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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TPRG1_chr3_189166971_189330304 | 189206012 | T | TTTCCTTC others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0156 others(54): Show |
57 | 288 | 0.1979 | 12 | c.-9- others(27): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189206807 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02451.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0001g0063 a0001c0001t0007g0061 a0001c0001t0007g0062 others(7): Show |
10 | 288 | 0.0347 | 12 | c.-9- others(25): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 1/5 | chr3 | TogoVar | |||||||
TPRG1_chr3_189166971_189330304 | 189206808 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01069.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0052 a0001c0001t0002g0035 a0001c0001t0004g0187 others(43): Show |
46 | 288 | 0.1597 | 12 | c.-9- others(25): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189231265 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01074.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0028 a0001c0001t0002g0022 a0001c0001t0002g0026 others(10): Show |
13 | 288 | 0.0451 | 12 | c.303 others(29): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189250513 | C | CCCCCCCC others(5): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0002 | 1 | 288 | 0.0035 | 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 | 189262203 | G | GGTATAAG others(5): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0182 a0001c0001t0002g0022 a0001c0001t0002g0027 others(41): Show |
44 | 288 | 0.1528 | 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 | A | ATCTTCTT others(5): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 288 | 0.0035 | 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 | 189272713 | C | CTCCTTCC others(5): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01099.hp2 HG01928.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0052 a0001c0001t0003g0079 a0001c0001t0003g0138 others(3): Show |
6 | 288 | 0.0208 | 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 | 189294802 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0278 | 1 | 288 | 0.0035 | 12 | c.480 others(31): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 4/5 | chr3 | TogoVar | |||||||
TPRG1_chr3_189166971_189330304 | 189312117 | G | GTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 288 | 0.0035 | 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 | 189312131 | T | TTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0115 | 1 | 288 | 0.0035 | 12 | c.633 others(29): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRX1_chr19_47796232_47809551 | 47802285 | T | TGGGCCTG others(5): Show |
disruptive_inframe_insertion | MODERATE | NA19058.hp2 NA19081.hp1 NA19084.hp1 |
a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0021 | 3 | 410 | 0.0073 | 12 | c.879 others(19): Show |
p.Pro others(25): Show |
TPRX1 | ENSG00000178928.9 | transcript | ENST00000698655.1 | protein_coding | 3/3 | 902/1956 | 890/1401 | 297/466 | chr19 | TogoVar | |||
TPR_chr1_186306652_186380253 | 186375993 | A | AGTGTGTG others(5): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0163 | 1 | 408 | 0.0025 | 12 | c.-97 others(21): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 741 | chr1 | TogoVar | |||||||
TPSAB1_chr16_1235705_1247554 | 1241130 | T | TCCTGACC others(5): Show |
splice_region_variant others(1): Show |
LOW | HG03927.hp2 | a0018 | a0018c0014 | a0018c0014t0003 | a0018c0014t0003g0018 | 1 | 290 | 0.0035 | 12 | c.62- others(22): Show |
TPSAB1 | ENSG00000172236.19 | transcript | ENST00000338844.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TPSB2_chr16_1223336_1235184 | 1233264 | T | TTAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 344 | 0.0029 | 12 | c.-31 others(23): Show |
TPSB2 | ENSG00000197253.14 | transcript | ENST00000606293.5 | protein_coding | 3081 | chr16 | TogoVar | |||||||
TPSD1_chr16_1251069_1264008 | 1252656 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 NA19068.hp2 |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0035a0010c0014t0064 | a0001c0001t0035g0001 a0010c0014t0064g0001 |
2 | 270 | 0.0074 | 12 | c.-36 others(23): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 3412 | chr16 | TogoVar | |||||||
TPSD1_chr16_1251069_1264008 | 1253135 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01496.hp1 HG03130.hp1 |
a0004a0005a0009 | a0004c0004a0005c0005a0009c0013 | a0004c0004t0006a0005c0005t0005a0009c0013t0073 | a0004c0004t0006g0002 a0005c0005t0005g0004 a0009c0013t0073g0019 |
3 | 270 | 0.0111 | 12 | c.-31 others(23): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 2933 | chr16 | TogoVar | |||||||
TPSD1_chr16_1251069_1264008 | 1253980 | T | TGAGTCTG others(5): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0003 | a0003c0006 | a0003c0006t0009 | a0003c0006t0009g0007 | 1 | 270 | 0.0037 | 12 | c.-23 others(23): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 2088 | chr16 | TogoVar | |||||||
TPST1_chr7_66200334_66365443 | 66227028 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(2): Show |
5 | 346 | 0.0145 | 12 | c.-10 others(33): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66234400 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01106.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0031 others(14): Show |
17 | 346 | 0.0491 | 12 | c.-10 others(31): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66276365 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01071.hp1 HG01106.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0052 others(6): Show |
9 | 346 | 0.0260 | 12 | c.846 others(31): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66286815 | A | ATTTTGGT others(5): Show |
intron_variant | MODIFIER | NA18975.hp1 NA19000.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041 a0001c0001t0001g0153 a0001c0001t0002g0137 others(1): Show |
4 | 346 | 0.0116 | 12 | c.104 others(29): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66328886 | C | CTCTATAT others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02602.hp2 HG02717.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0005 a0001c0001t0001g0059 a0001c0001t0001g0096 others(1): Show |
4 | 346 | 0.0116 | 12 | c.104 others(33): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66328886 | C | CTCTCTAT others(5): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01361.hp2 HG02083.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0163 others(1): Show |
4 | 346 | 0.0116 | 12 | c.104 others(33): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66328886 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0087 |
2 | 346 | 0.0058 | 12 | c.104 others(33): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66328886 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 346 | 0.0029 | 12 | c.104 others(33): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66328886 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01433.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0077 a0001c0001t0001g0153 |
3 | 346 | 0.0087 | 12 | c.104 others(33): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66328906 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG04228.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0344 |
2 | 346 | 0.0058 | 12 | c.104 others(33): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66328906 | A | ATATATTT others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02897.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0007 | a0001c0001t0001g0080 a0001c0003t0007g0318 |
2 | 346 | 0.0058 | 12 | c.104 others(33): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66328906 | A | ATATTTTT others(5): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0115 |
2 | 346 | 0.0058 | 12 | c.104 others(33): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66354522 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 346 | 0.0029 | 12 | c.109 others(31): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66362669 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01257.hp1 HG01358.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(10): Show |
13 | 346 | 0.0376 | 12 | c.*28 others(23): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 2227 | chr7 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26517169 | T | TTTTATTT others(5): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG01243.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(1): Show | a0001c0001t0001g0102 a0001c0001t0006g0003 a0001c0001t0006g0038 others(15): Show |
19 | 400 | 0.0475 | 12 | c.*91 others(23): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 4826 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26561549 | A | AGTGTTTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(163): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0088 a0001c0001t0001g0107 a0001c0001t0001g0108 others(160): Show |
166 | 400 | 0.4150 | 12 | c.-16 others(33): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26591890 | T | TACACACA others(5): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01175.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0093 others(34): Show |
37 | 400 | 0.0925 | 12 | c.-20 others(23): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1759 | chr22 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19435755 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0127 |
2 | 222 | 0.0090 | 12 | c.111 others(29): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 18/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19437038 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 HG01167.hp1 others(12): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0001c0001t0002a0008c0009t0002 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(12): Show |
15 | 222 | 0.0676 | 12 | c.103 others(29): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 17/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19453538 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02109.hp2 HG02257.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0112 a0001c0001t0001g0213 a0001c0001t0001g0214 others(12): Show |
15 | 222 | 0.0676 | 12 | c.742 others(29): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 13/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19470887 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG04204.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0003 |
2 | 222 | 0.0090 | 12 | c.392 others(29): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 9/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19474078 | A | AAAATAAA others(5): Show |
splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG03225.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0053 a0002c0002t0002g0056 |
2 | 222 | 0.0090 | 12 | c.231 others(24): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 8/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19493317 | G | GTGGATGG others(5): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02055.hp1 HG03486.hp2 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0003c0011t0001 | a0001c0001t0001g0141 a0001c0001t0001g0192 a0003c0011t0001g0126 |
3 | 222 | 0.0135 | 12 | c.65+ others(25): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 5/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19506160 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01361.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0145 a0001c0001t0002g0004 a0001c0001t0002g0010 others(3): Show |
6 | 222 | 0.0270 | 12 | c.-43 others(29): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19514592 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00642.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 others(16): Show |
19 | 222 | 0.0856 | 12 | c.-43 others(31): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19540280 | C | CATTATTA others(5): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02135.hp1 HG02717.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0139 others(4): Show |
7 | 222 | 0.0315 | 12 | c.-44 others(31): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19547720 | C | CATACATA others(5): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0125 | 1 | 222 | 0.0045 | 12 | c.-44 others(29): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19554377 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(73): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(73): Show |
76 | 222 | 0.3423 | 12 | c.-14 others(31): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 2/22 | chr13 | TogoVar | |||||||
TPTE_chr21_10516583_10610716 | 10516922 | G | GTATCTAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01516.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0023 a0001c0001t0004g0007 a0001c0001t0004g0066 others(20): Show |
24 | 209 | 0.1148 | 12 | c.-49 others(23): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4660 | chr21 | TogoVar | |||||||
TPTE_chr21_10516583_10610716 | 10542530 | C | CCCATCCA others(5): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02647.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0006a0001c0003t0002a0001c0012t0002 | a0001c0001t0006g0099 a0001c0003t0002g0103 a0001c0003t0002g0108 others(2): Show |
5 | 209 | 0.0239 | 12 | c.119 others(27): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10592805 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03098.hp1 HG03471.hp1 others(1): Show |
a0001a0005a0008 | a0001c0003a0005c0006a0008c0009 | a0001c0003t0002a0005c0006t0002a0008c0009t0008others(1): Show | a0001c0003t0002g0124 a0005c0006t0002g0138 a0008c0009t0008g0016 others(1): Show |
4 | 209 | 0.0191 | 12 | c.117 others(29): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10599831 | G | GTTAGTTG others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0009 a0001c0003t0002g0121 a0001c0003t0002g0122 others(1): Show |
5 | 209 | 0.0239 | 12 | c.135 others(31): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |