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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRPS1_chr8_115403496_115673975 | 115475266 | TTATATA | T | intron_variant | MODIFIER | HG01071.hp1 HG01975.hp1 HG01993.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0066 a0001c0001t0003g0032 a0001c0001t0003g0034 others(7): Show |
10 | 36 | 0.2778 | -6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115492482 | CGTGCGT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(34): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0135 others(34): Show |
37 | 190 | 0.1947 | -6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115498415 | CTATATA | C | intron_variant | MODIFIER | HG01255.hp2 HG03704.hp2 NA18978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0024others(1): Show | a0001c0001t0001g0100 a0001c0001t0004g0080 a0001c0001t0024g0078 others(1): Show |
4 | 116 | 0.0345 | -6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115499963 | CTTTTCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0033others(4): Show | a0001c0001t0003g0033 a0001c0001t0010g0043 a0001c0001t0033g0012 others(4): Show |
7 | 187 | 0.0374 | -6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115562876 | CTGTGTG | C | intron_variant | MODIFIER | HG01891.hp2 HG03516.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0068a0001c0002t0057a0001c0002t0074others(1): Show | a0001c0001t0068g0120 a0001c0002t0057g0096 a0001c0002t0074g0142 others(1): Show |
4 | 48 | 0.0833 | -6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115565492 | TTTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(142): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(85): Show | a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0068 others(142): Show |
145 | 190 | 0.7632 | -6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115576313 | ATAGATC | A | intron_variant | MODIFIER | HG01167.hp2 HG02280.hp2 HG02647.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0013 | a0001c0001t0028a0001c0001t0087a0001c0002t0014others(4): Show | a0001c0001t0028g0167 a0001c0001t0087g0181 a0001c0002t0014g0188 others(4): Show |
7 | 190 | 0.0368 | -6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115583377 | ATTTACT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(146): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0068 others(146): Show |
149 | 190 | 0.7842 | -6 | c.270 others(25): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115587833 | GACACAC | G | intron_variant | MODIFIER | HG02300.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0062a0001c0001t0093 | a0001c0001t0062g0069 a0001c0001t0093g0182 |
2 | 57 | 0.0351 | -6 | c.209 others(23): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115668717 | AAGAGAG | A | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(105): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0068 others(105): Show |
108 | 188 | 0.5745 | -6 | c.-30 others(15): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 1/7 | 45081 | chr8 | TogoVar | ||||||
TRPV1_chr17_3560446_3614411 | 3560710 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp1 others(16): Show |
a0001 | a0001c0001a0001c0045 | a0001c0001t0008a0001c0001t0014a0001c0045t0014 | a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0305 others(14): Show |
19 | 112 | 0.1696 | -6 | c.*60 others(17): Show |
TRPV1 | ENSG00000196689.13 | transcript | ENST00000572705.2 | protein_coding | 4735 | chr17 | TogoVar | |||||||
TRPV1_chr17_3560446_3614411 | 3584416 | ATAAAAT | A | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01070.hp2 others(11): Show |
a0001a0003a0022 | a0001c0001a0001c0008a0003c0003others(1): Show | a0001c0001t0003a0001c0001t0014a0001c0001t0016others(7): Show | a0001c0001t0003g0207 a0001c0001t0003g0219 a0001c0001t0003g0226 others(11): Show |
14 | 377 | 0.0371 | -6 | c.138 others(23): Show |
TRPV1 | ENSG00000196689.13 | transcript | ENST00000572705.2 | protein_coding | 9/16 | chr17 | TogoVar | |||||||
TRPV1_chr17_3560446_3614411 | 3594154 | AAGCAGC | A | intron_variant | MODIFIER | HG02615.hp1 HG03579.hp2 NA19043.hp1 |
a0001a0022 | a0001c0001a0022c0021 | a0001c0001t0016a0022c0021t0018 | a0001c0001t0016g0376 a0001c0001t0016g0377 a0022c0021t0018g0203 |
3 | 305 | 0.0098 | -6 | c.-33 others(23): Show |
TRPV1 | ENSG00000196689.13 | transcript | ENST00000572705.2 | protein_coding | 2/16 | chr17 | TogoVar | |||||||
TRPV2_chr17_16410571_16442003 | 16413289 | AGTGTGT | A | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01109.hp1 HG01891.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0005others(3): Show | a0001c0001t0003g0003 a0001c0001t0003g0039 a0001c0001t0003g0211 others(6): Show |
9 | 18 | 0.5000 | -6 | c.-26 others(17): Show |
TRPV2 | ENSG00000187688.15 | transcript | ENST00000338560.12 | protein_coding | 2281 | chr17 | TogoVar | |||||||
TRPV2_chr17_16410571_16442003 | 16431282 | TATATAC | T | intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01168.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0086 a0001c0001t0001g0174 a0001c0001t0003g0003 others(2): Show |
5 | 370 | 0.0135 | -6 | c.158 others(23): Show |
TRPV2 | ENSG00000187688.15 | transcript | ENST00000338560.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TRPV2_chr17_16410571_16442003 | 16431287 | ACATATT | A | intron_variant | MODIFIER | HG01884.hp1 HG01934.hp2 HG02622.hp1 others(9): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0013 | a0001c0002t0007a0001c0004t0001a0003c0013t0003 | a0001c0002t0007g0048 a0001c0004t0001g0004 a0001c0004t0001g0099 others(4): Show |
12 | 337 | 0.0356 | -6 | c.158 others(23): Show |
TRPV2 | ENSG00000187688.15 | transcript | ENST00000338560.12 | protein_coding | 10/14 | chr17 | TogoVar | |||||||
TRPV2_chr17_16410571_16442003 | 16431291 | ATTTTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01943.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001 | a0001c0002t0002g0067 a0001c0002t0002g0139 a0001c0002t0002g0146 others(3): Show |
6 | 153 | 0.0392 | -6 | c.158 others(23): Show |
TRPV2 | ENSG00000187688.15 | transcript | ENST00000338560.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TRPV3_chr17_3505502_3562812 | 3560710 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01243.hp2 HG01884.hp1 others(28): Show |
a0001a0006a0007others(1): Show | a0001c0003a0001c0005a0001c0010others(7): Show | a0001c0003t0005a0001c0005t0002a0001c0005t0003others(16): Show | a0001c0003t0005g0173 a0001c0005t0002g0152 a0001c0005t0002g0154 others(27): Show |
31 | 133 | 0.2331 | -6 | c.-30 others(17): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 2899 | chr17 | TogoVar | |||||||
TRPV4_chr12_109778089_109838398 | 109806867 | AAAAAAG | A | intron_variant | MODIFIER | HG02015.hp2 HG02132.hp1 HG02165.hp1 others(17): Show |
a0001a0002a0006others(1): Show | a0001c0005a0001c0020a0002c0006others(4): Show | a0001c0005t0001a0001c0020t0001a0002c0006t0001others(4): Show | a0001c0005t0001g0029 a0001c0020t0001g0160 a0002c0006t0001g0004 others(14): Show |
20 | 342 | 0.0585 | -6 | c.559 others(23): Show |
TRPV4 | ENSG00000111199.12 | transcript | ENST00000261740.7 | protein_coding | 3/15 | chr12 | TogoVar | |||||||
TRPV6_chr7_142866208_142890745 | 142872763 | TTATAAA | T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 a0001c0002t0001g0037 a0001c0002t0001g0038 |
5 | 264 | 0.0189 | -6 | c.190 others(23): Show |
TRPV6 | ENSG00000165125.22 | transcript | ENST00000359396.9 | protein_coding | 13/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98953031 | TTGTGTG | T | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01884.hp1 others(26): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0002g0195 a0001c0001t0002g0208 a0001c0001t0005g0160 others(25): Show |
29 | 84 | 0.3452 | -6 | c.546 others(21): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 39/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98953075 | GTGTGTT | G | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01169.hp2 others(7): Show |
a0001 | a0001c0003a0001c0023 | a0001c0003t0002a0001c0023t0002 | a0001c0003t0002g0003 a0001c0003t0002g0198 a0001c0003t0002g0199 others(6): Show |
10 | 259 | 0.0386 | -6 | c.546 others(21): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 39/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 99005673 | ATTTCTT | A | intron_variant | MODIFIER | HG02622.hp2 HG03471.hp2 NA19043.hp1 |
a0001a0008 | a0001c0004a0008c0042 | a0001c0004t0002a0008c0042t0002 | a0001c0004t0002g0183 a0001c0004t0002g0185 a0008c0042t0002g0184 |
3 | 260 | 0.0115 | -6 | c.107 others(25): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 69/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TSBP1_chr6_32287698_32376903 | 32301959 | AATCATC | A | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00642.hp2 others(30): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0008a0002c0002t0010a0004c0004t0001others(3): Show | a0001c0001t0008g0019 a0001c0001t0008g0254 a0001c0001t0008g0255 others(25): Show |
33 | 317 | 0.1041 | -6 | c.595 others(21): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 23/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32308611 | AAAAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(57): Show |
a0003a0006a0010others(1): Show | a0003c0003a0006c0006a0010c0010others(1): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0004others(7): Show | a0003c0003t0001g0005 a0003c0003t0001g0006 a0003c0003t0001g0054 others(49): Show |
60 | 420 | 0.1429 | -6 | c.575 others(23): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 22/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32308612 | AAAAATT | A | intron_variant | MODIFIER | HG01192.hp1 HG01358.hp1 HG03017.hp2 others(23): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0003 | a0003c0003t0001g0002 a0003c0003t0001g0010 a0003c0003t0001g0049 others(14): Show |
26 | 417 | 0.0624 | -6 | c.575 others(23): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 22/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32322418 | TTAGAAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00673.hp2 others(15): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0003 | a0003c0003t0001g0005 a0003c0003t0001g0006 a0003c0003t0001g0070 others(11): Show |
18 | 420 | 0.0429 | -6 | c.532 others(19): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 20/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32330635 | AACACAC | A | intron_variant | MODIFIER | HG00438.hp1 HG02055.hp1 HG02132.hp2 others(16): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0002c0002t0003a0002c0002t0009others(1): Show | a0002c0002t0001g0149 a0002c0002t0003g0316 a0002c0002t0003g0317 others(16): Show |
19 | 146 | 0.1301 | -6 | c.446 others(19): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 16/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32344258 | CCCCCCA | C | intron_variant | MODIFIER | HG02135.hp2 HG02572.hp1 HG03669.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0015others(4): Show | a0001c0001t0002a0002c0002t0001a0002c0015t0001others(5): Show | a0001c0001t0002g0190 a0002c0002t0001g0003 a0002c0002t0001g0125 others(8): Show |
11 | 420 | 0.0262 | -6 | c.281 others(23): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 9/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32358910 | TTTATTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(164): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0002a0006c0006others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0002g0008 a0001c0001t0002g0045 a0001c0001t0002g0046 others(155): Show |
167 | 211 | 0.7915 | -6 | c.218 others(23): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 6/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32370407 | GTATATA | G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01074.hp2 others(7): Show |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0001a0005c0005t0001a0005c0005t0004 | a0003c0003t0001g0053 a0005c0005t0001g0101 a0005c0005t0001g0198 others(4): Show |
10 | 101 | 0.0990 | -6 | c.14- others(19): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 1/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32374240 | CTGTGTG | C | upstream_gene_variant | MODIFIER | HG02145.hp2 HG03453.hp2 HG03654.hp2 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0008a0003c0003t0001a0004c0004t0001others(2): Show | a0001c0001t0008g0246 a0001c0001t0008g0252 a0003c0003t0001g0054 others(4): Show |
7 | 38 | 0.1842 | -6 | c.-25 others(17): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 2338 | chr6 | TogoVar | |||||||
TSC1_chr9_132886349_132949616 | 132911625 | TAAAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(27): Show |
a0002a0006 | a0002c0002a0002c0009a0002c0013others(1): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0012others(19): Show | a0002c0002t0003g0253 a0002c0002t0003g0254 a0002c0002t0005g0261 others(27): Show |
30 | 64 | 0.4688 | -6 | c.914 others(19): Show |
TSC1 | ENSG00000165699.15 | transcript | ENST00000298552.9 | protein_coding | 9/22 | chr9 | TogoVar | |||||||
TSC1_chr9_132886349_132949616 | 132947425 | AAAAAAG | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(31): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0239 a0001c0001t0002g0238 a0001c0001t0003g0295 others(31): Show |
34 | 334 | 0.1018 | -6 | c.-30 others(17): Show |
TSC1 | ENSG00000165699.15 | transcript | ENST00000298552.9 | protein_coding | 2810 | chr9 | TogoVar | |||||||
TSC1_chr9_132886349_132949616 | 132949268 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01981.hp1 HG02074.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0136 a0001c0001t0001g0173 others(17): Show |
21 | 91 | 0.2308 | -6 | c.-48 others(17): Show |
TSC1 | ENSG00000165699.15 | transcript | ENST00000298552.9 | protein_coding | 4653 | chr9 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517811 | ATGTGTG | A | intron_variant | MODIFIER | HG01978.hp2 HG02735.hp1 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0190 a0001c0001t0001g0196 others(3): Show |
6 | 220 | 0.0273 | -6 | c.291 others(27): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44551389 | GGTGTGT | G | intron_variant | MODIFIER | HG00639.hp2 HG01975.hp1 HG02056.hp1 others(22): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0004 | a0001c0001t0001g0050 a0001c0001t0001g0161 a0001c0001t0001g0162 others(22): Show |
25 | 108 | 0.2315 | -6 | c.291 others(27): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D2_chr3_150403298_150471422 | 150445316 | AAATAAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(117): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(40): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(91): Show |
120 | 195 | 0.6154 | -6 | c.195 others(27): Show |
TSC22D2 | ENSG00000196428.13 | transcript | ENST00000688009.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TSC22D2_chr3_150403298_150471422 | 150466191 | TCACACA | T | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(86): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0021others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(66): Show |
89 | 235 | 0.3787 | -6 | c.*75 others(17): Show |
TSC22D2 | ENSG00000196428.13 | transcript | ENST00000688009.1 | protein_coding | 3/3 | 7586 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TSC22D3_chrX_107708221_107780787 | 107742275 | GAGAGAA | G | intron_variant | MODIFIER | HG02559.hp1 NA18969.hp1 NA18969.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0056 a0001c0001t0001g0142 a0001c0001t0001g0158 others(1): Show |
4 | 214 | 0.0187 | -6 | c.321 others(25): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107742281 | AAGAGAG | A | intron_variant | MODIFIER | HG00735.hp1 HG02027.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0070 a0001c0001t0001g0071 others(5): Show |
8 | 107 | 0.0748 | -6 | c.321 others(25): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107749178 | TACACAC | T | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp1 HG01258.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(51): Show |
64 | 77 | 0.8312 | -6 | c.320 others(25): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100478350 | AGTGTGT | A | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01175.hp1 others(15): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0111 others(10): Show |
18 | 106 | 0.1698 | -6 | c.-26 others(21): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
TSC2_chr16_2042985_2094491 | 2088881 | GCACACA | G | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG03239.hp1 HG03239.hp2 others(5): Show |
a0001a0018 | a0001c0001a0018c0044 | a0001c0001t0008a0001c0001t0028a0018c0044t0008 | a0001c0001t0008g0070 a0001c0001t0008g0095 a0001c0001t0008g0123 others(5): Show |
8 | 205 | 0.0390 | -6 | c.*28 others(15): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 42/42 | 284 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TSEN2_chr3_12479480_12538658 | 12516437 | ACAAAAT | A | intron_variant | MODIFIER | NA18939.hp2 NA18949.hp1 NA18966.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0073 others(6): Show |
9 | 261 | 0.0345 | -6 | c.910 others(21): Show |
TSEN2 | ENSG00000154743.19 | transcript | ENST00000284995.11 | protein_coding | 6/11 | chr3 | TogoVar | |||||||
TSEN2_chr3_12479480_12538658 | 12516442 | ATATATG | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01243.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0014 a0001c0001t0002g0062 a0001c0001t0002g0063 others(23): Show |
27 | 253 | 0.1067 | -6 | c.910 others(21): Show |
TSEN2 | ENSG00000154743.19 | transcript | ENST00000284995.11 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TSEN2_chr3_12479480_12538658 | 12516446 | ATGTGTG | A | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG02717.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0002 | a0001c0001t0001a0001c0010t0001a0003c0002t0003 | a0001c0001t0001g0019 a0001c0010t0001g0152 a0003c0002t0003g0024 others(1): Show |
5 | 93 | 0.0538 | -6 | c.910 others(21): Show |
TSEN2 | ENSG00000154743.19 | transcript | ENST00000284995.11 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TSEN34_chr19_54186308_54199532 | 54195961 | TTTTTTG | T | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG02129.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0001a0001c0003t0004 | a0001c0001t0005g0005 a0001c0002t0001g0001 a0001c0003t0004g0006 |
8 | 430 | 0.0186 | -6 | c.*26 others(17): Show |
TSEN34 | ENSG00000170892.13 | transcript | ENST00000396388.3 | protein_coding | 1430 | chr19 | TogoVar | |||||||
TSG101_chr11_18475311_18531942 | 18487246 | AAAACTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(52): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0001g0062 others(51): Show |
55 | 404 | 0.1361 | -6 | c.641 others(23): Show |
TSG101 | ENSG00000074319.13 | transcript | ENST00000251968.4 | protein_coding | 7/9 | chr11 | TogoVar | |||||||
TSG101_chr11_18475311_18531942 | 18499300 | TTATATA | T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(144): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(140): Show |
147 | 404 | 0.3639 | -6 | c.640 others(23): Show |
TSG101 | ENSG00000074319.13 | transcript | ENST00000251968.4 | protein_coding | 7/9 | chr11 | TogoVar |