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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TPD52_chr8_80029745_80176564 | 80127787 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp2 HG01169.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0097 a0001c0001t0001g0147 a0001c0001t0001g0150 others(9): Show |
12 | 122 | 0.0984 | -12 | c.19+ others(29): Show |
TPD52 | ENSG00000076554.16 | transcript | ENST00000518937.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
TPD52_chr8_80029745_80176564 | 80127827 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03130.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0135 a0001c0001t0001g0207 a0001c0001t0001g0215 others(5): Show |
8 | 226 | 0.0354 | -12 | c.19+ others(29): Show |
TPD52 | ENSG00000076554.16 | transcript | ENST00000518937.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
TPD52_chr8_80029745_80176564 | 80164013 | TGAGAGAG others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02572.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0002g0004 others(5): Show |
8 | 226 | 0.0354 | -12 | c.19+ others(27): Show |
TPD52 | ENSG00000076554.16 | transcript | ENST00000518937.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
TPD52_chr8_80029745_80176564 | 80171363 | AAAGCCCG others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00558.hp2 others(144): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0091 others(144): Show |
147 | 226 | 0.6504 | -12 | c.19+ others(23): Show |
TPD52 | ENSG00000076554.16 | transcript | ENST00000518937.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
TPGS1_chr19_502497_524654 | 502992 | CTTCCCTG others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0137 | 1 | 342 | 0.0029 | -12 | c.-45 others(23): Show |
TPGS1 | ENSG00000141933.9 | transcript | ENST00000359315.6 | protein_coding | 4504 | chr19 | TogoVar | |||||||
TPGS2_chr18_36789108_36834002 | 36794832 | AACACACA others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03098.hp2 HG03540.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0063 a0001c0001t0001g0121 others(1): Show |
4 | 48 | 0.0833 | -12 | c.*19 others(23): Show |
TPGS2 | ENSG00000134779.15 | transcript | ENST00000334295.9 | protein_coding | 7/7 | 1961 | chr18 | TogoVar | ||||||
TPGS2_chr18_36789108_36834002 | 36806850 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0144 | 1 | 130 | 0.0077 | -12 | c.253 others(27): Show |
TPGS2 | ENSG00000134779.15 | transcript | ENST00000334295.9 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
TPGS2_chr18_36789108_36834002 | 36826404 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 61 | 0.0164 | -12 | c.85+ others(27): Show |
TPGS2 | ENSG00000134779.15 | transcript | ENST00000334295.9 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
TPH1_chr11_18012555_18051269 | 18015266 | TGTGTGTG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0123 | 1 | 395 | 0.0025 | -12 | c.*57 others(23): Show |
TPH1 | ENSG00000129167.10 | transcript | ENST00000682019.1 | protein_coding | 2288 | chr11 | TogoVar | |||||||
TPH1_chr11_18012555_18051269 | 18015268 | TGTGTGTG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0005 | a0001c0005t0033 | a0001c0005t0033g0257 | 1 | 395 | 0.0025 | -12 | c.*57 others(23): Show |
TPH1 | ENSG00000129167.10 | transcript | ENST00000682019.1 | protein_coding | 2286 | chr11 | TogoVar | |||||||
TPH1_chr11_18012555_18051269 | 18015272 | TGTGAGAG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02258.hp1 HG03486.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0006a0001c0001t0052a0001c0001t0053others(1): Show | a0001c0001t0006g0007 a0001c0001t0052g0148 a0001c0001t0053g0147 others(1): Show |
4 | 368 | 0.0109 | -12 | c.*57 others(23): Show |
TPH1 | ENSG00000129167.10 | transcript | ENST00000682019.1 | protein_coding | 2282 | chr11 | TogoVar | |||||||
TPH1_chr11_18012555_18051269 | 18015274 | TGAGAGAG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG02165.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0004g0021 a0001c0001t0005g0003 a0001c0001t0005g0063 others(11): Show |
14 | 77 | 0.1818 | -12 | c.*57 others(23): Show |
TPH1 | ENSG00000129167.10 | transcript | ENST00000682019.1 | protein_coding | 2280 | chr11 | TogoVar | |||||||
TPH1_chr11_18012555_18051269 | 18018665 | CAAAAAAA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02135.hp2 HG02258.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0053a0001c0001t0054others(1): Show | a0001c0001t0052g0148 a0001c0001t0053g0147 a0001c0001t0054g0219 others(1): Show |
4 | 71 | 0.0563 | -12 | c.*23 others(23): Show |
TPH1 | ENSG00000129167.10 | transcript | ENST00000682019.1 | protein_coding | 11/11 | 2314 | chr11 | TogoVar | ||||||
TPH2_chr12_71933845_72037440 | 72021356 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG04204.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 a0001c0002t0001g0195 |
2 | 149 | 0.0134 | -12 | c.106 others(31): Show |
TPH2 | ENSG00000139287.13 | transcript | ENST00000333850.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TPK1_chr7_144446941_144841053 | 144597122 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00738.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(41): Show |
44 | 68 | 0.6471 | -12 | c.355 others(29): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 6/8 | chr7 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144676080 | CTAATTCT others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02897.hp2 HG02922.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0023 others(5): Show |
8 | 75 | 0.1067 | -12 | c.185 others(29): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 4/8 | chr7 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144681402 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01081.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0051 others(1): Show |
4 | 7 | 0.5714 | -12 | c.185 others(29): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 4/8 | chr7 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144716835 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG02004.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0062 a0001c0001t0001g0092 a0001c0001t0001g0094 others(4): Show |
7 | 50 | 0.1400 | -12 | c.116 others(31): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144721625 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00738.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(29): Show |
32 | 64 | 0.5000 | -12 | c.116 others(31): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144759510 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG00741.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0039 others(20): Show |
23 | 116 | 0.1983 | -12 | c.115 others(29): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144767953 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 27 | 0.0370 | -12 | c.44- others(27): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144767973 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0097 others(1): Show |
4 | 116 | 0.0345 | -12 | c.44- others(27): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144804243 | TACTTCAA others(5): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 116 | 0.0086 | -12 | c.43+ others(29): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144833450 | ATTGTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0030 others(14): Show |
17 | 112 | 0.1518 | -12 | c.43+ others(27): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
TPM3_chr1_154156813_154197100 | 154189131 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00673.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0035 others(37): Show |
47 | 56 | 0.8393 | -12 | c.243 others(29): Show |
TPM3 | ENSG00000143549.22 | transcript | ENST00000651641.1 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
TPM3_chr1_154156813_154197100 | 154189798 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0331 | 1 | 306 | 0.0033 | -12 | c.243 others(29): Show |
TPM3 | ENSG00000143549.22 | transcript | ENST00000651641.1 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
TPM4_chr19_16071495_16108002 | 16082990 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03831.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0063 |
2 | 164 | 0.0122 | -12 | c.266 others(27): Show |
TPM4 | ENSG00000167460.17 | transcript | ENST00000643579.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TPMT_chr6_18123311_18160077 | 18151573 | GATTTATT others(5): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 156 | 0.0064 | -12 | c.-44 others(29): Show |
TPMT | ENSG00000137364.5 | transcript | ENST00000309983.5 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
TPO_chr2_1408463_1548673 | 1414987 | CTGCAGGG others(5): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0123 | 1 | 128 | 0.0078 | -12 | c.94+ others(25): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1479744 | TGTCCTCC others(5): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010 | a0001c0001t0007g0014 a0001c0001t0010g0054 |
2 | 128 | 0.0156 | -12 | c.133 others(31): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TPP2_chr13_102591986_102684958 | 102624852 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG02040.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0038 a0001c0002t0001g0047 a0001c0002t0001g0073 others(6): Show |
9 | 293 | 0.0307 | -12 | c.784 others(29): Show |
TPP2 | ENSG00000134900.13 | transcript | ENST00000376052.5 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TPP2_chr13_102591986_102684958 | 102648429 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01975.hp2 HG01981.hp1 others(25): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0021 others(20): Show |
28 | 89 | 0.3146 | -12 | c.262 others(29): Show |
TPP2 | ENSG00000134900.13 | transcript | ENST00000376052.5 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TPP2_chr13_102591986_102684958 | 102652397 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01978.hp1 HG02056.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0059 a0001c0002t0001g0067 a0001c0002t0001g0072 others(7): Show |
10 | 21 | 0.4762 | -12 | c.299 others(31): Show |
TPP2 | ENSG00000134900.13 | transcript | ENST00000376052.5 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TPP2_chr13_102591986_102684958 | 102658866 | GTAGGGGC others(5): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG02257.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0190 a0001c0001t0003g0019 |
3 | 364 | 0.0082 | -12 | c.314 others(31): Show |
TPP2 | ENSG00000134900.13 | transcript | ENST00000376052.5 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TPPP_chr5_654862_698352 | 693446 | GCCCGCCC others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp1 NA18943.hp1 NA18969.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0090a0001c0002t0036a0001c0002t0088others(2): Show | a0001c0001t0090g0367 a0001c0002t0036g0365 a0001c0002t0088g0364 others(2): Show |
5 | 408 | 0.0123 | -12 | c.-18 others(21): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 95 | chr5 | TogoVar | |||||||
TPPP_chr5_654862_698352 | 694036 | AGCGCGCA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(77): Show | a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0023 others(248): Show |
284 | 408 | 0.6961 | -12 | c.-77 others(21): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 685 | chr5 | TogoVar | |||||||
TPRA1_chr3_127566232_127595733 | 127577398 | CAGCACGC others(5): Show |
C | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0094 | 1 | 424 | 0.0024 | -12 | c.259 others(27): Show |
TPRA1 | ENSG00000163870.16 | transcript | ENST00000355552.8 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
TPRA1_chr3_127566232_127595733 | 127584447 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG04115.hp2 NA18522.hp2 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009a0001c0002t0020 | a0001c0001t0001g0139 a0001c0002t0009g0072 a0001c0002t0020g0073 |
3 | 57 | 0.0526 | -12 | c.-17 others(29): Show |
TPRA1 | ENSG00000163870.16 | transcript | ENST00000355552.8 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
TPRG1_chr3_189166971_189330304 | 189262203 | GGTATAAG others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG02027.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0113 others(6): Show |
9 | 131 | 0.0687 | -12 | c.479 others(31): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189270017 | ATCTTCTT others(5): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00733.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0072 a0001c0001t0001g0141 a0001c0001t0001g0182 others(43): Show |
46 | 110 | 0.4182 | -12 | c.479 others(31): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189272740 | CTTCCTTC others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0015 | a0001c0001t0007g0061 a0001c0001t0010g0048 a0001c0001t0015g0062 others(1): Show |
4 | 286 | 0.0140 | -12 | c.479 others(31): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189312093 | CTTTGTTT others(5): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01175.hp2 HG01515.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0002g0030 a0001c0001t0002g0110 a0001c0001t0002g0148 others(11): Show |
14 | 245 | 0.0571 | -12 | c.633 others(29): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189312173 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01257.hp2 HG01346.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0155 others(22): Show |
25 | 286 | 0.0874 | -12 | c.633 others(29): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189329806 | CTTATTTA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG02970.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0009a0001c0001t0013others(2): Show | a0001c0001t0007g0011 a0001c0001t0007g0070 a0001c0001t0009g0205 others(4): Show |
7 | 186 | 0.0376 | -12 | c.*89 others(23): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 4503 | chr3 | TogoVar | |||||||
TPRX1_chr19_47796232_47809551 | 47802295 | ATCGGGCC others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG02257.hp1 HG02976.hp1 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004 | a0001c0001t0002g0047 a0001c0001t0002g0078 a0002c0002t0004g0036 |
3 | 408 | 0.0074 | -12 | c.869 others(19): Show |
p.Asn others(13): Show |
TPRX1 | ENSG00000178928.9 | transcript | ENST00000698655.1 | protein_coding | 3/3 | 892/1956 | 869/1401 | 290/466 | chr19 | TogoVar | |||
TPRX1_chr19_47796232_47809551 | 47802317 | AGATTGGG others(5): Show |
A | conservative_inframe_deletion | MODERATE | HG02818.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
a0007a0012 | a0007c0011a0012c0017 | a0007c0011t0001a0012c0017t0001 | a0007c0011t0001g0021 a0012c0017t0001g0032 |
5 | 408 | 0.0123 | -12 | c.847 others(19): Show |
p.Pro others(13): Show |
TPRX1 | ENSG00000178928.9 | transcript | ENST00000698655.1 | protein_coding | 3/3 | 870/1956 | 847/1401 | 283/466 | chr19 | TogoVar | |||
TPRX1_chr19_47796232_47809551 | 47802355 | TTTGGGCC others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01168.hp1 HG01257.hp2 HG02004.hp2 others(7): Show |
a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0010 a0005c0007t0002g0052 |
10 | 408 | 0.0245 | -12 | c.809 others(19): Show |
p.Ile others(13): Show |
TPRX1 | ENSG00000178928.9 | transcript | ENST00000698655.1 | protein_coding | 3/3 | 832/1956 | 809/1401 | 270/466 | chr19 | TogoVar | |||
TPRX1_chr19_47796232_47809551 | 47802381 | TGGGCCTG others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01070.hp1 HG01071.hp1 HG01081.hp2 others(4): Show |
a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0012 a0006c0008t0003g0081 |
7 | 408 | 0.0172 | -12 | c.783 others(19): Show |
p.Ile others(13): Show |
TPRX1 | ENSG00000178928.9 | transcript | ENST00000698655.1 | protein_coding | 3/3 | 806/1956 | 783/1401 | 261/466 | chr19 | TogoVar | |||
TPR_chr1_186306652_186380253 | 186319423 | TACAAAGT others(5): Show |
T | intron_variant | MODIFIER | HG01123.hp2 | a0011 | a0011c0018 | a0011c0018t0002 | a0011c0018t0002g0113 | 1 | 406 | 0.0025 | -12 | c.656 others(29): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 46/50 | chr1 | TogoVar | |||||||
TPR_chr1_186306652_186380253 | 186375993 | AGTGTGTG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 NA18906.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0203 a0003c0003t0001g0205 |
2 | 61 | 0.0328 | -12 | c.-97 others(21): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 741 | chr1 | TogoVar |