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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO5A_chr15_52302283_52533880 | 52459147 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | NA18978.hp1 NA18984.hp1 NA18984.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0050a0001c0003t0034 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0172others(3): Show | 6 | 302 | 0.0199 | -8 | c.28- others(25): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52523243 | CCTTCACC others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG00738.hp2 others(61): Show |
a0001a0002a0007 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0006t0013a0001c0006t0015others(12): Show | a0001c0001t0001g0136a0001c0006t0013g0003a0001c0006t0013g0004others(61): Show | 64 | 302 | 0.2119 | -8 | c.27+ others(23): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52524553 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02809.hp2 HG03041.hp1 others(1): Show |
a0001a0003 | a0001c0003a0001c0006a0003c0005 | a0001c0003t0004a0001c0006t0011a0003c0005t0007 | a0001c0003t0004g0074a0001c0006t0011g0258a0001c0006t0011g0259others(1): Show | 4 | 302 | 0.0133 | -8 | c.27+ others(23): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49830145 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02109.hp2 HG03130.hp1 others(6): Show |
a0002a0007a0010 | a0002c0010a0007c0011a0007c0059others(1): Show | a0002c0010t0012a0007c0011t0010a0007c0059t0010others(1): Show | a0002c0010t0012g0089a0002c0010t0012g0125a0002c0010t0012g0140others(6): Show | 9 | 238 | 0.0378 | -8 | c.539 others(27): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 39/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49954022 | ATATGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01256.hp2 HG01516.hp2 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0034others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(7): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0185others(13): Show | 16 | 238 | 0.0672 | -8 | c.166 others(25): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 13/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49954024 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02896.hp2 NA18994.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0006a0001c0002t0001a0002c0003t0002others(1): Show | a0001c0001t0006g0222a0001c0002t0001g0128a0002c0003t0002g0010others(3): Show | 6 | 238 | 0.0252 | -8 | c.166 others(25): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 13/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49978694 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG02132.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0006a0002c0003t0002others(2): Show | a0001c0001t0001g0039a0001c0001t0006g0217a0002c0003t0002g0175others(3): Show | 6 | 238 | 0.0252 | -8 | c.105 others(27): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 9/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50043408 | ATTAAATA others(1): Show |
A | intron_variant | MODIFIER | HG02132.hp2 HG02135.hp2 |
a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0043a0004c0007t0004g0044 | 2 | 238 | 0.0084 | -8 | c.139 others(25): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 2/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50068036 | CACACATA others(1): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02970.hp1 HG02976.hp1 others(4): Show |
a0001a0008a0010 | a0001c0001a0001c0002a0008c0055others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0189a0001c0001t0002g0019others(4): Show | 7 | 238 | 0.0294 | -8 | c.28- others(25): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50077502 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 NA19030.hp2 others(1): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0005c0052others(1): Show | a0001c0002t0005a0002c0003t0002a0005c0052t0031others(1): Show | a0001c0002t0005g0160a0002c0003t0002g0194a0005c0052t0031g0219others(1): Show | 4 | 238 | 0.0168 | -8 | c.28- others(25): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50093199 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp2 others(54): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0002c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(26): Show | a0001c0001t0001g0018a0001c0001t0001g0021a0001c0001t0001g0058others(54): Show | 57 | 238 | 0.2395 | -8 | c.28- others(25): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50104265 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01243.hp1 others(5): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0020others(2): Show | a0001c0001t0006a0001c0002t0011a0001c0020t0018others(2): Show | a0001c0001t0006g0223a0001c0001t0006g0225a0001c0001t0006g0226others(5): Show | 8 | 238 | 0.0336 | -8 | c.28- others(25): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50105204 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(32): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0013others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(16): Show | a0001c0001t0001g0027a0001c0001t0001g0033a0001c0001t0001g0034others(32): Show | 35 | 238 | 0.1471 | -8 | c.28- others(25): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50115543 | GAGAGACA others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02922.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0006 | a0001c0001t0006g0214a0001c0002t0006g0213 | 2 | 238 | 0.0084 | -8 | c.28- others(25): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50134554 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01069.hp2 others(29): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0056others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0056t0002others(16): Show | a0001c0001t0001g0021a0001c0001t0001g0039a0001c0001t0001g0058others(29): Show | 32 | 238 | 0.1345 | -8 | c.27+ others(25): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50145497 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(18): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(10): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0002others(10): Show | a0001c0001t0001g0021a0001c0001t0001g0033a0001c0001t0001g0034others(18): Show | 21 | 238 | 0.0882 | -8 | c.27+ others(25): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50183306 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG03130.hp2 |
a0001a0013 | a0001c0002a0013c0014 | a0001c0002t0011a0013c0014t0002 | a0001c0002t0011g0224a0013c0014t0002g0090a0013c0014t0002g0091 | 3 | 238 | 0.0126 | -8 | c.27+ others(25): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50197233 | TAATAAAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01255.hp1 HG03927.hp2 |
a0001a0032 | a0001c0001a0001c0002a0032c0060 | a0001c0001t0001a0001c0002t0002a0032c0060t0004 | a0001c0001t0001g0039a0001c0002t0002g0024a0032c0060t0004g0026 | 3 | 238 | 0.0126 | -8 | c.-24 others(19): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 2087 | chr18 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52232168 | AAGGAAGG others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0004a0001c0030 | a0001c0004t0002a0001c0004t0032a0001c0030t0038 | a0001c0004t0002g0308a0001c0004t0002g0309a0001c0004t0002g0310others(2): Show | 5 | 360 | 0.0139 | -8 | c.302 others(25): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 24/40 | chr15 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75787676 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01943.hp1 HG02155.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(9): Show | a0001c0001t0003g0093a0001c0001t0008g0142a0001c0001t0008g0257others(11): Show | 14 | 358 | 0.0391 | -8 | c.-47 others(27): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYO6_chr6_75744239_75924537 | 75787724 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG02683.hp2 HG03710.hp2 NA18956.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0072a0001c0003t0002 | a0001c0001t0001g0035a0001c0001t0001g0044a0001c0001t0001g0064others(2): Show | 5 | 358 | 0.0140 | -8 | c.-47 others(27): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYO6_chr6_75744239_75924537 | 75794732 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02129.hp2 NA18966.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0018a0001c0001t0044others(4): Show | a0001c0001t0009g0327a0001c0001t0018g0340a0001c0001t0018g0348others(6): Show | 9 | 358 | 0.0251 | -8 | c.-47 others(27): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYO7A_chr11_77123246_77220241 | 77125614 | CTATATAT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(67): Show |
a0001a0002a0003others(15): Show | a0001c0003a0001c0005a0001c0018others(34): Show | a0001c0003t0001a0001c0005t0001a0001c0018t0001others(35): Show | a0001c0003t0001g0080a0001c0005t0001g0040a0001c0005t0001g0314others(64): Show | 70 | 356 | 0.1966 | -8 | c.-29 others(19): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 2631 | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77134022 | TGGGTTCA others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01081.hp2 others(51): Show |
a0001a0002a0003others(14): Show | a0001c0003a0001c0042a0001c0068others(23): Show | a0001c0003t0001a0001c0042t0001a0001c0068t0001others(23): Show | a0001c0003t0001g0101a0001c0042t0001g0328a0001c0068t0001g0333others(50): Show | 54 | 356 | 0.1517 | -8 | c.18+ others(23): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 2/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYO7A_chr11_77123246_77220241 | 77192919 | AGTGATGG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01255.hp2 others(1): Show |
a0010a0011a0014others(1): Show | a0010c0088a0011c0028a0014c0103others(1): Show | a0010c0088t0003a0011c0028t0001a0014c0103t0003others(1): Show | a0010c0088t0003g0248a0011c0028t0001g0324a0014c0103t0003g0218others(1): Show | 4 | 356 | 0.0112 | -8 | c.415 others(25): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYO7B_chr2_127530683_127642726 | 127549159 | CCTTCCTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00735.hp1 others(108): Show |
a0001a0002a0003others(20): Show | a0001c0002a0001c0004a0001c0005others(30): Show | a0001c0002t0001a0001c0004t0001a0001c0005t0002others(33): Show | a0001c0002t0001g0103a0001c0002t0001g0149a0001c0004t0001g0199others(104): Show | 111 | 282 | 0.3936 | -8 | c.-23 others(27): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO7B_chr2_127530683_127642726 | 127549163 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0010a0001c0018 | a0001c0010t0001a0001c0018t0001 | a0001c0010t0001g0270a0001c0010t0001g0271a0001c0018t0001g0272others(2): Show | 5 | 282 | 0.0177 | -8 | c.-23 others(27): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO7B_chr2_127530683_127642726 | 127549178 | TTCTTTCT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00642.hp1 others(81): Show |
a0001a0002a0003others(17): Show | a0001c0002a0001c0004a0001c0005others(30): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(34): Show | a0001c0002t0001g0024a0001c0002t0001g0029a0001c0002t0001g0031others(80): Show | 84 | 282 | 0.2979 | -8 | c.-23 others(27): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO7B_chr2_127530683_127642726 | 127597611 | ATATTTAT others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01256.hp1 HG01258.hp2 others(23): Show |
a0001a0002a0005others(3): Show | a0001c0004a0001c0005a0001c0058others(7): Show | a0001c0004t0001a0001c0005t0001a0001c0005t0002others(9): Show | a0001c0004t0001g0040a0001c0005t0001g0045a0001c0005t0001g0095others(23): Show | 26 | 282 | 0.0922 | -8 | c.233 others(27): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 19/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO9A_chr15_71817291_72123150 | 71850765 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(108): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0011others(11): Show | a0001c0001t0053a0001c0002t0002a0001c0002t0004others(32): Show | a0001c0001t0053g0004a0001c0002t0002g0019a0001c0002t0002g0021others(108): Show | 111 | 308 | 0.3604 | -8 | c.658 others(25): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 37/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71867798 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01167.hp1 others(48): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0045others(15): Show | a0001c0001t0001g0121a0001c0001t0001g0154a0001c0001t0001g0157others(48): Show | 51 | 308 | 0.1656 | -8 | c.598 others(27): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 32/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71925208 | CATGTGTA others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG02723.hp2 others(4): Show |
a0007a0016 | a0007c0008a0016c0029 | a0007c0008t0001a0007c0008t0005a0007c0008t0022others(2): Show | a0007c0008t0001g0209a0007c0008t0005g0205a0007c0008t0005g0206others(4): Show | 7 | 308 | 0.0227 | -8 | c.256 others(27): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71935903 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01192.hp2 HG02083.hp1 others(8): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0007a0001c0002t0042a0001c0011t0007others(1): Show | a0001c0002t0007g0003a0001c0002t0007g0007a0001c0002t0007g0008others(8): Show | 11 | 308 | 0.0357 | -8 | c.237 others(25): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 16/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71981641 | GTCTCTCT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02886.hp1 HG03130.hp1 others(2): Show |
a0008 | a0008c0009a0008c0018 | a0008c0009t0018a0008c0009t0024a0008c0009t0050others(1): Show | a0008c0009t0018g0265a0008c0009t0024g0269a0008c0009t0024g0270others(2): Show | 5 | 308 | 0.0162 | -8 | c.172 others(27): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 11/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 72008436 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG02083.hp1 NA18942.hp2 others(7): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0007a0001c0002t0042a0001c0011t0007others(1): Show | a0001c0002t0007g0003a0001c0002t0007g0007a0001c0002t0007g0008others(7): Show | 10 | 308 | 0.0325 | -8 | c.125 others(25): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 7/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 72050606 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG02970.hp2 HG03540.hp1 others(1): Show |
a0008a0014 | a0008c0009a0014c0016 | a0008c0009t0024a0008c0009t0051a0014c0016t0018 | a0008c0009t0024g0269a0008c0009t0024g0270a0008c0009t0051g0263others(1): Show | 4 | 308 | 0.0130 | -8 | c.-71 others(25): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 72077746 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02258.hp2 others(5): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0007 | a0001c0001t0014a0001c0002t0004a0006c0007t0040others(1): Show | a0001c0001t0014g0113a0001c0001t0014g0225a0001c0002t0004g0094others(5): Show | 8 | 308 | 0.0260 | -8 | c.-71 others(27): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17096696 | GTTGTTGT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(102): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0004others(31): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(32): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(102): Show | 105 | 262 | 0.4008 | -8 | c.-58 others(25): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | chr19 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17096980 | ACGCCCGG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(17): Show |
a0001a0002a0024 | a0001c0009a0001c0010a0001c0014others(7): Show | a0001c0009t0001a0001c0010t0001a0001c0014t0001others(7): Show | a0001c0009t0001g0056a0001c0009t0001g0060a0001c0009t0001g0061others(17): Show | 20 | 262 | 0.0763 | -8 | c.-58 others(25): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYO9B_chr19_17070777_17218286 | 17109032 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00639.hp2 others(55): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0011a0001c0003t0001others(13): Show | a0001c0001t0001g0035a0001c0001t0001g0039a0001c0001t0001g0202others(55): Show | 58 | 262 | 0.2214 | -8 | c.840 others(25): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYO9B_chr19_17070777_17218286 | 17123424 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(7): Show |
a0001a0002a0020 | a0001c0001a0001c0003a0001c0010others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0079a0001c0001t0001g0085a0001c0001t0001g0115others(7): Show | 10 | 262 | 0.0382 | -8 | c.840 others(27): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYO9B_chr19_17070777_17218286 | 17146155 | GTGGATAG others(1): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG03098.hp1 HG03130.hp1 others(3): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0007a0005c0056others(2): Show | a0001c0001t0001a0002c0007t0004a0005c0056t0003others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0179a0002c0007t0004g0009others(3): Show | 6 | 262 | 0.0229 | -8 | c.935 others(23): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYO9B_chr19_17070777_17218286 | 17146161 | AGATGGAT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01891.hp2 HG02083.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0014others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0014t0001others(4): Show | a0001c0001t0001g0031a0001c0001t0001g0035a0001c0003t0001g0235others(6): Show | 9 | 262 | 0.0344 | -8 | c.935 others(23): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYO9B_chr19_17070777_17218286 | 17150571 | CTCACATG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(23): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(13): Show | a0001c0001t0001g0033a0001c0001t0001g0079a0001c0001t0001g0085others(23): Show | 26 | 262 | 0.0992 | -8 | c.936 others(25): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 3/39 | chr19 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17170647 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01981.hp2 HG01993.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0019a0002c0005 | a0001c0001t0001a0001c0019t0001a0002c0005t0006 | a0001c0001t0001g0028a0001c0001t0001g0115a0001c0001t0001g0214others(2): Show | 5 | 262 | 0.0191 | -8 | c.179 others(27): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 11/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYO9B_chr19_17070777_17218286 | 17197406 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 NA18969.hp1 NA18969.hp2 others(1): Show |
a0002 | a0002c0002a0002c0005a0002c0054 | a0002c0002t0002a0002c0005t0002a0002c0054t0004 | a0002c0002t0002g0153a0002c0005t0002g0083a0002c0005t0002g0089others(1): Show | 4 | 262 | 0.0153 | -8 | c.404 others(25): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 22/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYO9B_chr19_17070777_17218286 | 17215215 | GGCATTAC others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02145.hp2 others(1): Show |
a0002a0007 | a0002c0008a0007c0041a0007c0061 | a0002c0008t0004a0007c0041t0001a0007c0061t0001 | a0002c0008t0004g0002a0002c0008t0004g0005a0007c0041t0001g0211others(1): Show | 4 | 262 | 0.0153 | -8 | c.*29 others(19): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1930 | chr19 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12660960 | TGTGTGTG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02683.hp2 HG02738.hp1 HG03927.hp2 others(1): Show |
a0001a0021 | a0001c0001a0001c0002a0021c0013 | a0001c0001t0143a0001c0001t0176a0001c0002t0003others(1): Show | a0001c0001t0143g0015a0001c0001t0176g0012a0001c0002t0003g0299others(1): Show | 4 | 346 | 0.0116 | -8 | c.-52 others(19): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 4929 | chr17 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12676245 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00609.hp1 others(24): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0124a0001c0001t0001g0176a0001c0001t0001g0177others(24): Show | 27 | 346 | 0.0780 | -8 | c.55+ others(25): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYOCD_chr17_12660890_12773949 | 12694881 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG02055.hp2 HG02559.hp2 others(7): Show |
a0001a0017 | a0001c0001a0001c0006a0017c0020 | a0001c0001t0001a0001c0001t0010a0001c0001t0016others(4): Show | a0001c0001t0001g0261a0001c0001t0001g0343a0001c0001t0010g0223others(7): Show | 10 | 346 | 0.0289 | -8 | c.56- others(25): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |