| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MNAT1_chr14_60729761_60974965 | 60746907 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG02056.hp1 HG03688.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0170others(6): Show | 9 | 272 | 0.0331 | -46 | c.89+ others(63): Show |
MNAT1 | ENSG00000020426.11 | transcript | ENST00000261245.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MOCS1_chr6_39899170_39939462 | 39923762 | CAGGAGGG others(39): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 272 | 0.0037 | -46 | c.418 others(63): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 3/10 | chr6 | TogoVar | ||||||
| MPP4_chr2_201639874_201703644 | 201685208 | CTCAATCA others(39): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0206 | 1 | 416 | 0.0024 | -46 | c.493 others(60): Show |
MPP4 | ENSG00000082126.18 | transcript | ENST00000409474.8 | protein_coding | 6/21 | chr2 | TogoVar | ||||||
| MPP7_chr10_28045993_28308064 | 28262198 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0186 | 1 | 300 | 0.0033 | -46 | c.-13 others(67): Show |
MPP7 | ENSG00000150054.19 | transcript | ENST00000683449.1 | protein_coding | 1/16 | chr10 | TogoVar | ||||||
| MROH2A_chr2_233773330_233838418 | 233830599 | GGGTGGCC others(39): Show |
G | intron_variant | MODIFIER | HG03516.hp2 NA18943.hp1 |
a0002a0014 | a0002c0015a0014c0109 | a0002c0015t0001a0014c0109t0001 | a0002c0015t0001g0327a0014c0109t0001g0103 | 2 | 378 | 0.0053 | -46 | c.460 others(63): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 38/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MRPS23_chr17_57829781_57855044 | 57846132 | AGCCAGCC others(39): Show |
A | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 396 | 0.0025 | -46 | c.215 others(63): Show |
MRPS23 | ENSG00000181610.13 | transcript | ENST00000313608.13 | protein_coding | 2/4 | chr17 | TogoVar | ||||||
| MRPS5_chr2_95080369_95126808 | 95122952 | ATCCAAAG others(39): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(115): Show | 205 | 290 | 0.7069 | -46 | c.-12 others(57): Show |
MRPS5 | ENSG00000144029.14 | transcript | ENST00000272418.7 | protein_coding | 1145 | chr2 | TogoVar | ||||||
| MS4A14_chr11_60391459_60422756 | 60418989 | ATATATAT others(39): Show |
A | downstream_gene_variant | MODIFIER | HG03195.hp1 | a0007 | a0007c0025 | a0007c0025t0002 | a0007c0025t0002g0153 | 1 | 428 | 0.0023 | -46 | c.*19 others(57): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 1234 | chr11 | TogoVar | ||||||
| MSH3_chr5_80649652_80881815 | 80691841 | ATGTATAT others(39): Show |
A | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 | 1 | 362 | 0.0028 | -46 | c.134 others(67): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MSLN_chr16_755734_773862 | 770636 | CGGGTGAG others(39): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02257.hp2 others(8): Show |
a0001a0002a0010 | a0001c0001a0002c0015a0002c0034others(1): Show | a0001c0001t0001a0002c0015t0003a0002c0034t0003others(2): Show | a0001c0001t0001g0222a0001c0001t0001g0223a0001c0001t0001g0348others(8): Show | 11 | 388 | 0.0284 | -46 | c.*19 others(57): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 1775 | chr16 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 770662 | GGGGAGCC others(39): Show |
G | downstream_gene_variant | MODIFIER | HG04184.hp1 | a0009 | a0009c0031 | a0009c0031t0002 | a0009c0031t0002g0353 | 1 | 388 | 0.0026 | -46 | c.*19 others(57): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 1801 | chr16 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 770681 | CGGGGTGA others(39): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01106.hp2 HG02109.hp2 others(7): Show |
a0003a0017a0018 | a0003c0004a0017c0023a0018c0027 | a0003c0004t0003a0017c0023t0001a0018c0027t0003 | a0003c0004t0003g0015a0003c0004t0003g0016a0003c0004t0003g0271others(6): Show | 10 | 388 | 0.0258 | -46 | c.*19 others(57): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 1820 | chr16 | TogoVar | ||||||
| MT4_chr16_56560073_56573957 | 56568225 | AAGAAAGA others(39): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG00733.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0075a0001c0001t0001g0078others(19): Show | 23 | 428 | 0.0537 | -46 | c.97+ others(59): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MTA1_chr14_105414827_105475729 | 105414844 | CGGGAGTG others(39): Show |
C | upstream_gene_variant | MODIFIER | NA18943.hp2 NA19054.hp1 NA19054.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0154a0002c0002t0001g0177a0002c0002t0001g0181 | 3 | 304 | 0.0099 | -46 | c.-51 others(57): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 4982 | chr14 | TogoVar | ||||||
| MTG2_chr20_62178028_62208568 | 62204361 | TGTGTGTG others(39): Show |
T | downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 412 | 0.0024 | -46 | c.*32 others(57): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 794 | chr20 | TogoVar | ||||||
| MTSS1_chr8_124545784_124733473 | 124605544 | ACTGCCTC others(39): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02109.hp1 HG02723.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0005a0001c0003t0011a0001c0004t0001others(1): Show | a0001c0001t0005g0187a0001c0003t0011g0036a0001c0004t0001g0263others(1): Show | 4 | 286 | 0.0140 | -46 | c.209 others(65): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
| MTSS1_chr8_124545784_124733473 | 124605565 | TCGCTGCC others(39): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 286 | 0.0035 | -46 | c.209 others(65): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
| MTUS2_chr13_28815339_29510947 | 29389765 | GTATATAC others(39): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0067 | 1 | 92 | 0.0109 | -46 | c.311 others(67): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MYADML2_chr17_81934645_81952233 | 81947314 | AGGGTTGG others(39): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(199): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(101): Show | 202 | 376 | 0.5372 | -46 | c.-48 others(55): Show |
MYADML2 | ENSG00000185105.5 | transcript | ENST00000409745.2 | protein_coding | 82 | chr17 | TogoVar | ||||||
| MYH11_chr16_15698135_15862028 | 15729770 | CAAACTCC others(39): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0059 | a0001c0059t0001 | a0001c0059t0001g0192 | 1 | 297 | 0.0034 | -46 | c.365 others(65): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 27/40 | chr16 | TogoVar | ||||||
| MYH14_chr19_50198622_50315540 | 50292515 | CTGGGGAG others(39): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(78): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0122a0001c0001t0001g0151a0001c0001t0001g0157others(78): Show | 81 | 298 | 0.2718 | -46 | c.525 others(63): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 37/42 | chr19 | TogoVar | ||||||
| MYLK_chr3_123605049_123889332 | 123706723 | CTGGAAAT others(39): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01243.hp1 others(7): Show |
a0007a0011a0012others(3): Show | a0007c0071a0007c0079a0011c0008others(5): Show | a0007c0071t0002a0007c0079t0006a0011c0008t0002others(6): Show | a0007c0071t0002g0049a0007c0079t0006g0040a0011c0008t0002g0030others(7): Show | 10 | 156 | 0.0641 | -46 | c.239 others(64): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 16/33 | chr3 | TogoVar | ||||||
| MYMK_chr9_133509586_133529959 | 133512124 | GTATATGT others(39): Show |
G | downstream_gene_variant | MODIFIER | NA19063.hp2 NA19065.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0138a0001c0001t0001g0188 | 3 | 456 | 0.0066 | -46 | c.*24 others(57): Show |
MYMK | ENSG00000187616.5 | transcript | ENST00000339996.4 | protein_coding | 2461 | chr9 | TogoVar | ||||||
| MYO16_chr13_108624611_109213005 | 108997322 | AAGAAAGA others(39): Show |
A | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 152 | 0.0066 | -46 | c.244 others(65): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MYO18B_chr22_25737188_26036045 | 25849489 | ATATACAC others(39): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0074 | a0074c0129 | a0074c0129t0002 | a0074c0129t0002g0028 | 1 | 228 | 0.0044 | -46 | c.377 others(65): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 20/43 | chr22 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8574549 | TTCTTTCT others(39): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01256.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0123a0001c0001t0001g0142a0001c0001t0001g0159others(13): Show | 16 | 342 | 0.0468 | -46 | c.3+2 others(59): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
| MYO1G_chr7_44957662_44984015 | 44960927 | GGGGCTGA others(39): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01069.hp2 others(51): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0001a0002c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0093others(11): Show | 54 | 378 | 0.1429 | -46 | c.*17 others(57): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1734 | chr7 | TogoVar | ||||||
| MYO1G_chr7_44957662_44984015 | 44961698 | TTGAGGGA others(39): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0037 | 1 | 378 | 0.0027 | -46 | c.*99 others(56): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 963 | chr7 | TogoVar | ||||||
| MYPN_chr10_68104488_68217017 | 68182334 | CACACACA others(39): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG03130.hp1 |
a0001a0006a0013 | a0001c0001a0006c0015a0013c0012 | a0001c0001t0004a0006c0015t0004a0013c0012t0004 | a0001c0001t0004g0201a0006c0015t0004g0219a0013c0012t0004g0221 | 3 | 306 | 0.0098 | -46 | c.270 others(65): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MYRIP_chr3_39804609_40265321 | 40212159 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0006a0001c0014 | a0001c0006t0004a0001c0006t0006a0001c0014t0007 | a0001c0006t0004g0044a0001c0006t0006g0084a0001c0006t0006g0085others(3): Show | 6 | 170 | 0.0353 | -46 | c.190 others(65): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 11/16 | chr3 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64235203 | CCCGGGAT others(39): Show |
C | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0033 | 1 | 223 | 0.0045 | -46 | c.289 others(65): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| N4BP2L1_chr13_32395723_32433130 | 32420006 | CCACCCCA others(39): Show |
C | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 2 | 430 | 0.0047 | -46 | c.179 others(63): Show |
N4BP2L1 | ENSG00000139597.18 | transcript | ENST00000380130.7 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
| NAALADL2_chr3_174854334_175815548 | 174882748 | CACACGTG others(39): Show |
C | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 64 | 0.0156 | -46 | c.43+ others(63): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NAALADL2_chr3_174854334_175815548 | 174882773 | ATATATAC others(39): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0005 | a0002c0005t0011 | a0002c0005t0011g0019 | 1 | 64 | 0.0156 | -46 | c.43+ others(63): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NAV3_chr12_77825894_78218010 | 78142691 | ATACATAT others(39): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01257.hp1 HG01515.hp1 others(7): Show |
a0001a0002a0011 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0004a0001c0001t0070a0001c0004t0035others(7): Show | a0001c0001t0004g0038a0001c0001t0070g0172a0001c0004t0035g0066others(7): Show | 10 | 186 | 0.0538 | -46 | c.468 others(65): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 20/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NBAS_chr2_15161916_15566334 | 15355415 | TGCAGAGA others(39): Show |
T | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 224 | 0.0045 | -46 | c.393 others(63): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 33/51 | chr2 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146076238 | GACACACA others(39): Show |
G | intron_variant | MODIFIER | HG02056.hp2 | a0013 | a0013c0172 | a0013c0172t0003 | a0013c0172t0003g0178 | 1 | 283 | 0.0035 | -46 | c.962 others(63): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 77/89 | chr1 | TogoVar | ||||||
| NBPF8_chr1_120410035_120474676 | 120431321 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00735.hp2 others(9): Show |
a0001 | a0001c0002a0001c0010a0001c0011others(1): Show | a0001c0002t0002a0001c0002t0028a0001c0010t0060others(2): Show | a0001c0002t0002g0016a0001c0002t0002g0031a0001c0002t0002g0032others(9): Show | 12 | 292 | 0.0411 | -46 | c.-29 others(65): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NCAPH_chr2_96330766_96382091 | 96332230 | TCTATCAC others(39): Show |
T | upstream_gene_variant | MODIFIER | NA18949.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 356 | 0.0028 | -46 | c.-35 others(57): Show |
NCAPH | ENSG00000121152.10 | transcript | ENST00000240423.9 | protein_coding | 3535 | chr2 | TogoVar | ||||||
| NCBP2L_chrX_107772733_107800829 | 107782280 | TATATAAA others(39): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02258.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093a0001c0002t0002g0094a0001c0002t0002g0095others(2): Show | 5 | 303 | 0.0165 | -46 | c.-73 others(63): Show |
NCBP2L | ENSG00000170935.8 | transcript | ENST00000509000.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| NCK1_chr3_136857208_136956606 | 136953979 | TCAAGACC others(39): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 232 | 0.0043 | -46 | c.*55 others(57): Show |
NCK1 | ENSG00000158092.7 | transcript | ENST00000481752.6 | protein_coding | 2374 | chr3 | TogoVar | ||||||
| NCKAP5_chr2_132666788_133573463 | 132920743 | GTGTATAT others(39): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG00738.hp2 others(9): Show |
a0001a0003a0004others(5): Show | a0001c0015a0003c0004a0004c0003others(6): Show | a0001c0015t0001a0003c0004t0001a0004c0003t0002others(6): Show | a0001c0015t0001g0023a0003c0004t0001g0038a0003c0004t0001g0039others(9): Show | 12 | 70 | 0.1714 | -46 | c.580 others(65): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 8/19 | chr2 | TogoVar | ||||||
| NCSTN_chr1_160338383_160363949 | 160339105 | GCTCATTT others(39): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0239a0001c0002t0001g0065a0001c0002t0001g0214others(2): Show | 6 | 448 | 0.0134 | -46 | c.-42 others(57): Show |
NCSTN | ENSG00000162736.18 | transcript | ENST00000294785.10 | protein_coding | 4277 | chr1 | TogoVar | ||||||
| NDST3_chr4_118029486_118263634 | 118066142 | TTTATATA others(39): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0113 | 1 | 216 | 0.0046 | -46 | c.981 others(65): Show |
NDST3 | ENSG00000164100.9 | transcript | ENST00000296499.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| NDST4_chr4_114822763_115118620 | 114890105 | GAGTAGTT others(39): Show |
G | intron_variant | MODIFIER | HG01975.hp1 HG02280.hp2 HG02886.hp1 others(1): Show |
a0001a0004 | a0001c0003a0001c0009a0004c0016 | a0001c0003t0001a0001c0003t0004a0001c0009t0001others(1): Show | a0001c0003t0001g0152a0001c0003t0004g0190a0001c0009t0001g0096others(1): Show | 4 | 190 | 0.0211 | -46 | c.153 others(67): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 6/13 | chr4 | TogoVar | ||||||
| NDUFAF2_chr5_60940205_61158026 | 61045051 | ATAAAGTA others(39): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01361.hp1 HG01884.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0140a0001c0001t0001g0149a0001c0001t0001g0235others(20): Show | 23 | 266 | 0.0865 | -46 | c.128 others(65): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NDUFS5_chr1_39021350_39039615 | 39024902 | TTATATAT others(39): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00597.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0017others(11): Show | 51 | 438 | 0.1164 | -46 | c.-15 others(57): Show |
NDUFS5 | ENSG00000168653.11 | transcript | ENST00000372969.8 | protein_coding | 1447 | chr1 | TogoVar | ||||||
| NDUFS7_chr19_1378907_1400584 | 1394575 | TGCGGACC others(39): Show |
T | intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 418 | 0.0024 | -46 | c.545 others(61): Show |
NDUFS7 | ENSG00000115286.21 | transcript | ENST00000233627.14 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NEFH_chr22_29475218_29496390 | 29482500 | CTAGGTGG others(39): Show |
C | intron_variant | MODIFIER | NA19089.hp2 | a0017 | a0017c0023 | a0017c0023t0001 | a0017c0023t0001g0104 | 1 | 448 | 0.0022 | -46 | c.884 others(61): Show |
NEFH | ENSG00000100285.10 | transcript | ENST00000310624.7 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
| NEK6_chr9_124252949_124358307 | 124341361 | GGGGCTCA others(39): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113a0001c0001t0008g0120 | 2 | 368 | 0.0054 | -46 | c.717 others(63): Show |
NEK6 | ENSG00000119408.17 | transcript | ENST00000320246.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |