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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYOCD_chr17_12660890_12773949 | 12698729 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01106.hp1 others(31): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(24): Show | a0001c0001t0002g0241a0001c0001t0002g0242a0001c0001t0002g0244others(31): Show | 34 | 346 | 0.0983 | -8 | c.56- others(23): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYOCD_chr17_12660890_12773949 | 12716985 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01192.hp1 HG01346.hp2 others(21): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(18): Show | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0001t0005g0141others(20): Show | 24 | 346 | 0.0694 | -8 | c.178 others(23): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYOCD_chr17_12660890_12773949 | 12761590 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02056.hp1 HG02129.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0155a0001c0001t0004g0277a0001c0001t0005g0141others(19): Show | 22 | 346 | 0.0636 | -8 | c.238 others(25): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYOCD_chr17_12660890_12773949 | 12770918 | TTTTATTT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00558.hp2 HG02074.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0155a0001c0002t0192a0001c0003t0104 | a0001c0001t0155g0120a0001c0002t0192g0133a0001c0003t0104g0020 | 3 | 346 | 0.0087 | -8 | c.*72 others(19): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1970 | chr17 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93401824 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01175.hp1 others(2): Show |
a0001a0002a0015 | a0001c0001a0002c0011a0015c0028 | a0001c0001t0001a0001c0001t0002a0002c0011t0001others(1): Show | a0001c0001t0001g0082a0001c0001t0001g0161a0001c0001t0002g0219others(2): Show | 5 | 240 | 0.0208 | -8 | c.991 others(23): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 11/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93428566 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(33): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(13): Show | a0001c0001t0001g0047a0001c0001t0001g0049a0001c0001t0001g0067others(33): Show | 36 | 240 | 0.1500 | -8 | c.346 others(25): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 4/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93441997 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02132.hp2 HG02922.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0138a0003c0007t0001g0005 | 2 | 240 | 0.0083 | -8 | c.236 others(27): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 3/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93443470 | CTCTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02258.hp2 others(5): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0057others(4): Show | a0001c0001t0001a0001c0003t0002a0001c0057t0001others(4): Show | a0001c0001t0001g0119a0001c0003t0002g0207a0001c0057t0001g0051others(5): Show | 8 | 240 | 0.0333 | -8 | c.236 others(25): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 3/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93443472 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02559.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0039a0001c0002t0001g0007a0001c0002t0001g0037others(4): Show | 7 | 240 | 0.0292 | -8 | c.236 others(25): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 3/53 | chr10 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93482845 | TTATATAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG03209.hp2 NA18522.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0232a0001c0004t0003g0237 | 2 | 240 | 0.0083 | -8 | c.-65 others(17): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 512 | chr10 | TogoVar | ||||||
MYOG_chr1_203078129_203091012 | 203078752 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(26): Show | 50 | 460 | 0.1087 | -8 | c.*51 others(19): Show |
MYOG | ENSG00000122180.5 | transcript | ENST00000241651.5 | protein_coding | 4376 | chr1 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3066291 | TTATGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01167.hp2 others(8): Show |
a0002a0007a0010others(6): Show | a0002c0044a0007c0151a0010c0172others(6): Show | a0002c0044t0003a0007c0151t0001a0010c0172t0001others(6): Show | a0002c0044t0003g0206a0007c0151t0001g0079a0010c0172t0001g0124others(8): Show | 11 | 330 | 0.0333 | -8 | c.*96 others(17): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 515 | chr18 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3066293 | ATGTGTGT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00597.hp2 others(58): Show |
a0001a0002a0003others(12): Show | a0001c0012a0001c0034a0001c0080others(37): Show | a0001c0012t0001a0001c0012t0003a0001c0034t0003others(45): Show | a0001c0012t0001g0097a0001c0012t0001g0129a0001c0012t0003g0210others(58): Show | 61 | 330 | 0.1849 | -8 | c.*96 others(17): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 513 | chr18 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3070736 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(68): Show |
a0001a0002a0003others(19): Show | a0001c0012a0001c0034a0001c0080others(42): Show | a0001c0012t0001a0001c0012t0003a0001c0034t0003others(52): Show | a0001c0012t0001g0097a0001c0012t0001g0127a0001c0012t0001g0129others(68): Show | 71 | 330 | 0.2152 | -8 | c.476 others(27): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 37/37 | chr18 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3159874 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(65): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0002c0003others(46): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(52): Show | a0001c0001t0003g0224a0001c0001t0003g0239a0001c0001t0004g0319others(65): Show | 68 | 330 | 0.2061 | -8 | c.150 others(27): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 10/37 | chr18 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3173573 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp1 NA19074.hp2 |
a0004a0038 | a0004c0144a0004c0184a0038c0089 | a0004c0144t0003a0004c0184t0001a0038c0089t0002 | a0004c0144t0003g0203a0004c0184t0001g0032a0038c0089t0002g0109 | 3 | 330 | 0.0091 | -8 | c.117 others(25): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 8/37 | chr18 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3186798 | GAAAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp1 HG02976.hp1 |
a0004a0010a0055 | a0004c0111a0010c0162a0055c0164 | a0004c0111t0003a0010c0162t0003a0055c0164t0003 | a0004c0111t0003g0176a0010c0162t0003g0171a0055c0164t0003g0152 | 3 | 330 | 0.0091 | -8 | c.929 others(23): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 5/37 | chr18 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3186802 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02258.hp2 others(10): Show |
a0002a0004a0011others(3): Show | a0002c0015a0002c0117a0002c0146others(8): Show | a0002c0015t0001a0002c0117t0001a0002c0146t0001others(9): Show | a0002c0015t0001g0179a0002c0117t0001g0121a0002c0146t0001g0135others(10): Show | 13 | 330 | 0.0394 | -8 | c.929 others(23): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 5/37 | chr18 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3186818 | AAGAAAGA others(1): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp1 NA19043.hp2 |
a0002a0035 | a0002c0107a0002c0108a0035c0179 | a0002c0107t0001a0002c0108t0001a0035c0179t0001 | a0002c0107t0001g0034a0002c0108t0001g0033a0035c0179t0001g0005 | 3 | 330 | 0.0091 | -8 | c.929 others(23): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 5/37 | chr18 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2040507 | ATCTATCT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00639.hp2 others(96): Show |
a0001a0002a0003others(33): Show | a0001c0002a0001c0003a0001c0009others(73): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(78): Show | a0001c0002t0001g0097a0001c0002t0001g0383a0001c0002t0002g0371others(95): Show | 99 | 403 | 0.2457 | -8 | c.-46 others(19): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 4538 | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2100101 | CTTCCTTC others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG02056.hp2 others(6): Show |
a0002a0004a0022 | a0002c0025a0002c0032a0004c0007others(3): Show | a0002c0025t0002a0002c0032t0002a0004c0007t0001others(3): Show | a0002c0025t0002g0310a0002c0032t0002g0254a0002c0032t0002g0286others(6): Show | 9 | 403 | 0.0223 | -8 | c.244 others(25): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2100109 | TTTCTTTC others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01255.hp1 HG01346.hp2 others(14): Show |
a0001a0003a0006others(6): Show | a0001c0014a0001c0020a0001c0039others(13): Show | a0001c0014t0002a0001c0020t0002a0001c0039t0001others(14): Show | a0001c0014t0002g0290a0001c0020t0002g0249a0001c0039t0001g0012others(14): Show | 17 | 403 | 0.0422 | -8 | c.244 others(25): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2100121 | CTTCCTTC others(1): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG02165.hp1 HG02717.hp1 others(4): Show |
a0002a0004a0022 | a0002c0006a0002c0025a0002c0037others(3): Show | a0002c0006t0001a0002c0025t0002a0002c0037t0001others(3): Show | a0002c0006t0001g0027a0002c0025t0002g0310a0002c0037t0001g0047others(4): Show | 7 | 403 | 0.0174 | -8 | c.244 others(25): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2100129 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01123.hp2 HG01175.hp1 others(7): Show |
a0001a0002a0005others(6): Show | a0001c0003a0002c0015a0005c0005others(6): Show | a0001c0003t0001a0002c0015t0001a0005c0005t0001others(6): Show | a0001c0003t0001g0032a0002c0015t0001g0122a0002c0015t0001g0136others(7): Show | 10 | 403 | 0.0248 | -8 | c.244 others(25): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM3_chr1_24051041_24117135 | 24067387 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(54): Show |
a0001a0002a0003others(14): Show | a0001c0005a0002c0001a0003c0003others(17): Show | a0001c0005t0001a0002c0001t0001a0003c0003t0001others(18): Show | a0001c0005t0001g0259a0001c0005t0001g0336a0002c0001t0001g0071others(52): Show | 57 | 364 | 0.1566 | -8 | c.335 others(25): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 27/36 | chr1 | TogoVar | ||||||
MYOM3_chr1_24051041_24117135 | 24085280 | AGATGGAT others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01106.hp1 HG01243.hp2 others(42): Show |
a0001a0003a0005others(23): Show | a0001c0071a0003c0003a0005c0013others(24): Show | a0001c0071t0001a0003c0003t0001a0005c0013t0005others(24): Show | a0001c0071t0001g0344a0003c0003t0001g0307a0003c0003t0001g0308others(40): Show | 45 | 364 | 0.1236 | -8 | c.179 others(25): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 15/36 | chr1 | TogoVar | ||||||
MYOM3_chr1_24051041_24117135 | 24113258 | CTTTTTCT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01070.hp2 HG01081.hp1 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0019a0002c0001a0004c0004others(2): Show | a0001c0019t0004a0002c0001t0001a0004c0004t0001others(3): Show | a0001c0019t0004g0132a0002c0001t0001g0070a0002c0001t0001g0112others(5): Show | 8 | 364 | 0.0220 | -8 | c.-12 others(19): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 1124 | chr1 | TogoVar | ||||||
MYOT_chr5_137862860_137892851 | 137870288 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | NA18955.hp1 NA18955.hp2 NA19003.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0073a0001c0001t0002g0013 | 4 | 352 | 0.0114 | -8 | c.-21 others(25): Show |
MYOT | ENSG00000120729.10 | transcript | ENST00000239926.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MYOZ2_chr4_119130832_119192789 | 119134250 | CTAGATAG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0289a0001c0001t0001g0296others(5): Show | 8 | 394 | 0.0203 | -8 | c.-17 others(19): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 1581 | chr4 | TogoVar | ||||||
MYOZ2_chr4_119130832_119192789 | 119145506 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG01243.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0052others(16): Show | 23 | 394 | 0.0584 | -8 | c.77- others(23): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MYOZ3_chr5_150656251_150684368 | 150657428 | TCTCTCAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp1 HG02071.hp1 HG02080.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0012others(7): Show | 12 | 394 | 0.0305 | -8 | c.-40 others(19): Show |
MYOZ3 | ENSG00000164591.14 | transcript | ENST00000517768.6 | protein_coding | 3822 | chr5 | TogoVar | ||||||
MYOZ3_chr5_150656251_150684368 | 150657432 | TCACACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(34): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0017a0001c0003t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(28): Show | 37 | 394 | 0.0939 | -8 | c.-39 others(19): Show |
MYOZ3 | ENSG00000164591.14 | transcript | ENST00000517768.6 | protein_coding | 3818 | chr5 | TogoVar | ||||||
MYPN_chr10_68104488_68217017 | 68119385 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02129.hp1 HG02698.hp2 NA18989.hp2 others(1): Show |
a0001 | a0001c0001a0001c0024 | a0001c0001t0001a0001c0001t0002a0001c0024t0003 | a0001c0001t0001g0035a0001c0001t0001g0037a0001c0001t0002g0036others(1): Show | 4 | 306 | 0.0131 | -8 | c.-1- others(23): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYPN_chr10_68104488_68217017 | 68173574 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00735.hp1 others(39): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0003a0001c0024others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0077a0001c0001t0002g0220a0001c0001t0003g0015others(39): Show | 42 | 306 | 0.1373 | -8 | c.197 others(25): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYPN_chr10_68104488_68217017 | 68185156 | GGGAGGGA others(1): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG06807.hp1 NA20300.hp2 |
a0005a0010 | a0005c0009a0010c0060 | a0005c0009t0004a0010c0060t0004 | a0005c0009t0004g0101a0005c0009t0004g0102a0010c0060t0004g0283 | 3 | 306 | 0.0098 | -8 | c.270 others(27): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYPN_chr10_68104488_68217017 | 68193797 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02109.hp1 others(7): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0006a0001c0031others(5): Show | a0001c0001t0002a0001c0006t0002a0001c0031t0002others(5): Show | a0001c0001t0002g0210a0001c0006t0002g0039a0001c0006t0002g0055others(7): Show | 10 | 306 | 0.0327 | -8 | c.292 others(25): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYRFL_chr12_69820227_69964097 | 69832944 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(172): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0015others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0014others(171): Show | 175 | 322 | 0.5435 | -8 | c.46+ others(23): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYRFL_chr12_69820227_69964097 | 69852653 | CATAGGAC others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02818.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0004 | a0001c0001t0001g0087a0001c0001t0001g0302a0001c0001t0001g0306others(4): Show | 7 | 322 | 0.0217 | -8 | c.47- others(23): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYRFL_chr12_69820227_69964097 | 69864662 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp2 others(74): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0001g0063a0001c0001t0001g0081a0001c0001t0001g0112others(74): Show | 77 | 322 | 0.2391 | -8 | c.137 others(25): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYRFL_chr12_69820227_69964097 | 69871231 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG01884.hp2 others(13): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(3): Show | a0001c0001t0001g0087a0001c0001t0001g0242a0001c0001t0001g0243others(13): Show | 16 | 322 | 0.0497 | -8 | c.138 others(25): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 39893674 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02615.hp2 HG02647.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0003 | a0001c0001t0001a0001c0001t0009a0002c0005t0004others(1): Show | a0001c0001t0001g0167a0001c0001t0009g0161a0002c0005t0004g0168others(5): Show | 8 | 170 | 0.0471 | -8 | c.-30 others(25): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 39895916 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG03225.hp1 HG06807.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0008 | a0001c0001t0018a0001c0004t0007a0002c0008t0019 | a0001c0001t0018g0095a0001c0004t0007g0086a0001c0004t0007g0093others(1): Show | 4 | 170 | 0.0235 | -8 | c.-30 others(25): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 39986447 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG01981.hp2 HG02027.hp1 HG02559.hp2 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(21): Show | 24 | 170 | 0.1412 | -8 | c.111 others(27): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40108174 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01192.hp2 HG01884.hp1 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(31): Show | 34 | 170 | 0.2000 | -8 | c.333 others(27): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40110881 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01168.hp2 others(34): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009others(34): Show | 37 | 170 | 0.2177 | -8 | c.333 others(27): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40118559 | GTTTATTT others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0004a0001c0006a0001c0014 | a0001c0004t0001a0001c0006t0006a0001c0014t0007 | a0001c0004t0001g0079a0001c0006t0006g0088a0001c0006t0006g0089others(1): Show | 4 | 170 | 0.0235 | -8 | c.333 others(27): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40129440 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01884.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(20): Show | 23 | 170 | 0.1353 | -8 | c.333 others(27): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40202906 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01255.hp1 HG01256.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0008others(4): Show | a0001c0001t0003a0001c0002t0002a0002c0008t0019others(4): Show | a0001c0001t0003g0047a0001c0002t0002g0107a0001c0002t0002g0146others(10): Show | 13 | 170 | 0.0765 | -8 | c.166 others(27): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40203859 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG02698.hp1 NA18970.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0005 | a0001c0001t0001g0059a0004c0009t0005g0114 | 2 | 170 | 0.0118 | -8 | c.166 others(27): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40204224 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02896.hp2 NA19240.hp1 NA20129.hp2 |
a0001a0002 | a0001c0006a0002c0010 | a0001c0006t0006a0002c0010t0004 | a0001c0006t0006g0084a0001c0006t0006g0088a0002c0010t0004g0045 | 3 | 170 | 0.0177 | -8 | c.166 others(27): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |