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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMYD3_chr1_245744347_246512279 | 246251632 | G | GCGGACAC others(923): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0060 | 1 | 104 | 0.0096 | 930 | c.531 others(949): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747633 | G | GCACTGGG others(923): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 253 | 0.0040 | 930 | c.189 others(945): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507379 | T | TACGTATA others(923): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0243 | 1 | 361 | 0.0028 | 930 | c.-23 others(947): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TSPAN9_chr12_3072379_3291559 | 3268785 | C | CCTGCAGC others(923): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0019others(1): Show | a0001c0001t0007g0258 a0001c0001t0008g0042 a0001c0001t0019g0098 others(3): Show |
6 | 277 | 0.0217 | 930 | c.64- others(945): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917283 | G | GGAGGCTG others(923): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0005 | a0005c0034 | a0005c0034t0004 | a0005c0034t0004g0211 | 1 | 328 | 0.0030 | 930 | c.218 others(947): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF124_chr1_247149989_247177020 | 247169563 | A | AGGGAAGT others(923): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 387 | 0.0026 | 930 | c.30+ others(945): Show |
ZNF124 | ENSG00000196418.13 | transcript | ENST00000543802.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236756335 | C | CGCTGCCA others(924): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 301 | 0.0033 | 931 | c.215 others(950): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236757030 | T | TGTTAGAA others(924): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0089 a0001c0001t0018g0307 |
2 | 333 | 0.0060 | 931 | c.215 others(948): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(924): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 223 | 0.0045 | 931 | c.*36 others(942): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(924): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 223 | 0.0045 | 931 | c.*36 others(942): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882027 | G | GGGGAGAA others(924): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0154 | 1 | 275 | 0.0036 | 931 | c.303 others(950): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132822265 | G | GTGAGTGC others(924): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0061 | a0061c0049 | a0061c0049t0001 | a0061c0049t0001g0154 | 1 | 134 | 0.0075 | 931 | c.711 others(950): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(924): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0047 | 1 | 69 | 0.0145 | 931 | c.*52 others(942): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586550 | G | GGGGGGAA others(924): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0060 | 1 | 257 | 0.0039 | 931 | c.157 others(948): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
GRID2_chr4_92298966_93779566 | 92649035 | T | TTTCATAA others(924): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0030 | 1 | 31 | 0.0323 | 931 | c.244 others(950): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
GRID2_chr4_92298966_93779566 | 92649035 | T | TTTCATAA others(924): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02698.hp1 NA18950.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0002t0001g0015 |
3 | 33 | 0.0909 | 931 | c.244 others(950): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATATT others(924): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 | 1 | 132 | 0.0076 | 931 | c.94- others(944): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(924): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 132 | 0.0076 | 931 | c.94- others(944): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(924): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 132 | 0.0076 | 931 | c.94- others(944): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(924): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0035 | 1 | 132 | 0.0076 | 931 | c.94- others(944): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
KDM6A_chrX_44868188_45117779 | 45040275 | A | ACCCCCCC others(924): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 13 | 0.0769 | 931 | c.654 others(948): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507259 | G | GGGGTAGA others(924): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0174 | 1 | 219 | 0.0046 | 931 | c.624 others(948): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 858940 | C | CAGTGGTG others(924): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0102 | 1 | 283 | 0.0035 | 931 | c.153 others(950): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(924): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03490.hp2 HG03492.hp2 others(8): Show |
a0001a0005 | a0001c0002a0001c0004a0001c0006others(2): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0005others(3): Show | a0001c0002t0001g0052 a0001c0002t0001g0076 a0001c0002t0001g0077 others(8): Show |
11 | 14 | 0.7857 | 931 | c.515 others(948): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LPP_chr3_188149157_188895671 | 188516629 | T | TAGAAATC others(924): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0018 | 1 | 64 | 0.0156 | 931 | c.307 others(948): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478090 | G | GGGAGGGG others(924): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0121 | 1 | 137 | 0.0073 | 931 | c.525 others(948): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19478121 | G | GGAGGGGA others(924): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0018 | 1 | 12 | 0.0833 | 931 | c.525 others(948): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 112972798 | T | TGGATGGA others(924): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0017 | 1 | 48 | 0.0208 | 931 | c.79+ others(946): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(924): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 8 | 0.1250 | 931 | c.250 others(946): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76305322 | T | TCCATGTG others(924): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0008 | a0008c0003 | a0008c0003t0002 | a0008c0003t0002g0101 | 1 | 164 | 0.0061 | 931 | c.360 others(950): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398731 | A | ACCCCCGC others(924): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 214 | 0.0047 | 931 | c.106 others(948): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(924): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 39 | 0.0256 | 931 | c.115 others(948): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLC2A9_chr4_9821224_10026497 | 9875235 | C | CTCTGTCT others(924): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 311 | 0.0032 | 931 | c.129 others(952): Show |
SLC2A9 | ENSG00000109667.12 | transcript | ENST00000264784.8 | protein_coding | 10/11 | chr4 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(924): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0285 a0001c0001t0037g0287 |
2 | 4 | 0.5000 | 931 | c.597 others(948): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(924): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 206 | 0.0049 | 931 | c.199 others(948): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828693 | G | GAGGGAGA others(924): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0083 a0001c0002t0004g0013 |
2 | 83 | 0.0241 | 931 | c.79+ others(948): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129828693 | G | GAGGGAGA others(924): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0045 | 1 | 82 | 0.0122 | 931 | c.79+ others(948): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370151 | A | ATATGTGT others(924): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0360 | 1 | 424 | 0.0024 | 931 | c.-6- others(946): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(924): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03098.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 a0002c0002t0001g0020 |
2 | 22 | 0.0909 | 931 | c.127 others(948): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876166 | C | CCCCCCTT others(924): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 182 | 0.0055 | 931 | c.-10 others(948): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(925): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0261 |
2 | 202 | 0.0099 | 932 | c.130 others(951): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118420 | G | GTTCCTCC others(925): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0242 | 1 | 235 | 0.0043 | 932 | c.246 others(949): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289679 | C | CTGCTCCG others(925): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 289 | 0.0035 | 932 | c.*38 others(943): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2711 | chr1 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344782 | G | GGGCTGTG others(925): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0014 | 1 | 264 | 0.0038 | 932 | c.62+ others(945): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70495701 | A | ACACACAC others(925): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01081.hp2 HG01934.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0004g0042 others(3): Show |
6 | 76 | 0.0789 | 932 | c.690 others(951): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(925): Show |
downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 223 | 0.0045 | 932 | c.*36 others(943): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(925): Show |
downstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 223 | 0.0045 | 932 | c.*36 others(943): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(925): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0008 | a0008c0005 | a0008c0005t0008 | a0008c0005t0008g0256 | 1 | 194 | 0.0052 | 932 | c.300 others(949): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185711 | C | CATAGGGC others(925): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0309 | 1 | 309 | 0.0032 | 932 | c.300 others(949): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19202402 | C | CCGCCATC others(925): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0174 a0007c0009t0001g0176 |
2 | 325 | 0.0062 | 932 | c.360 others(949): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar |