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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRPM8_chr2_233912373_234024522 | 233927860 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01978.hp1 HG02148.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0003a0001c0004t0004a0001c0004t0005others(2): Show | a0001c0001t0003g0263 a0001c0004t0004g0250 a0001c0004t0005g0284 others(2): Show |
5 | 247 | 0.0202 | 8 | c.117 others(25): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPM8_chr2_233912373_234024522 | 233978198 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00673.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(11): Show | a0001c0001t0001g0246 a0001c0001t0001g0278 a0001c0001t0001g0295 others(13): Show |
16 | 65 | 0.2462 | 8 | c.235 others(27): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPM8_chr2_233912373_234024522 | 234000086 | G | GATTTATT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0066 a0001c0001t0001g0246 a0001c0001t0001g0268 others(110): Show |
114 | 119 | 0.9580 | 8 | c.313 others(27): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPM8_chr2_233912373_234024522 | 234005927 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01361.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(18): Show | a0001c0001t0003g0218 a0001c0001t0003g0225 a0001c0001t0004g0062 others(23): Show |
26 | 99 | 0.2626 | 8 | c.313 others(25): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPM8_chr2_233912373_234024522 | 234018845 | A | AAAATAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(98): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0023others(28): Show | a0001c0001t0001g0066 a0001c0001t0001g0088 a0001c0001t0001g0221 others(97): Show |
101 | 153 | 0.6601 | 8 | c.*16 others(19): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 26/26 | 4271 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRPS1_chr8_115403496_115673975 | 115408370 | G | GTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01109.hp1 others(11): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0086 a0001c0001t0002g0156 a0001c0001t0004g0101 others(11): Show |
14 | 34 | 0.4118 | 8 | c.*56 others(19): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 125 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115408424 | A | ATATATAT others(1): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0070 a0001c0001t0008g0072 |
2 | 190 | 0.0105 | 8 | c.*55 others(19): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 71 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115409261 | G | GAAAAAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(72): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0135 others(72): Show |
75 | 98 | 0.7653 | 8 | c.*47 others(19): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 7/7 | 4761 | chr8 | TogoVar | ||||||
TRPS1_chr8_115403496_115673975 | 115435998 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02622.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0079a0001c0001t0082 | a0001c0001t0002g0156 a0001c0001t0079g0172 a0001c0001t0082g0170 |
3 | 70 | 0.0429 | 8 | c.270 others(29): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115442550 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02922.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0012 | a0001c0002t0002g0153 a0001c0002t0012g0117 |
2 | 115 | 0.0174 | 8 | c.270 others(29): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115449956 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01167.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(10): Show | a0001c0001t0003g0010 a0001c0001t0006g0115 a0001c0001t0014g0184 others(10): Show |
13 | 14 | 0.9286 | 8 | c.270 others(29): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115475266 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01257.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0024a0001c0001t0033others(1): Show | a0001c0001t0015g0041 a0001c0001t0024g0078 a0001c0001t0033g0012 others(1): Show |
4 | 30 | 0.1333 | 8 | c.270 others(29): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115498373 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02559.hp1 HG03491.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0010a0001c0001t0014others(3): Show | a0001c0001t0003g0026 a0001c0001t0003g0040 a0001c0001t0010g0004 others(4): Show |
7 | 139 | 0.0504 | 8 | c.270 others(29): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115499915 | A | ATTTCTTT others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02615.hp1 NA19070.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0077a0001c0002t0025 | a0001c0001t0007g0042 a0001c0001t0077g0126 a0001c0002t0025g0162 |
3 | 144 | 0.0208 | 8 | c.270 others(29): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115546581 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(73): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0068 others(73): Show |
76 | 119 | 0.6387 | 8 | c.270 others(29): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115562876 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01192.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(1): Show | a0001c0001t0001g0086 a0001c0001t0003g0027 a0001c0001t0003g0048 others(3): Show |
6 | 50 | 0.1200 | 8 | c.270 others(29): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPT1_chr11_64218816_64231186 | 64222240 | C | CAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01258.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 75 | 0.0400 | 8 | c.*16 others(19): Show |
TRPT1 | ENSG00000149743.14 | transcript | ENST00000317459.11 | protein_coding | 1575 | chr11 | TogoVar | |||||||
TRPV1_chr17_3560446_3614411 | 3576690 | T | TATATATG others(1): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03209.hp2 HG03239.hp2 others(3): Show |
a0001 | a0001c0008a0001c0014 | a0001c0008t0003a0001c0008t0020a0001c0014t0003others(1): Show | a0001c0008t0003g0231 a0001c0008t0020g0230 a0001c0008t0020g0233 others(3): Show |
6 | 379 | 0.0158 | 8 | c.178 others(25): Show |
TRPV1 | ENSG00000196689.13 | transcript | ENST00000572705.2 | protein_coding | 13/16 | chr17 | TogoVar | |||||||
TRPV3_chr17_3505502_3562812 | 3519324 | T | TTGGATGG others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG02486.hp1 others(13): Show |
a0001a0005a0006others(4): Show | a0001c0003a0001c0010a0001c0021others(9): Show | a0001c0003t0006a0001c0010t0003a0001c0010t0017others(11): Show | a0001c0003t0006g0394 a0001c0010t0003g0151 a0001c0010t0003g0179 others(13): Show |
16 | 291 | 0.0550 | 8 | c.181 others(25): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 14/17 | chr17 | TogoVar | |||||||
TRPV3_chr17_3505502_3562812 | 3519368 | G | GGATGATT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00639.hp2 others(76): Show |
a0001a0002a0007others(4): Show | a0001c0002a0001c0008a0001c0029others(15): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(34): Show | a0001c0002t0001g0085 a0001c0002t0001g0101 a0001c0002t0001g0121 others(76): Show |
79 | 402 | 0.1965 | 8 | c.181 others(25): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 14/17 | chr17 | TogoVar | |||||||
TRPV3_chr17_3505502_3562812 | 3519422 | T | TTGGATGG others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02647.hp1 others(6): Show |
a0001a0005a0006others(2): Show | a0001c0003a0001c0010a0001c0027others(5): Show | a0001c0003t0021a0001c0010t0002a0001c0010t0016others(6): Show | a0001c0003t0021g0203 a0001c0010t0002g0158 a0001c0010t0016g0170 others(6): Show |
9 | 133 | 0.0677 | 8 | c.181 others(25): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 14/17 | chr17 | TogoVar | |||||||
TRPV3_chr17_3505502_3562812 | 3519602 | C | CTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01243.hp2 others(30): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0005a0001c0023others(12): Show | a0001c0001t0007a0001c0001t0012a0001c0001t0027others(16): Show | a0001c0001t0007g0029 a0001c0001t0007g0091 a0001c0001t0007g0111 others(30): Show |
33 | 67 | 0.4925 | 8 | c.181 others(25): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 14/17 | chr17 | TogoVar | |||||||
TRPV3_chr17_3505502_3562812 | 3519850 | C | CTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(116): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(45): Show | a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0049 others(115): Show |
119 | 162 | 0.7346 | 8 | c.181 others(27): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 14/17 | chr17 | TogoVar | |||||||
TRPV3_chr17_3505502_3562812 | 3523893 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01243.hp2 others(13): Show |
a0001a0007a0008 | a0001c0005a0001c0010a0001c0023others(2): Show | a0001c0005t0002a0001c0005t0019a0001c0010t0002others(4): Show | a0001c0005t0002g0152 a0001c0005t0002g0154 a0001c0005t0002g0157 others(13): Show |
16 | 392 | 0.0408 | 8 | c.174 others(25): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 13/17 | chr17 | TogoVar | |||||||
TRPV3_chr17_3505502_3562812 | 3540060 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02451.hp1 others(17): Show |
a0005a0008a0016 | a0005c0015a0005c0030a0005c0037others(10): Show | a0005c0015t0002a0005c0015t0006a0005c0015t0008others(16): Show | a0005c0015t0002g0400 a0005c0015t0006g0280 a0005c0015t0008g0275 others(17): Show |
20 | 386 | 0.0518 | 8 | c.643 others(25): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 6/17 | chr17 | TogoVar | |||||||
TRPV3_chr17_3505502_3562812 | 3549701 | T | TGATGGAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(103): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(35): Show | a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0001g0043 others(103): Show |
106 | 387 | 0.2739 | 8 | c.120 others(25): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 2/17 | chr17 | TogoVar | |||||||
TRPV4_chr12_109778089_109838398 | 109784860 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02976.hp2 HG03453.hp1 others(4): Show |
a0001 | a0001c0005a0001c0009a0001c0030 | a0001c0005t0001a0001c0009t0001a0001c0030t0001 | a0001c0005t0001g0074 a0001c0005t0001g0085 a0001c0005t0001g0086 others(4): Show |
7 | 90 | 0.0778 | 8 | c.233 others(25): Show |
TRPV4 | ENSG00000111199.12 | transcript | ENST00000261740.7 | protein_coding | 14/15 | chr12 | TogoVar | |||||||
TRPV4_chr12_109778089_109838398 | 109820514 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00673.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0002t0001a0003c0007t0001 | a0001c0001t0001g0021 a0001c0001t0001g0132 a0001c0001t0001g0211 others(20): Show |
24 | 262 | 0.0916 | 8 | c.-31 others(25): Show |
TRPV4 | ENSG00000111199.12 | transcript | ENST00000261740.7 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
TRPV5_chr7_142903101_142938746 | 142912837 | G | GATCTATC others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp2 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0017 others(43): Show |
67 | 101 | 0.6634 | 8 | c.152 others(23): Show |
TRPV5 | ENSG00000127412.7 | transcript | ENST00000265310.6 | protein_coding | 12/14 | chr7 | TogoVar | |||||||
TRPV5_chr7_142903101_142938746 | 142924355 | C | CATGTATA others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02630.hp2 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0003 a0002c0003t0002g0023 a0002c0003t0002g0060 others(2): Show |
10 | 252 | 0.0397 | 8 | c.112 others(27): Show |
TRPV5 | ENSG00000127412.7 | transcript | ENST00000265310.6 | protein_coding | 8/14 | chr7 | TogoVar | |||||||
TRPV6_chr7_142866208_142890745 | 142878679 | G | GTTCATTC others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02040.hp1 HG02165.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 a0001c0002t0001g0029 a0001c0002t0001g0041 others(1): Show |
10 | 70 | 0.1429 | 8 | c.249 others(23): Show |
TRPV6 | ENSG00000165125.22 | transcript | ENST00000359396.9 | protein_coding | 1/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
TRPV6_chr7_142866208_142890745 | 142889708 | G | GGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG01952.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0064 |
6 | 22 | 0.2727 | 8 | c.-40 others(19): Show |
TRPV6 | ENSG00000165125.22 | transcript | ENST00000359396.9 | protein_coding | 3964 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98906402 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18969.hp1 NA19009.hp1 others(5): Show |
a0001a0011a0013 | a0001c0001a0001c0014a0011c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0241 a0001c0001t0002g0010 a0001c0001t0002g0220 others(5): Show |
8 | 70 | 0.1143 | 8 | c.111 others(25): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 13/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98951059 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01261.hp2 others(15): Show |
a0001 | a0001c0001a0001c0007a0001c0046 | a0001c0001t0001a0001c0007t0001a0001c0046t0001 | a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 others(15): Show |
18 | 80 | 0.2250 | 8 | c.546 others(23): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 39/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98997483 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01099.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0240 a0001c0001t0002g0211 a0001c0001t0002g0212 others(13): Show |
16 | 77 | 0.2078 | 8 | c.103 others(29): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 67/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRUB1_chr10_114933195_114982676 | 114968540 | T | TAAACATT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0004g0088 a0001c0001t0004g0093 a0001c0001t0007g0051 others(6): Show |
10 | 236 | 0.0424 | 8 | c.524 others(25): Show |
TRUB1 | ENSG00000165832.6 | transcript | ENST00000298746.5 | protein_coding | 4/7 | chr10 | TogoVar | |||||||
TRUB1_chr10_114933195_114982676 | 114982533 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02630.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0002c0002t0011 | a0001c0001t0002g0012 a0001c0001t0002g0035 a0001c0001t0002g0038 others(11): Show |
16 | 103 | 0.1553 | 8 | c.*71 others(19): Show |
TRUB1 | ENSG00000165832.6 | transcript | ENST00000298746.5 | protein_coding | 4858 | chr10 | TogoVar | |||||||
TRUB2_chr9_128300159_128327447 | 128302069 | C | CTGTTTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 HG02074.hp1 HG02132.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0045others(3): Show | a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0004g0002 others(10): Show |
20 | 361 | 0.0554 | 8 | c.*74 others(19): Show |
TRUB2 | ENSG00000167112.10 | transcript | ENST00000372890.6 | protein_coding | 3089 | chr9 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32295334 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 HG03831.hp1 |
a0009 | a0009c0009 | a0009c0009t0003 | a0009c0009t0003g0321 a0009c0009t0003g0322 a0009c0009t0003g0323 |
3 | 382 | 0.0079 | 8 | c.632 others(25): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 25/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32308597 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01081.hp1 others(11): Show |
a0007 | a0007c0007 | a0007c0007t0001a0007c0007t0004 | a0007c0007t0001g0012 a0007c0007t0001g0013 a0007c0007t0001g0137 others(9): Show |
14 | 212 | 0.0660 | 8 | c.575 others(25): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 22/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32310761 | A | ATATATTT others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03831.hp2 NA18988.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 |
3 | 325 | 0.0092 | 8 | c.574 others(25): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 22/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32310761 | A | ATATTTTT others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG02965.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004 | a0003c0003t0001g0054 a0003c0003t0004g0022 a0003c0003t0004g0259 others(2): Show |
6 | 328 | 0.0183 | 8 | c.574 others(25): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 22/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32330635 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00673.hp2 others(16): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0008a0003c0003t0001others(5): Show | a0001c0001t0002g0090 a0001c0001t0008g0250 a0003c0003t0001g0071 others(15): Show |
19 | 146 | 0.1301 | 8 | c.446 others(21): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 16/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32370405 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01070.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 others(21): Show |
26 | 392 | 0.0663 | 8 | c.14- others(21): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 1/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32370407 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG04228.hp2 NA18954.hp1 NA18994.hp1 others(1): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0002c0002t0003a0005c0005t0001 | a0002c0002t0001g0131 a0002c0002t0003g0313 a0005c0005t0001g0153 others(1): Show |
4 | 95 | 0.0421 | 8 | c.14- others(21): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 1/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32370855 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02976.hp1 NA18946.hp2 others(10): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0003a0002c0002t0009others(1): Show | a0002c0002t0001g0149 a0002c0002t0003g0316 a0002c0002t0003g0317 others(10): Show |
13 | 61 | 0.2131 | 8 | c.13+ others(21): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 1/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32374240 | C | CTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG01256.hp2 others(1): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0002a0002c0002t0001a0006c0006t0004 | a0001c0001t0002g0087 a0001c0001t0002g0088 a0002c0002t0001g0114 others(1): Show |
4 | 35 | 0.1143 | 8 | c.-25 others(19): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 2338 | chr6 | TogoVar | |||||||
TSC1_chr9_132886349_132949616 | 132887134 | T | TGTCTATC others(1): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 HG02293.hp1 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0001g0151 a0001c0001t0001g0153 others(1): Show |
4 | 333 | 0.0120 | 8 | c.*91 others(19): Show |
TSC1 | ENSG00000165699.15 | transcript | ENST00000298552.9 | protein_coding | 4214 | chr9 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44454562 | T | TTTACTAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01928.hp2 others(15): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0003a0001c0005t0004a0001c0006t0006others(6): Show | a0001c0001t0003g0036 a0001c0005t0004g0238 a0001c0005t0004g0240 others(15): Show |
18 | 238 | 0.0756 | 8 | c.291 others(29): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44465979 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01943.hp2 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0014a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0014t0003others(4): Show | a0001c0001t0001g0159 a0001c0001t0003g0036 a0001c0014t0003g0229 others(10): Show |
13 | 16 | 0.8125 | 8 | c.291 others(29): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar |