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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOL10_chr2_10565754_10694975 | 10679557 | CCTTTCTT others(8): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 372 | 0.0027 | -15 | c.211 others(32): Show |
NOL10 | ENSG00000115761.17 | transcript | ENST00000381685.10 | protein_coding | 3/20 | chr2 | TogoVar | |||||||
NOL10_chr2_10565754_10694975 | 10680313 | AAGAGGGA others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00733.hp2 others(93): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 others(93): Show |
96 | 372 | 0.2581 | -15 | c.211 others(32): Show |
NOL10 | ENSG00000115761.17 | transcript | ENST00000381685.10 | protein_coding | 3/20 | chr2 | TogoVar | |||||||
NOL11_chr17_67712936_67749531 | 67723370 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | NA18946.hp1 NA18962.hp2 NA18963.hp2 others(7): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001a0002c0003t0009 | a0001c0002t0001g0014 a0001c0002t0001g0214 a0002c0003t0001g0020 others(3): Show |
10 | 394 | 0.0254 | -15 | c.520 others(30): Show |
NOL11 | ENSG00000130935.10 | transcript | ENST00000253247.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NOL4L_chr20_32438059_32590333 | 32544990 | TAGGCAGT others(8): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0017 | 1 | 196 | 0.0051 | -15 | c.322 others(34): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
NOL4_chr18_33846100_34229913 | 33855812 | CTTCTTCA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0024 others(50): Show |
53 | 168 | 0.3155 | -15 | c.172 others(34): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 10/10 | chr18 | TogoVar | |||||||
NOL4_chr18_33846100_34229913 | 34078579 | GAAGATAA others(8): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0129 | 1 | 168 | 0.0060 | -15 | c.772 others(34): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 5/10 | chr18 | TogoVar | |||||||
NOL4_chr18_33846100_34229913 | 34105920 | CAAGTTCT others(8): Show |
C | intron_variant | MODIFIER | HG04204.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0123 |
2 | 168 | 0.0119 | -15 | c.415 others(30): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
NOL4_chr18_33846100_34229913 | 34110128 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 168 | 0.0060 | -15 | c.415 others(32): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
NOL4_chr18_33846100_34229913 | 34168794 | TAATTTAT others(8): Show |
T | intron_variant | MODIFIER | HG02970.hp1 HG03139.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0142 a0001c0001t0001g0153 others(1): Show |
4 | 168 | 0.0238 | -15 | c.265 others(34): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 1/10 | chr18 | TogoVar | |||||||
NOL4_chr18_33846100_34229913 | 34204387 | TTTTAATA others(8): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02129.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0137 a0001c0001t0001g0138 others(14): Show |
17 | 168 | 0.1012 | -15 | c.264 others(34): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 1/10 | chr18 | TogoVar | |||||||
NOL6_chr9_33456353_33478924 | 33475155 | TATATATA others(8): Show |
T | upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0094 | 1 | 438 | 0.0023 | -15 | c.-13 others(26): Show |
NOL6 | ENSG00000165271.17 | transcript | ENST00000297990.9 | protein_coding | 1232 | chr9 | TogoVar | |||||||
NOL6_chr9_33456353_33478924 | 33475157 | TATATATA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02015.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0035 |
6 | 438 | 0.0137 | -15 | c.-13 others(26): Show |
NOL6 | ENSG00000165271.17 | transcript | ENST00000297990.9 | protein_coding | 1234 | chr9 | TogoVar | |||||||
NOL6_chr9_33456353_33478924 | 33475158 | ATATATAT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01358.hp1 others(19): Show |
a0001a0011a0018others(1): Show | a0001c0001a0001c0002a0011c0020others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0003others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0108 others(7): Show |
22 | 438 | 0.0502 | -15 | c.-13 others(26): Show |
NOL6 | ENSG00000165271.17 | transcript | ENST00000297990.9 | protein_coding | 1235 | chr9 | TogoVar | |||||||
NOL6_chr9_33456353_33478924 | 33475160 | ATATATAT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG01070.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0017g0042 |
4 | 438 | 0.0091 | -15 | c.-13 others(26): Show |
NOL6 | ENSG00000165271.17 | transcript | ENST00000297990.9 | protein_coding | 1237 | chr9 | TogoVar | |||||||
NOL6_chr9_33456353_33478924 | 33475168 | ATATATTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 NA18946.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 2 | 438 | 0.0046 | -15 | c.-13 others(26): Show |
NOL6 | ENSG00000165271.17 | transcript | ENST00000297990.9 | protein_coding | 1245 | chr9 | TogoVar | |||||||
NOL6_chr9_33456353_33478924 | 33475170 | ATATTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02165.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 a0001c0001t0002g0045 |
2 | 438 | 0.0046 | -15 | c.-13 others(26): Show |
NOL6 | ENSG00000165271.17 | transcript | ENST00000297990.9 | protein_coding | 1247 | chr9 | TogoVar | |||||||
NOL6_chr9_33456353_33478924 | 33475172 | ATTTTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 438 | 0.0023 | -15 | c.-13 others(26): Show |
NOL6 | ENSG00000165271.17 | transcript | ENST00000297990.9 | protein_coding | 1249 | chr9 | TogoVar | |||||||
NOM1_chr7_156944712_156978176 | 156957774 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18997.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0241 | 1 | 426 | 0.0024 | -15 | c.130 others(34): Show |
NOM1 | ENSG00000146909.8 | transcript | ENST00000275820.4 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NOMO2_chr16_18494927_18567097 | 18528987 | AAATACAT others(8): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02683.hp1 HG03688.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(1): Show |
4 | 16 | 0.2500 | -15 | c.180 others(32): Show |
NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | TogoVar | |||||||
NOMO3_chr16_16227528_16299811 | 16265662 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG02451.hp1 HG03130.hp2 others(1): Show |
a0004a0006 | a0004c0004a0006c0008 | a0004c0004t0002a0006c0008t0002 | a0004c0004t0002g0126 a0004c0004t0002g0127 a0006c0008t0002g0083 others(1): Show |
4 | 132 | 0.0303 | -15 | c.180 others(32): Show |
NOMO3 | ENSG00000103226.19 | transcript | ENST00000399336.9 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOP58_chr2_202260763_202308661 | 202264927 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0001a0001c0005t0003 | a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0004t0001g0258 others(2): Show |
5 | 308 | 0.0162 | -15 | c.-10 others(26): Show |
NOP58 | ENSG00000055044.11 | transcript | ENST00000264279.10 | protein_coding | 835 | chr2 | TogoVar | |||||||
NOP58_chr2_202260763_202308661 | 202291968 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 308 | 0.0033 | -15 | c.780 others(30): Show |
NOP58 | ENSG00000055044.11 | transcript | ENST00000264279.10 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162255490 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0003 | 1 | 182 | 0.0055 | -15 | c.178 others(34): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162328992 | TTTGAGAA others(8): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG02451.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0055 a0001c0001t0002g0064 a0001c0001t0002g0066 others(12): Show |
15 | 182 | 0.0824 | -15 | c.345 others(32): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOS1_chr12_117203142_117366626 | 117263575 | CTATTATT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00642.hp1 others(76): Show |
a0001a0006a0009others(3): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0002g0065 others(76): Show |
79 | 294 | 0.2687 | -15 | c.222 others(32): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 13/28 | chr12 | TogoVar | |||||||
NOS1_chr12_117203142_117366626 | 117299635 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG03209.hp1 NA18522.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0147a0001c0009t0031 | a0001c0002t0147g0294 a0001c0009t0031g0112 a0001c0009t0031g0114 |
3 | 294 | 0.0102 | -15 | c.853 others(32): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 3/28 | chr12 | TogoVar | |||||||
NOS1_chr12_117203142_117366626 | 117359194 | CCGGGGCC others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00621.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0018a0001c0001t0041a0001c0001t0042others(19): Show | a0001c0001t0018g0026 a0001c0001t0018g0027 a0001c0001t0041g0024 others(24): Show |
27 | 294 | 0.0918 | -15 | c.-42 others(34): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 1/28 | chr12 | TogoVar | |||||||
NOS2_chr17_27751766_27805529 | 27803120 | GAGGAAAG others(8): Show |
G | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01192.hp1 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0002g0250 a0001c0001t0002g0331 a0001c0001t0002g0335 others(24): Show |
29 | 402 | 0.0721 | -15 | c.-28 others(26): Show |
NOS2 | ENSG00000007171.19 | transcript | ENST00000313735.11 | protein_coding | 2592 | chr17 | TogoVar | |||||||
NOS3_chr7_150986017_151019588 | 150986279 | GGGCTCAG others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(318): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0004others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(35): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0014 others(283): Show |
321 | 382 | 0.8403 | -15 | c.-50 others(26): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 4737 | chr7 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136490154 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0014 | a0014c0042 | a0014c0042t0002 | a0014c0042t0002g0037 | 1 | 324 | 0.0031 | -15 | c.*59 others(26): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 4278 | chr9 | TogoVar | |||||||
NOTCH3_chr19_15154038_15205995 | 15184037 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 340 | 0.0029 | -15 | c.256 others(32): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 16/32 | chr19 | TogoVar | |||||||
NOTCH4_chr6_32189843_32229067 | 32223881 | TAGCAGCA others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG02135.hp2 NA19011.hp1 |
a0015 | a0015c0036 | a0015c0036t0001 | a0015c0036t0001g0156 a0015c0036t0001g0157 |
2 | 437 | 0.0046 | -15 | c.33_ others(20): Show |
p.Leu others(11): Show |
NOTCH4 | ENSG00000204301.6 | transcript | ENST00000375023.3 | protein_coding | 1/30 | 186/6745 | 33/6012 | 11/2003 | chr6 | TogoVar | |||
NOVA2_chr19_45928734_45978865 | 45955077 | AGAGCTGA others(8): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0130 | 1 | 402 | 0.0025 | -15 | c.230 others(32): Show |
NOVA2 | ENSG00000104967.8 | transcript | ENST00000263257.6 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
NOVA2_chr19_45928734_45978865 | 45969509 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 402 | 0.0025 | -15 | c.85+ others(30): Show |
NOVA2 | ENSG00000104967.8 | transcript | ENST00000263257.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
NOVA2_chr19_45928734_45978865 | 45973383 | TGCGGCGG others(8): Show |
T | 5_prime_UTR_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0030 | 1 | 402 | 0.0025 | -15 | c.-47 others(22): Show |
NOVA2 | ENSG00000104967.8 | transcript | ENST00000263257.6 | protein_coding | 1/4 | 33 | chr19 | TogoVar | ||||||
NOX4_chr11_89319353_89496375 | 89418422 | GAATAATA others(8): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02717.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0017a0001c0001t0031a0001c0001t0048others(5): Show | a0001c0001t0017g0160 a0001c0001t0031g0176 a0001c0001t0031g0177 others(7): Show |
10 | 288 | 0.0347 | -15 | c.629 others(32): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 8/17 | chr11 | TogoVar | |||||||
NOXO1_chr16_1973917_1986469 | 1980862 | ATGGGAGG others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00741.hp2 others(45): Show |
a0001a0002a0010 | a0001c0001a0002c0003a0010c0018 | a0001c0001t0002a0002c0003t0001a0002c0003t0005others(1): Show | a0001c0001t0002g0033 a0002c0003t0001g0004 a0002c0003t0005g0028 others(1): Show |
48 | 442 | 0.1086 | -15 | c.147 others(28): Show |
NOXO1 | ENSG00000196408.12 | transcript | ENST00000356120.9 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
NPAS1_chr19_47014837_47050775 | 47016872 | AAAGAAAG others(8): Show |
A | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0351 | 1 | 418 | 0.0024 | -15 | c.-31 others(26): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 2964 | chr19 | TogoVar | |||||||
NPAS1_chr19_47014837_47050775 | 47033975 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0395 | 1 | 418 | 0.0024 | -15 | c.522 others(32): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NPAS2_chr2_100815139_101001829 | 100850024 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG03209.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 a0001c0002t0001g0067 |
2 | 288 | 0.0069 | -15 | c.-23 others(34): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NPAS2_chr2_100815139_101001829 | 100912241 | TTTATTTA others(8): Show |
T | intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0211 | 1 | 288 | 0.0035 | -15 | c.32+ others(30): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33083178 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0030 | a0001c0001t0019g0073 a0001c0001t0030g0029 |
2 | 92 | 0.0217 | -15 | c.140 others(34): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33177071 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0002 | a0002c0002t0031 | a0002c0002t0031g0077 | 1 | 92 | 0.0109 | -15 | c.141 others(34): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33776521 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020 | 1 | 92 | 0.0109 | -15 | c.104 others(34): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPBWR2_chr20_64098802_64112565 | 64105640 | TGGTGGAT others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0105 | 1 | 355 | 0.0028 | -15 | c.*17 others(24): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 175 | chr20 | TogoVar | ||||||
NPEPPS_chr17_47526108_47628276 | 47594591 | TTTATGTT others(8): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(37): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0029 a0001c0001t0002g0041 a0001c0001t0002g0093 others(37): Show |
40 | 342 | 0.1170 | -15 | c.142 others(34): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NPFFR2_chr4_72027000_72153305 | 72095959 | GTGTTTTA others(8): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00741.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0217 a0001c0001t0001g0226 others(2): Show |
6 | 344 | 0.0174 | -15 | c.-7- others(32): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NPHP3_chr3_132675609_132727409 | 132709272 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0034 | 2 | 342 | 0.0059 | -15 | c.111 others(34): Show |
NPHP3 | ENSG00000113971.21 | transcript | ENST00000337331.10 | protein_coding | 6/26 | chr3 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5868941 | CATGCACA others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0078 |
2 | 208 | 0.0096 | -15 | c.331 others(34): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5877525 | AGCAATTC others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02451.hp1 others(2): Show |
a0001a0010a0014 | a0001c0003a0010c0030a0014c0022 | a0001c0003t0002a0010c0030t0001a0014c0022t0005 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(2): Show |
5 | 208 | 0.0240 | -15 | c.261 others(32): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | TogoVar |