| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| YBEY_chr21_46281342_46302751 | 46293008 | AACTCTAG others(659): Show |
A | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 404 | 0.0025 | -666 | c.339 others(17): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| ZFP57_chr6_29667483_29686152 | 29682642 | CAGGCGTG others(659): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013a0001c0001t0004g0019a0001c0001t0004g0046others(9): Show | 26 | 435 | 0.0598 | -666 | c.-26 others(11): Show |
ZFP57 | ENSG00000204644.10 | transcript | ENST00000376883.2 | protein_coding | 1491 | chr6 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 420756 | ACTTCTGT others(658): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02895.hp2 others(3): Show |
a0005a0007 | a0005c0005a0007c0007 | a0005c0005t0005a0007c0007t0005 | a0005c0005t0005g0334a0005c0005t0005g0412a0005c0005t0005g0420others(3): Show | 6 | 432 | 0.0139 | -665 | c.413 others(17): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805563 | CCCCTCAG others(658): Show |
C | downstream_gene_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0159 | 1 | 314 | 0.0032 | -665 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1277 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805563 | CCCCTCAG others(658): Show |
C | upstream_gene_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0013 | 1 | 319 | 0.0031 | -665 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3629 | chr2 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686384 | CCTCAGAA others(658): Show |
C | intron_variant | MODIFIER | NA18978.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 | 1 | 362 | 0.0028 | -665 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| RAB31_chr18_9703301_9867551 | 9815355 | TAGATGCT others(658): Show |
T | intron_variant | MODIFIER | HG01952.hp1 HG02080.hp1 HG03669.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0050a0001c0001t0001g0055a0001c0001t0001g0092others(10): Show | 13 | 322 | 0.0404 | -665 | c.380 others(15): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| SLC9A3_chr5_465456_529449 | 486886 | GCACTGAC others(658): Show |
G | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0169 | 1 | 218 | 0.0046 | -665 | c.675 others(16): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129856864 | CTGCCCTT others(658): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 94 | 0.0106 | -665 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| TPO_chr2_1408463_1548673 | 1527995 | CCCAATGT others(658): Show |
C | intron_variant | MODIFIER | HG02040.hp1 NA18962.hp1 |
a0002a0006 | a0002c0002a0006c0013 | a0002c0002t0009a0006c0013t0012 | a0002c0002t0009g0062a0006c0013t0012g0067 | 2 | 130 | 0.0154 | -665 | c.261 others(21): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNN2_chr19_1021608_1044065 | 1034392 | CGGTGTCT others(657): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 2 | 390 | 0.0051 | -664 | c.390 others(17): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| ERBB4_chr2_211370717_212543802 | 212505416 | GAGTGAGT others(657): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG03239.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0016a0001c0001t0005g0015a0001c0001t0008g0013others(1): Show | 4 | 56 | 0.0714 | -664 | c.82+ others(17): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805560 | TCCCCCCT others(657): Show |
T | downstream_gene_variant | MODIFIER | HG02523.hp1 HG02630.hp1 NA18957.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0104a0002c0002t0002g0010a0002c0002t0002g0020others(1): Show | 4 | 314 | 0.0127 | -664 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1274 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805560 | TCCCCCCT others(657): Show |
T | upstream_gene_variant | MODIFIER | HG02129.hp2 HG02630.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0017 | 2 | 319 | 0.0063 | -664 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3632 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805598 | CTCCCCCC others(657): Show |
C | upstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0112 | 1 | 319 | 0.0031 | -664 | c.-36 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3594 | chr2 | TogoVar | ||||||
| PSMC1_chr14_90251553_90280429 | 90252905 | AATAAAAT others(657): Show |
A | upstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 | 2 | 390 | 0.0051 | -664 | c.-36 others(11): Show |
PSMC1 | ENSG00000100764.14 | transcript | ENST00000261303.13 | protein_coding | 3647 | chr14 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80315105 | GTGGTAAA others(657): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG02040.hp2 others(11): Show |
a0002a0005a0009others(7): Show | a0002c0002a0002c0010a0002c0121others(9): Show | a0002c0002t0003a0002c0010t0004a0002c0010t0010others(11): Show | a0002c0002t0003g0111a0002c0010t0004g0077a0002c0010t0010g0212others(11): Show | 14 | 292 | 0.0480 | -664 | c.281 others(19): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 287607 | TCTCTCCA others(657): Show |
T | intron_variant | MODIFIER | HG01978.hp1 HG01978.hp2 HG02155.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0045a0001c0001t0004g0039a0001c0001t0004g0087others(2): Show | 5 | 133 | 0.0376 | -664 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1013149 | GAGAGAAG others(657): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp2 others(26): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(11): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058others(26): Show | 29 | 190 | 0.1526 | -664 | c.72+ others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TPO_chr2_1408463_1548673 | 1444704 | GGCAGGCT others(657): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG02015.hp1 HG03239.hp2 others(4): Show |
a0003a0006a0007others(1): Show | a0003c0003a0006c0009a0006c0013others(2): Show | a0003c0003t0005a0006c0009t0003a0006c0009t0006others(4): Show | a0003c0003t0005g0066a0006c0009t0003g0050a0006c0009t0006g0084others(4): Show | 7 | 130 | 0.0539 | -664 | c.482 others(17): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ARHGAP39_chr8_144524179_144690846 | 144624617 | GGTTCACG others(656): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0223a0001c0001t0001g0224a0001c0001t0001g0225others(5): Show | 8 | 246 | 0.0325 | -663 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144624682 | TCACTGCA others(656): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0078 | 1 | 246 | 0.0041 | -663 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ASXL2_chr2_25728753_25883487 | 25863342 | AAATTCTC others(656): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0217 | 1 | 222 | 0.0045 | -663 | c.57+ others(17): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| CAMK1D_chr10_12344547_12840545 | 12775457 | AGGTGAGA others(656): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0040a0001c0001t0005g0189a0001c0001t0009g0072 | 3 | 214 | 0.0140 | -663 | c.565 others(17): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CFAP97D2_chr13_114174257_114228085 | 114198654 | TTTACGGT others(656): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 400 | 0.0025 | -663 | c.172 others(17): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | chr13 | TogoVar | ||||||
| EIF4G3_chr1_20801479_21181897 | 21094102 | AAAAAAAA others(656): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 312 | 0.0032 | -663 | c.-27 others(19): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/36 | chr1 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(656): Show |
A | downstream_gene_variant | MODIFIER | HG01256.hp1 HG01496.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0193a0001c0001t0001g0217 | 3 | 350 | 0.0086 | -663 | c.*25 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2085567 | GCCCCACT others(656): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01168.hp1 HG01952.hp1 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0014others(9): Show | a0001c0002t0001a0001c0003t0001a0001c0014t0001others(9): Show | a0001c0002t0001g0322a0001c0003t0001g0362a0001c0014t0001g0329others(10): Show | 13 | 403 | 0.0323 | -663 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 400807 | CCCCGCCC others(656): Show |
C | intron_variant | MODIFIER | HG06807.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0081 | 2 | 216 | 0.0093 | -663 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| POLE_chr12_132618762_132692342 | 132688195 | CGGGGCGC others(656): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02630.hp1 others(6): Show |
a0001a0006a0008 | a0001c0026a0001c0035a0006c0009others(1): Show | a0001c0026t0002a0001c0035t0011a0006c0009t0002others(1): Show | a0001c0026t0002g0025a0001c0035t0011g0168a0006c0009t0002g0017others(6): Show | 9 | 292 | 0.0308 | -663 | c.-15 others(10): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 854 | chr12 | TogoVar | ||||||
| PXMP2_chr12_132682587_132709985 | 132688195 | CGGGGCGC others(656): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0004a0001c0004t0005 | a0001c0004t0002g0080a0001c0004t0004g0027a0001c0004t0004g0028others(3): Show | 10 | 350 | 0.0286 | -663 | c.122 others(16): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SIGIRR_chr11_400716_419999 | 400807 | CCCCGCCC others(656): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0222 | 2 | 242 | 0.0083 | -663 | c.*44 others(11): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4908 | chr11 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1888039 | GGGTTGTT others(655): Show |
G | intron_variant | MODIFIER | HG00673.hp2 NA19002.hp1 |
a0001 | a0001c0004a0001c0050 | a0001c0004t0002a0001c0050t0006 | a0001c0004t0002g0251a0001c0050t0006g0127 | 2 | 363 | 0.0055 | -662 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1429973 | CGGGGTCT others(655): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0125 | 1 | 360 | 0.0028 | -662 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CHPT1_chr12_101692640_101734074 | 101704514 | GCCTCAGC others(655): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01243.hp1 others(32): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0028others(23): Show | 35 | 402 | 0.0871 | -662 | c.273 others(17): Show |
CHPT1 | ENSG00000111666.11 | transcript | ENST00000229266.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CHPT1_chr12_101692640_101734074 | 101705224 | TGGCTAAT others(655): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(98): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0032a0001c0001t0001g0033others(67): Show | 101 | 402 | 0.2512 | -662 | c.273 others(17): Show |
CHPT1 | ENSG00000111666.11 | transcript | ENST00000229266.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DGKE_chr17_56829151_56874567 | 56873905 | TCCGCCAG others(655): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0006 | 1 | 324 | 0.0031 | -662 | c.*11 others(13): Show |
DGKE | ENSG00000153933.10 | transcript | ENST00000284061.8 | protein_coding | 4339 | chr17 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806988 | ACCCTCCC others(655): Show |
A | downstream_gene_variant | MODIFIER | HG00673.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0221a0001c0001t0002g0198 | 2 | 314 | 0.0064 | -662 | c.*28 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2702 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806988 | ACCCTCCC others(655): Show |
A | upstream_gene_variant | MODIFIER | HG00673.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0010 | 2 | 319 | 0.0063 | -662 | c.-22 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2204 | chr2 | TogoVar | ||||||
| TAF4_chr20_61969798_62070881 | 62057603 | CCAGCAAG others(655): Show |
C | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0023 | 1 | 314 | 0.0032 | -662 | c.136 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| TAF4_chr20_61969798_62070881 | 62057634 | CCTACACA others(655): Show |
C | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 314 | 0.0032 | -662 | c.136 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291461 | GTCCCTCC others(655): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 2 | 284 | 0.0070 | -662 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238044 | CCTCTGCC others(654): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0077 | 1 | 106 | 0.0094 | -661 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| CACNA1C_chr12_2047987_2702950 | 2106683 | GCCACTGG others(654): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0033 | a0001c0033t0020 | a0001c0033t0020g0070 | 1 | 104 | 0.0096 | -661 | c.50- others(15): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CFAP74_chr1_1916957_2008786 | 1934923 | GTAGGTAC others(654): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG02965.hp1 NA20300.hp2 others(1): Show |
a0001a0002a0056 | a0001c0001a0002c0005a0056c0090 | a0001c0001t0001a0002c0005t0002a0056c0090t0002 | a0001c0001t0001g0050a0002c0005t0002g0083a0002c0005t0002g0136others(1): Show | 4 | 278 | 0.0144 | -661 | c.301 others(19): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 25/38 | chr1 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14211597 | TTTTACTC others(654): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0093 | 1 | 148 | 0.0068 | -661 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| FAM20A_chr17_68530116_68606367 | 68545966 | GAGACCAT others(654): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 380 | 0.0026 | -661 | c.720 others(17): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132223362 | CNNNNNNN others(654): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01106.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(8): Show | a0001c0001t0001g0011a0001c0002t0001g0152a0001c0005t0001g0088others(15): Show | 18 | 183 | 0.0984 | -661 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2085517 | CCCCCACT others(654): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG02572.hp1 HG02615.hp2 others(8): Show |
a0002a0017a0018others(1): Show | a0002c0019a0002c0034a0002c0035others(4): Show | a0002c0019t0001a0002c0034t0001a0002c0035t0001others(4): Show | a0002c0019t0001g0116a0002c0019t0001g0138a0002c0034t0001g0349others(8): Show | 11 | 403 | 0.0273 | -661 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2085528 | GTGATCTC others(654): Show |
G | intron_variant | MODIFIER | NA18987.hp2 | a0010 | a0010c0206 | a0010c0206t0001 | a0010c0206t0001g0154 | 1 | 403 | 0.0025 | -661 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |