| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP8B4_chr15_49853238_50124233 | 50085877 | TTATATAT others(45): Show |
T | intron_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195 | 1 | 254 | 0.0039 | -52 | c.29- others(69): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79327596 | CCCTCCGT others(45): Show |
C | intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0163 | 1 | 298 | 0.0034 | -52 | c.177 others(71): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | chr18 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79367197 | GTGTGTAT others(45): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0197 | 1 | 298 | 0.0034 | -52 | c.301 others(71): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATPAF1_chr1_46627737_46673364 | 46651586 | CAATGGTT others(45): Show |
C | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 412 | 0.0024 | -52 | c.588 others(67): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 6/8 | chr1 | TogoVar | ||||||
| AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(45): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01496.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0004t0001a0002c0002t0001others(3): Show | a0001c0001t0002g0063a0001c0001t0002g0142a0001c0004t0001g0192others(6): Show | 10 | 446 | 0.0224 | -52 | c.287 others(67): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83032243 | CGGGTCAG others(45): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0011a0001c0006t0018 | a0001c0006t0001g0016a0001c0006t0001g0017a0001c0006t0011g0018others(1): Show | 4 | 266 | 0.0150 | -52 | c.297 others(69): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
| B4GALNT4_chr11_364499_387117 | 366062 | ACGCCGGT others(45): Show |
A | upstream_gene_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 | 1 | 184 | 0.0054 | -52 | c.-37 others(63): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 3436 | chr11 | TogoVar | ||||||
| BATF2_chr11_64982945_65001971 | 64983525 | TATTTTAT others(45): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02896.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010 | 9 | 404 | 0.0223 | -52 | c.*55 others(63): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4419 | chr11 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159325038 | ATATATTA others(45): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(8): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0007a0002c0028others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0007t0002others(4): Show | a0002c0002t0001g0018a0002c0002t0001g0083a0002c0002t0001g0093others(8): Show | 11 | 216 | 0.0509 | -52 | c.621 others(68): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60472999 | AAGCATTT others(45): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00738.hp2 others(10): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0036a0001c0001t0002g0128a0001c0001t0003g0149others(10): Show | 13 | 262 | 0.0496 | -52 | c.386 others(69): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
| BCL6_chr3_187716381_187750468 | 187718049 | GTGGCTAT others(45): Show |
G | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 404 | 0.0025 | -52 | c.*43 others(63): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 3331 | chr3 | TogoVar | ||||||
| BCOR_chrX_40046251_40102958 | 40046524 | ATATATAT others(45): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0132 | 2 | 257 | 0.0078 | -52 | c.*55 others(63): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4726 | chrX | TogoVar | ||||||
| BDH1_chr3_197504783_197560968 | 197517475 | TTTCCTGC others(45): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00738.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0020others(2): Show | a0001c0001t0001g0277a0001c0001t0012g0005a0001c0001t0012g0028others(4): Show | 8 | 319 | 0.0251 | -52 | c.410 others(69): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
| BEX1_chrX_103057651_103069171 | 103068146 | TAAAATAA others(45): Show |
T | upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 339 | 0.0030 | -52 | c.-41 others(63): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 3976 | chrX | TogoVar | ||||||
| BGN_chrX_153489980_153514546 | 153513808 | TGAGTGTG others(45): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0023a0001c0003t0048a0001c0003t0050others(1): Show | a0001c0003t0023g0050a0001c0003t0023g0195a0001c0003t0048g0067others(2): Show | 5 | 321 | 0.0156 | -52 | c.*53 others(63): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 4263 | chrX | TogoVar | ||||||
| BICD1_chr12_32101847_32388633 | 32253800 | AATCCCAC others(45): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02145.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0004g0019a0001c0001t0004g0166a0001c0001t0006g0034others(14): Show | 17 | 290 | 0.0586 | -52 | c.426 others(71): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32253851 | GTATCCCA others(45): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01106.hp2 HG01175.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0038a0001c0001t0001g0049a0001c0001t0001g0202others(33): Show | 36 | 290 | 0.1241 | -52 | c.426 others(71): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32346564 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp2 HG01981.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0012a0001c0002t0002 | a0001c0001t0010g0103a0001c0001t0010g0143a0001c0001t0010g0158others(3): Show | 6 | 290 | 0.0207 | -52 | c.276 others(71): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BNC2_chr9_16404503_16875670 | 16498244 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(22): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0003a0008c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0053a0001c0001t0001g0125a0001c0001t0001g0141others(22): Show | 25 | 176 | 0.1421 | -52 | c.669 others(71): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
| BOD1L2_chr18_57142087_57155410 | 57150188 | GCCTGAAT others(45): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0000 | 1 | 468 | 0.0021 | -52 | c.*23 others(63): Show |
BOD1L2 | ENSG00000228075.5 | transcript | ENST00000585477.2 | protein_coding | 1/1 | 2358 | chr18 | TogoVar | |||||
| BRF1_chr14_105204286_105306001 | 105214496 | CCTGCATG others(45): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0066a0001c0001t0002g0067 | 3 | 72 | 0.0417 | -52 | c.177 others(71): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 15/17 | chr14 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39217041 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG01516.hp2 HG03225.hp1 |
a0003a0006 | a0003c0004a0006c0009 | a0003c0004t0005a0003c0004t0010a0006c0009t0012 | a0003c0004t0005g0127a0003c0004t0010g0093a0006c0009t0012g0086 | 3 | 338 | 0.0089 | -52 | c.365 others(71): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39217043 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0006 | a0006c0009 | a0006c0009t0012 | a0006c0009t0012g0083 | 1 | 338 | 0.0030 | -52 | c.365 others(71): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
| BSN_chr3_49549477_49676549 | 49562440 | TAAATTAG others(45): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0018 | a0018c0031 | a0018c0031t0002 | a0018c0031t0002g0091 | 1 | 186 | 0.0054 | -52 | c.224 others(69): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BTBD19_chr1_44803523_44820585 | 44816543 | TATATACA others(45): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01515.hp1 HG01517.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0017 | a0001c0001t0002g0004a0001c0001t0007g0049a0001c0001t0017g0012others(1): Show | 4 | 436 | 0.0092 | -52 | c.*27 others(63): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 959 | chr1 | TogoVar | ||||||
| BYSL_chr6_41916499_41938046 | 41930970 | CGTGATGA others(45): Show |
C | intron_variant | MODIFIER | HG02056.hp1 NA18943.hp2 NA19085.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033a0002c0002t0001g0071 | 3 | 464 | 0.0065 | -52 | c.704 others(67): Show |
BYSL | ENSG00000112578.10 | transcript | ENST00000230340.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BZW2_chr7_16641181_16711517 | 16710619 | AAGGAAGG others(45): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0282 | 1 | 418 | 0.0024 | -52 | c.*45 others(63): Show |
BZW2 | ENSG00000136261.16 | transcript | ENST00000258761.8 | protein_coding | 4103 | chr7 | TogoVar | ||||||
| C10orf71_chr10_49294170_49332492 | 49319689 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0007 | a0007c0041 | a0007c0041t0015 | a0007c0041t0015g0080 | 1 | 424 | 0.0024 | -52 | c.-14 others(71): Show |
C10orf71 | ENSG00000177354.12 | transcript | ENST00000374144.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| C12orf40_chr12_39621183_39726914 | 39713227 | TATACGTG others(45): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01496.hp1 HG02132.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0302a0001c0001t0001g0303others(5): Show | 9 | 360 | 0.0250 | -52 | c.141 others(71): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| C17orf50_chr17_35755887_35770079 | 35769693 | TGGGGGAA others(45): Show |
T | downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 408 | 0.0025 | -52 | c.*50 others(63): Show |
C17orf50 | ENSG00000270806.2 | transcript | ENST00000605587.2 | protein_coding | 4615 | chr17 | TogoVar | ||||||
| C17orf78_chr17_37370985_37397708 | 37375043 | AAATTAGC others(45): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 441 | 0.0023 | -52 | c.-10 others(62): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 941 | chr17 | TogoVar | ||||||
| C1orf146_chr1_92212915_92250813 | 92215796 | CTCCAAGC others(45): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(175): Show |
a0001a0005 | a0001c0001a0005c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(132): Show | 178 | 280 | 0.6357 | -52 | c.-22 others(63): Show |
C1orf146 | ENSG00000203910.9 | transcript | ENST00000370375.8 | protein_coding | 2118 | chr1 | TogoVar | ||||||
| C1orf50_chr1_42762249_42784491 | 42778974 | TCCCCCCC others(45): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0003 | 1 | 418 | 0.0024 | -52 | c.*35 others(63): Show |
C1orf50 | ENSG00000164008.17 | transcript | ENST00000372525.7 | protein_coding | 5/5 | 3581 | chr1 | TogoVar | |||||
| C2CD3_chr11_74007718_74176002 | 74077795 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG02129.hp1 HG02132.hp1 HG02896.hp1 others(4): Show |
a0002a0026 | a0002c0003a0026c0025 | a0002c0003t0001a0002c0003t0005a0026c0025t0001 | a0002c0003t0001g0061a0002c0003t0001g0070a0002c0003t0001g0071others(4): Show | 7 | 318 | 0.0220 | -52 | c.460 others(69): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1115900 | CGCCCACG others(45): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 326 | 0.0031 | -52 | c.129 others(71): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1136341 | CATATAAA others(45): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02257.hp1 others(11): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0007a0001c0001t0008a0001c0001t0014others(2): Show | a0001c0001t0007g0159a0001c0001t0007g0160a0001c0001t0007g0161others(11): Show | 14 | 326 | 0.0429 | -52 | c.-2+ others(65): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| C8orf82_chr8_144520733_144534111 | 144522160 | TGCCGGCC others(45): Show |
T | downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | -52 | c.*51 others(63): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 3572 | chr8 | TogoVar | ||||||
| C9orf24_chr9_34374019_34402810 | 34397306 | ACCTCCTA others(45): Show |
A | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 450 | 0.0022 | -52 | c.135 others(67): Show |
C9orf24 | ENSG00000164972.14 | transcript | ENST00000297623.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| CAB39L_chr13_49303650_49449064 | 49318496 | GGGAAAGG others(45): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG01943.hp1 HG01993.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0064a0001c0001t0001g0110a0001c0001t0001g0112others(23): Show | 26 | 324 | 0.0803 | -52 | c.835 others(69): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
| CAB39L_chr13_49303650_49449064 | 49318502 | GGGAAAGG others(45): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 324 | 0.0031 | -52 | c.835 others(69): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
| CABLES2_chr20_62383634_62412285 | 62406703 | ACCTCTGT others(45): Show |
A | intron_variant | MODIFIER | HG02165.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0218 | 2 | 400 | 0.0050 | -52 | c.362 others(67): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13497507 | AAAAAAAA others(45): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0071 | a0001c0071t0013 | a0001c0071t0013g0138 | 1 | 218 | 0.0046 | -52 | c.293 others(69): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
| CACNA1C_chr12_2047987_2702950 | 2105765 | GGGCGTCC others(45): Show |
G | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0033 | 1 | 104 | 0.0096 | -52 | c.50- others(67): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2106830 | GGGCGTCC others(45): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0102 | 1 | 104 | 0.0096 | -52 | c.50- others(67): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18358501 | TCTCTCTC others(45): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0125 | 1 | 200 | 0.0050 | -52 | c.214 others(71): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18358501 | TCTCTCTC others(45): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 302 | 0.0033 | -52 | c.51+ others(69): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53920920 | TCTGGTCA others(45): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 364 | 0.0028 | -52 | c.424 others(69): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53921702 | CATTGGTG others(45): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02647.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0006g0017 | 3 | 364 | 0.0082 | -52 | c.424 others(69): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53923469 | TCCCAGGT others(45): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0355 | 1 | 364 | 0.0028 | -52 | c.424 others(69): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CALY_chr10_133319072_133341896 | 133320238 | GGACGATA others(45): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 250 | 0.0040 | -52 | c.*53 others(63): Show |
CALY | ENSG00000130643.9 | transcript | ENST00000252939.9 | protein_coding | 3833 | chr10 | TogoVar |