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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHCHD6_chr3_126699240_126965420 | 126862846 | TCCTCCTC others(11): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02615.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0113 others(2): Show |
5 | 209 | 0.0239 | -18 | c.495 others(37): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126864752 | ACTCCTCC others(11): Show |
A | intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 207 | 0.0048 | -18 | c.495 others(37): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126864841 | ACCATCAT others(11): Show |
A | intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 213 | 0.0047 | -18 | c.495 others(37): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126913207 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0028 a0003c0004t0001g0029 |
2 | 16 | 0.1250 | -18 | c.496 others(35): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCT1_chr17_60417489_60436426 | 60419817 | AATTATTA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01358.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
5 | 68 | 0.0735 | -18 | c.-27 others(29): Show |
CHCT1 | ENSG00000141371.13 | transcript | ENST00000269127.5 | protein_coding | 2671 | chr17 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98883826 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0051 | 1 | 285 | 0.0035 | -18 | c.256 others(35): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98883847 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02723.hp2 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0012a0002c0002t0002 | a0001c0003t0012g0293 a0001c0003t0012g0294 a0002c0002t0002g0001 others(2): Show |
5 | 328 | 0.0152 | -18 | c.256 others(35): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98883849 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0296 | 1 | 325 | 0.0031 | -18 | c.256 others(35): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | |||||||
CHD4_chr12_6565082_6612379 | 6607671 | AACACACA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp2 HG04115.hp2 NA18941.hp1 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0016 | a0001c0002t0002a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0002t0002g0040 a0001c0003t0002g0096 a0001c0003t0003g0018 others(8): Show |
11 | 267 | 0.0412 | -18 | c.-46 others(27): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 293 | chr12 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41498799 | ATGTATGT others(11): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02055.hp2 others(10): Show |
a0001a0009 | a0001c0001a0001c0025a0009c0020 | a0001c0001t0001a0001c0001t0013a0001c0025t0001others(1): Show | a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 others(10): Show |
13 | 319 | 0.0408 | -18 | c.915 others(33): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41498803 | ATGTATGT others(11): Show |
A | intron_variant | MODIFIER | HG01258.hp1 HG01934.hp1 HG02148.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(1): Show | a0001c0001t0001g0223 a0001c0001t0001g0294 a0001c0001t0011g0226 others(4): Show |
7 | 308 | 0.0227 | -18 | c.915 others(33): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41498807 | ATGTATGT others(11): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01070.hp2 others(5): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 others(5): Show |
8 | 162 | 0.0494 | -18 | c.915 others(33): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41585424 | TGGTTGCA others(11): Show |
T | intron_variant | MODIFIER | NA18946.hp2 NA19065.hp1 |
a0008 | a0008c0011 | a0008c0011t0008 | a0008c0011t0008g0006 a0008c0011t0008g0007 |
2 | 322 | 0.0062 | -18 | c.-24 others(37): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21457628 | CAAAAAAA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02886.hp1 HG02897.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0165 a0001c0001t0003g0185 a0002c0002t0001g0180 |
3 | 21 | 0.1429 | -18 | c.-18 others(29): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1506 | chr14 | TogoVar | |||||||
CHD9NB_chr16_53036484_53057897 | 53051768 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(84): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0139 a0001c0001t0002g0003 a0001c0001t0002g0077 others(32): Show |
87 | 148 | 0.5878 | -18 | c.-18 others(35): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CHD9NB_chr16_53036484_53057897 | 53056003 | CCTTTTTT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0006 a0001c0001t0002g0003 a0001c0001t0002g0042 others(18): Show |
30 | 404 | 0.0743 | -18 | c.-34 others(29): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 3107 | chr16 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53051768 | AATATATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00733.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0013others(6): Show | a0001c0001t0001g0153 a0001c0001t0001g0185 a0001c0001t0001g0188 others(37): Show |
40 | 72 | 0.5556 | -18 | c.-34 others(29): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3222 | chr16 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53056003 | CCTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0003g0016 others(17): Show |
20 | 236 | 0.0847 | -18 | c.-16 others(35): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | chr16 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53070516 | CCTTCCTT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0033 others(120): Show |
123 | 236 | 0.5212 | -18 | c.-16 others(39): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53171861 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG03831.hp2 NA19066.hp1 others(1): Show |
a0002 | a0002c0002a0002c0019 | a0002c0002t0001a0002c0019t0001 | a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0205 others(1): Show |
4 | 174 | 0.0230 | -18 | c.145 others(39): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28728290 | TAAAAAGA others(11): Show |
T | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 382 | 0.0026 | -18 | c.320 others(35): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
CHERP_chr19_16512894_16547437 | 16522777 | GACTCGAG others(11): Show |
G | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 328 | 0.0030 | -18 | c.198 others(35): Show |
CHERP | ENSG00000085872.15 | transcript | ENST00000546361.7 | protein_coding | 11/16 | chr19 | TogoVar | |||||||
CHFR_chr12_132827356_132892605 | 132866577 | TGTTACAA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(96): Show |
a0002a0004a0006 | a0002c0002a0002c0007a0002c0011others(3): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(36): Show | a0002c0002t0002g0012 a0002c0002t0002g0051 a0002c0002t0002g0052 others(90): Show |
99 | 369 | 0.2683 | -18 | c.583 others(35): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 6/17 | chr12 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5918810 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 2 | 27 | 0.0741 | -18 | c.190 others(35): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5926084 | TATATATA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG02273.hp1 HG02523.hp1 others(10): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023 others(4): Show |
13 | 417 | 0.0312 | -18 | c.*10 others(29): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 732 | chr20 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 252361 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp2 HG03195.hp2 others(1): Show |
a0004a0005a0012 | a0004c0004a0005c0006a0012c0011 | a0004c0004t0001a0005c0006t0001a0012c0011t0050 | a0004c0004t0001g0044 a0004c0004t0001g0045 a0005c0006t0001g0043 others(1): Show |
4 | 45 | 0.0889 | -18 | c.-95 others(35): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 314323 | CTATGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG02970.hp1 |
a0002a0003a0007 | a0002c0002a0003c0003a0007c0008 | a0002c0002t0004a0003c0003t0004a0007c0008t0020 | a0002c0002t0004g0010 a0003c0003t0004g0009 a0007c0008t0020g0038 |
3 | 251 | 0.0120 | -18 | c.-94 others(35): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 314327 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0222 | 1 | 282 | 0.0035 | -18 | c.-94 others(35): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHMP5_chr9_33260049_33287070 | 33264394 | AGGGTCAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0035 |
2 | 326 | 0.0061 | -18 | c.-68 others(27): Show |
CHMP5 | ENSG00000086065.14 | transcript | ENST00000223500.9 | protein_coding | 654 | chr9 | TogoVar | |||||||
CHMP7_chr8_23238637_23266999 | 23250620 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | NA18963.hp2 NA19000.hp2 NA19070.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0032 | a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 others(1): Show |
4 | 35 | 0.1143 | -18 | c.471 others(35): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86021126 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 41 | 0.0244 | -18 | c.116 others(35): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 86026102 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG04199.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002 | a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0002t0002g0073 |
3 | 16 | 0.1875 | -18 | c.116 others(35): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | |||||||
CHN1_chr2_174793809_175010381 | 174807446 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01891.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(15): Show |
18 | 43 | 0.4186 | -18 | c.110 others(37): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29273343 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0011 a0001c0002t0002g0118 |
2 | 180 | 0.0111 | -18 | c.49+ others(35): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689061 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(44): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(7): Show | a0001c0002t0003g0001 a0001c0002t0003g0006 a0001c0002t0003g0020 others(43): Show |
47 | 164 | 0.2866 | -18 | c.779 others(33): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110689072 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02602.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0036 |
2 | 62 | 0.0323 | -18 | c.779 others(33): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110689817 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG02040.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0064 |
3 | 164 | 0.0183 | -18 | c.779 others(35): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110689879 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01099.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(2): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 others(10): Show |
13 | 160 | 0.0813 | -18 | c.779 others(35): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110697814 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02886.hp2 HG02922.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0027a0001c0002t0004a0001c0002t0007others(1): Show | a0001c0001t0027g0005 a0001c0002t0004g0045 a0001c0002t0007g0025 others(1): Show |
4 | 23 | 0.1739 | -18 | c.609 others(35): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 7/11 | chrX | TogoVar | |||||||
CHRDL2_chr11_74691429_74736426 | 74719381 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0055 | 1 | 89 | 0.0112 | -18 | c.83- others(31): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
CHRM1_chr11_62903679_62926363 | 62916320 | GAGGCAAG others(11): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 418 | 0.0024 | -18 | c.-79 others(35): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
CHRM1_chr11_62903679_62926363 | 62924662 | CTCTCTCT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0075 | 1 | 401 | 0.0025 | -18 | c.-35 others(29): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3300 | chr11 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239385936 | AGTGTGTG others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp2 HG02615.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0015a0001c0001t0056 | a0001c0001t0013g0085 a0001c0001t0015g0095 a0001c0001t0056g0084 |
3 | 15 | 0.2000 | -18 | c.-18 others(29): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 631 | chr1 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239404392 | GAAAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0087 | 1 | 113 | 0.0088 | -18 | c.-52 others(39): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239766672 | TATATAGA others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01261.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0005a0001c0001t0014a0001c0001t0018others(2): Show | a0001c0001t0005g0077 a0001c0001t0014g0063 a0001c0001t0018g0042 others(2): Show |
5 | 40 | 0.1250 | -18 | c.-14 others(39): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239874285 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0005 | a0001c0005t0047 | a0001c0005t0047g0081 | 1 | 53 | 0.0189 | -18 | c.-19 others(37): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM5_chr15_33963497_34072458 | 33994798 | CTACTCTT others(11): Show |
C | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 336 | 0.0030 | -18 | c.-40 others(39): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRM5_chr15_33963497_34072458 | 34048022 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(105): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(100): Show |
108 | 229 | 0.4716 | -18 | c.-76 others(35): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA10_chr11_3660587_3676384 | 3663076 | ATCATCTC others(11): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0046 | 1 | 370 | 0.0027 | -18 | c.*30 others(29): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2510 | chr11 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63351131 | ATCCACGC others(11): Show |
A | intron_variant | MODIFIER | HG01258.hp2 HG01981.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(2): Show | a0001c0001t0001g0111 a0001c0001t0006g0134 a0001c0002t0001g0081 others(4): Show |
7 | 166 | 0.0422 | -18 | c.384 others(33): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar |