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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFT140_chr16_1505427_1617072 | 1599452 | G | GCCGTCCG others(920): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0029 | 1 | 334 | 0.0030 | 927 | c.369 others(944): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1599452 | G | GCCGTCCG others(920): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0025 | 1 | 334 | 0.0030 | 927 | c.369 others(944): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1599452 | G | GCCGTCCG others(920): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0016 | 1 | 334 | 0.0030 | 927 | c.369 others(944): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1599504 | G | GTCCGGGA others(920): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0160 | 1 | 334 | 0.0030 | 927 | c.369 others(944): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(920): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 380 | 0.0026 | 927 | c.507 others(944): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(920): Show |
intron_variant | MODIFIER | HG03041.hp2 NA18987.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0049a0004c0004t0001g0132 | 2 | 380 | 0.0053 | 927 | c.507 others(944): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(920): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 380 | 0.0026 | 927 | c.507 others(944): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28189685 | G | GAGGGAGG others(920): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 62 | 0.0161 | 927 | c.-36 others(948): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
LPP_chr3_188149157_188895671 | 188516629 | T | TAGAAATC others(920): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0050 | 1 | 76 | 0.0132 | 927 | c.307 others(944): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364601 | C | CACCCACA others(920): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0008 | a0003c0008t0007 | a0003c0008t0007g0084 | 1 | 290 | 0.0035 | 927 | c.129 others(944): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCTCACC others(920): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0005 | 1 | 278 | 0.0036 | 927 | c.115 others(944): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(920): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 280 | 0.0036 | 927 | c.641 others(942): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446461 | A | AGTGAGAG others(920): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0114 | 1 | 280 | 0.0036 | 927 | c.641 others(942): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4663619 | T | TACACAGC others(920): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 410 | 0.0024 | 927 | c.287 others(944): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(920): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0195 | 1 | 324 | 0.0031 | 927 | c.140 others(944): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ATATATAC others(920): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 439 | 0.0023 | 927 | c.-15 others(938): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(920): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0038 | 1 | 350 | 0.0029 | 927 | c.734 others(944): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811232 | T | TCCCTCCC others(920): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0067 | 1 | 178 | 0.0056 | 927 | c.773 others(942): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(920): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 340 | 0.0029 | 927 | c.227 others(944): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(920): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01081.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0068a0001c0001t0002g0084a0001c0001t0002g0085others(3): Show | 6 | 304 | 0.0197 | 927 | c.66+ others(942): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(920): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03669.hp2 NA18941.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0284others(2): Show | 5 | 304 | 0.0165 | 927 | c.66+ others(942): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(920): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 304 | 0.0033 | 927 | c.66+ others(942): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(920): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 304 | 0.0033 | 927 | c.66+ others(942): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(920): Show |
intron_variant | MODIFIER | HG01361.hp1 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0118a0001c0001t0005g0119 | 2 | 304 | 0.0066 | 927 | c.66+ others(942): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTATATTA others(920): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0135 | 1 | 160 | 0.0063 | 927 | c.389 others(948): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SAMD11_chr1_918923_949574 | 934400 | G | GGGGGGGG others(920): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0019 | a0001c0019t0006 | a0001c0019t0006g0269 | 1 | 434 | 0.0023 | 927 | c.843 others(944): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SART1_chr11_65956734_65985137 | 65971576 | T | TGCTGAGG others(920): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0123 | 1 | 384 | 0.0026 | 927 | c.157 others(946): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SDHA_chr5_213320_262082 | 260206 | T | TCAGAGCA others(920): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 266 | 0.0038 | 927 | c.*37 others(938): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3125 | chr5 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(920): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 324 | 0.0031 | 927 | c.115 others(944): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432083 | T | TTAGGGTG others(920): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0132 | 1 | 376 | 0.0027 | 927 | c.101 others(944): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(920): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0253 | 1 | 376 | 0.0027 | 927 | c.101 others(944): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(920): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03017.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0061a0001c0001t0097 | a0001c0001t0034g0282a0001c0001t0061g0180a0001c0001t0097g0294 | 3 | 322 | 0.0093 | 927 | c.597 others(944): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377163 | G | GCCCCCAC others(920): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 370 | 0.0027 | 927 | c.-11 others(938): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1138 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377490 | T | TCCCCCCC others(920): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 370 | 0.0027 | 927 | c.-15 others(938): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1465 | chr19 | TogoVar | ||||||
TMEM192_chr4_165065608_165117860 | 165116330 | T | TAGTTCAG others(920): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0102 | a0001c0001t0102g0313 | 1 | 330 | 0.0030 | 927 | c.-35 others(938): Show |
TMEM192 | ENSG00000170088.14 | transcript | ENST00000306480.11 | protein_coding | 3471 | chr4 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(920): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 338 | 0.0030 | 927 | c.*35 others(946): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TXNDC16_chr14_52425596_52557505 | 52530547 | A | ATTATTAT others(920): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0143 | 1 | 238 | 0.0042 | 927 | c.392 others(944): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
ZNF551_chr19_57676977_57695648 | 57685707 | T | TAAGACTT others(920): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0004 | a0004c0004t0022 | a0004c0004t0022g0017 | 1 | 440 | 0.0023 | 927 | c.205 others(942): Show |
ZNF551 | ENSG00000204519.11 | transcript | ENST00000282296.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(921): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0157 | 1 | 306 | 0.0033 | 928 | c.130 others(947): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318049 | C | CCCTCCCC others(921): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0002 | a0002c0002t0047 | a0002c0002t0047g0077 | 1 | 268 | 0.0037 | 928 | c.-37 others(939): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3664 | chr5 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105230798 | A | AGGAGCAA others(921): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 72 | 0.0139 | 928 | c.695 others(945): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 279033 | C | CGGGACGG others(921): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 410 | 0.0024 | 928 | c.465 others(943): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585358 | G | GAGGAGGG others(921): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0006 | a0006c0005 | a0006c0005t0017 | a0006c0005t0017g0019 | 1 | 354 | 0.0028 | 928 | c.-22 others(945): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585434 | G | GTGTTGAG others(921): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0287 | 1 | 354 | 0.0028 | 928 | c.-22 others(945): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585467 | T | TGAGGGAA others(921): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0085 | 1 | 354 | 0.0028 | 928 | c.-22 others(945): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585521 | A | ATGTTGAG others(921): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0290 | 1 | 354 | 0.0028 | 928 | c.-22 others(945): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585521 | A | ATGTTGAG others(921): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0322 | 1 | 354 | 0.0028 | 928 | c.-22 others(945): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585521 | A | ATGTTGAG others(921): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0191 | 1 | 354 | 0.0028 | 928 | c.-22 others(945): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(921): Show |
intron_variant | MODIFIER | HG03017.hp2 NA20905.hp1 |
a0007 | a0007c0005 | a0007c0005t0008 | a0007c0005t0008g0258a0007c0005t0008g0277 | 2 | 338 | 0.0059 | 928 | c.300 others(945): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(921): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 58 | 0.0172 | 928 | c.234 others(949): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |