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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NBEAL1_chr2_203009875_203230194 | 203180933 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02559.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003others(1): Show | a0001c0001t0042a0001c0008t0007a0003c0003t0004others(1): Show | a0001c0001t0042g0054 a0001c0008t0007g0055 a0001c0008t0007g0056 others(4): Show |
7 | 38 | 0.1842 | 9 | c.659 others(26): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35006496 | A | ATAAACAT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG02165.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0046 a0001c0001t0004g0035 a0001c0001t0007g0025 others(5): Show |
8 | 120 | 0.0667 | 9 | c.295 others(28): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35476296 | C | CCTGCTGC others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02602.hp2 HG02647.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0025a0003c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(2): Show | a0001c0001t0001g0069 a0001c0001t0003g0071 a0001c0001t0020g0090 others(2): Show |
5 | 15 | 0.3333 | 9 | c.658 others(28): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 41/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35522475 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18960.hp2 NA18979.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0037 a0001c0001t0003g0074 a0001c0001t0004g0035 others(2): Show |
5 | 8 | 0.6250 | 9 | c.658 others(30): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 41/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35539915 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00597.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0002g0060 others(10): Show |
13 | 25 | 0.5200 | 9 | c.658 others(30): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 41/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBL1_chr1_19639311_19663452 | 19642750 | T | TAACAACA others(2): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006 | a0001c0001t0004g0032 a0001c0001t0004g0108 a0001c0001t0004g0110 others(2): Show |
6 | 295 | 0.0203 | 9 | c.-17 others(20): Show |
NBL1 | ENSG00000158747.15 | transcript | ENST00000375136.8 | protein_coding | 1560 | chr1 | TogoVar | |||||||
NBL1_chr1_19639311_19663452 | 19659587 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00642.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0020 others(19): Show |
27 | 218 | 0.1239 | 9 | c.*24 others(20): Show |
NBL1 | ENSG00000158747.15 | transcript | ENST00000375136.8 | protein_coding | 1136 | chr1 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146132913 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG03688.hp1 others(3): Show |
a0001a0027a0075others(1): Show | a0001c0030a0001c0133a0027c0038others(2): Show | a0001c0030t0003a0001c0133t0003a0027c0038t0007others(2): Show | a0001c0030t0003g0207 a0001c0030t0003g0212 a0001c0133t0003g0204 others(3): Show |
6 | 109 | 0.0550 | 9 | c.158 others(26): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 10/89 | chr1 | TogoVar | |||||||
NBPF11_chr1_148097151_148157281 | 148121348 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG01934.hp1 others(24): Show |
a0002 | a0002c0002a0002c0041 | a0002c0002t0002a0002c0002t0040a0002c0002t0041others(1): Show | a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0281 others(22): Show |
27 | 316 | 0.0854 | 9 | c.779 others(24): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 9/23 | chr1 | TogoVar | |||||||
NBPF11_chr1_148097151_148157281 | 148121359 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01070.hp2 others(12): Show |
a0002a0021 | a0002c0002a0021c0037 | a0002c0002t0002a0002c0002t0042a0021c0037t0002 | a0002c0002t0002g0001 a0002c0002t0002g0021 a0002c0002t0002g0298 others(7): Show |
15 | 385 | 0.0390 | 9 | c.779 others(24): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 9/23 | chr1 | TogoVar | |||||||
NBPF12_chr1_146933324_147001198 | 146937651 | G | GAAGGTGT others(2): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(65): Show |
a0001a0002a0005others(9): Show | a0001c0001a0001c0013a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(22): Show | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(64): Show |
68 | 120 | 0.5667 | 9 | c.-21 others(20): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 672 | chr1 | TogoVar | |||||||
NBPF12_chr1_146933324_147001198 | 146954389 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02273.hp2 NA18950.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 others(1): Show |
4 | 24 | 0.1667 | 9 | c.-18 others(28): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146965791 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01928.hp1 others(8): Show |
a0001a0004a0009 | a0001c0001a0004c0003a0009c0009 | a0001c0001t0002a0004c0003t0004a0009c0009t0007 | a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0088 others(8): Show |
11 | 17 | 0.6471 | 9 | c.779 others(24): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146981282 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18939.hp2 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0080 a0001c0001t0002g0105 a0001c0001t0008g0091 |
3 | 98 | 0.0306 | 9 | c.245 others(28): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | TogoVar | |||||||
NBPF12_chr1_146933324_147001198 | 146984940 | T | TACGTATT others(2): Show |
disruptive_inframe_insertion | MODERATE | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
a0002a0015a0024others(1): Show | a0002c0002a0002c0005a0002c0010others(6): Show | a0002c0002t0003a0002c0002t0013a0002c0002t0024others(8): Show | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | 120 | 0.2500 | 9 | c.279 others(18): Show |
p.Leu others(22): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/37 | 4243/7435 | 2805/4374 | 935/1457 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NBPF14_chr1_148526385_148601011 | 148583868 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02145.hp2 HG02451.hp1 others(7): Show |
a0003a0006a0016others(5): Show | a0003c0003a0006c0068a0016c0114others(7): Show | a0003c0003t0001a0006c0068t0001a0016c0114t0001others(7): Show | a0003c0003t0001g0028 a0006c0068t0001g0024 a0016c0114t0001g0018 others(7): Show |
10 | 103 | 0.0971 | 9 | c.158 others(26): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 11/70 | chr1 | TogoVar | |||||||
NBPF15_chr1_144416390_144466669 | 144463598 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 HG01192.hp2 HG01496.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0014a0003c0005others(1): Show | a0001c0002t0001a0002c0014t0013a0003c0005t0003others(1): Show | a0001c0002t0001g0001 a0001c0002t0001g0055 a0001c0002t0001g0057 others(13): Show |
16 | 183 | 0.0874 | 9 | c.-31 others(20): Show |
NBPF15 | ENSG00000266338.7 | transcript | ENST00000581897.7 | protein_coding | 1930 | chr1 | TogoVar | |||||||
NBPF8_chr1_120410035_120474676 | 120454703 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp1 HG02970.hp2 others(10): Show |
a0001a0002 | a0001c0002a0001c0009a0002c0001 | a0001c0002t0001a0001c0002t0009a0001c0002t0022others(5): Show | a0001c0002t0001g0140 a0001c0002t0001g0143 a0001c0002t0001g0148 others(10): Show |
13 | 40 | 0.3250 | 9 | c.158 others(26): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF9_chr1_149047186_149108551 | 149104202 | G | GTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02040.hp2 HG02074.hp1 others(23): Show |
a0002a0006a0009 | a0002c0002a0006c0006a0009c0011 | a0002c0002t0001a0002c0002t0031a0002c0002t0032others(6): Show | a0002c0002t0001g0004 a0002c0002t0001g0169 a0002c0002t0001g0183 others(22): Show |
26 | 258 | 0.1008 | 9 | c.-17 others(20): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 652 | chr1 | TogoVar | |||||||
NCAM1_chr11_112956420_113283436 | 113009317 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG01123.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0003g0182 others(13): Show |
16 | 242 | 0.0661 | 9 | c.52+ others(26): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NCAM1_chr11_112956420_113283436 | 113220602 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01175.hp1 HG02055.hp1 others(5): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0008a0001c0001t0014a0001c0001t0027others(5): Show | a0001c0001t0008g0178 a0001c0001t0014g0179 a0001c0001t0027g0228 others(5): Show |
8 | 68 | 0.1176 | 9 | c.106 others(26): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21425040 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG02523.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(3): Show | a0001c0001t0001g0079 a0002c0002t0001g0036 a0002c0002t0001g0086 others(4): Show |
7 | 67 | 0.1045 | 9 | c.148 others(28): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAPD2_chr12_6489102_6536955 | 6518504 | G | GTTTTTGT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01081.hp2 others(24): Show |
a0001a0009 | a0001c0001a0001c0032a0009c0013 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0277 others(22): Show |
27 | 117 | 0.2308 | 9 | c.158 others(26): Show |
NCAPD2 | ENSG00000010292.13 | transcript | ENST00000315579.10 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NCAPD2_chr12_6489102_6536955 | 6518504 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01069.hp1 others(9): Show |
a0001a0004 | a0001c0001a0001c0031a0004c0005 | a0001c0001t0002a0001c0031t0001a0004c0005t0001 | a0001c0001t0002g0357 a0001c0031t0001g0179 a0004c0005t0001g0021 others(8): Show |
12 | 102 | 0.1176 | 9 | c.158 others(26): Show |
NCAPD2 | ENSG00000010292.13 | transcript | ENST00000315579.10 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158669768 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01168.hp2 HG01256.hp2 others(32): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0224 a0001c0001t0001g0239 a0001c0001t0001g0240 others(32): Show |
35 | 114 | 0.3070 | 9 | c.147 others(28): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG_chr4_17805979_17849865 | 17833485 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG02071.hp1 others(11): Show |
a0003 | a0003c0005 | a0003c0005t0007a0003c0005t0011 | a0003c0005t0007g0008 a0003c0005t0007g0021 a0003c0005t0007g0106 others(5): Show |
14 | 281 | 0.0498 | 9 | c.188 others(26): Show |
NCAPG | ENSG00000109805.10 | transcript | ENST00000251496.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NCBP2_chr3_196930406_196947528 | 196933013 | G | GTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01168.hp2 HG01884.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0011 | a0001c0001t0004g0035 a0001c0001t0008g0010 a0001c0001t0011g0019 others(1): Show |
6 | 172 | 0.0349 | 9 | c.*39 others(20): Show |
NCBP2 | ENSG00000114503.11 | transcript | ENST00000321256.10 | protein_coding | 2392 | chr3 | TogoVar | |||||||
NCCRP1_chr19_39191964_39206884 | 39192703 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(17): Show |
82 | 204 | 0.4020 | 9 | c.-42 others(20): Show |
NCCRP1 | ENSG00000188505.5 | transcript | ENST00000339852.5 | protein_coding | 4260 | chr19 | TogoVar | |||||||
NCEH1_chr3_172625249_172716067 | 172653735 | G | GTTTTTGT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(65): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0178 others(65): Show |
68 | 319 | 0.2132 | 9 | c.139 others(26): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
NCEH1_chr3_172625249_172716067 | 172701449 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01109.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0002g0143 a0001c0001t0002g0161 a0001c0001t0002g0163 others(13): Show |
16 | 157 | 0.1019 | 9 | c.138 others(26): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
NCK1_chr3_136857208_136956606 | 136861488 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(45): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0011a0005c0005t0008 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(45): Show |
48 | 127 | 0.3780 | 9 | c.-88 others(18): Show |
NCK1 | ENSG00000158092.7 | transcript | ENST00000481752.6 | protein_coding | 719 | chr3 | TogoVar | |||||||
NCK1_chr3_136857208_136956606 | 136944111 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0059 others(3): Show |
6 | 69 | 0.0870 | 9 | c.227 others(26): Show |
NCK1 | ENSG00000158092.7 | transcript | ENST00000481752.6 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
NCK2_chr2_105739912_105899272 | 105744865 | T | TCGCCGCC others(2): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA18940.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0002g0171 others(1): Show |
4 | 158 | 0.0253 | 9 | c.-47 others(18): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 46 | chr2 | TogoVar | |||||||
NCK2_chr2_105739912_105899272 | 105865902 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00609.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0029 a0001c0001t0002g0103 others(30): Show |
34 | 244 | 0.1393 | 9 | c.226 others(28): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NCKAP1L_chr12_54492752_54553243 | 54506796 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00733.hp1 HG01167.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0082 others(8): Show |
11 | 35 | 0.3143 | 9 | c.307 others(26): Show |
NCKAP1L | ENSG00000123338.13 | transcript | ENST00000293373.11 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NCKAP1L_chr12_54492752_54553243 | 54506796 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19002.hp1 NA19005.hp2 |
a0001a0003 | a0001c0002a0001c0004a0003c0017 | a0001c0002t0014a0001c0004t0001a0003c0017t0011 | a0001c0002t0014g0311 a0001c0004t0001g0216 a0003c0017t0011g0288 |
3 | 27 | 0.1111 | 9 | c.307 others(26): Show |
NCKAP1L | ENSG00000123338.13 | transcript | ENST00000293373.11 | protein_coding | 3/30 | chr12 | TogoVar | |||||||
NCKAP5L_chr12_49786152_49833413 | 49816495 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02071.hp1 HG02647.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0006 | a0001c0001t0001a0001c0004t0001a0004c0006t0001 | a0001c0001t0001g0258 a0001c0004t0001g0264 a0001c0004t0001g0265 others(3): Show |
7 | 147 | 0.0476 | 9 | c.-98 others(28): Show |
NCKAP5L | ENSG00000167566.17 | transcript | ENST00000335999.7 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
NCKAP5_chr2_132666788_133573463 | 132755854 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01099.hp2 HG02083.hp2 others(5): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0004others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0006others(5): Show | a0001c0001t0001g0037 a0002c0002t0001g0040 a0003c0004t0006g0005 others(5): Show |
8 | 14 | 0.5714 | 9 | c.512 others(30): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 16/19 | chr2 | TogoVar | |||||||
NCKAP5_chr2_132666788_133573463 | 132907603 | A | ATAATCAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00738.hp1 others(36): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0009a0001c0015others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0002g0034 others(36): Show |
39 | 70 | 0.5571 | 9 | c.580 others(28): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 8/19 | chr2 | TogoVar | |||||||
NCKAP5_chr2_132666788_133573463 | 133249998 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG02622.hp1 others(10): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0009a0001c0024others(9): Show | a0001c0001t0004a0001c0009t0003a0001c0024t0001others(10): Show | a0001c0001t0004g0002 a0001c0009t0003g0056 a0001c0024t0001g0013 others(10): Show |
13 | 16 | 0.8125 | 9 | c.144 others(28): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 4/19 | chr2 | TogoVar | |||||||
NCKAP5_chr2_132666788_133573463 | 133388161 | A | ATCTTTGT others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02622.hp1 others(8): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0009a0002c0002others(7): Show | a0001c0001t0002a0001c0009t0003a0002c0002t0001others(8): Show | a0001c0001t0002g0067 a0001c0009t0003g0056 a0002c0002t0001g0030 others(8): Show |
11 | 70 | 0.1571 | 9 | c.70- others(26): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 3/19 | chr2 | TogoVar | |||||||
NCKAP5_chr2_132666788_133573463 | 133450002 | A | ACAAGGCC others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 |
a0003a0006 | a0003c0020a0006c0005 | a0003c0020t0001a0006c0005t0001 | a0003c0020t0001g0024 a0006c0005t0001g0009 |
2 | 70 | 0.0286 | 9 | c.69+ others(26): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 3/19 | chr2 | TogoVar | |||||||
NCKIPSD_chr3_48668844_48690915 | 48687070 | C | CCTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00673.hp1 others(39): Show |
a0001a0007a0009 | a0001c0001a0007c0013a0009c0011 | a0001c0001t0001a0007c0013t0001a0009c0011t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(20): Show |
42 | 62 | 0.6774 | 9 | c.-12 others(20): Show |
NCKIPSD | ENSG00000213672.8 | transcript | ENST00000294129.7 | protein_coding | 1156 | chr3 | TogoVar | |||||||
NCOA1_chr2_24486254_24775702 | 24519652 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02004.hp2 HG02080.hp2 others(28): Show |
a0001a0003a0004 | a0001c0001a0001c0014a0003c0010others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0137 others(28): Show |
31 | 231 | 0.1342 | 9 | c.-39 others(30): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NCOA1_chr2_24486254_24775702 | 24547988 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01169.hp2 HG01257.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0002t0006 | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | 96 | 0.0625 | 9 | c.-39 others(30): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NCOA1_chr2_24486254_24775702 | 24608246 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02015.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0008a0001c0004t0002 | a0001c0001t0004g0184 a0001c0001t0004g0188 a0001c0001t0008g0203 others(1): Show |
4 | 62 | 0.0645 | 9 | c.-17 others(30): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NCOA1_chr2_24486254_24775702 | 24614199 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01071.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0300 a0001c0001t0002g0010 others(7): Show |
10 | 38 | 0.2632 | 9 | c.-17 others(30): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NCOA2_chr8_70104782_70408808 | 70116186 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02257.hp1 NA18947.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0009a0002c0002t0003a0002c0002t0015 | a0001c0003t0009g0072 a0002c0002t0003g0019 a0002c0002t0003g0027 others(4): Show |
7 | 149 | 0.0470 | 9 | c.438 others(28): Show |
NCOA2 | ENSG00000140396.13 | transcript | ENST00000452400.7 | protein_coding | 22/22 | chr8 | TogoVar | |||||||
NCOA2_chr8_70104782_70408808 | 70159242 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02717.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0009a0001c0003t0010a0001c0003t0029others(1): Show | a0001c0003t0009g0073 a0001c0003t0010g0081 a0001c0003t0010g0086 others(3): Show |
6 | 225 | 0.0267 | 9 | c.112 others(26): Show |
NCOA2 | ENSG00000140396.13 | transcript | ENST00000452400.7 | protein_coding | 10/22 | chr8 | TogoVar | |||||||
NCOA2_chr8_70104782_70408808 | 70169890 | A | AATCATCA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00673.hp2 others(21): Show |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0001a0001c0001t0002a0007c0015t0001 | a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 others(21): Show |
24 | 38 | 0.6316 | 9 | c.541 others(24): Show |
NCOA2 | ENSG00000140396.13 | transcript | ENST00000452400.7 | protein_coding | 6/22 | chr8 | TogoVar |