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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUSK_chr9_110663791_110811558 | 110770324 | ATAATAAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(107): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0221 a0001c0001t0001g0236 a0001c0001t0001g0248 others(107): Show |
110 | 326 | 0.3374 | -7 | c.118 others(26): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MVB12A_chr19_17415047_17430332 | 17427508 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02280.hp1 others(7): Show |
a0001a0005 | a0001c0001a0005c0003 | a0001c0001t0001a0005c0003t0001 | a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0044 others(2): Show |
10 | 400 | 0.0250 | -7 | c.*25 others(18): Show |
MVB12A | ENSG00000141971.14 | transcript | ENST00000317040.12 | protein_coding | 2177 | chr19 | TogoVar | |||||||
MVP_chr16_29815462_29853021 | 29829557 | TGTCCAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG03669.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(2): Show |
5 | 230 | 0.0217 | -7 | c.-35 others(22): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MX1_chr21_41421239_41464212 | 41448926 | GGTTTTGT | G | intron_variant | MODIFIER | HG00408.hp2 HG02071.hp2 HG02135.hp2 others(10): Show |
a0002 | a0002c0007 | a0002c0007t0003a0002c0007t0004 | a0002c0007t0003g0013 a0002c0007t0003g0046 a0002c0007t0003g0083 others(6): Show |
13 | 408 | 0.0319 | -7 | c.127 others(24): Show |
MX1 | ENSG00000157601.15 | transcript | ENST00000398598.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110236124 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00621.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0118 a0001c0001t0001g0119 others(39): Show |
42 | 372 | 0.1129 | -7 | c.407 others(24): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3333302 | CAAAAAAA | C | intron_variant | MODIFIER | HG02922.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0149 | 1 | 284 | 0.0035 | -7 | c.189 others(24): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3341608 | TATATATA | T | intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 | 1 | 284 | 0.0035 | -7 | c.188 others(24): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | |||||||
MYBBP1A_chr17_4533904_4560384 | 4546921 | TTTTTTTC | T | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02486.hp1 others(15): Show |
a0001a0004a0017others(1): Show | a0001c0073a0004c0010a0004c0014others(3): Show | a0001c0073t0003a0004c0010t0001a0004c0010t0002others(5): Show | a0001c0073t0003g0106 a0004c0010t0001g0308 a0004c0010t0002g0109 others(12): Show |
18 | 474 | 0.0380 | -7 | c.182 others(24): Show |
MYBBP1A | ENSG00000132382.15 | transcript | ENST00000254718.9 | protein_coding | 13/25 | chr17 | TogoVar | |||||||
MYBBP1A_chr17_4533904_4560384 | 4556775 | CAGGAGGT | C | upstream_gene_variant | MODIFIER | HG01433.hp2 HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0022 a0001c0002t0007g0090 |
3 | 474 | 0.0063 | -7 | c.-14 others(18): Show |
MYBBP1A | ENSG00000132382.15 | transcript | ENST00000254718.9 | protein_coding | 1392 | chr17 | TogoVar | |||||||
MYBL2_chr20_43662114_43721482 | 43671463 | ATTTTTTT | A | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02895.hp2 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0004 a0004c0006t0002g0100 a0004c0006t0002g0101 others(2): Show |
6 | 274 | 0.0219 | -7 | c.21- others(22): Show |
MYBL2 | ENSG00000101057.16 | transcript | ENST00000217026.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYB_chr6_135176308_135224172 | 135180403 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01952.hp2 others(7): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0066 a0001c0001t0002g0024 a0001c0001t0002g0027 others(7): Show |
10 | 400 | 0.0250 | -7 | c.-11 others(18): Show |
MYB | ENSG00000118513.21 | transcript | ENST00000341911.10 | protein_coding | 904 | chr6 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77057834 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG01255.hp2 HG01257.hp1 others(30): Show |
a0001a0015a0016 | a0001c0001a0015c0018a0016c0045 | a0001c0001t0001a0001c0001t0003a0015c0018t0003others(1): Show | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(30): Show |
33 | 334 | 0.0988 | -7 | c.133 others(26): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 78/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77167019 | ACACACAC | A | intron_variant | MODIFIER | HG02155.hp1 NA18961.hp2 NA18994.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0190 a0001c0002t0001g0054 a0001c0002t0001g0062 |
3 | 334 | 0.0090 | -7 | c.611 others(24): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 40/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77286755 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG01099.hp2 HG01515.hp2 others(4): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0039 a0001c0002t0001g0059 a0001c0002t0001g0066 others(4): Show |
7 | 334 | 0.0210 | -7 | c.594 others(24): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77286784 | AAAAAAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01891.hp2 others(5): Show |
a0001a0006 | a0001c0002a0001c0006a0006c0015 | a0001c0002t0001a0001c0002t0002a0001c0006t0001others(1): Show | a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0002t0001g0056 others(5): Show |
8 | 334 | 0.0240 | -7 | c.594 others(24): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYD88_chr3_38133661_38148022 | 38144853 | AAAAAAAT | A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG01261.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 408 | 0.0221 | -7 | c.*35 others(18): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1832 | chr3 | TogoVar | |||||||
MYD88_chr3_38133661_38148022 | 38144855 | AAAAATAT | A | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01952.hp2 HG01993.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0009g0001 |
13 | 408 | 0.0319 | -7 | c.*35 others(18): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1834 | chr3 | TogoVar | |||||||
MYD88_chr3_38133661_38148022 | 38144857 | AAATATAT | A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01070.hp1 NA18950.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 408 | 0.0147 | -7 | c.*35 others(18): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1836 | chr3 | TogoVar | |||||||
MYG1_chr12_53294695_53312177 | 53304861 | GTTTTTTT | G | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01074.hp1 others(11): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0008 | a0001c0001t0001a0001c0005t0001a0004c0008t0001 | a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0005t0001g0059 others(2): Show |
14 | 368 | 0.0380 | -7 | c.490 others(24): Show |
MYG1 | ENSG00000139637.14 | transcript | ENST00000267103.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYH10_chr17_8469224_8635725 | 8515533 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(109): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0002g0245 a0001c0002t0001g0023 a0001c0002t0001g0109 others(109): Show |
112 | 274 | 0.4088 | -7 | c.250 others(26): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 21/42 | chr17 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8555891 | ATAAAAGG | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(115): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0002g0245 a0001c0002t0001g0023 a0001c0002t0001g0109 others(115): Show |
118 | 274 | 0.4307 | -7 | c.757 others(24): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 7/42 | chr17 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8592816 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(169): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 others(169): Show |
172 | 274 | 0.6277 | -7 | c.503 others(24): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 3/42 | chr17 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15771435 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(19): Show |
a0001a0007 | a0001c0002a0001c0004a0001c0007others(4): Show | a0001c0002t0001a0001c0004t0002a0001c0007t0001others(5): Show | a0001c0002t0001g0275 a0001c0002t0001g0286 a0001c0004t0002g0113 others(19): Show |
22 | 297 | 0.0741 | -7 | c.103 others(24): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 9/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15821880 | TGCAGTCC | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(41): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0004others(16): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0002others(18): Show | a0001c0002t0001g0011 a0001c0002t0001g0027 a0001c0002t0001g0069 others(41): Show |
44 | 297 | 0.1482 | -7 | c.502 others(24): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 3/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15828843 | AGAGAGAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp2 others(124): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0004others(40): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0002others(48): Show | a0001c0002t0001g0011 a0001c0002t0001g0016 a0001c0002t0001g0027 others(124): Show |
127 | 297 | 0.4276 | -7 | c.346 others(24): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 2/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15834534 | AAAAAAAG | A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02647.hp2 others(10): Show |
a0001a0002a0012 | a0001c0022a0001c0029a0001c0031others(5): Show | a0001c0022t0001a0001c0029t0001a0001c0031t0001others(6): Show | a0001c0022t0001g0186 a0001c0022t0001g0188 a0001c0022t0001g0189 others(10): Show |
13 | 297 | 0.0438 | -7 | c.345 others(24): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 2/40 | chr16 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10300405 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01257.hp1 HG02258.hp2 others(4): Show |
a0001a0004a0006others(2): Show | a0001c0005a0001c0006a0001c0015others(4): Show | a0001c0005t0001a0001c0006t0001a0001c0015t0001others(4): Show | a0001c0005t0001g0328 a0001c0006t0001g0140 a0001c0015t0001g0098 others(4): Show |
