| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP6V0C_chr16_2508952_2525218 | 2520576 | CGGGCGGG others(55): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 336 | 0.0030 | -62 | c.*83 others(71): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 359 | chr16 | TogoVar | |||||||
| ATP8B4_chr15_49853238_50124233 | 50072965 | TCTCTCTC others(55): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 254 | 0.0039 | -62 | c.87+ others(77): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
| ATP9B_chr18_79064394_79383283 | 79172148 | ACCTTGCG others(55): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG03139.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0004a0001c0014 | a0001c0001t0001a0001c0004t0001a0001c0014t0006 | a0001c0001t0001g0018a0001c0004t0001g0016a0001c0014t0006g0017 | 3 | 298 | 0.0101 | -62 | c.779 others(79): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79172159 | TGCCTTGG others(55): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0005 | 1 | 298 | 0.0034 | -62 | c.779 others(79): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79172193 | CTAGCCAC others(55): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02132.hp2 HG02698.hp2 others(2): Show |
a0001a0013 | a0001c0001a0001c0004a0013c0023 | a0001c0001t0001a0001c0004t0003a0013c0023t0001 | a0001c0001t0001g0014a0001c0001t0001g0064a0001c0001t0001g0067others(2): Show | 5 | 298 | 0.0168 | -62 | c.779 others(79): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79172521 | CCCTTGCG others(55): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0005 | 1 | 298 | 0.0034 | -62 | c.779 others(79): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79336063 | TGCTCCCC others(55): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0128 | 1 | 298 | 0.0034 | -62 | c.202 others(79): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79336154 | GTGTGCAC others(55): Show |
G | intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0033 | a0002c0033t0002 | a0002c0033t0002g0214 | 1 | 298 | 0.0034 | -62 | c.202 others(79): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79341429 | TGGTTGGA others(55): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0037 | a0001c0037t0003 | a0001c0037t0003g0104 | 1 | 298 | 0.0034 | -62 | c.228 others(79): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79358114 | CCTGGGTC others(55): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(75): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0002others(8): Show | a0001c0001t0002g0079a0001c0003t0002g0135a0001c0003t0002g0149others(75): Show | 78 | 298 | 0.2617 | -62 | c.290 others(81): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(55): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG02451.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0174a0001c0001t0001g0243a0002c0002t0001g0233others(4): Show | 10 | 446 | 0.0224 | -62 | c.287 others(77): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
| B3GNTL1_chr17_82937149_83056770 | 82958818 | GTGGGGGT others(55): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01069.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0167others(6): Show | 9 | 266 | 0.0338 | -62 | c.681 others(79): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | |||||||
| B3GNTL1_chr17_82937149_83056770 | 82976022 | GAGGGCCC others(55): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01361.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0032a0001c0002t0002others(6): Show | a0001c0001t0002g0058a0001c0001t0032g0162a0001c0002t0002g0086others(8): Show | 11 | 266 | 0.0414 | -62 | c.460 others(81): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
| B3GNTL1_chr17_82937149_83056770 | 82976042 | GGACTCCA others(55): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0039 | a0001c0001t0002g0133a0001c0001t0039g0260 | 2 | 266 | 0.0075 | -62 | c.460 others(81): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
| BANP_chr16_87946434_88082316 | 88009812 | ATGTCTCA others(55): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0093a0001c0007t0001g0094a0001c0007t0001g0116others(4): Show | 7 | 352 | 0.0199 | -62 | c.655 others(79): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159325055 | ATATATTA others(55): Show |
A | intron_variant | MODIFIER | HG02040.hp1 NA18949.hp1 NA18960.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0087a0001c0001t0002g0195a0002c0002t0001g0074 | 3 | 216 | 0.0139 | -62 | c.621 others(79): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | |||||||
| BBX_chr3_107517962_107816339 | 107584067 | ATATTATA others(55): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(85): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0018a0001c0001t0001g0072a0001c0001t0001g0093others(85): Show | 88 | 222 | 0.3964 | -62 | c.-84 others(81): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| BCAS1_chr20_53938541_54075594 | 54073074 | GATCAGCT others(55): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0068 | a0001c0001t0039g0358a0001c0001t0068g0359 | 2 | 364 | 0.0055 | -62 | c.-27 others(73): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 2481 | chr20 | TogoVar | |||||||
