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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHN1_chr2_174793809_175010381 | 174955196 | ATATAATT others(16): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0028a0001c0001t0001g0036a0001c0001t0001g0037others(144): Show | 147 | 276 | 0.5326 | -23 | c.20- others(38): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29273358 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0207 | 1 | 232 | 0.0043 | -23 | c.49+ others(40): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29482797 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG03195.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0007 | a0001c0001t0012g0170a0001c0002t0007g0152 | 2 | 232 | 0.0086 | -23 | c.654 others(40): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18248687 | TTATATAC others(16): Show |
T | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 402 | 0.0025 | -23 | c.79+ others(38): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHRM2_chr7_136863652_137025213 | 136867631 | AGAGATAT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0122 | 1 | 320 | 0.0031 | -23 | c.-16 others(34): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 1020 | chr7 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136913570 | TACCTAAT others(16): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0135 | 1 | 320 | 0.0031 | -23 | c.-12 others(44): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM2_chr7_136863652_137025213 | 136930898 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02818.hp1 HG02886.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0312a0001c0001t0004g0256a0001c0001t0005g0042others(7): Show | 11 | 320 | 0.0344 | -23 | c.-12 others(44): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239402989 | AATTTACG others(16): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 116 | 0.0086 | -23 | c.-52 others(44): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRNA10_chr11_3660587_3676384 | 3663053 | CTCATCTC others(16): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 450 | 0.0022 | -23 | c.*30 others(34): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2533 | chr11 | TogoVar | ||||||
CHRNB4_chr15_78619111_78646210 | 78632228 | TCTCTCTC others(16): Show |
T | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0065 | 1 | 416 | 0.0024 | -23 | c.205 others(38): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2406433 | TGGGGTGG others(16): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(245): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0009others(10): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(218): Show | a0001c0001t0004g0002a0001c0001t0004g0006a0001c0001t0005g0002others(241): Show | 248 | 344 | 0.7209 | -23 | c.-78 others(40): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757383 | AAAAGAAG others(16): Show |
A | intron_variant | MODIFIER | HG02040.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149a0001c0001t0001g0251 | 2 | 254 | 0.0079 | -23 | c.131 others(42): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 129958503 | TTTTTGTA others(16): Show |
T | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 276 | 0.0036 | -23 | c.108 others(44): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130020441 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG03130.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0007 | a0001c0001t0017a0002c0003t0005a0002c0007t0009 | a0001c0001t0017g0123a0002c0003t0005g0124a0002c0003t0005g0126others(2): Show | 5 | 276 | 0.0181 | -23 | c.108 others(46): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130020443 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0127 | 1 | 276 | 0.0036 | -23 | c.108 others(46): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CIPC_chr14_77093258_77122287 | 77094983 | CAGGGTCC others(16): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01884.hp2 HG02074.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(1): Show | a0001c0001t0004g0005a0001c0001t0004g0011a0001c0001t0004g0116others(5): Show | 30 | 426 | 0.0704 | -23 | c.-34 others(34): Show |
CIPC | ENSG00000198894.8 | transcript | ENST00000361786.7 | protein_coding | 3274 | chr14 | TogoVar | ||||||
CISH_chr3_50601489_50616774 | 50602062 | ACACACAC others(16): Show |
A | downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | -23 | c.*55 others(34): Show |
CISH | ENSG00000114737.16 | transcript | ENST00000348721.4 | protein_coding | 4426 | chr3 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119737306 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG01934.hp2 others(14): Show |
a0001a0008a0010 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0100a0001c0001t0002g0095others(14): Show | 17 | 236 | 0.0720 | -23 | c.295 others(42): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | TogoVar | ||||||
CKMT1A_chr15_43688859_43704222 | 43691018 | AAAAAGAA others(16): Show |
A | upstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 392 | 0.0026 | -23 | c.-30 others(34): Show |
CKMT1A | ENSG00000223572.10 | transcript | ENST00000413453.7 | protein_coding | 2840 | chr15 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121557335 | CAGCACTT others(16): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0167 | 1 | 214 | 0.0047 | -23 | c.196 others(42): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
CLEC16A_chr16_10939564_11187186 | 11186533 | TCTGCAGT others(16): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0025 | a0001c0002t0001g0053a0001c0002t0025g0084 | 2 | 274 | 0.0073 | -23 | c.*78 others(34): Show |
CLEC16A | ENSG00000038532.17 | transcript | ENST00000409790.6 | protein_coding | 4348 | chr16 | TogoVar | ||||||
CLEC20A_chr1_178474240_178501964 | 178499487 | CAGGCAGA others(16): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01192.hp2 others(33): Show |
a0001a0002a0012 | a0001c0001a0001c0016a0002c0002others(1): Show | a0001c0001t0001a0001c0016t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0022others(20): Show | 36 | 314 | 0.1147 | -23 | c.-25 others(34): Show |
CLEC20A | ENSG00000188585.10 | transcript | ENST00000623247.3 | protein_coding | 2524 | chr1 | TogoVar | ||||||
CLEC2D_chr12_9664713_9704553 | 9667964 | AGATTAGT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02280.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0004 | a0001c0001t0006a0001c0001t0015a0003c0003t0061others(1): Show | a0001c0001t0006g0111a0001c0001t0015g0110a0003c0003t0061g0034others(4): Show | 8 | 388 | 0.0206 | -23 | c.-17 others(34): Show |
CLEC2D | ENSG00000069493.15 | transcript | ENST00000290855.11 | protein_coding | 1748 | chr12 | TogoVar | ||||||
CLEC4F_chr2_70803643_70825599 | 70813488 | CTTTCTTT others(16): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0155 | 1 | 414 | 0.0024 | -23 | c.138 others(40): Show |
CLEC4F | ENSG00000152672.8 | transcript | ENST00000272367.7 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CLHC1_chr2_55167547_55237293 | 55217545 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0001 | a0002c0001t0012 | a0002c0001t0012g0155 | 1 | 404 | 0.0025 | -23 | c.365 others(38): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
CLHC1_chr2_55167547_55237293 | 55217547 | AAAAAAAT others(16): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0372 | 1 | 404 | 0.0025 | -23 | c.365 others(38): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
CLIC4_chr1_24740447_24849321 | 24766473 | GTTTTTTT others(16): Show |
G | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 344 | 0.0029 | -23 | c.72+ others(40): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLIP1_chr12_122266469_122427669 | 122387568 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01993.hp2 HG02486.hp2 |
a0002 | a0002c0002a0002c0014 | a0002c0002t0001a0002c0014t0001 | a0002c0002t0001g0121a0002c0002t0001g0151a0002c0014t0001g0107 | 3 | 234 | 0.0128 | -23 | c.-10 others(42): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122387570 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03942.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0017a0002c0002t0002g0145 | 2 | 234 | 0.0086 | -23 | c.-10 others(42): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
CLK2_chr1_155257868_155278504 | 155258317 | CCTTTTTT others(16): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 331 | 0.0030 | -23 | c.*48 others(34): Show |
CLK2 | ENSG00000176444.19 | transcript | ENST00000368361.9 | protein_coding | 4550 | chr1 | TogoVar | ||||||
CLK2_chr1_155257868_155278504 | 155258318 | CTTTTTTT others(16): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(172): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(55): Show | 175 | 331 | 0.5287 | -23 | c.*48 others(34): Show |
CLK2 | ENSG00000176444.19 | transcript | ENST00000368361.9 | protein_coding | 4549 | chr1 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123119035 | CTCTCTCT others(16): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 254 | 0.0039 | -23 | c.29- others(40): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123150513 | AAGGAAGG others(16): Show |
A | intron_variant | MODIFIER | HG03130.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0029 | a0001c0001t0021g0190a0001c0001t0029g0194 | 2 | 254 | 0.0079 | -23 | c.28+ others(40): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55491520 | AGTATTTT others(16): Show |
A | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0108 | 1 | 338 | 0.0030 | -23 | c.-13 others(42): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 2/22 | chr4 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333229 | GGGGGGAC others(16): Show |
G | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0346 | 1 | 370 | 0.0027 | -23 | c.891 others(40): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1336395 | GGCCACCA others(16): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0303 | 1 | 370 | 0.0027 | -23 | c.679 others(40): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 5/16 | chr5 | TogoVar | ||||||
CLRN3_chr10_127872841_127897941 | 127878489 | ACACATAT others(16): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 456 | 0.0022 | -23 | c.410 others(36): Show |
CLRN3 | ENSG00000180745.5 | transcript | ENST00000368671.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
CLSTN3_chr12_7125371_7163945 | 7126513 | GTGTGTGT others(16): Show |
G | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 394 | 0.0025 | -23 | c.-41 others(34): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 3857 | chr12 | TogoVar | ||||||
CLTC_chr17_59614895_59701956 | 59617465 | TAGTAGGA others(16): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 260 | 0.0039 | -23 | c.-26 others(34): Show |
CLTC | ENSG00000141367.13 | transcript | ENST00000269122.8 | protein_coding | 2429 | chr17 | TogoVar | ||||||
CLUH_chr17_2684387_2716764 | 2691956 | GCCACGCC others(16): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG02976.hp2 others(2): Show |
a0001a0008 | a0001c0007a0001c0010a0001c0040others(1): Show | a0001c0007t0002a0001c0010t0003a0001c0040t0003others(1): Show | a0001c0007t0002g0331a0001c0010t0003g0320a0001c0010t0003g0323others(2): Show | 5 | 420 | 0.0119 | -23 | c.365 others(38): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 23/25 | chr17 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 591999 | CTCTCTCT others(16): Show |
C | upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 414 | 0.0024 | -23 | c.-52 others(34): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 4988 | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 592016 | TCTCTCTC others(16): Show |
T | upstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 414 | 0.0024 | -23 | c.-52 others(34): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 4971 | chr18 | TogoVar | ||||||
CMAS_chr12_22041218_22070668 | 22041945 | CAAAAAAA others(16): Show |
C | upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 450 | 0.0022 | -23 | c.-43 others(34): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4272 | chr12 | TogoVar | ||||||
CMBL_chr5_10272595_10312902 | 10281881 | CAGGCGTG others(16): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02055.hp1 HG02145.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0009a0001c0002t0012others(5): Show | a0001c0002t0006g0205a0001c0002t0006g0210a0001c0002t0006g0211others(13): Show | 18 | 350 | 0.0514 | -23 | c.558 others(38): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 5/5 | chr5 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965199 | AAACATAT others(16): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp2 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0051 | a0001c0001t0025g0208a0001c0001t0051g0216 | 2 | 408 | 0.0049 | -23 | c.*10 others(36): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1248 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965223 | ATATATAT others(16): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02976.hp2 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0030a0002c0002t0031 | a0002c0002t0030g0053a0002c0002t0030g0054a0002c0002t0031g0306 | 3 | 408 | 0.0074 | -23 | c.*10 others(36): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1224 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965229 | ATATATAT others(16): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0110 | 1 | 408 | 0.0025 | -23 | c.*10 others(36): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1218 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965231 | ATATATAT others(16): Show |
A | downstream_gene_variant | MODIFIER | HG01346.hp2 HG02622.hp2 NA19077.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0152a0002c0002t0005a0002c0002t0106 | a0001c0001t0152g0191a0002c0002t0005g0028a0002c0002t0106g0171 | 3 | 408 | 0.0074 | -23 | c.*10 others(36): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1216 | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81615281 | GTGTGGTG others(16): Show |
G | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 268 | 0.0037 | -23 | c.427 others(40): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81669307 | CACCTCCT others(16): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(73): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0024others(73): Show | 76 | 268 | 0.2836 | -23 | c.826 others(38): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |