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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIGQ_chr16_564968_589109 | 571108 | T | TGTCTGGC others(465): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02109.hp1 NA18971.hp2 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0018 | a0002c0001t0001g0019 a0002c0001t0001g0171 a0002c0001t0018g0174 |
3 | 408 | 0.0074 | 472 | c.-10 others(489): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571108 | T | TGTGTGTC others(465): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0191 | 1 | 408 | 0.0025 | 472 | c.-10 others(489): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571109 | C | CTGGCTAG others(465): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0126 | 1 | 408 | 0.0025 | 472 | c.-10 others(489): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571109 | C | CTGGCTAG others(465): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0149 | 1 | 408 | 0.0025 | 472 | c.-10 others(489): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325041 | T | TGAGTGAG others(465): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 398 | 0.0025 | 472 | c.194 others(489): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325041 | T | TGAGTGAG others(465): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 398 | 0.0025 | 472 | c.194 others(489): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325041 | T | TGAGTGAG others(465): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 2 | 398 | 0.0050 | 472 | c.194 others(489): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
PRIMPOL_chr4_184644738_184699952 | 184676528 | C | CTTCTCCC others(465): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 328 | 0.0031 | 472 | c.845 others(489): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | chr4 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2106627 | C | CTTCAGCA others(465): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142 | 1 | 286 | 0.0035 | 472 | c.335 others(491): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRPF6_chr20_63976132_64038100 | 64011805 | T | TGGCTTCT others(465): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 294 | 0.0034 | 472 | c.152 others(490): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1720119 | C | CAGAGAGA others(465): Show |
intron_variant | MODIFIER | HG03453.hp2 NA20129.hp1 |
a0001 | a0001c0006a0001c0023 | a0001c0006t0004a0001c0023t0004 | a0001c0006t0004g0231 a0001c0023t0004g0230 |
2 | 322 | 0.0062 | 472 | c.200 others(491): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1720178 | A | AGAGGGAG others(465): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 322 | 0.0031 | 472 | c.200 others(491): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGPD5_chr2_109789305_109862705 | 109794573 | A | ACCCGGCC others(465): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 40 | 0.0250 | 472 | c.72+ others(483): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 288705 | T | TCTCTCTC others(465): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 133 | 0.0075 | 472 | c.352 others(489): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 304998 | A | AGGGGGAC others(465): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0048 | 1 | 133 | 0.0075 | 472 | c.351 others(491): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 305030 | G | GGGGACAG others(465): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0100 | 1 | 133 | 0.0075 | 472 | c.351 others(491): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1156892 | C | CCCACTCC others(465): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0099 | 1 | 203 | 0.0049 | 472 | c.-12 others(491): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1156892 | C | CCCACTCC others(465): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(4): Show | a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 others(15): Show |
18 | 203 | 0.0887 | 472 | c.-12 others(491): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1156892 | C | CCCACTCC others(465): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0181 | 1 | 203 | 0.0049 | 472 | c.-12 others(491): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(465): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0050 | 1 | 280 | 0.0036 | 472 | c.89- others(485): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(465): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0042 | 1 | 280 | 0.0036 | 472 | c.89- others(485): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36642171 | A | AAAAAAAA others(465): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0173 | 1 | 360 | 0.0028 | 472 | c.-43 others(487): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
SLC11A1_chr2_218377273_218401894 | 218377639 | G | GGTGATCC others(465): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | 472 | c.-47 others(483): Show |
SLC11A1 | ENSG00000018280.17 | transcript | ENST00000233202.11 | protein_coding | 4633 | chr2 | TogoVar | |||||||
SLC37A3_chr7_140328752_140403530 | 140387779 | A | AATATAAA others(465): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 a0001c0001t0002g0028 |
2 | 346 | 0.0058 | 472 | c.-70 others(489): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
SLC45A1_chr1_8313114_8349165 | 8322280 | A | ATGGATGA others(465): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 388 | 0.0026 | 472 | c.-24 others(489): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A4_chr8_141202174_141313288 | 141246484 | A | ATCAAGAT others(465): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0011 | 1 | 188 | 0.0053 | 472 | c.241 others(489): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168596103 | C | CGTGAACA others(465): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18973.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0112 |
3 | 180 | 0.0167 | 472 | c.638 others(489): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827089 | C | CATATATT others(465): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0097 | 1 | 302 | 0.0033 | 472 | c.12+ others(487): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827176 | C | CATATATT others(465): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 302 | 0.0033 | 472 | c.12+ others(487): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7724733 | G | GTGGTGGT others(465): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19066.hp1 |
a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0083 a0002c0004t0014g0110 |
2 | 168 | 0.0119 | 472 | c.261 others(489): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913457 | T | TGTGTGTG others(465): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 420 | 0.0024 | 472 | c.*27 others(483): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1772 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913511 | T | TATTTTTT others(465): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 420 | 0.0024 | 472 | c.*28 others(483): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1826 | chr9 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46772609 | T | TATATATG others(465): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 112 | 0.0089 | 472 | c.62+ others(487): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF12_chr15_56913644_57294853 | 57075835 | T | TTTTCTTT others(465): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 330 | 0.0030 | 472 | c.222 others(491): Show |
TCF12 | ENSG00000140262.18 | transcript | ENST00000333725.10 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71199804 | G | GTGTGTGT others(465): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG01123.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(19): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 others(21): Show |
24 | 116 | 0.2069 | 472 | c.100 others(491): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161833 | G | GACCCCTG others(465): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0038 | 1 | 388 | 0.0026 | 472 | c.*23 others(483): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2095 | chr11 | TogoVar | |||||||
TMEM132C_chr12_128262170_128712911 | 128708580 | C | CACTCACC others(465): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0120 | 1 | 170 | 0.0059 | 472 | c.*22 others(483): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 670 | chr12 | TogoVar | |||||||
TMEM232_chr5_110414496_110731671 | 110610240 | A | AAGGAAGG others(465): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 250 | 0.0040 | 472 | c.903 others(489): Show |
TMEM232 | ENSG00000186952.15 | transcript | ENST00000455884.7 | protein_coding | 8/13 | chr5 | TogoVar | |||||||
TMEM232_chr5_110414496_110731671 | 110610240 | A | AAGGAAGG others(465): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 250 | 0.0040 | 472 | c.903 others(489): Show |
TMEM232 | ENSG00000186952.15 | transcript | ENST00000455884.7 | protein_coding | 8/13 | chr5 | TogoVar | |||||||
TRIM2_chr4_153199443_153344317 | 153222058 | A | AAGGAAGG others(465): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0159 | 1 | 268 | 0.0037 | 472 | c.30+ others(489): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50029363 | C | CCCCACAC others(465): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0193 | 1 | 224 | 0.0045 | 472 | c.225 others(491): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178757157 | A | ACAGTAAG others(465): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0006 | a0006c0012 | a0006c0012t0003 | a0006c0012t0003g0177 | 1 | 242 | 0.0041 | 472 | c.106 others(491): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | |||||||
TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(465): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0018 | a0018c0027 | a0018c0027t0003 | a0018c0027t0003g0246 | 1 | 370 | 0.0027 | 472 | c.103 others(493): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917081 | C | CTCGGAGG others(465): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0178 | 1 | 344 | 0.0029 | 472 | c.218 others(487): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(465): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0075 | 1 | 204 | 0.0049 | 472 | c.213 others(491): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(465): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18957.hp2 |
a0002 | a0002c0002a0002c0017 | a0002c0002t0002a0002c0017t0005 | a0002c0002t0002g0008 a0002c0017t0005g0086 |
2 | 204 | 0.0098 | 472 | c.213 others(491): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95196869 | T | TTATGTAA others(465): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0016 | a0002c0016t0002 | a0002c0016t0002g0131 | 1 | 204 | 0.0049 | 472 | c.213 others(491): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CGATAGAT others(465): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214 | 1 | 408 | 0.0025 | 472 | c.53+ others(487): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CGATAGAT others(465): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 408 | 0.0025 | 472 | c.53+ others(487): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
WDR87_chr19_37879823_37911594 | 37881029 | T | TATATATA others(465): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0005 | 1 | 330 | 0.0030 | 472 | c.*39 others(483): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3793 | chr19 | TogoVar |