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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPN4_chr2_119754922_119989899 | 119843900 | G | GGACGGGG others(647): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 252 | 0.0040 | 654 | c.139 others(673): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(647): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0008 | a0008c0012 | a0008c0012t0002 | a0008c0012t0002g0006 | 1 | 67 | 0.0149 | 654 | c.159 others(671): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(647): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0025 | 1 | 67 | 0.0149 | 654 | c.159 others(671): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341252 | A | AAGGGTGG others(647): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0276 | 1 | 312 | 0.0032 | 654 | c.188 others(673): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971120 | T | TGAGGAGG others(647): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0140 | 1 | 384 | 0.0026 | 654 | c.157 others(673): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971332 | T | TGCTGAGG others(647): Show |
intron_variant | MODIFIER | NA18980.hp1 NA19090.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0011 | 2 | 384 | 0.0052 | 654 | c.157 others(673): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243480604 | A | ATGGATGG others(647): Show |
intron_variant | MODIFIER | HG03209.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0124 |
2 | 189 | 0.0106 | 654 | c.198 others(673): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243480604 | A | ATGGATGG others(647): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0051 others(52): Show |
55 | 189 | 0.2910 | 654 | c.198 others(673): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356681 | C | CCCCCTCC others(647): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0017 | 1 | 158 | 0.0063 | 654 | c.22+ others(671): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(647): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 654 | c.*12 others(665): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(647): Show |
downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 654 | c.*12 others(665): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(647): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00621.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
24 | 352 | 0.0682 | 654 | c.*12 others(665): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(647): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 654 | c.*12 others(665): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325185 | G | GGGGGGCA others(647): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0143 | 1 | 150 | 0.0067 | 654 | c.531 others(671): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(647): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0016 | a0016c0024 | a0016c0024t0001 | a0016c0024t0001g0254 | 1 | 352 | 0.0028 | 654 | c.299 others(671): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TECPR1_chr7_98209624_98257232 | 98242993 | C | CCCACCCA others(647): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01928.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0004t0001others(5): Show | a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 others(7): Show |
10 | 346 | 0.0289 | 654 | c.657 others(669): Show |
TECPR1 | ENSG00000205356.10 | transcript | ENST00000447648.7 | protein_coding | 6/25 | chr7 | TogoVar | |||||||
TECPR1_chr7_98209624_98257232 | 98242993 | C | CCCACCCA others(647): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02738.hp1 |
a0001a0007 | a0001c0003a0007c0010 | a0001c0003t0098a0007c0010t0006 | a0001c0003t0098g0185 a0007c0010t0006g0184 |
2 | 346 | 0.0058 | 654 | c.657 others(669): Show |
TECPR1 | ENSG00000205356.10 | transcript | ENST00000447648.7 | protein_coding | 6/25 | chr7 | TogoVar | |||||||
TERB1_chr16_66749640_66806584 | 66760130 | C | CAAAAAAA others(647): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01358.hp2 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 others(1): Show |
4 | 352 | 0.0114 | 654 | c.178 others(672): Show |
TERB1 | ENSG00000249961.10 | transcript | ENST00000433154.6 | protein_coding | 16/18 | chr16 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273607 | C | CGCCATCC others(647): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 392 | 0.0026 | 654 | c.228 others(673): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38124011 | T | TATAATAT others(647): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 HG03471.hp2 |
a0001 | a0001c0008 | a0001c0008t0008 | a0001c0008t0008g0126 a0001c0008t0008g0151 |
2 | 360 | 0.0056 | 654 | c.*62 others(665): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3373 | chr20 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(647): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01071.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 others(12): Show |
15 | 256 | 0.0586 | 654 | c.924 others(671): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(647): Show |
intron_variant | MODIFIER | HG01106.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020 a0001c0001t0005g0203 |
2 | 256 | 0.0078 | 654 | c.924 others(671): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(647): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00642.hp2 others(24): Show |
a0001a0002a0015 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0042 others(24): Show |
27 | 256 | 0.1055 | 654 | c.924 others(671): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(647): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 256 | 0.0039 | 654 | c.924 others(671): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(647): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0125 | 1 | 256 | 0.0039 | 654 | c.924 others(671): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(647): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01884.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0017 | a0001c0001t0001g0098 a0001c0003t0017g0243 |
2 | 256 | 0.0078 | 654 | c.924 others(671): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(647): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 256 | 0.0039 | 654 | c.924 others(671): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(647): Show |
intron_variant | MODIFIER | HG01433.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0131 |
2 | 256 | 0.0078 | 654 | c.924 others(671): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TMEM202_chr15_72393305_72413367 | 72396865 | C | CCCGGCCA others(647): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 7 | 396 | 0.0177 | 654 | c.-14 others(665): Show |
TMEM202 | ENSG00000187806.9 | transcript | ENST00000341689.4 | protein_coding | 1439 | chr15 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(647): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0029 | 1 | 114 | 0.0088 | 654 | c.-25 others(673): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377652 | T | TCCCCTCC others(647): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0007 | a0007c0025 | a0007c0025t0002 | a0007c0025t0002g0114 | 1 | 114 | 0.0088 | 654 | c.-25 others(673): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418880 | T | TCCTTTCC others(647): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0034 | 1 | 114 | 0.0088 | 654 | c.215 others(671): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321659 | C | CGCACGCA others(647): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02809.hp1 others(3): Show |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0040 a0004c0007t0001g0368 a0004c0007t0001g0371 others(2): Show |
6 | 430 | 0.0140 | 654 | c.961 others(669): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507168 | C | CATACGTA others(647): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 388 | 0.0026 | 654 | c.-23 others(671): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRAPPC12_chr2_3374694_3484565 | 3437875 | C | CCCCCCAT others(647): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19004.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 2 | 344 | 0.0058 | 654 | c.141 others(673): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273308 | T | TTATATAT others(647): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 NA18970.hp1 NA19058.hp2 |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0009c0010t0001 | a0001c0001t0001g0001 a0001c0001t0001g0036 a0009c0010t0001g0065 |
3 | 272 | 0.0110 | 654 | c.*28 others(665): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2195 | chr11 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273358 | T | TTATATAT others(647): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 272 | 0.0037 | 654 | c.*29 others(665): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2245 | chr11 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(647): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0102 | 1 | 246 | 0.0041 | 654 | c.-10 others(671): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(648): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0176 | 1 | 249 | 0.0040 | 655 | c.49- others(670): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(648): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0018 | a0001c0018t0048 | a0001c0018t0048g0000 | 1 | 416 | 0.0024 | 655 | c.*10 others(668): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(648): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(27): Show |
44 | 292 | 0.1507 | 655 | c.*21 others(670): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(648): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0005 | a0001c0005t0061 | a0001c0005t0061g0180 | 1 | 376 | 0.0027 | 655 | c.63+ others(668): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255222 | A | ATATATAT others(648): Show |
intron_variant | MODIFIER | HG03492.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0045 a0001c0020t0001g0229 |
2 | 330 | 0.0061 | 655 | c.907 others(670): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255344 | A | ATATATAT others(648): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03579.hp1 NA18906.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0156 a0003c0003t0001g0232 a0003c0003t0001g0311 |
3 | 330 | 0.0091 | 655 | c.907 others(670): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(648): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02027.hp1 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0219 a0001c0001t0009g0094 a0001c0001t0009g0101 |
3 | 324 | 0.0093 | 655 | c.110 others(672): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(648): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0155 | 1 | 270 | 0.0037 | 655 | c.162 others(676): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(648): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0026 | a0002c0026t0004 | a0002c0026t0004g0266 | 1 | 344 | 0.0029 | 655 | c.85- others(672): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
DCC_chr18_52335197_53540899 | 53375547 | A | ACAATATT others(648): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0016 | 1 | 114 | 0.0088 | 655 | c.236 others(676): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FLT3_chr13_27998274_28105576 | 27999091 | G | GTATATAA others(648): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0193 | 1 | 292 | 0.0034 | 655 | c.*49 others(666): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186119 | G | GGAGGAAC others(648): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 655 | c.*50 others(666): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4941 | chr16 | TogoVar |