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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MOBP_chr3_39462680_39508027 | 39469154 | ATGTGTGT others(73): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 400 | 0.0025 | -80 | c.-89 others(97): Show |
MOBP | ENSG00000168314.19 | transcript | ENST00000684792.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MROH6_chr8_143561192_143577772 | 143575773 | GGGGAAGG others(73): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG03098.hp2 |
a0001a0004 | a0001c0028a0004c0004 | a0001c0028t0010a0004c0004t0003a0004c0004t0026 | a0001c0028t0010g0124 a0004c0004t0003g0122 a0004c0004t0026g0123 |
3 | 437 | 0.0069 | -80 | c.-31 others(91): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 3002 | chr8 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68892483 | CGCGCGGA others(73): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG02717.hp1 HG03017.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 a0001c0001t0002g0129 |
5 | 395 | 0.0127 | -80 | c.553 others(95): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 6/6 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68892607 | CGGAGGGT others(73): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 2 | 395 | 0.0051 | -80 | c.553 others(95): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 6/6 | chr11 | TogoVar | |||||||
MS4A13_chr11_60510392_60547721 | 60533580 | CAAGTTGG others(73): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(98): Show |
a0002a0003a0005 | a0002c0002a0002c0003a0002c0008others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(5): Show | a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 others(88): Show |
101 | 422 | 0.2393 | -80 | c.402 others(97): Show |
MS4A13 | ENSG00000204979.8 | transcript | ENST00000378186.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29375529 | ATATATAT others(73): Show |
A | intron_variant | MODIFIER | HG02818.hp2 NA19030.hp1 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0003 | a0001c0005t0001g0074 a0001c0005t0003g0018 |
2 | 92 | 0.0217 | -80 | c.311 others(101): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29389791 | GTATATAC others(73): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00621.hp1 others(29): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0047 others(29): Show |
32 | 92 | 0.3478 | -80 | c.311 others(101): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701675 | ATTTTTTT others(73): Show |
A | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 326 | 0.0031 | -80 | c.628 others(97): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1349974 | TGGGAGGA others(73): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0051 | 1 | 338 | 0.0030 | -80 | c.*35 others(91): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2716 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1351086 | AGGAGCGA others(73): Show |
A | downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 338 | 0.0030 | -80 | c.*24 others(91): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1604 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1351281 | CGGGCAGG others(73): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp1 HG03516.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 338 | 0.0089 | -80 | c.*22 others(91): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1409 | chr1 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672217 | ATATATAT others(73): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01515.hp1 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0018 a0002c0002t0002g0122 |
3 | 410 | 0.0073 | -80 | c.-19 others(91): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1876 | chr19 | TogoVar | |||||||
MYL5_chr4_669542_687028 | 681595 | CCGCCGCC others(73): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG02897.hp2 HG03239.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0067 others(1): Show |
5 | 412 | 0.0121 | -80 | c.421 others(95): Show |
MYL5 | ENSG00000215375.7 | transcript | ENST00000400159.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109008490 | ACTATCTA others(73): Show |
A | intron_variant | MODIFIER | HG03486.hp1 NA20300.hp2 |
a0001a0003 | a0001c0045a0003c0060 | a0001c0045t0007a0003c0060t0004 | a0001c0045t0007g0051 a0003c0060t0004g0074 |
2 | 152 | 0.0132 | -80 | c.244 others(97): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109008542 | ACTATCTT others(73): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01071.hp1 others(22): Show |
a0001a0003a0006others(7): Show | a0001c0002a0001c0005a0001c0010others(14): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(18): Show | a0001c0002t0001g0142 a0001c0002t0002g0008 a0001c0002t0002g0090 others(22): Show |
25 | 152 | 0.1645 | -80 | c.244 others(97): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170648994 | AATATATA others(73): Show |
A | intron_variant | MODIFIER | NA18959.hp2 NA19063.hp1 |
a0001a0012 | a0001c0001a0012c0054 | a0001c0001t0014a0012c0054t0003 | a0001c0001t0014g0046 a0012c0054t0003g0031 |
2 | 174 | 0.0115 | -80 | c.373 others(99): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086334 | CCCACTGT others(73): Show |
C | intron_variant | MODIFIER | NA18997.hp1 | a0009 | a0009c0165 | a0009c0165t0003 | a0009c0165t0003g0206 | 1 | 403 | 0.0025 | -80 | c.164 others(98): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2127564 | CCAGGCAG others(73): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02698.hp2 |
a0009a0065 | a0009c0162a0065c0062 | a0009c0162t0002a0065c0062t0002 | a0009c0162t0002g0271 a0065c0062t0002g0175 |
2 | 403 | 0.0050 | -80 | c.369 others(99): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2005928 | GTTCTTTC others(73): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0087 | 1 | 104 | 0.0096 | -80 | c.-15 others(99): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
NAALAD2_chr11_90129663_90197894 | 90154854 | AATATGTA others(73): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG02965.hp1 |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0005 | a0004c0005t0001g0261 a0004c0005t0005g0260 |
2 | 364 | 0.0055 | -80 | c.796 others(97): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAPRT_chr8_143569785_143583330 | 143575773 | GGGGAAGG others(73): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0041 |
3 | 403 | 0.0074 | -80 | c.110 others(96): Show |
NAPRT | ENSG00000147813.16 | transcript | ENST00000449291.7 | protein_coding | 8/12 | chr8 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648617 | GACAACCA others(73): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 a0001c0001t0001g0322 |
2 | 378 | 0.0053 | -80 | c.307 others(99): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCKAP5_chr2_132666788_133573463 | 133526217 | AAGGAAGG others(73): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0009 | 1 | 70 | 0.0143 | -80 | c.-61 others(97): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79473554 | GAGGGAAG others(73): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00609.hp1 others(102): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0008others(19): Show | a0001c0001t0004a0001c0006t0001a0001c0006t0002others(49): Show | a0001c0001t0004g0092 a0001c0006t0001g0244 a0001c0006t0001g0254 others(101): Show |
105 | 322 | 0.3261 | -80 | c.209 others(99): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79474223 | GTAAACCT others(73): Show |
G | intron_variant | MODIFIER | HG03942.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0240 a0001c0001t0006g0105 |
2 | 322 | 0.0062 | -80 | c.209 others(99): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79532183 | ACCCCTCG others(73): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01106.hp1 HG02280.hp2 others(2): Show |
a0001a0003a0013 | a0001c0004a0001c0013a0001c0024others(2): Show | a0001c0004t0002a0001c0013t0025a0001c0024t0002others(2): Show | a0001c0004t0002g0093 a0001c0013t0025g0046 a0001c0024t0002g0023 others(2): Show |
5 | 322 | 0.0155 | -80 | c.*46 others(91): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2861 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79532257 | TCCCCCGC others(73): Show |
T | downstream_gene_variant | MODIFIER | HG01123.hp1 NA20805.hp1 |
a0002a0003 | a0002c0011a0003c0007 | a0002c0011t0002a0003c0007t0002 | a0002c0011t0002g0302 a0003c0007t0002g0025 |
2 | 322 | 0.0062 | -80 | c.*46 others(91): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2935 | chr18 | TogoVar | |||||||
NGB_chr14_77260483_77276206 | 77269723 | TCTCTTCT others(73): Show |
T | intron_variant | MODIFIER | HG02080.hp2 HG02148.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0082 others(1): Show |
9 | 366 | 0.0246 | -80 | c.90- others(93): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 582862 | TGTGAATG others(73): Show |
T | intron_variant | MODIFIER | HG03491.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0020 |
2 | 404 | 0.0050 | -80 | c.34- others(97): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 582919 | ACGCAGGC others(73): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 404 | 0.0025 | -80 | c.34- others(97): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NIPAL2_chr8_98184826_98299235 | 98244285 | AGGTAGTC others(73): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(182): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0046 others(181): Show |
185 | 332 | 0.5572 | -80 | c.376 others(97): Show |
NIPAL2 | ENSG00000104361.10 | transcript | ENST00000430223.7 | protein_coding | 3/10 | chr8 | TogoVar | |||||||
NKAIN2_chr6_123798865_124830640 | 124522922 | TCACGAGG others(73): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 66 | 0.0152 | -80 | c.274 others(101): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55849944 | AATTTCCG others(73): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 |
a0002 | a0002c0002a0002c0009 | a0002c0002t0010a0002c0009t0009 | a0002c0002t0010g0399 a0002c0009t0009g0234 |
2 | 424 | 0.0047 | -80 | c.-65 others(97): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55850552 | TGGCTGCG others(73): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0229 | 1 | 424 | 0.0024 | -80 | c.-65 others(97): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55850607 | TTACGAGG others(73): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0017 | a0002c0017t0020 | a0002c0017t0020g0284 | 1 | 424 | 0.0024 | -80 | c.-65 others(97): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55850687 | GTCCGTGG others(73): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0009 | a0002c0009t0009 | a0002c0009t0009g0234 | 1 | 424 | 0.0024 | -80 | c.-65 others(97): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55850852 | AGGCTGCG others(73): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02015.hp1 NA18952.hp1 others(1): Show |
a0002a0005 | a0002c0002a0005c0020 | a0002c0002t0002a0002c0002t0003a0005c0020t0014 | a0002c0002t0002g0249 a0002c0002t0003g0191 a0002c0002t0003g0209 others(1): Show |
4 | 424 | 0.0094 | -80 | c.-65 others(97): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851132 | AGGCTGCG others(73): Show |
A | intron_variant | MODIFIER | HG03471.hp1 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0002c0003t0012 | a0001c0001t0007g0327 a0002c0003t0012g0231 |
2 | 424 | 0.0047 | -80 | c.-65 others(95): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851189 | CCGAGGCT others(73): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01346.hp2 others(4): Show |
a0002a0005 | a0002c0002a0002c0009a0005c0010 | a0002c0002t0005a0002c0002t0009a0002c0009t0009others(3): Show | a0002c0002t0005g0368 a0002c0002t0009g0236 a0002c0009t0009g0240 others(4): Show |
7 | 424 | 0.0165 | -80 | c.-65 others(95): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851292 | TGGCTGCG others(73): Show |
T | intron_variant | MODIFIER | HG00741.hp1 | a0006 | a0006c0014 | a0006c0014t0002 | a0006c0014t0002g0386 | 1 | 424 | 0.0024 | -80 | c.-65 others(95): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851427 | TTACGAGG others(73): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0399 | 1 | 424 | 0.0024 | -80 | c.-65 others(95): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55993476 | CCTCCCTC others(73): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0005 | a0005c0005 | a0005c0005t0007 | a0005c0005t0007g0016 | 1 | 350 | 0.0029 | -80 | c.*55 others(91): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4848 | chr19 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132149972 | CACACCAC others(73): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0211 |
2 | 294 | 0.0068 | -80 | c.902 others(96): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
NPTN_chr15_73555014_73638389 | 73572522 | CCCTTGGG others(73): Show |
C | intron_variant | MODIFIER | NA18960.hp2 NA19007.hp2 NA19075.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0066 |
4 | 342 | 0.0117 | -80 | c.840 others(97): Show |
NPTN | ENSG00000156642.17 | transcript | ENST00000345330.9 | protein_coding | 5/8 | chr15 | TogoVar | |||||||
NTN1_chr17_9016510_9249000 | 9226437 | CGGTCTCG others(73): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(187): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(187): Show |
190 | 258 | 0.7364 | -80 | c.148 others(99): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107204841 | ATTATTTA others(73): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0264 | 1 | 280 | 0.0036 | -80 | c.-92 others(97): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | |||||||
ODF3L2_chr19_458361_479983 | 461050 | GCCCTCCC others(73): Show |
G | downstream_gene_variant | MODIFIER | HG04199.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0158 | 1 | 324 | 0.0031 | -80 | c.*27 others(91): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 2310 | chr19 | TogoVar | |||||||
ODF3L2_chr19_458361_479983 | 468804 | CGCCCTCC others(73): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(123): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0012a0001c0015others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0012t0001others(8): Show | a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0025 others(47): Show |
126 | 324 | 0.3889 | -80 | c.236 others(97): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133015375 | GGAAGGAA others(73): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 68 | 0.0147 | -80 | c.62- others(97): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OR6C70_chr12_55464200_55475138 | 55472499 | TAAAAAAA others(73): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 442 | 0.0023 | -80 | c.-24 others(91): Show |
OR6C70 | ENSG00000184954.4 | transcript | ENST00000327335.4 | protein_coding | 2362 | chr12 | TogoVar |