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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LNPEP_chr5_96931080_97042513 | 96989313 | TTATATAT others(92): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(205): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0012others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(54): Show | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0001g0200others(200): Show | 208 | 352 | 0.5909 | -99 | c.113 others(118): Show |
LNPEP | ENSG00000113441.16 | transcript | ENST00000231368.10 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
LOC400499_chr16_11367015_11532247 | 11493885 | GGGGCAGT others(92): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(42): Show |
a0008a0009a0010others(34): Show | a0008c0027a0009c0006a0010c0007others(35): Show | a0008c0027t0001a0009c0006t0003a0009c0006t0005others(37): Show | a0008c0027t0001g0105a0008c0027t0001g0132a0009c0006t0003g0104others(42): Show | 45 | 310 | 0.1452 | -99 | c.143 others(115): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | ||||||
LOC400499_chr16_11367015_11532247 | 11493958 | GGGGGGCG others(92): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG01978.hp1 |
a0006a0076 | a0006c0005a0076c0081 | a0006c0005t0003a0076c0081t0004 | a0006c0005t0003g0103a0076c0081t0004g0280 | 2 | 310 | 0.0065 | -99 | c.143 others(116): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | ||||||
LOC400499_chr16_11367015_11532247 | 11493965 | GGGGCAGT others(92): Show |
G | intron_variant | MODIFIER | NA18984.hp1 NA18985.hp2 |
a0030a0170 | a0030c0204a0170c0209 | a0030c0204t0001a0170c0209t0001 | a0030c0204t0001g0261a0170c0209t0001g0126 | 2 | 310 | 0.0065 | -99 | c.143 others(116): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | ||||||
LOC400499_chr16_11367015_11532247 | 11493980 | GGGGCGGG others(92): Show |
G | intron_variant | MODIFIER | HG01516.hp1 | a0009 | a0009c0006 | a0009c0006t0004 | a0009c0006t0004g0109 | 1 | 310 | 0.0032 | -99 | c.143 others(116): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | ||||||
LOC400499_chr16_11367015_11532247 | 11493998 | GGGGGGCG others(92): Show |
G | intron_variant | MODIFIER | NA18955.hp1 | a0171 | a0171c0211 | a0171c0211t0004 | a0171c0211t0004g0192 | 1 | 310 | 0.0032 | -99 | c.143 others(116): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | ||||||
LRBA_chr4_150259435_151020284 | 150658509 | CCCTCTCC others(92): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 180 | 0.0056 | -99 | c.592 others(120): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | ||||||
LRP2_chr2_169122109_169367534 | 169327855 | AGCCAGCC others(92): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03704.hp2 |
a0001a0003 | a0001c0009a0003c0043 | a0001c0009t0001a0003c0043t0018 | a0001c0009t0001g0161a0003c0043t0018g0150 | 2 | 250 | 0.0080 | -99 | c.80- others(114): Show |
LRP2 | ENSG00000081479.15 | transcript | ENST00000649046.1 | protein_coding | 1/78 | chr2 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132335476 | GGGGGGGG others(92): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | 290 | 0.0069 | -99 | c.210 others(116): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LYPD8_chr1_248734415_248760759 | 248746877 | CCAGCACC others(92): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0140a0001c0001t0001g0251a0001c0001t0002g0045 | 3 | 374 | 0.0080 | -99 | c.337 others(116): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248746929 | GCCCGCAC others(92): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 374 | 0.0027 | -99 | c.337 others(116): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1827403 | AGGTGTGG others(92): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 264 | 0.0038 | -99 | c.199 others(120): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1827478 | GGCCTCCC others(92): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 264 | 0.0038 | -99 | c.199 others(120): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1827479 | GCCTCCCC others(92): Show |
G | intron_variant | MODIFIER | NA18612.hp1 NA18975.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028a0002c0002t0001g0058 | 2 | 264 | 0.0076 | -99 | c.199 others(120): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1827531 | TCCCGGGT others(92): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(68): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(7): Show | a0001c0001t0001g0081a0001c0001t0001g0085a0001c0001t0001g0091others(68): Show | 71 | 264 | 0.2689 | -99 | c.199 others(120): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1827564 | TCCCGGGT others(92): Show |
T | intron_variant | MODIFIER | NA18985.hp2 NA19012.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198a0001c0001t0001g0199a0001c0001t0001g0200 | 3 | 264 | 0.0114 | -99 | c.199 others(120): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19237574 | ATAATTAT others(92): Show |
A | intron_variant | MODIFIER | NA19088.hp2 | a0021 | a0021c0011 | a0021c0011t0001 | a0021c0011t0001g0102 | 1 | 152 | 0.0066 | -99 | c.299 others(120): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCC_chr5_113017106_113493453 | 113106109 | GTTCACTA others(92): Show |
G | intron_variant | MODIFIER | HG03041.hp1 NA18522.hp1 |
a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0110a0001c0009t0008g0111 | 2 | 160 | 0.0125 | -99 | c.102 others(118): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 6/18 | chr5 | TogoVar | ||||||
MFGE8_chr15_88893683_88918379 | 88909773 | AGCACCCC others(92): Show |
A | stop_gained others(4): Show |
HIGH | HG01934.hp2 | a0012 | a0012c0016 | a0012c0016t0002 | a0012c0016t0002g0217 | 1 | 436 | 0.0023 | -99 | c.125 others(109): Show |
p.Ser others(17): Show |
MFGE8 | ENSG00000140545.16 | transcript | ENST00000268150.13 | protein_coding | 2/8 | 125/1164 | 42/387 | chr15 | TogoVar | |||
MLXIP_chr12_122073756_122152344 | 122124309 | CCCCTCCT others(92): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0276 | 1 | 354 | 0.0028 | -99 | c.414 others(116): Show |
MLXIP | ENSG00000175727.15 | transcript | ENST00000319080.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MLXIP_chr12_122073756_122152344 | 122124331 | CCCTCAGC others(92): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0007 | a0004c0007t0034 | a0004c0007t0034g0336 | 1 | 354 | 0.0028 | -99 | c.414 others(116): Show |
MLXIP | ENSG00000175727.15 | transcript | ENST00000319080.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43495753 | AGATGGTG others(92): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024a0001c0001t0002g0063 | 2 | 250 | 0.0080 | -99 | c.633 others(116): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43496662 | AGGTAGTG others(92): Show |
A | intron_variant | MODIFIER | HG02129.hp2 NA18995.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0002 | a0001c0002t0001g0104a0001c0004t0002g0132 | 2 | 250 | 0.0080 | -99 | c.633 others(116): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43500046 | ATGGGGGT others(92): Show |
A | intron_variant | MODIFIER | HG03654.hp2 NA20752.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0016 | a0001c0002t0002g0100a0001c0002t0016g0101 | 2 | 250 | 0.0080 | -99 | c.748 others(116): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MTSS1_chr8_124545784_124733473 | 124717411 | TCTTGAAC others(92): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02451.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0028a0001c0001t0002g0013others(6): Show | 9 | 286 | 0.0315 | -99 | c.72+ others(116): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108873628 | GGCCAACC others(92): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02109.hp2 HG02523.hp2 others(15): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0008a0001c0010others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(12): Show | a0001c0002t0001g0012a0001c0002t0001g0045a0001c0002t0002g0101others(15): Show | 18 | 152 | 0.1184 | -99 | c.142 others(118): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO1H_chr12_109342900_109453379 | 109357697 | ATTTTTTT others(92): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0040 | 1 | 312 | 0.0032 | -99 | c.12+ others(114): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170649163 | TATATAAT others(92): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0119 | 1 | 174 | 0.0058 | -99 | c.373 others(118): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYT1L_chr2_1784113_2336275 | 1834885 | TGGGGATG others(92): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02717.hp2 others(4): Show |
a0001a0002 | a0001c0013a0001c0016a0001c0017others(2): Show | a0001c0013t0001a0001c0013t0019a0001c0016t0002others(3): Show | a0001c0013t0001g0038a0001c0013t0019g0065a0001c0016t0002g0016others(4): Show | 7 | 104 | 0.0673 | -99 | c.308 others(118): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 21/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1835001 | ACTCCTCC others(92): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02818.hp1 others(10): Show |
a0001 | a0001c0005a0001c0008a0001c0009others(2): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0005others(8): Show | a0001c0005t0001g0086a0001c0005t0002g0076a0001c0005t0002g0099others(10): Show | 13 | 104 | 0.1250 | -99 | c.308 others(118): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 21/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2185474 | TGTGAGGG others(92): Show |
T | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0021 | 1 | 104 | 0.0096 | -99 | c.-42 others(120): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2185591 | AGGCCTTC others(92): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 104 | 0.0096 | -99 | c.-42 others(120): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2185933 | TGTGAGGC others(92): Show |
T | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0061 | 1 | 104 | 0.0096 | -99 | c.-42 others(120): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | ||||||
NBAS_chr2_15161916_15566334 | 15481512 | CTGGCACC others(92): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01109.hp1 others(15): Show |
a0001a0005a0008others(3): Show | a0001c0001a0005c0006a0005c0051others(5): Show | a0001c0001t0001a0005c0006t0001a0005c0051t0001others(5): Show | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0074others(15): Show | 18 | 224 | 0.0804 | -99 | c.108 others(118): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 12/51 | chr2 | TogoVar | ||||||
NEO1_chr15_73047463_73310205 | 73125801 | GGACTGAC others(92): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0131a0001c0001t0019g0125 | 2 | 324 | 0.0062 | -99 | c.725 others(114): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NEU4_chr2_241804193_241822413 | 241805903 | TCCCCCCT others(92): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01168.hp2 HG01346.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0163others(4): Show | 7 | 319 | 0.0219 | -99 | c.-33 others(110): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3289 | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241805941 | CTCCCCCC others(92): Show |
C | upstream_gene_variant | MODIFIER | HG02735.hp1 HG03139.hp2 HG04228.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0003g0188a0001c0002t0001g0004others(1): Show | 4 | 319 | 0.0125 | -99 | c.-33 others(110): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3251 | chr2 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79525017 | CTACCCCT others(92): Show |
C | intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0249 | 1 | 322 | 0.0031 | -99 | c.278 others(118): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NFATC1_chr18_79390930_79534323 | 79525259 | TCCTCCCC others(92): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(123): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0005others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0195a0001c0001t0001g0201a0001c0001t0001g0218others(123): Show | 126 | 322 | 0.3913 | -99 | c.278 others(118): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NFATC1_chr18_79390930_79534323 | 79525391 | TCCTCCCC others(92): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(51): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(42): Show | a0001c0001t0001g0006a0001c0001t0004g0092a0001c0001t0006g0104others(51): Show | 54 | 322 | 0.1677 | -99 | c.278 others(118): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NGEF_chr2_232873701_233018256 | 232906118 | TGGGGGTC others(92): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0009 | a0001c0001t0002a0001c0003t0002a0001c0003t0005others(2): Show | a0001c0001t0002g0213a0001c0003t0002g0134a0001c0003t0002g0186others(34): Show | 37 | 362 | 0.1022 | -99 | c.829 others(118): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
NKX2-1_chr14_36511397_36525232 | 36511607 | AAGAGATA others(92): Show |
A | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 | 1 | 426 | 0.0024 | -99 | c.*55 others(110): Show |
NKX2-1 | ENSG00000136352.20 | transcript | ENST00000354822.7 | protein_coding | 4789 | chr14 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132157139 | GCACACAC others(92): Show |
G | downstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0146 | 1 | 294 | 0.0034 | -99 | c.*47 others(110): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 4672 | chr12 | TogoVar | ||||||
NOS3_chr7_150986017_151019588 | 150995978 | CCCCGTCC others(92): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0285 | 1 | 382 | 0.0026 | -99 | c.271 others(114): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPRL3_chr16_80386_143673 | 138399 | TGAGGAGG others(92): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG02055.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0320a0001c0001t0002g0321a0001c0001t0002g0322others(9): Show | 12 | 350 | 0.0343 | -99 | c.-68 others(113): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
NT5C2_chr10_103083038_103198272 | 103129440 | TCAGCCCG others(92): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0320 | 1 | 340 | 0.0029 | -99 | c.175 others(116): Show |
NT5C2 | ENSG00000076685.19 | transcript | ENST00000404739.8 | protein_coding | 4/18 | chr10 | TogoVar | ||||||
ODF3B_chr22_50525426_50537498 | 50537399 | GGAAGACG others(92): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02818.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007a0001c0001t0003g0024 | 3 | 406 | 0.0074 | -99 | c.-50 others(110): Show |
ODF3B | ENSG00000177989.14 | transcript | ENST00000329363.9 | protein_coding | 4902 | chr22 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162882000 | GGCACTCT others(92): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG03139.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0023a0001c0001t0002g0086a0001c0001t0003g0105others(1): Show | 4 | 130 | 0.0308 | -99 | c.291 others(118): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163300910 | ATGAGTTT others(92): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00741.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0021a0001c0001t0001g0030a0001c0001t0001g0032others(23): Show | 26 | 130 | 0.2000 | -99 | c.614 others(118): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163300998 | CGCTGCTT others(92): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028a0001c0001t0003g0120 | 2 | 130 | 0.0154 | -99 | c.614 others(118): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |