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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDCD6_chr5_266646_319974 | 318238 | C | CCACCCTG others(737): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 360 | 0.0028 | 744 | c.*37 others(755): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3265 | chr5 | TogoVar | |||||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(737): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 250 | 0.0040 | 744 | c.309 others(763): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(737): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 250 | 0.0040 | 744 | c.309 others(763): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(737): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0169 | 1 | 250 | 0.0040 | 744 | c.309 others(763): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(737): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0170 | 1 | 250 | 0.0040 | 744 | c.309 others(763): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(737): Show |
intron_variant | MODIFIER | NA18949.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | 250 | 0.0080 | 744 | c.309 others(763): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133807 | C | CCTCTCCA others(737): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 227 | 0.0044 | 744 | c.*23 others(755): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2095 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133994 | C | CACCTTCC others(737): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 227 | 0.0044 | 744 | c.*25 others(755): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2282 | chr19 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 504279 | C | CTCCCATC others(737): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0157 | 1 | 295 | 0.0034 | 744 | c.139 others(763): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130483273 | G | GGGGGCAG others(737): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0180 | 1 | 180 | 0.0056 | 744 | c.-3- others(759): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646387 | C | CTCCCTCG others(737): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0055 a0006c0017t0001g0056 |
2 | 180 | 0.0111 | 744 | c.-35 others(765): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646406 | T | TCCACCTC others(737): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 180 | 0.0056 | 744 | c.-35 others(765): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(737): Show |
intron_variant | MODIFIER | HG02976.hp1 NA20300.hp2 |
a0001 | a0001c0072a0001c0073 | a0001c0072t0057a0001c0073t0065 | a0001c0072t0057g0031 a0001c0073t0065g0027 |
2 | 116 | 0.0172 | 744 | c.332 others(763): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(737): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0083 | 1 | 324 | 0.0031 | 744 | c.115 others(761): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(737): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 324 | 0.0031 | 744 | c.115 others(761): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77356680 | T | TCCCCCTC others(737): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 150 | 0.0067 | 744 | c.77- others(761): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356680 | T | TCCCCCTC others(737): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 158 | 0.0063 | 744 | c.22+ others(761): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TADA1_chr1_166851510_166881264 | 166866429 | C | CAAATATT others(737): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150 | 1 | 418 | 0.0024 | 744 | c.233 others(761): Show |
TADA1 | ENSG00000152382.6 | transcript | ENST00000367874.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
TBXAS1_chr7_139824264_140025293 | 139950664 | A | ACCCTCCA others(737): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 270 | 0.0037 | 744 | c.451 others(761): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950763 | C | CTCCATCT others(737): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 270 | 0.0037 | 744 | c.451 others(761): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828738 | A | AGGAGGAA others(737): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0005 | a0005c0013 | a0005c0013t0003 | a0005c0013t0003g0045 | 1 | 94 | 0.0106 | 744 | c.79+ others(761): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(737): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 114 | 0.0088 | 744 | c.-25 others(763): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(737): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 a0001c0003t0001g0049 |
2 | 272 | 0.0074 | 744 | c.*29 others(755): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(737): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0019 | a0019c0033 | a0019c0033t0001 | a0019c0033t0001g0114 | 1 | 334 | 0.0030 | 744 | c.657 others(759): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(737): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 338 | 0.0030 | 744 | c.*35 others(763): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGAGGCTG others(737): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0320 | 1 | 344 | 0.0029 | 744 | c.218 others(761): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(738): Show |
intron_variant | MODIFIER | NA18974.hp2 NA19067.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0321 a0003c0002t0001g0322 |
2 | 360 | 0.0056 | 745 | c.170 others(766): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1617235 | T | TGCTCTGC others(738): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0040 | 1 | 106 | 0.0094 | 745 | c.100 others(766): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251784 | A | ATGGGGAA others(738): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 242 | 0.0041 | 745 | c.927 others(762): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(738): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02280.hp2 HG02886.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0004a0001c0003t0013 | a0001c0003t0003g0084 a0001c0003t0003g0087 a0001c0003t0004g0062 others(6): Show |
9 | 242 | 0.0372 | 745 | c.927 others(762): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(738): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 242 | 0.0041 | 745 | c.927 others(762): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(738): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0161 | 1 | 242 | 0.0041 | 745 | c.927 others(762): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(738): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0235 | 1 | 242 | 0.0041 | 745 | c.927 others(762): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(738): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0237 | 1 | 242 | 0.0041 | 745 | c.927 others(762): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82959000 | G | GTGTACAC others(738): Show |
intron_variant | MODIFIER | HG02559.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0017a0001c0011t0017 | a0001c0001t0017g0177 a0001c0011t0017g0145 |
2 | 266 | 0.0075 | 745 | c.681 others(762): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(738): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0009 | a0001c0009t0019 | a0001c0009t0019g0039 | 1 | 58 | 0.0172 | 745 | c.234 others(766): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803012 | G | GGGGGCCC others(738): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 398 | 0.0025 | 745 | c.666 others(760): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591826 | T | TGATGGTG others(738): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03516.hp2 |
a0007 | a0007c0027 | a0007c0027t0001 | a0007c0027t0001g0035 a0007c0027t0001g0036 |
2 | 344 | 0.0058 | 745 | c.373 others(762): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939818 | A | AAAAGAAA others(738): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02293.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0003 a0001c0003t0002g0135 |
4 | 258 | 0.0155 | 745 | c.403 others(760): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500621 | T | TGTGTGTT others(738): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 | 1 | 292 | 0.0034 | 745 | c.268 others(764): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(738): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0075 | 1 | 344 | 0.0029 | 745 | c.85- others(762): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131978121 | A | ATTATTAT others(738): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 94 | 0.0106 | 745 | c.-2+ others(762): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647631 | T | TCCCCCTC others(738): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG02809.hp1 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0037a0001c0001t0046others(1): Show | a0001c0001t0011g0030 a0001c0001t0011g0034 a0001c0001t0037g0139 others(2): Show |
5 | 276 | 0.0181 | 745 | c.*54 others(756): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2287 | chr15 | TogoVar | |||||||
CUX2_chr12_111029165_111355554 | 111325963 | T | TGGGGGAG others(738): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0002a0001c0012a0001c0020 | a0001c0002t0001a0001c0012t0001a0001c0020t0004 | a0001c0002t0001g0018 a0001c0002t0001g0051 a0001c0002t0001g0066 others(4): Show |
7 | 100 | 0.0700 | 745 | c.292 others(764): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725401 | G | GGCAGAGA others(738): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0221 | 1 | 324 | 0.0031 | 745 | c.340 others(762): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725555 | C | CGGGGGAT others(738): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0304 | 1 | 324 | 0.0031 | 745 | c.340 others(762): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(738): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0152 a0001c0001t0015g0253 |
2 | 336 | 0.0060 | 745 | c.348 others(762): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GTAGTAGT others(738): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0262 | 1 | 298 | 0.0034 | 745 | c.126 others(762): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | chr3 | TogoVar | |||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(738): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00621.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(26): Show |
29 | 198 | 0.1465 | 745 | c.105 others(764): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(738): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0036 |
2 | 198 | 0.0101 | 745 | c.105 others(764): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |