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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP39_chr8_144524179_144690846 | 144625498 | TCACTGCA others(95): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0002t0001g0089 others(2): Show |
5 | 237 | 0.0211 | -102 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144625629 | GGCGGCCC others(95): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG03041.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0001a0001c0002t0001a0001c0018t0001 | a0001c0001t0001g0021 a0001c0001t0001g0231 a0001c0002t0001g0022 others(1): Show |
4 | 169 | 0.0237 | -102 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144626416 | CCACTGCA others(95): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02615.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0222 a0001c0001t0001g0223 others(13): Show |
16 | 238 | 0.0672 | -102 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1954995 | AGGATAGC others(95): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0012 | a0012c0130 | a0012c0130t0061 | a0012c0130t0061g0342 | 1 | 353 | 0.0028 | -102 | c.352 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 28/28 | chr8 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1955047 | TGGGTAGC others(95): Show |
T | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0070 | a0001c0070t0001 | a0001c0070t0001g0165 | 1 | 362 | 0.0028 | -102 | c.352 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1955050 | GTAGCTAG others(95): Show |
G | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0010 | a0001c0010t0009 | a0001c0010t0009g0302 | 1 | 301 | 0.0033 | -102 | c.352 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF7_chr13_111110310_111310732 | 111254380 | GCTCAGAA others(95): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG02257.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0005a0001c0003t0001a0001c0003t0003others(2): Show | a0001c0001t0005g0120 a0001c0003t0001g0136 a0001c0003t0003g0072 others(4): Show |
7 | 272 | 0.0257 | -102 | c.950 others(19): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ARHGEF7_chr13_111110310_111310732 | 111254586 | TCAGAAGA others(95): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00597.hp2 others(44): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0009others(1): Show | a0001c0001t0016a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0016g0137 a0001c0002t0001g0164 a0001c0002t0001g0176 others(44): Show |
47 | 215 | 0.2186 | -102 | c.950 others(19): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ARL16_chr17_81676187_81688797 | 81686734 | CCTGACGG others(95): Show |
C | upstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 442 | 0.0023 | -102 | c.-30 others(11): Show |
ARL16 | ENSG00000214087.9 | transcript | ENST00000622299.5 | protein_coding | 2938 | chr17 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049402 | GGGGAACA others(95): Show |
G | downstream_gene_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0017 | 1 | 304 | 0.0033 | -102 | c.*52 others(11): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2701 | chr8 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219342 | ATATTTGT others(95): Show |
A | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 408 | 0.0025 | -102 | c.670 others(17): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57642184 | TGGTGAGT others(95): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0040 | a0001c0001t0039g0149 a0001c0001t0040g0148 |
2 | 312 | 0.0064 | -102 | c.*62 others(11): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 4241 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57642525 | GAGTTGTT others(95): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(46): Show |
a0001a0005 | a0001c0001a0005c0020 | a0001c0001t0005a0001c0001t0009a0001c0001t0012others(5): Show | a0001c0001t0005g0011 a0001c0001t0005g0013 a0001c0001t0005g0017 others(46): Show |
49 | 309 | 0.1586 | -102 | c.*58 others(11): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 3900 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57642644 | CGGTGGGT others(95): Show |
C | downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0081 | 1 | 312 | 0.0032 | -102 | c.*57 others(11): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 3781 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79225686 | GTTGGGTC others(95): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0258 | 1 | 292 | 0.0034 | -102 | c.110 others(21): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167875981 | ATACACGT others(95): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011 | a0001c0001t0002g0010 a0001c0001t0003g0038 a0001c0001t0011g0009 others(1): Show |
4 | 116 | 0.0345 | -102 | c.*59 others(11): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1937 | chr2 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83052869 | CCCAGGAG others(95): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01071.hp2 HG01074.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0025 | a0001c0001t0001a0001c0001t0002a0002c0005t0003others(1): Show | a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0002g0059 others(11): Show |
14 | 262 | 0.0534 | -102 | c.-12 others(11): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1100 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83055345 | GGTTCCCT others(95): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00673.hp2 others(34): Show |
a0001a0002a0007 | a0001c0002a0001c0003a0001c0008others(4): Show | a0001c0002t0001a0001c0003t0004a0001c0003t0005others(12): Show | a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0130 others(33): Show |
37 | 265 | 0.1396 | -102 | c.-36 others(11): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3576 | chr17 | TogoVar | |||||||
BEGAIN_chr14_100532147_100592417 | 100546339 | ACCCCGGC others(95): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(103): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show |
106 | 124 | 0.8548 | -102 | c.233 others(14): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 3/6 | chr14 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241561418 | AGGGTGGC others(95): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02074.hp2 HG02083.hp1 others(25): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(6): Show | a0001c0001t0001g0164 a0001c0001t0002g0003 a0001c0001t0002g0034 others(12): Show |
28 | 405 | 0.0691 | -102 | c.221 others(15): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BPHL_chr6_3113711_3158578 | 3146179 | GGGGTGGA others(95): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(161): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(107): Show |
164 | 348 | 0.4713 | -102 | c.788 others(17): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105230745 | CGTAGTCG others(95): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0050 others(5): Show |
8 | 70 | 0.1143 | -102 | c.695 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105231500 | CGTGGCAC others(95): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 67 | 0.0149 | -102 | c.695 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105231908 | CGTGGCAC others(95): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 67 | 0.0149 | -102 | c.695 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105231964 | GTCCGCGT others(95): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0050 others(3): Show |
6 | 70 | 0.0857 | -102 | c.695 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105232309 | GCAGCCCT others(95): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 66 | 0.0152 | -102 | c.695 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105234152 | CGTGGCAC others(95): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0071 | 1 | 66 | 0.0152 | -102 | c.695 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105234247 | GCAGCCCT others(95): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0050 |
2 | 65 | 0.0308 | -102 | c.695 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105234553 | GCAGCCCC others(95): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 65 | 0.0154 | -102 | c.695 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105234820 | GTCCGCGT others(95): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0043 a0001c0001t0007g0071 |
2 | 66 | 0.0303 | -102 | c.695 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105235330 | GTCCGCGT others(95): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01891.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0002g0045 others(1): Show |
4 | 68 | 0.0588 | -102 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105235636 | GTCCGCGT others(95): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01891.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0002g0045 others(1): Show |
4 | 70 | 0.0571 | -102 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105235981 | GCAGCCCT others(95): Show |
G | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 66 | 0.0152 | -102 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105237510 | ACAGCCCT others(95): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 23 | 0.0435 | -102 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105237777 | GTCCGCGT others(95): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01361.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0008 | a0001c0001t0004g0008 a0001c0001t0004g0010 a0001c0001t0007g0071 others(1): Show |
4 | 68 | 0.0588 | -102 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105237816 | ACAGCCCT others(95): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 24 | 0.0417 | -102 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105238287 | GTCCGCGT others(95): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0059 |
2 | 66 | 0.0303 | -102 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105238797 | GTCCGCGT others(95): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0001g0050 others(4): Show |
7 | 69 | 0.1014 | -102 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105239550 | ACAGCCCT others(95): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 50 | 0.0200 | -102 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105240264 | GCAGCCCT others(95): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01361.hp2 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0008 a0001c0001t0004g0010 a0001c0001t0008g0070 |
3 | 69 | 0.0435 | -102 | c.694 others(16): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
C11orf21_chr11_2290628_2306918 | 2292050 | GCAGCACC others(95): Show |
G | downstream_gene_variant | MODIFIER | HG01975.hp2 HG02300.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0004 | 2 | 424 | 0.0047 | -102 | c.*57 others(11): Show |
C11orf21 | ENSG00000110665.12 | transcript | ENST00000381153.8 | protein_coding | 3577 | chr11 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1001630 | CGGGTGGG others(95): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 324 | 0.0031 | -102 | c.324 others(17): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1127949 | CCTGTCAC others(95): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01255.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0219 others(11): Show |
14 | 246 | 0.0569 | -102 | c.-1- others(13): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2520708 | ACCAATGG others(95): Show |
A | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 a0001c0002t0001g0022 |
2 | 94 | 0.0213 | -102 | c.139 others(19): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151866822 | CTGCTGGG others(95): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02015.hp2 HG02056.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0020others(1): Show | a0001c0001t0002g0156 a0001c0001t0010g0109 a0001c0001t0010g0114 others(9): Show |
12 | 230 | 0.0522 | -102 | c.758 others(17): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 9/13 | chr2 | TogoVar | |||||||
CACNG8_chr19_53957937_53995215 | 53962670 | TATTAGCG others(95): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0002g0147 a0001c0001t0004g0027 a0001c0001t0004g0171 others(21): Show |
30 | 391 | 0.0767 | -102 | c.-47 others(9): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 266 | chr19 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12776018 | AGGTGAGA others(95): Show |
A | intron_variant | MODIFIER | HG01884.hp2 NA19030.hp1 NA19058.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0008a0001c0002t0025 | a0001c0001t0012g0185 a0001c0002t0008g0108 a0001c0002t0025g0029 |
3 | 214 | 0.0140 | -102 | c.565 others(17): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816769 | CACACGCG others(95): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0356 | 1 | 364 | 0.0027 | -102 | c.645 others(17): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 543024 | GTGGGCGA others(95): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0012 | a0012c0076 | a0012c0076t0003 | a0012c0076t0003g0287 | 1 | 407 | 0.0025 | -102 | c.-22 others(17): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CASP3_chr4_184622696_184654447 | 184652937 | AAGAAGGG others(95): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(136): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0023 others(83): Show |
139 | 363 | 0.3829 | -102 | c.-38 others(11): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 3491 | chr4 | TogoVar |