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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO9A_chr15_71817291_72123150 | 71826007 | TTGTTTTT others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03471.hp1 NA20129.hp1 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0055a0007c0009t0051 | a0001c0001t0055g0006 a0007c0009t0051g0263 |
2 | 308 | 0.0065 | -15 | c.*55 others(24): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 42/42 | 558 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71850765 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01496.hp1 HG03195.hp1 |
a0001a0016 | a0001c0001a0016c0023 | a0001c0001t0001a0016c0023t0001 | a0001c0001t0001g0192 a0001c0001t0001g0202 a0016c0023t0001g0204 |
3 | 308 | 0.0097 | -15 | c.658 others(32): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 37/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928041 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0005 | 1 | 308 | 0.0033 | -15 | c.256 others(34): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928042 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0006 | 1 | 308 | 0.0033 | -15 | c.256 others(34): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 72077747 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0080 | 1 | 308 | 0.0033 | -15 | c.-71 others(34): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO9B_chr19_17070777_17218286 | 17090118 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG03195.hp2 HG03471.hp1 others(4): Show |
a0001a0003a0006 | a0001c0001a0001c0004a0001c0060others(4): Show | a0001c0001t0001a0001c0004t0009a0001c0060t0001others(4): Show | a0001c0001t0001g0076 a0001c0004t0009g0210 a0001c0060t0001g0045 others(4): Show |
7 | 262 | 0.0267 | -15 | c.-58 others(34): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17094015 | TTTGTTGT others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(108): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0004others(30): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(32): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(108): Show |
111 | 262 | 0.4237 | -15 | c.-58 others(32): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17096663 | TTTGTTGT others(8): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 HG02976.hp1 others(5): Show |
a0001a0003a0004others(3): Show | a0001c0060a0001c0065a0003c0063others(5): Show | a0001c0060t0001a0001c0065t0001a0003c0063t0003others(5): Show | a0001c0060t0001g0045 a0001c0065t0001g0047 a0003c0063t0003g0051 others(5): Show |
8 | 262 | 0.0305 | -15 | c.-58 others(32): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17134381 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0009 | a0009c0023 | a0009c0023t0002 | a0009c0023t0002g0041 | 1 | 262 | 0.0038 | -15 | c.841 others(34): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17159991 | CAGCCTGT others(8): Show |
C | intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0026 | a0002c0026t0004 | a0002c0026t0004g0148 | 1 | 262 | 0.0038 | -15 | c.141 others(32): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 8/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12693625 | GAATAAAA others(8): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0090a0001c0001t0091a0001c0001t0105others(1): Show | a0001c0001t0090g0310 a0001c0001t0091g0311 a0001c0001t0105g0309 others(1): Show |
4 | 346 | 0.0116 | -15 | c.56- others(32): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12716985 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG03490.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0067a0001c0001t0172 | a0001c0001t0001g0261 a0001c0001t0067g0324 a0001c0001t0172g0263 |
3 | 346 | 0.0087 | -15 | c.178 others(30): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93303545 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0004 | 1 | 240 | 0.0042 | -15 | c.*34 others(26): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 2883 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93482861 | ATATATAT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 HG03130.hp2 HG03225.hp1 |
a0001 | a0001c0003a0001c0018 | a0001c0003t0001a0001c0018t0001 | a0001c0003t0001g0061 a0001c0003t0001g0071 a0001c0018t0001g0072 |
3 | 240 | 0.0125 | -15 | c.-68 others(24): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 528 | chr10 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3085229 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(128): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0002a0001c0005others(73): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0005others(88): Show | a0001c0001t0003g0235 a0001c0002t0002g0051 a0001c0002t0002g0058 others(128): Show |
131 | 330 | 0.3970 | -15 | c.425 others(31): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 30/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3157680 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01975.hp1 NA20300.hp1 |
a0002a0004 | a0002c0047a0002c0141a0004c0130 | a0002c0047t0001a0002c0141t0001a0004c0130t0001 | a0002c0047t0001g0092 a0002c0141t0001g0160 a0004c0130t0001g0089 |
3 | 330 | 0.0091 | -15 | c.150 others(34): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 10/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3157712 | ATAATAAT others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp1 NA21309.hp2 |
a0004a0033 | a0004c0110a0033c0165 | a0004c0110t0001a0033c0165t0003 | a0004c0110t0001g0001 a0033c0165t0003g0220 |
2 | 330 | 0.0061 | -15 | c.150 others(34): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 10/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3177445 | CATTATTA others(8): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(59): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0026others(30): Show | a0001c0001t0001a0001c0005t0002a0001c0005t0005others(40): Show | a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0005t0002g0061 others(59): Show |
62 | 330 | 0.1879 | -15 | c.930 others(32): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 5/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3181688 | CTTTAAGT others(8): Show |
C | intron_variant | MODIFIER | NA18953.hp2 | a0004 | a0004c0126 | a0004c0126t0001 | a0004c0126t0001g0065 | 1 | 330 | 0.0030 | -15 | c.930 others(32): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 5/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2100096 | CCTTCCTT others(8): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0066 | a0066c0130 | a0066c0130t0001 | a0066c0130t0001g0358 | 1 | 403 | 0.0025 | -15 | c.244 others(32): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM3_chr1_24051041_24117135 | 24067387 | TTTCCTTC others(8): Show |
T | intron_variant | MODIFIER | HG02273.hp2 HG03710.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0069 a0001c0005t0002g0248 |
2 | 364 | 0.0055 | -15 | c.335 others(32): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 27/36 | chr1 | TogoVar | |||||||
MYOM3_chr1_24051041_24117135 | 24075076 | AAAAAGAA others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0035 | a0035c0089 | a0035c0089t0003 | a0035c0089t0003g0057 | 1 | 364 | 0.0028 | -15 | c.285 others(32): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 22/36 | chr1 | TogoVar | |||||||
MYOZ2_chr4_119130832_119192789 | 119172012 | GCATTCAG others(8): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 394 | 0.0025 | -15 | c.560 others(32): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 5/5 | chr4 | TogoVar | |||||||
MYOZ2_chr4_119130832_119192789 | 119179013 | CCTCCTTT others(8): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0299 | 1 | 394 | 0.0025 | -15 | c.561 others(32): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MYOZ3_chr5_150656251_150684368 | 150669633 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 2 | 394 | 0.0051 | -15 | c.62- others(28): Show |
MYOZ3 | ENSG00000164591.14 | transcript | ENST00000517768.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MYPN_chr10_68104488_68217017 | 68138107 | CTTCTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0182 | 1 | 306 | 0.0033 | -15 | c.903 others(32): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 39813539 | GTTACACA others(8): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0001c0001t0003a0002c0010t0004 | a0001c0001t0001g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 others(1): Show |
4 | 170 | 0.0235 | -15 | c.-31 others(32): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 39895901 | CGTGTGTG others(8): Show |
C | intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 170 | 0.0059 | -15 | c.-30 others(32): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40192313 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02486.hp2 others(4): Show |
a0001a0002 | a0001c0004a0001c0006a0002c0011 | a0001c0004t0001a0001c0004t0003a0001c0006t0002others(2): Show | a0001c0004t0001g0025 a0001c0004t0003g0106 a0001c0004t0003g0165 others(4): Show |
7 | 170 | 0.0412 | -15 | c.166 others(34): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40218598 | CATATATA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(37): Show |
40 | 170 | 0.2353 | -15 | c.190 others(34): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58682685 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01169.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0194 a0001c0001t0004g0166 |
2 | 410 | 0.0049 | -15 | c.499 others(30): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 7/19 | chr1 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64195377 | TGTGTGTG others(8): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 223 | 0.0045 | -15 | c.1-3 others(28): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 2/22 | chr20 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64198286 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG03130.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 |
3 | 223 | 0.0135 | -15 | c.1-5 others(26): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57689379 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02647.hp2 NA18522.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0003a0002c0002t0001 | a0001c0001t0001g0241 a0001c0003t0003g0126 a0002c0002t0001g0337 |
3 | 352 | 0.0085 | -15 | c.*48 others(26): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 4016 | chr15 | TogoVar | |||||||
MZF1_chr19_58556932_58578335 | 58564902 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | NA18997.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0107 | 1 | 414 | 0.0024 | -15 | c.773 others(32): Show |
MZF1 | ENSG00000099326.9 | transcript | ENST00000215057.7 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
MZT1_chr13_72703367_72732629 | 72719894 | CGGTTCCA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(235): Show |
333 | 384 | 0.8672 | -15 | c.80- others(28): Show |
MZT1 | ENSG00000204899.6 | transcript | ENST00000377818.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
N4BP1_chr16_48533726_48615180 | 48610860 | TAAAAAAA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02970.hp1 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0210 a0001c0001t0006g0039 |
2 | 324 | 0.0062 | -15 | c.-90 others(24): Show |
N4BP1 | ENSG00000102921.8 | transcript | ENST00000262384.4 | protein_coding | 681 | chr16 | TogoVar | |||||||
N4BP2L2_chr13_32505292_32543795 | 32508736 | GATAAATA others(8): Show |
G | downstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0242 | 1 | 394 | 0.0025 | -15 | c.*90 others(26): Show |
N4BP2L2 | ENSG00000244754.9 | transcript | ENST00000267068.6 | protein_coding | 1555 | chr13 | TogoVar | |||||||
N6AMT1_chr21_28867191_28890367 | 28877139 | GAAGAGAG others(8): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02886.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0051 a0001c0001t0015g0168 a0001c0001t0015g0169 |
4 | 422 | 0.0095 | -15 | c.539 others(30): Show |
N6AMT1 | ENSG00000156239.12 | transcript | ENST00000303775.10 | protein_coding | 5/5 | chr21 | TogoVar | |||||||
NAA16_chr13_41306267_41382030 | 41340647 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(86): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0011a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0017 a0001c0001t0001g0175 a0001c0001t0001g0212 others(81): Show |
89 | 354 | 0.2514 | -15 | c.101 others(34): Show |
NAA16 | ENSG00000172766.19 | transcript | ENST00000379406.8 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NAA20_chr20_20012362_20038655 | 20015747 | CACAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 438 | 0.0023 | -15 | c.-16 others(26): Show |
NAA20 | ENSG00000173418.12 | transcript | ENST00000334982.9 | protein_coding | 1614 | chr20 | TogoVar | |||||||
NAA25_chr12_112021689_112113783 | 112059075 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01361.hp2 NA21309.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0224 a0003c0003t0001g0226 a0003c0003t0001g0256 |
3 | 342 | 0.0088 | -15 | c.144 others(34): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 13/23 | chr12 | TogoVar | |||||||
NAA25_chr12_112021689_112113783 | 112086014 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 342 | 0.0029 | -15 | c.402 others(32): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 4/23 | chr12 | TogoVar | |||||||
NAA35_chr9_85936146_86030462 | 85955346 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0015 | 1 | 288 | 0.0035 | -15 | c.125 others(31): Show |
NAA35 | ENSG00000135040.16 | transcript | ENST00000361671.10 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NAA35_chr9_85936146_86030462 | 86027176 | AAAAATGA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 288 | 0.0035 | -15 | c.*52 others(26): Show |
NAA35 | ENSG00000135040.16 | transcript | ENST00000361671.10 | protein_coding | 1715 | chr9 | TogoVar | |||||||
NAA60_chr16_3438680_3491953 | 3450072 | CTTTGGAA others(8): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0010 | a0001c0001t0001g0307 a0001c0002t0010g0021 a0001c0002t0010g0330 |
4 | 376 | 0.0106 | -15 | c.-7+ others(30): Show |
NAA60 | ENSG00000122390.19 | transcript | ENST00000407558.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NAA60_chr16_3438680_3491953 | 3457903 | GCCTGCCC others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(198): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0061 a0001c0001t0001g0265 a0001c0001t0002g0294 others(184): Show |
201 | 376 | 0.5346 | -15 | c.-7+ others(30): Show |
NAA60 | ENSG00000122390.19 | transcript | ENST00000407558.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NAAA_chr4_75908660_75946013 | 75934052 | GTAATAAT others(8): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG01175.hp2 HG01243.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0186 others(22): Show |
25 | 400 | 0.0625 | -15 | c.498 others(32): Show |
NAAA | ENSG00000138744.16 | transcript | ENST00000286733.9 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
NAALAD2_chr11_90129663_90197894 | 90167208 | ACCGGGGC others(8): Show |
A | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0022 | 1 | 364 | 0.0028 | -15 | c.127 others(34): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAALADL1_chr11_65039818_65063553 | 65051315 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG01175.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0090 a0001c0001t0001g0107 others(3): Show |
11 | 372 | 0.0296 | -15 | c.119 others(34): Show |
NAALADL1 | ENSG00000168060.16 | transcript | ENST00000358658.8 | protein_coding | 8/17 | chr11 | TogoVar |