| BCL9_chr1_147536501_147631216 | 147541131 | AGAGAGAG others(55): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0275 | 1 | 316 | 0.0032 | -62 | c.-10 others(72): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 369 | chr1 | TogoVar | |||||||
| BCOR_chrX_40046251_40102958 | 40046522 | TTATATAT others(55): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG02922.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0003 | a0001c0001t0003g0106a0001c0001t0003g0242a0001c0002t0001g0189others(1): Show | 4 | 257 | 0.0156 | -62 | c.*55 others(73): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4728 | chrX | TogoVar | |||||||
| BDP1_chr5_71450651_71572820 | 71525463 | CGGACGGG others(55): Show |
C | intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0183 | 1 | 325 | 0.0031 | -62 | c.577 others(81): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 25/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| BEND7_chr10_13436088_13534014 | 13471950 | TCACTGTT others(55): Show |
T | intron_variant | MODIFIER | NA18942.hp2 NA18968.hp2 NA18997.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0001 | a0001c0001t0006g0044a0001c0001t0006g0047a0001c0001t0006g0048others(2): Show | 5 | 300 | 0.0167 | -62 | c.106 others(81): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
| BICD1_chr12_32101847_32388633 | 32346554 | ATATATAT others(55): Show |
A | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0212 | 1 | 290 | 0.0035 | -62 | c.276 others(81): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| BICD1_chr12_32101847_32388633 | 32346573 | TATATATA others(55): Show |
T | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0090 | 1 | 290 | 0.0035 | -62 | c.276 others(81): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | chr12 | TogoVar | |||||||
| BMPER_chr7_33900539_34161427 | 34056609 | CAATGCAC others(55): Show |
C | intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0057 | 1 | 232 | 0.0043 | -62 | c.927 others(79): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 9/14 | chr7 | TogoVar | |||||||
| BNIP5_chr6_36310761_36341888 | 36324575 | TTATATAT others(55): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03130.hp1 |
a0002a0018 | a0002c0002a0018c0025 | a0002c0002t0007a0018c0025t0001 | a0002c0002t0007g0048a0018c0025t0001g0329 | 2 | 424 | 0.0047 | -62 | c.116 others(79): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
| BRIP1_chr17_61674139_61868528 | 61787118 | TAATATAT others(55): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02630.hp2 HG02897.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0002c0003t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0006g0210a0002c0003t0003g0257others(5): Show | 8 | 266 | 0.0301 | -62 | c.147 others(81): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 10/19 | chr17 | TogoVar | |||||||
| BRSK2_chr11_1384934_1467689 | 1438027 | ATCCCCCA others(55): Show |
A | intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 | 1 | 360 | 0.0028 | -62 | c.187 others(77): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| BTBD9_chr6_38163451_38644929 | 38166021 | TACCCGCA others(55): Show |
T | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023a0001c0001t0054others(6): Show | a0001c0001t0001g0221a0001c0001t0023g0208a0001c0001t0023g0222others(7): Show | 10 | 224 | 0.0446 | -62 | c.*89 others(73): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 2429 | chr6 | TogoVar | |||||||
| BTBD9_chr6_38163451_38644929 | 38266587 | GGAAAGAA others(55): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0178 | a0001c0001t0178g0071 | 1 | 224 | 0.0045 | -62 | c.145 others(83): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 8/10 | chr6 | TogoVar | |||||||
| C1QB_chr1_22648236_22666637 | 22659292 | AGATGGAT others(55): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 430 | 0.0023 | -62 | c.-23 others(76): Show |
C1QB | ENSG00000173369.18 | transcript | ENST00000509305.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| C2CD3_chr11_74007718_74176002 | 74077771 | GTATATAT others(55): Show |
G | intron_variant | MODIFIER | NA19078.hp2 | a0035 | a0035c0039 | a0035c0039t0001 | a0035c0039t0001g0122 | 1 | 318 | 0.0031 | -62 | c.460 others(79): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 23/32 | chr11 | TogoVar | |||||||
| C2CD3_chr11_74007718_74176002 | 74139959 | GAGGATTG others(55): Show |
G | intron_variant | MODIFIER | HG02129.hp1 HG02132.hp1 NA18950.hp2 others(2): Show |
a0002a0008 | a0002c0003a0008c0007 | a0002c0003t0001a0002c0003t0005a0008c0007t0001 | a0002c0003t0001g0061a0002c0003t0001g0070a0002c0003t0001g0071others(2): Show | 5 | 318 | 0.0157 | -62 | c.484 others(77): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
| C2CD4C_chr19_400445_414147 | 404021 | TGAGGGGT others(55): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01346.hp1 HG01928.hp1 others(8): Show |
a0000a0001a0004 | a0000c0003a0001c0001a0004c0014 | a0000c0003t0005a0001c0001t0005a0001c0001t0017others(4): Show | a0000c0003t0005g0043a0001c0001t0005g0006a0001c0001t0017g0018others(4): Show | 11 | 322 | 0.0342 | -62 | c.*30 others(73): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1423 | chr19 | TogoVar | |||||||
| C2CD4C_chr19_400445_414147 | 404607 | GGGAGACG others(55): Show |
G | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0030 | 1 | 322 | 0.0031 | -62 | c.*24 others(73): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 837 | chr19 | TogoVar | |||||||
| C2CD4C_chr19_400445_414147 | 404964 | GGGAACGG others(55): Show |
G | downstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | -62 | c.*20 others(73): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 480 | chr19 | TogoVar | |||||||
| C5orf34_chr5_43481709_43520148 | 43511332 | CCCGTCCG others(55): Show |
C | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 340 | 0.0029 | -62 | c.-36 others(79): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
| C8A_chr1_56849797_56923223 | 56885417 | TATATATT others(55): Show |
T | intron_variant | MODIFIER | NA18940.hp1 NA18945.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122 | 3 | 366 | 0.0082 | -62 | c.856 others(77): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CAB39L_chr13_49303650_49449064 | 49318483 | AGGGAAAG others(55): Show |
A | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 324 | 0.0031 | -62 | c.835 others(79): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
| CACNB2_chr10_18135424_18548557 | 18316455 | TCTTCCCC others(55): Show |
T | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 200 | 0.0050 | -62 | c.214 others(81): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CACNB2_chr10_18135424_18548557 | 18442938 | ATATGTGT others(55): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG02818.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0051 | a0001c0001t0021g0060a0001c0001t0021g0077a0001c0001t0051g0107 | 3 | 200 | 0.0150 | -62 | c.333 others(81): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CACNB2_chr10_18135424_18548557 | 18442958 | GTATATAT others(55): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0002others(2): Show | a0001c0001t0003g0087a0001c0001t0006g0005a0001c0001t0006g0017others(3): Show | 6 | 200 | 0.0300 | -62 | c.333 others(81): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CACNB2_chr10_18335709_18548557 | 18442938 | ATATGTGT others(55): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0044a0001c0001t0066 | a0001c0001t0015g0019a0001c0001t0015g0020a0001c0001t0044g0018others(1): Show | 4 | 302 | 0.0133 | -62 | c.171 others(81): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CACNB2_chr10_18335709_18548557 | 18442958 | GTATATAT others(55): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0003g0274a0001c0001t0005g0090a0001c0001t0005g0188others(3): Show | 6 | 302 | 0.0199 | -62 | c.171 others(81): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CACNG3_chr16_24251335_24367412 | 24317586 | GAAAGAAA others(55): Show |
G | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 366 | 0.0027 | -62 | c.212 others(81): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CADM2_chr3_84953989_86079429 | 85212824 | TTCTTTCT others(55): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0096 | 1 | 146 | 0.0069 | -62 | c.61+ others(81): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| CALCOCO2_chr17_48826035_48870245 | 48846473 | CAAGAACT others(55): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0054 | 1 | 328 | 0.0031 | -62 | c.181 others(79): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 2/12 | chr17 | TogoVar | |||||||
| CAMKK2_chr12_121232692_121301709 | 121269044 | CGGGGAAA others(55): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 330 | 0.0030 | -62 | c.574 others(77): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 4/16 | chr12 | TogoVar | |||||||
| CAMKK2_chr12_121232692_121301709 | 121301180 | TTTTTTTT others(55): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02257.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0011others(2): Show | a0001c0001t0002a0001c0007t0001a0001c0011t0006others(4): Show | a0001c0001t0002g0266a0001c0001t0002g0267a0001c0001t0002g0268others(8): Show | 11 | 330 | 0.0333 | -62 | c.-46 others(73): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 4472 | chr12 | TogoVar | |||||||
| CAMKMT_chr2_44356947_44777592 | 44409121 | ATATATAT others(55): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 198 | 0.0051 | -62 | c.376 others(81): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |