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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAG3_chr10_119646380_119682819 | 119675840 | C | CTCCTTCC others(38): Show |
intron_variant | MODIFIER | NA18955.hp2 NA19084.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0058 a0002c0003t0002g0072 |
2 | 267 | 0.0075 | 45 | c.910 others(60): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAIAP3_chr16_1328645_1354439 | 1345536 | C | CCAGCCTC others(38): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 354 | 0.0028 | 45 | c.206 others(62): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 22/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BAIAP3_chr16_1328645_1354439 | 1345572 | T | TCCGCCTC others(38): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01981.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0023 | a0001c0002t0002g0159 a0001c0002t0023g0077 |
2 | 354 | 0.0056 | 45 | c.206 others(62): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 22/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88054276 | T | TACCACTG others(38): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0292 | 1 | 350 | 0.0029 | 45 | c.131 others(66): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107591656 | A | ACACACAC others(38): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 203 | 0.0049 | 45 | c.194 others(62): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107591657 | C | CACACACA others(38): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0325 |
2 | 393 | 0.0051 | 45 | c.194 others(62): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 3/7 | chr7 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 61045966 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02965.hp2 |
a0002a0003 | a0002c0006a0003c0010 | a0002c0006t0002a0003c0010t0002 | a0002c0006t0002g0027 a0003c0010t0002g0023 |
2 | 61 | 0.0328 | 45 | c.202 others(64): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24837146 | A | AAGGAAGA others(38): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0038 | 1 | 219 | 0.0046 | 45 | c.818 others(60): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467597 | G | GTGGTGGT others(38): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01123.hp1 HG01361.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0093 a0001c0001t0003g0175 a0001c0001t0004g0077 others(3): Show |
6 | 212 | 0.0283 | 45 | c.487 others(62): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(38): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0105 | 1 | 219 | 0.0046 | 45 | c.-43 others(56): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117103 | T | TATATATA others(38): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0047 | 1 | 440 | 0.0023 | 45 | c.-43 others(56): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4329 | chr15 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17717380 | C | CAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0006 | a0004c0006t0062 | a0004c0006t0062g0095 | 1 | 211 | 0.0047 | 45 | c.601 others(62): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133424413 | C | CTTTTTCA others(38): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 273 | 0.0037 | 45 | c.490 others(64): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32192430 | T | TTAAATAA others(38): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03195.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0016others(1): Show | a0001c0001t0007g0025 a0001c0001t0015g0042 a0001c0001t0016g0041 others(1): Show |
4 | 203 | 0.0197 | 45 | c.214 others(64): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42857614 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0210 | 1 | 181 | 0.0055 | 45 | c.225 others(62): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127105467 | C | CCCTCCTC others(38): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01081.hp1 HG01943.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 others(4): Show |
7 | 134 | 0.0522 | 45 | c.84+ others(60): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276304 | A | ATCTCCCT others(38): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0202 | 1 | 373 | 0.0027 | 45 | c.398 others(60): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276375 | G | GTCTCCCT others(38): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0140 |
2 | 357 | 0.0056 | 45 | c.398 others(60): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276388 | G | GTCTCCCT others(38): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02965.hp2 HG02976.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0013 | a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0013g0196 |
3 | 326 | 0.0092 | 45 | c.398 others(60): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113260721 | A | AAGAACAG others(38): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01175.hp2 HG02273.hp1 others(10): Show |
a0001a0008 | a0001c0002a0001c0015a0008c0033 | a0001c0002t0002a0001c0002t0003a0001c0002t0018others(4): Show | a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0240 others(9): Show |
13 | 188 | 0.0691 | 45 | c.377 others(62): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113260721 | A | ACAGAAAG others(38): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp2 others(7): Show |
a0001 | a0001c0002a0001c0010a0001c0022 | a0001c0002t0001a0001c0002t0002a0001c0002t0014others(5): Show | a0001c0002t0001g0296 a0001c0002t0002g0169 a0001c0002t0002g0343 others(7): Show |
10 | 185 | 0.0541 | 45 | c.377 others(62): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113260721 | A | ACAGAACA others(38): Show |
intron_variant | MODIFIER | HG00597.hp1 HG03017.hp2 NA18981.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0008t0005 | a0001c0002t0002g0024 a0001c0008t0005g0103 a0001c0008t0005g0339 |
3 | 178 | 0.0169 | 45 | c.377 others(62): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144277805 | G | GGGCAGGG others(38): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(160): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0003a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(145): Show |
163 | 364 | 0.4478 | 45 | c.310 others(62): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144277820 | G | GGGCAGGG others(38): Show |
intron_variant | MODIFIER | HG03017.hp2 HG04199.hp1 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0342 a0001c0001t0001g0353 |
3 | 127 | 0.0236 | 45 | c.310 others(62): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424574 | T | TTTCTTCT others(38): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0029 | 1 | 371 | 0.0027 | 45 | c.121 others(64): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32428605 | A | ATGAGTCC others(38): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 420 | 0.0024 | 45 | c.121 others(64): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43129676 | G | GCGTTAGC others(38): Show |
upstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 274 | 0.0036 | 45 | c.-44 others(56): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 4313 | chr17 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1429975 | G | GTCTGGTC others(38): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0196 | 1 | 355 | 0.0028 | 45 | c.92- others(60): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1430778 | G | GTCTGGTC others(38): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0227 | 1 | 356 | 0.0028 | 45 | c.92- others(60): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1431109 | G | GTCTGGTC others(38): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02257.hp2 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0027a0003c0011t0037 | a0001c0001t0027g0119 a0003c0011t0037g0290 |
2 | 349 | 0.0057 | 45 | c.92- others(60): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1431769 | G | GTCTGGTC others(38): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0006 | a0001c0006t0027 | a0001c0006t0027g0145 | 1 | 345 | 0.0029 | 45 | c.92- others(60): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1431912 | G | GTCTGGTC others(38): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02055.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0059 | a0001c0001t0001g0013 a0001c0001t0003g0223 a0001c0001t0059g0043 |
3 | 346 | 0.0087 | 45 | c.92- others(60): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1432243 | G | GTCTGGTC others(38): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 334 | 0.0030 | 45 | c.92- others(60): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1454158 | G | GGGGGGGC others(38): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18971.hp1 |
a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0056 a0001c0003t0026g0351 |
2 | 221 | 0.0090 | 45 | c.154 others(62): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80813585 | C | CACTTGTA others(38): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 263 | 0.0038 | 45 | c.-41 others(56): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 3709 | chrX | TogoVar | |||||||
BSG_chr19_567596_588493 | 585271 | G | GTGTCCGC others(38): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0095 | 1 | 304 | 0.0033 | 45 | c.*25 others(56): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1779 | chr19 | TogoVar | |||||||
BZW2_chr7_16641181_16711517 | 16710693 | G | GGAAGGAA others(38): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0326 a0001c0001t0002g0330 |
2 | 416 | 0.0048 | 45 | c.*46 others(56): Show |
BZW2 | ENSG00000136261.16 | transcript | ENST00000258761.8 | protein_coding | 4177 | chr7 | TogoVar | |||||||
C11orf71_chr11_114393532_114405511 | 114394228 | C | CTTTTCTT others(38): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 214 | 0.0047 | 45 | c.*57 others(56): Show |
C11orf71 | ENSG00000180425.11 | transcript | ENST00000623205.2 | protein_coding | 4303 | chr11 | TogoVar | |||||||
C11orf71_chr11_114393532_114405511 | 114394228 | C | CTTTTCTT others(38): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 NA18941.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 2 | 215 | 0.0093 | 45 | c.*57 others(56): Show |
C11orf71 | ENSG00000180425.11 | transcript | ENST00000623205.2 | protein_coding | 4303 | chr11 | TogoVar | |||||||
C12orf40_chr12_39621183_39726914 | 39653558 | T | TTCTTCTT others(38): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 127 | 0.0079 | 45 | c.686 others(62): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39653558 | T | TTCTTCTT others(38): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01169.hp1 HG02071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0179 a0001c0001t0001g0180 |
3 | 129 | 0.0233 | 45 | c.686 others(62): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39653558 | T | TTCTTCTT others(38): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01255.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0085 others(11): Show |
16 | 142 | 0.1127 | 45 | c.686 others(62): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39653558 | T | TTCTTCTT others(38): Show |
intron_variant | MODIFIER | HG02698.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0186 |
2 | 128 | 0.0156 | 45 | c.686 others(62): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39653558 | T | TTTTTCTT others(38): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0336 | 1 | 127 | 0.0079 | 45 | c.686 others(62): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C17orf78_chr17_37370985_37397708 | 37390242 | T | TATATATA others(38): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 432 | 0.0023 | 45 | c.750 others(60): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | chr17 | TogoVar | |||||||
C17orf78_chr17_37370985_37397708 | 37390304 | T | TTATATAT others(38): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18952.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 2 | 283 | 0.0071 | 45 | c.750 others(60): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C17orf78_chr17_37370985_37397708 | 37390304 | T | TTTTATAT others(38): Show |
intron_variant | MODIFIER | HG01106.hp2 NA18977.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0118 a0001c0001t0001g0226 |
3 | 284 | 0.0106 | 45 | c.750 others(60): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C18orf63_chr18_74310839_74364189 | 74361661 | A | ATTATATA others(38): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 NA19062.hp2 NA19082.hp1 |
a0002 | a0002c0003 | a0002c0003t0005a0002c0003t0017 | a0002c0003t0005g0008 a0002c0003t0017g0042 |
3 | 370 | 0.0081 | 45 | c.*52 others(56): Show |
C18orf63 | ENSG00000206043.7 | transcript | ENST00000579455.2 | protein_coding | 2473 | chr18 | TogoVar | |||||||
C18orf63_chr18_74310839_74364189 | 74361702 | T | TTATAATT others(38): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0040 a0001c0001t0007g0057 a0001c0001t0007g0109 others(1): Show |
4 | 336 | 0.0119 | 45 | c.*52 others(56): Show |
C18orf63 | ENSG00000206043.7 | transcript | ENST00000579455.2 | protein_coding | 2514 | chr18 | TogoVar | |||||||
C18orf63_chr18_74310839_74364189 | 74361749 | T | TTATAATT others(38): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02723.hp1 others(2): Show |
a0001a0010 | a0001c0001a0010c0019 | a0001c0001t0007a0010c0019t0007 | a0001c0001t0007g0014 a0001c0001t0007g0108 a0010c0019t0007g0014 |
5 | 367 | 0.0136 | 45 | c.*53 others(56): Show |
C18orf63 | ENSG00000206043.7 | transcript | ENST00000579455.2 | protein_coding | 2561 | chr18 | TogoVar |