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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0005g0187 a0001c0003t0011g0036 a0001c0004t0001g0263 others(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 |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0060 | a0001c0060t0001 | a0001c0060t0001g0192 | 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(7): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0122 a0001c0001t0001g0151 a0001c0001t0001g0157 others(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 |
a0005a0011a0012others(3): Show | a0005c0071a0005c0080a0011c0008others(5): Show | a0005c0071t0002a0005c0080t0006a0011c0008t0002others(6): Show | a0005c0071t0002g0049 a0005c0080t0006g0040 a0011c0008t0002g0030 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0137 a0001c0001t0001g0189 |
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 | a0052 | a0052c0130 | a0052c0130t0002 | a0052c0130t0002g0028 | 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 |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0123 a0001c0001t0001g0142 a0001c0001t0001g0159 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0093 others(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 | a0001c0001t0004g0201 a0006c0015t0004g0219 a0013c0012t0004g0221 |
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 | a0001c0006t0004g0044 a0001c0006t0006g0084 a0001c0006t0006g0085 others(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 | a0003 | a0003c0005 | a0003c0005t0011 | a0003c0005t0011g0019 | 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 |
a0001a0003a0006 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0004a0001c0001t0070a0001c0004t0035others(7): Show | a0001c0001t0004g0038 a0001c0001t0070g0172 a0001c0004t0035g0066 others(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 | a0035 | a0035c0040 | a0035c0040t0001 | a0035c0040t0001g0071 | 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 | a0004 | a0004c0171 | a0004c0171t0003 | a0004c0171t0003g0177 | 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 | a0001c0002a0001c0009a0001c0011others(1): Show | a0001c0002t0002a0001c0002t0028a0001c0009t0060others(2): Show | a0001c0002t0002g0016 a0001c0002t0002g0031 a0001c0002t0002g0032 others(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 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0121 | 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 | a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 others(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 | a0001c0015t0001g0023 a0003c0004t0001g0038 a0003c0004t0001g0039 others(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 | a0001c0001t0001g0239 a0001c0002t0001g0065 a0001c0002t0001g0214 others(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 |
a0001a0005 | a0001c0003a0001c0009a0005c0016 | a0001c0003t0001a0001c0003t0004a0001c0009t0001others(1): Show | a0001c0003t0001g0152 a0001c0003t0004g0190 a0001c0009t0001g0096 others(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 | a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0235 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0017 others(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 | a0019 | a0019c0025 | a0019c0025t0001 | a0019c0025t0001g0104 | 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 | a0001c0001t0008g0113 a0001c0001t0008g0120 |
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 | ||||||
NEK6_chr9_124252949_124358307 | 124341423 | AGGTGACA others(39): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(245): Show |
261 | 368 | 0.7092 | -46 | c.717 others(63): Show |
NEK6 | ENSG00000119408.17 | transcript | ENST00000320246.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NELL1_chr11_20664586_21580686 | 20863322 | TTCTCCAC others(39): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG03130.hp2 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0006t0001 | a0001c0005t0001g0025 a0001c0006t0001g0039 |
2 | 88 | 0.0227 | -46 | c.506 others(65): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 4/19 | chr11 | TogoVar | |||||||
NF1_chr17_31089977_31382675 | 31127125 | AGACTCTC others(39): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0128 | 1 | 252 | 0.0040 | -46 | c.61- others(63): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 1/57 | chr17 | TogoVar | |||||||
NFASC_chr1_204823652_205027822 | 204877022 | ATATATAA others(39): Show |
A | intron_variant | MODIFIER | HG01123.hp2 NA18950.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0043a0002c0003t0037 | a0001c0001t0043g0028 a0002c0003t0037g0068 |
2 | 226 | 0.0089 | -46 | c.-19 others(67): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFASC_chr1_204865862_205027822 | 204877022 | ATATATAA others(39): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0171 | 1 | 264 | 0.0038 | -46 | c.-91 others(63): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000539706.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79488252 | GTGTGTGT others(39): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0289 | 1 | 322 | 0.0031 | -46 | c.278 others(65): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61200010 | GTATATAT others(39): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG02976.hp2 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0018a0001c0002t0055 | a0001c0002t0018g0112 a0001c0002t0018g0116 a0001c0002t0055g0117 |
3 | 156 | 0.0192 | -46 | c.560 others(65): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8647749 | ACACACAC others(39): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0061 | 1 | 366 | 0.0027 | -46 | c.-16 others(67): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NHERF2_chr16_2021902_2044026 | 2037004 | AGGGTGGG others(39): Show |
A | splice_region_variant others(1): Show |
LOW | NA19006.hp2 | a0011 | a0011c0016 | a0011c0016t0019 | a0011c0016t0019g0241 | 1 | 422 | 0.0024 | -46 | c.792 others(58): Show |
NHERF2 | ENSG00000065054.14 | transcript | ENST00000424542.7 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 585474 | AGGAAGGG others(39): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0160 a0001c0001t0002g0128 |
2 | 404 | 0.0050 | -46 | c.34- others(63): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NIPA2_chr15_22833666_22873384 | 22838585 | CCCCGGGG others(39): Show |
C | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0269 | 1 | 432 | 0.0023 | -46 | c.-68 others(55): Show |
NIPA2 | ENSG00000140157.16 | transcript | ENST00000337451.8 | protein_coding | 80 | chr15 | TogoVar | |||||||
NKAIN2_chr6_123798865_124830640 | 123976330 | CATATATA others(39): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 66 | 0.0152 | -46 | c.54+ others(65): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NKX1-1_chr4_1397932_1411442 | 1397952 | CGGGCATC others(39): Show |
C | downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 382 | 0.0026 | -46 | c.*49 others(57): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4979 | chr4 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1397960 | TGGATGTG others(39): Show |
T | downstream_gene_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 382 | 0.0026 | -46 | c.*49 others(57): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4971 | chr4 | TogoVar | |||||||
NLRP4_chr19_55831540_55886855 | 55884726 | CTATCTAT others(39): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0003 | a0002c0003t0029 | a0002c0003t0029g0364 | 1 | 424 | 0.0024 | -46 | c.*31 others(57): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 2872 | chr19 | TogoVar |