| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LMF1_chr16_848634_975984 | 857822 | A | AGTGGTGT others(504): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0164 | 1 | 196 | 0.0051 | 511 | c.153 others(530): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAAAGC others(504): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02148.hp1 HG02148.hp2 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0003c0011t0001 | a0001c0001t0001g0087 a0001c0001t0001g0096 a0003c0011t0001g0020 |
3 | 63 | 0.0476 | 511 | c.363 others(528): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAAGCC others(504): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18522.hp1 NA19030.hp1 others(2): Show |
a0001a0003 | a0001c0004a0003c0006 | a0001c0004t0001a0003c0006t0001 | a0001c0004t0001g0003 a0003c0006t0001g0024 a0003c0006t0001g0031 others(2): Show |
5 | 65 | 0.0769 | 511 | c.363 others(528): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAAGCC others(504): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01167.hp1 HG01169.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0071 others(31): Show |
34 | 94 | 0.3617 | 511 | c.363 others(528): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAAGCC others(504): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02970.hp2 |
a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0004 a0003c0016t0001g0028 |
2 | 62 | 0.0323 | 511 | c.363 others(528): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAGCCA others(504): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0104 | 1 | 61 | 0.0164 | 511 | c.363 others(528): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LRP5_chr11_68307591_68454275 | 68428943 | A | AAGCCAGG others(504): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18991.hp2 |
a0001 | a0001c0004a0001c0036 | a0001c0004t0001a0001c0036t0001 | a0001c0004t0001g0114 a0001c0036t0001g0165 |
2 | 62 | 0.0323 | 511 | c.363 others(528): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(504): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0074 | 1 | 6 | 0.1667 | 511 | c.368 others(528): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
| MBD3L3_chr19_7051207_7063676 | 7061827 | G | GAATATAA others(504): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 239 | 0.0042 | 511 | c.-32 others(522): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3152 | chr19 | TogoVar | |||||||
| MCF2L2_chr3_183173041_183433619 | 183314935 | T | TGAGACAG others(504): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0016 | a0001c0016t0024 | a0001c0016t0024g0166 | 1 | 120 | 0.0083 | 511 | c.753 others(528): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
| MINK1_chr17_4828340_4903061 | 4852769 | T | TGGGGGAG others(504): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0101 | 1 | 25 | 0.0400 | 511 | c.57+ others(528): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TAATATAT others(504): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0066 | 1 | 202 | 0.0050 | 511 | c.48+ others(526): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(504): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0133 | 1 | 118 | 0.0085 | 511 | c.-75 others(530): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGAGG others(504): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18945.hp2 NA18982.hp1 |
a0001 | a0001c0007a0001c0043 | a0001c0007t0010a0001c0043t0001 | a0001c0007t0010g0251 a0001c0007t0010g0252 a0001c0043t0001g0196 |
3 | 208 | 0.0144 | 511 | c.140 others(528): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGAGG others(504): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 206 | 0.0049 | 511 | c.140 others(528): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(504): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0149 | 1 | 38 | 0.0263 | 511 | c.342 others(530): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
| NT5DC3_chr12_103767310_103846234 | 103768606 | G | GGAGGGAG others(504): Show |
downstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0140 | 1 | 168 | 0.0060 | 511 | c.*92 others(522): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3703 | chr12 | TogoVar | |||||||
| NUP205_chr7_135552917_135653753 | 135570756 | T | TTATATAT others(504): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0014 | 1 | 267 | 0.0037 | 511 | c.29- others(524): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 949596 | T | TCCCCCTG others(504): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 233 | 0.0043 | 511 | c.360 others(530): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| ODF3_chr11_191761_205258 | 196521 | A | ACATGGGG others(504): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02922.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 4 | 210 | 0.0190 | 511 | c.-53 others(520): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 239 | chr11 | TogoVar | |||||||
| ODF3_chr11_191761_205258 | 196521 | A | ACATGGGG others(504): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp1 others(5): Show |
a0002a0005 | a0002c0003a0005c0007 | a0002c0003t0001a0005c0007t0001 | a0002c0003t0001g0008 a0005c0007t0001g0008 |
8 | 214 | 0.0374 | 511 | c.-53 others(520): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 239 | chr11 | TogoVar | |||||||
| OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(504): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0066 | 1 | 2 | 0.5000 | 511 | c.162 others(530): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
| PARP10_chr8_143972158_143991460 | 143981429 | G | GTGGTGAT others(504): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0260 | 1 | 271 | 0.0037 | 511 | c.255 others(530): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
| PARP10_chr8_143972158_143991460 | 143981666 | G | GTGGTGAT others(504): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0220 | 1 | 303 | 0.0033 | 511 | c.255 others(530): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
| PARP10_chr8_143972158_143991460 | 143981912 | A | ATGGTGGT others(504): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(18): Show |
a0002a0005a0007 | a0002c0002a0005c0005a0007c0009 | a0002c0002t0002a0002c0002t0003a0005c0005t0003others(1): Show | a0002c0002t0002g0037 a0002c0002t0002g0207 a0002c0002t0002g0233 others(14): Show |
21 | 307 | 0.0684 | 511 | c.255 others(530): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
| PCBP3_chr21_45638725_45947450 | 45909848 | A | ACCCCCCC others(504): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 158 | 0.0063 | 511 | c.471 others(526): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45910134 | C | CCCGCCCA others(504): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 258 | 0.0039 | 511 | c.471 others(526): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | chr21 | TogoVar | |||||||
| PIEZO1_chr16_88710338_88790220 | 88728520 | G | GCCCCATC others(504): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG03130.hp2 |
a0024a0064 | a0024c0028a0064c0093 | a0024c0028t0001a0024c0028t0010a0064c0093t0008 | a0024c0028t0001g0221 a0024c0028t0010g0003 a0064c0093t0008g0279 |
3 | 279 | 0.0108 | 511 | c.319 others(528): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 22/50 | chr16 | TogoVar | |||||||
| PNPLA7_chr9_137454952_137555402 | 137503807 | A | AGGAAGAA others(504): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0183 | 1 | 186 | 0.0054 | 511 | c.147 others(530): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
| PRKCZ_chr1_2045411_2190395 | 2123710 | G | GTCACGGC others(504): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0264 | 1 | 207 | 0.0048 | 511 | c.335 others(530): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PTP4A3_chr8_141387021_141437454 | 141429666 | A | AGGTCCCC others(504): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 2 | 0.5000 | 511 | c.405 others(528): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(504): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0173 | 1 | 10 | 0.1000 | 511 | c.80+ others(528): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80274697 | G | GGGTGAGT others(504): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02976.hp1 |
a0029 | a0029c0032 | a0029c0032t0015 | a0029c0032t0015g0021 a0029c0032t0015g0022 |
2 | 245 | 0.0082 | 511 | c.261 others(528): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80274697 | G | GGGTGAGT others(504): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02717.hp2 HG02970.hp1 others(6): Show |
a0016a0030a0047others(4): Show | a0016c0018a0030c0031a0047c0102others(4): Show | a0016c0018t0021a0016c0018t0048a0030c0031t0003others(5): Show | a0016c0018t0021g0025 a0016c0018t0048g0024 a0030c0031t0003g0019 others(6): Show |
9 | 252 | 0.0357 | 511 | c.261 others(528): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934433 | A | AGGCTGCT others(504): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0220 | 1 | 394 | 0.0025 | 511 | c.843 others(528): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SCGB1C1_chr11_188078_199575 | 196521 | A | ACATGGGG others(504): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02922.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 4 | 206 | 0.0194 | 511 | c.*20 others(522): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1947 | chr11 | TogoVar | |||||||
| SCGB1C1_chr11_188078_199575 | 196521 | A | ACATGGGG others(504): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01261.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 a0001c0004t0001g0009 |
5 | 207 | 0.0242 | 511 | c.*20 others(522): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1947 | chr11 | TogoVar | |||||||
| SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(504): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0262 | 1 | 164 | 0.0061 | 511 | c.464 others(524): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1098615 | T | TCACCCAG others(504): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0031 | a0001c0031t0003 | a0001c0031t0003g0007 | 1 | 78 | 0.0128 | 511 | c.125 others(528): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
| SLC12A7_chr5_1045384_1117063 | 1098623 | C | CCCCCCTC others(504): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0026 | a0002c0026t0004 | a0002c0026t0004g0086 | 1 | 97 | 0.0103 | 511 | c.125 others(528): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
| SMYD3_chr1_245744347_246512279 | 246071974 | G | GTGTGCTT others(504): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02922.hp2 HG02970.hp2 others(2): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0002a0002c0004t0001others(1): Show | a0002c0003t0001g0096 a0002c0003t0002g0095 a0002c0004t0001g0107 others(2): Show |
5 | 138 | 0.0362 | 511 | c.532 others(532): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
| SPIRE2_chr16_89823475_89876319 | 89852076 | T | TGGCCCAT others(504): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 354 | 0.0028 | 511 | c.645 others(528): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| STAB2_chr12_103582273_103771719 | 103768606 | G | GGAGGGAG others(504): Show |
downstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0143 | 1 | 126 | 0.0079 | 511 | c.*22 others(522): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1888 | chr12 | TogoVar | |||||||
| STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(504): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02897.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 |
3 | 5 | 0.6000 | 511 | c.597 others(528): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
| STMN3_chr20_63634712_63658424 | 63642015 | C | CCCCCGCC others(504): Show |
intron_variant | MODIFIER | HG03486.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0064 | a0001c0001t0052g0261 a0001c0001t0064g0263 |
2 | 42 | 0.0476 | 511 | c.483 others(524): Show |
STMN3 | ENSG00000197457.10 | transcript | ENST00000370053.3 | protein_coding | 4/4 | chr20 | TogoVar | |||||||
| SYDE2_chr1_85151889_85206016 | 85154441 | C | CTCTGCCG others(504): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0008 | a0008c0007 | a0008c0007t0004 | a0008c0007t0004g0232 | 1 | 3 | 0.3333 | 511 | c.*43 others(522): Show |
SYDE2 | ENSG00000097096.10 | transcript | ENST00000341460.6 | protein_coding | 2447 | chr1 | TogoVar | |||||||
| TCF3_chr19_1604292_1657615 | 1628357 | A | AGGGGGTG others(504): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0069 | 1 | 318 | 0.0031 | 511 | c.299 others(526): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
| TCF3_chr19_1604292_1657615 | 1628423 | A | ACGGGGTG others(504): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0345 | 1 | 330 | 0.0030 | 511 | c.299 others(526): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
| TCF3_chr19_1604292_1657615 | 1629082 | C | CGGGAAGG others(504): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 288 | 0.0035 | 511 | c.299 others(528): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
| TOLLIP_chr11_1269371_1314632 | 1294490 | A | AGTGTGTC others(504): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0281 | 1 | 280 | 0.0036 | 511 | c.183 others(528): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 2/5 | chr11 | TogoVar |