7 | 382 | 0.0183 | -7 | c.*53 others(16): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 459 | chr17 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10323789 | AGAAGAAG | A | intron_variant | MODIFIER | HG01433.hp1 HG01928.hp2 HG01978.hp1 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0012a0001c0125a0003c0001others(3): Show | a0001c0012t0001a0001c0125t0001a0003c0001t0001others(3): Show | a0001c0012t0001g0310 a0001c0125t0001g0273 a0003c0001t0001g0316 others(5): Show |
8 | 382 | 0.0209 | -7 | c.293 others(24): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 23/40 | chr17 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10343088 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(197): Show |
a0001a0002a0003others(22): Show | a0001c0002a0001c0005a0001c0007others(67): Show | a0001c0002t0001a0001c0005t0001a0001c0007t0001others(68): Show | a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 others(196): Show |
200 | 382 | 0.5236 | -7 | c.189 others(24): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 16/40 | chr17 | TogoVar | |||||||
MYH14_chr19_50198622_50315540 | 50273290 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00733.hp1 others(25): Show |
a0001a0002a0013others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0087 others(25): Show |
28 | 298 | 0.0940 | -7 | c.346 others(24): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 27/42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYH3_chr17_10623532_10662309 | 10656537 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG02572.hp2 HG02683.hp2 others(8): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0013 a0003c0004t0001g0026 a0003c0004t0001g0061 others(5): Show |
11 | 380 | 0.0290 | -7 | c.-67 others(22): Show |
MYH3 | ENSG00000109063.15 | transcript | ENST00000583535.6 | protein_coding | 1/40 | chr17 | TogoVar | |||||||
MYH7_chr14_23407740_23440660 | 23423435 | AAACACAC | A | intron_variant | MODIFIER | HG00544.hp2 HG02897.hp2 NA18943.hp1 |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0010t0001 | a0001c0001t0001g0193 a0001c0002t0001g0105 a0001c0010t0001g0111 |
3 | 346 | 0.0087 | -7 | c.309 others(24): Show |
MYH7 | ENSG00000092054.13 | transcript | ENST00000355349.4 | protein_coding | 24/39 | chr14 | TogoVar | |||||||
MYH8_chr17_10385322_10426950 | 10426061 | TTTTATGA | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00735.hp1 others(21): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0003t0001a0001c0004t0001 | a0001c0002t0001g0009 a0001c0002t0001g0119 a0001c0002t0001g0140 others(10): Show |
24 | 324 | 0.0741 | -7 | c.-42 others(18): Show |
MYH8 | ENSG00000133020.4 | transcript | ENST00000403437.2 | protein_coding | 4112 | chr17 | TogoVar | |||||||
MYH9_chr22_36276280_36392967 | 36384610 | AAATATAT | A | intron_variant | MODIFIER | HG01071.hp1 HG01192.hp2 HG01255.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0003t0003a0002c0002t0001 | a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0003t0003g0108 others(3): Show |
6 | 242 | 0.0248 | -7 | c.-20 others(24): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | |||||||
MYH9_chr22_36276280_36392967 | 36384612 | ATATATAT | A | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp2 others(17): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0034 a0001c0001t0002g0146 a0001c0001t0004g0069 others(17): Show |
20 | 242 | 0.0826 | -7 | c.-20 others(24): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | |||||||
MYL2_chr12_110905845_110925579 | 110905910 | TTATATTA | T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01943.hp1 HG02486.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(7): Show |
16 | 368 | 0.0435 | -7 | c.*51 others(18): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4934 | chr12 | TogoVar | |||||||
MYLIP_chr6_16124086_16153248 | 16128316 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01361.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(10): Show |
27 | 416 | 0.0649 | -7 | c.-10 others(18): Show |
MYLIP | ENSG00000007944.15 | transcript | ENST00000356840.8 | protein_coding | 769 | chr6 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123607472 | TTATATTA | T | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02486.hp1 others(2): Show |
a0001a0003a0028others(2): Show | a0001c0022a0003c0010a0028c0064others(2): Show | a0001c0022t0050a0003c0010t0011a0028c0064t0011others(2): Show | a0001c0022t0050g0118 a0003c0010t0011g0075 a0028c0064t0011g0025 others(2): Show |
5 | 156 | 0.0321 | -7 | c.*66 others(18): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2576 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123704747 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG02970.hp2 NA18522.hp1 others(3): Show |
a0005a0014 | a0005c0081a0005c0082a0005c0083others(3): Show | a0005c0081t0008a0005c0082t0044a0005c0083t0002others(3): Show | a0005c0081t0008g0077 a0005c0082t0044g0125 a0005c0083t0002g0048 others(3): Show |
6 | 156 | 0.0385 | -7 | c.239 others(26): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 16/33 | chr3 | TogoVar | |||||||
MYMK_chr9_133509586_133529959 | 133511919 | TGTGTGTG | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(262): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(106): Show |
265 | 456 | 0.5811 | -7 | c.*27 others(18): Show |
MYMK | ENSG00000187616.5 | transcript | ENST00000339996.4 | protein_coding | 2666 | chr9 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16662316 | ATTTTTTT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01099.hp2 others(31): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0003a0001c0035others(12): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(24): Show | a0001c0001t0003g0030 a0001c0001t0003g0073 a0001c0001t0003g0090 others(31): Show |
34 | 272 | 0.1250 | -7 | c.*43 others(18): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 41/41 | 4369 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16663328 | GTTTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG01261.hp1 HG02559.hp1 HG02965.hp2 others(3): Show |
a0001a0005a0012others(2): Show | a0001c0001a0005c0005a0012c0017others(2): Show | a0001c0001t0020a0001c0001t0161a0005c0005t0020others(3): Show | a0001c0001t0020g0215 a0001c0001t0161g0269 a0005c0005t0020g0182 others(3): Show |
6 | 272 | 0.0221 | -7 | c.*33 others(18): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 41/41 | 3357 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16677416 | CTTTTTTT | C | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp2 HG02145.hp2 others(12): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0015a0001c0047others(8): Show | a0001c0001t0018a0001c0001t0026a0001c0001t0042others(11): Show | a0001c0001t0018g0244 a0001c0001t0026g0241 a0001c0001t0042g0003 others(12): Show |
15 | 272 | 0.0552 | -7 | c.454 others(26): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 33/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16794383 | TAAAAAAA | T | intron_variant | MODIFIER | HG00738.hp2 HG01071.hp1 HG01433.hp1 others(4): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0001t0007a0001c0001t0035others(1): Show | a0001c0001t0001g0071 a0001c0001t0001g0193 a0001c0001t0007g0070 others(4): Show |
7 | 272 | 0.0257 | -7 | c.467 others(22): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 4/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16796471 | AAGAAAAG | A | intron_variant | MODIFIER | HG02615.hp2 HG02965.hp1 HG02976.hp1 others(3): Show |
a0001a0029a0034 | a0001c0001a0001c0015a0001c0045others(2): Show | a0001c0001t0026a0001c0001t0088a0001c0015t0060others(3): Show | a0001c0001t0026g0241 a0001c0001t0088g0183 a0001c0015t0060g0032 others(3): Show |
6 | 272 | 0.0221 | -7 | c.280 others(24): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 3/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16821443 | CTTTTTTT | C | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02922.hp2 others(3): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0026a0005c0005others(2): Show | a0001c0001t0081a0001c0001t0101a0002c0026t0152others(3): Show | a0001c0001t0081g0246 a0001c0001t0101g0156 a0002c0026t0152g0181 others(3): Show |
6 | 272 | 0.0221 | -7 | c.121 others(24): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16828789 | AACTACAG | A | intron_variant | MODIFIER | NA18971.hp1 NA18999.hp1 NA19056.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0007 | a0001c0001t0119a0002c0002t0027a0002c0002t0077others(1): Show | a0001c0001t0119g0097 a0002c0002t0027g0106 a0002c0002t0077g0098 others(1): Show |
4 | 272 | 0.0147 | -7 | c.121 others(26): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16869020 | CTTTGTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG02129.hp2 HG02258.hp2 others(15): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0022others(9): Show | a0001c0001t0009a0001c0001t0108a0001c0001t0161others(15): Show | a0001c0001t0009g0248 a0001c0001t0108g0088 a0001c0001t0161g0269 others(15): Show |
18 | 272 | 0.0662 | -7 | c.120 others(24): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16899997 | CAAAAAAA | C | intron_variant | MODIFIER | HG01358.hp2 HG01361.hp1 HG02257.hp1 others(6): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0005others(3): Show | a0001c0001t0078a0001c0001t0088a0002c0002t0026others(6): Show | a0001c0001t0078g0075 a0001c0001t0088g0183 a0002c0002t0026g0253 others(6): Show |
9 | 272 | 0.0331 | -7 | c.22- others(24): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO15A_chr17_18103756_18184800 | 18164832 | CAAAAAAA | C | intron_variant | MODIFIER | HG01934.hp1 HG02132.hp1 HG02135.hp2 others(4): Show |
a0020a0024a0043others(1): Show | a0020c0026a0020c0070a0024c0118others(3): Show | a0020c0026t0007a0020c0070t0007a0024c0118t0009others(3): Show | a0020c0026t0007g0249 a0020c0026t0007g0250 a0020c0070t0007g0121 others(4): Show |
7 | 328 | 0.0213 | -7 | c.978 others(26): Show |
MYO15A | ENSG00000091536.20 | transcript | ENST00000647165.2 | protein_coding | 60/65 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |