453 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(108): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0011others(10): Show | a0001c0001t0028a0001c0002t0001a0001c0002t0021others(23): Show | a0001c0001t0028g0269 a0001c0001t0028g0270 a0001c0002t0001g0002 others(105): Show |
111 | 116 | 0.9569 | -26 | c.151 others(45): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29389413 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0011 | 1 | 90 | 0.0111 | -26 | c.311 others(47): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29389519 | GTGTATAT others(19): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0088 | 1 | 88 | 0.0114 | -26 | c.311 others(47): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MUC15_chr11_26554032_26577263 | 26564720 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0029 | 2 | 431 | 0.0046 | -26 | c.775 others(41): Show |
MUC15 | ENSG00000169550.14 | transcript | ENST00000529533.6 | protein_coding | 3/4 | chr11 | TogoVar | |||||||
MUC15_chr11_26554032_26577263 | 26564726 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0146 | 1 | 437 | 0.0023 | -26 | c.775 others(41): Show |
MUC15 | ENSG00000169550.14 | transcript | ENST00000529533.6 | protein_coding | 3/4 | chr11 | TogoVar | |||||||
MUC5B_chr11_1218066_1267172 | 1259114 | AGTGAGAC others(19): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0073 | a0002c0073t0001 | a0002c0073t0001g0115 | 1 | 348 | 0.0029 | -26 | c.167 others(43): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 44/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5B_chr11_1218066_1267172 | 1259220 | AGTGAGAC others(19): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0099 | a0099c0150 | a0099c0150t0001 | a0099c0150t0001g0052 | 1 | 348 | 0.0029 | -26 | c.167 others(45): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 44/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5B_chr11_1218066_1267172 | 1259309 | AAGGCACC others(19): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0006 | a0006c0086 | a0006c0086t0001 | a0006c0086t0001g0080 | 1 | 348 | 0.0029 | -26 | c.167 others(45): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 44/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC6_chr11_1007823_1041718 | 1023380 | TAATGAAT others(19): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02630.hp2 others(6): Show |
a0011a0012 | a0011c0022a0011c0202a0012c0058others(2): Show | a0011c0022t0003a0011c0202t0003a0012c0058t0002others(2): Show | a0011c0022t0003g0012 a0011c0202t0003g0275 a0012c0058t0002g0058 others(2): Show |
9 | 404 | 0.0223 | -26 | c.352 others(43): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 26/32 | chr11 | TogoVar | |||||||
MVB12A_chr19_17415047_17430332 | 17415120 | TTTTTTAC others(19): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00735.hp1 others(130): Show |
a0001a0003a0005 | a0001c0001a0003c0005a0005c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(40): Show |
133 | 398 | 0.3342 | -26 | c.-50 others(37): Show |
MVB12A | ENSG00000141971.14 | transcript | ENST00000317040.12 | protein_coding | 4926 | chr19 | TogoVar | |||||||
MVB12A_chr19_17415047_17430332 | 17425042 | GCCTGGGG others(19): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0005 | 1 | 398 | 0.0025 | -26 | c.*65 others(33): Show |
MVB12A | ENSG00000141971.14 | transcript | ENST00000317040.12 | protein_coding | 9/9 | 65 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MVB12A_chr19_17415047_17430332 | 17425058 | CCTCACTG others(19): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(112): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(24): Show |
115 | 398 | 0.2889 | -26 | c.*82 others(34): Show |
MVB12A | ENSG00000141971.14 | transcript | ENST00000317040.12 | protein_coding | 9/9 | 82 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MXI1_chr10_110202605_110292365 | 110226974 | GGTGTGAG others(19): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0034 | 1 | 370 | 0.0027 | -26 | c.275 others(43): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3345354 | GCTCTGCA others(19): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0138 | 1 | 282 | 0.0035 | -26 | c.-29 others(43): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 1/6 | chrX | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1360935 | CAGACACG others(19): Show |
C | upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 336 | 0.0030 | -26 | c.-24 others(37): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2381 | chr1 | TogoVar | |||||||
MYADM_chr19_53862883_53881435 | 53878634 | AAAAAAAA others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 301 | 0.0033 | -26 | c.*41 others(37): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2200 | chr19 | TogoVar | |||||||
MYADM_chr19_53862883_53881435 | 53878636 | AAAAAAAA others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 232 | 0.0043 | -26 | c.*41 others(37): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2202 | chr19 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101681555 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0006 | 1 | 289 | 0.0035 | -26 | c.343 others(45): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYBPC2_chr19_50427892_50471321 | 50459459 | GGGGGTGG others(19): Show |
G | intron_variant | MODIFIER | HG02895.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0217 | 1 | 394 | 0.0025 | -26 | c.279 others(43): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYBPC3_chr11_47326406_47357702 | 47357130 | TCACACAT others(19): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 369 | 0.0027 | -26 | c.-45 others(37): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 4429 | chr11 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77326240 | GACACACA others(19): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG01952.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(4): Show |
7 | 97 | 0.0722 | -26 | c.302 others(41): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 1/82 | chr13 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672004 | TATATATT others(19): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 | 1 | 408 | 0.0025 | -26 | c.-16 others(37): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1663 | chr19 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672032 | TATATATT others(19): Show |
T | upstream_gene_variant | MODIFIER | HG02074.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0188 |
2 | 405 | 0.0049 | -26 | c.-17 others(37): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1691 | chr19 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672142 | TATATTCA others(19): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01884.hp2 HG02015.hp2 others(15): Show |
a0002a0004 | a0002c0002a0002c0005a0004c0004 | a0002c0002t0002a0002c0005t0001a0004c0004t0002 | a0002c0002t0002g0027 a0002c0002t0002g0103 a0002c0002t0002g0104 others(14): Show |
18 | 408 | 0.0441 | -26 | c.-18 others(37): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1801 | chr19 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672238 | TATATGAA others(19): Show |
T | upstream_gene_variant | MODIFIER | NA18943.hp1 NA18984.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0107 a0002c0002t0002g0123 |
2 | 403 | 0.0050 | -26 | c.-19 others(37): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1897 | chr19 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10300405 | CAAAAAAA others(19): Show |
C | downstream_gene_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0250 | 1 | 197 | 0.0051 | -26 | c.*52 others(35): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 459 | chr17 | TogoVar | |||||||
MYH14_chr19_50198622_50315540 | 50251504 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(43): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(31): Show | a0001c0001t0001g0139 a0001c0001t0001g0154 a0001c0001t0001g0170 others(43): Show |
46 | 169 | 0.2722 | -26 | c.183 others(43): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 15/42 | chr19 | TogoVar | |||||||
MYH9_chr22_36276280_36392967 | 36384605 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0097 | 1 | 228 | 0.0044 | -26 | c.-20 others(43): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | |||||||
MYLK3_chr16_46697282_46753344 | 46726663 | AAAAGAAA others(19): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137 | 1 | 179 | 0.0056 | -26 | c.191 others(43): Show |
MYLK3 | ENSG00000140795.13 | transcript | ENST00000394809.9 | protein_coding | 8/12 | chr16 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123607891 | TTATATAT others(19): Show |
T | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01243.hp1 others(18): Show |
a0003a0004a0005others(10): Show | a0003c0018a0004c0013a0004c0054others(13): Show | a0003c0018t0020a0004c0013t0005a0004c0054t0002others(16): Show | a0003c0018t0020g0044 a0003c0018t0020g0047 a0004c0013t0005g0089 others(18): Show |
21 | 102 | 0.2059 | -26 | c.*61 others(37): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2157 | chr3 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16895753 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0008 | a0002c0008t0069 | a0002c0008t0069g0141 | 1 | 47 | 0.0213 | -26 | c.22- others(43): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 108997338 | AAGAGAGA others(19): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 144 | 0.0069 | -26 | c.244 others(45): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109022289 | ATAATATA others(19): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0041 | 1 | 146 | 0.0068 | -26 | c.279 others(45): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109199192 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG02055.hp2 NA19240.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0067a0002c0001a0003c0042others(1): Show | a0001c0067t0001a0002c0001t0001a0003c0042t0013others(1): Show | a0001c0067t0001g0037 a0002c0001t0001g0139 a0003c0042t0013g0099 others(1): Show |
4 | 13 | 0.3077 | -26 | c.541 others(45): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25814294 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0003 | a0003c0132 | a0003c0132t0001 | a0003c0132t0001g0130 | 1 | 2 | 0.5000 | -26 | c.252 others(45): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25990701 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01496.hp2 others(14): Show |
a0003a0004a0006others(10): Show | a0003c0139a0004c0079a0006c0049others(13): Show | a0003c0139t0001a0004c0079t0001a0006c0049t0001others(13): Show | a0003c0139t0001g0021 a0004c0079t0001g0095 a0006c0049t0001g0010 others(14): Show |
17 | 226 | 0.0752 | -26 | c.615 others(45): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO1C_chr17_1459186_1497686 | 1482768 | GCCTTCTC others(19): Show |
G | intron_variant | MODIFIER | HG00544.hp1 NA18973.hp1 NA19003.hp2 |
a0002 | a0002c0014 | a0002c0014t0002 | a0002c0014t0002g0027 a0002c0014t0002g0036 a0002c0014t0002g0081 |
3 | 428 | 0.0070 | -26 | c.546 others(39): Show |
MYO1C | ENSG00000197879.17 | transcript | ENST00000648651.1 | protein_coding | 4/31 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32632572 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01167.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0128 a0001c0001t0004g0178 |
2 | 155 | 0.0129 | -26 | c.270 others(45): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 20/21 | chr17 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32677580 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG03486.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0040 | a0001c0001t0007g0220 a0001c0001t0040g0218 |
2 | 22 | 0.0909 | -26 | c.212 others(47): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 16/21 | chr17 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59282897 | GGGGGGGA others(19): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0021 | 1 | 211 | 0.0047 | -26 | c.4-1 others(41): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8566594 | ACCTCTGC others(19): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02976.hp2 |
a0001a0008 | a0001c0001a0001c0002a0008c0017 | a0001c0001t0003a0001c0002t0001a0008c0017t0002 | a0001c0001t0003g0282 a0001c0002t0001g0280 a0008c0017t0002g0281 |
3 | 340 | 0.0088 | -26 | c.3+1 others(41): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8574597 | CTTTCTTT others(19): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01515.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0126 others(8): Show |
11 | 318 | 0.0346 | -26 | c.3+2 others(39): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | |||||||
MYO1G_chr7_44957662_44984015 | 44961109 | AGCTGAGG others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG02970.hp1 HG03130.hp1 others(1): Show |
a0001a0002 | a0001c0008a0002c0005 | a0001c0008t0001a0002c0005t0001 | a0001c0008t0001g0030 a0001c0008t0001g0059 a0002c0005t0001g0006 |
4 | 374 | 0.0107 | -26 | c.*16 others(37): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1552 | chr7 | TogoVar | |||||||
MYO1H_chr12_109342900_109453379 | 109443128 | ATATATGT others(19): Show |
A | intron_variant | MODIFIER | HG00323.hp1 NA18991.hp1 NA19012.hp1 |
a0003a0008 | a0003c0002a0008c0011 | a0003c0002t0002a0008c0011t0001a0008c0011t0003 | a0003c0002t0002g0074 a0008c0011t0001g0023 a0008c0011t0003g0014 |
3 | 308 | 0.0097 | -26 | c.268 others(43): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |