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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRHL3_chr1_24314357_24360318 | 24345198 | T | TACACCTG others(43): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(21): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0004a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0001g0100 others(20): Show |
24 | 351 | 0.0684 | 50 | c.145 others(67): Show |
GRHL3 | ENSG00000158055.17 | transcript | ENST00000361548.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GRIA4_chr11_105605073_105987090 | 105634468 | G | GGAAAGAA others(43): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0148 | 1 | 115 | 0.0087 | 50 | c.247 others(69): Show |
GRIA4 | ENSG00000152578.15 | transcript | ENST00000282499.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRIA4_chr11_105605073_105987090 | 105634472 | A | AGAAAGAA others(43): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0043 | 1 | 181 | 0.0055 | 50 | c.247 others(69): Show |
GRIA4 | ENSG00000152578.15 | transcript | ENST00000282499.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRIN2B_chr12_13532337_13986602 | 13607293 | T | TAAAAATA others(43): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0002a0001c0007a0001c0035 | a0001c0002t0018a0001c0002t0057a0001c0002t0062others(2): Show | a0001c0002t0018g0080 a0001c0002t0018g0158 a0001c0002t0057g0094 others(3): Show |
6 | 81 | 0.0741 | 50 | c.201 others(69): Show |
GRIN2B | ENSG00000273079.7 | transcript | ENST00000609686.4 | protein_coding | 10/13 | chr12 | TogoVar | |||||||
GRK5_chr10_119202571_119464745 | 119261070 | G | GGCCGGGC others(43): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0191 | 1 | 12 | 0.0833 | 50 | c.52+ others(67): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119379300 | G | GTTACACA others(43): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 200 | 0.0050 | 50 | c.149 others(67): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119394313 | C | CGTGTGTG others(43): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03453.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0033a0001c0001t0034 | a0001c0001t0029g0201 a0001c0001t0033g0026 a0001c0001t0034g0202 |
3 | 77 | 0.0390 | 50 | c.262 others(67): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRK7_chr3_141758408_141824352 | 141804816 | A | AACATGCT others(43): Show |
intron_variant | MODIFIER | NA18957.hp2 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0132 |
2 | 356 | 0.0056 | 50 | c.105 others(69): Show |
GRK7 | ENSG00000114124.3 | transcript | ENST00000682958.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRP_chr18_59215158_59235771 | 59233813 | G | GTATATAA others(43): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG03041.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 5 | 210 | 0.0238 | 50 | c.*33 others(61): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3043 | chr18 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59234068 | T | TTATATAT others(43): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 245 | 0.0041 | 50 | c.*36 others(61): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3298 | chr18 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113332345 | A | ACACACAG others(43): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0163 |
2 | 283 | 0.0071 | 50 | c.563 others(67): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113332381 | C | CGTGCACA others(43): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 21 | 0.0476 | 50 | c.563 others(67): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113332381 | C | CGTGCACA others(43): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(249): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0014others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(247): Show |
252 | 272 | 0.9265 | 50 | c.563 others(67): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113352362 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03579.hp2 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0005 | a0001c0001t0001g0217 a0006c0006t0005g0252 |
2 | 171 | 0.0117 | 50 | c.341 others(67): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
GSG1L2_chr17_9795608_9827079 | 9816912 | G | GTGTGTAT others(43): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG03195.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0001 | a0001c0003t0002g0116 a0001c0004t0001g0115 a0001c0004t0001g0148 |
3 | 471 | 0.0064 | 50 | c.310 others(67): Show |
GSG1L2 | ENSG00000214978.8 | transcript | ENST00000399363.5 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
GSG1L2_chr17_9795608_9827079 | 9816914 | G | GTGTATCT others(43): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02615.hp1 others(9): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0007others(1): Show | a0001c0003t0006a0001c0004t0001a0001c0004t0012others(2): Show | a0001c0003t0006g0086 a0001c0003t0006g0088 a0001c0003t0006g0089 others(8): Show |
12 | 466 | 0.0258 | 50 | c.310 others(67): Show |
GSG1L2 | ENSG00000214978.8 | transcript | ENST00000399363.5 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27979661 | A | AAGAAAGA others(43): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02615.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0021 | a0001c0002t0002g0161 a0001c0002t0021g0124 |
2 | 196 | 0.0102 | 50 | c.350 others(69): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27979663 | G | GAAAGAAA others(43): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0013 | 1 | 172 | 0.0058 | 50 | c.350 others(69): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27979686 | A | AGAAAGAG others(43): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 132 | 0.0076 | 50 | c.350 others(69): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27979686 | A | AGAGAGAG others(43): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0224 | 1 | 132 | 0.0076 | 50 | c.350 others(69): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27979697 | A | AAGAAAGA others(43): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0168 | 1 | 234 | 0.0043 | 50 | c.350 others(69): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
GSK3B_chr3_119816321_120099447 | 119954222 | G | GAGAATAG others(43): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 74 | 0.0135 | 50 | c.283 others(67): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
GSTM2_chr1_109663057_109680286 | 109670103 | A | AGGGGAGG others(43): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 194 | 0.0052 | 50 | c.360 others(65): Show |
GSTM2 | ENSG00000213366.13 | transcript | ENST00000241337.9 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 144136395 | A | AAAAGGAA others(43): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02896.hp1 NA18960.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0017a0001c0003t0035 | a0001c0001t0004g0054 a0001c0001t0017g0017 a0001c0003t0035g0104 |
3 | 21 | 0.1429 | 50 | c.521 others(67): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | |||||||
GTF2H5_chr6_158163350_158204344 | 158169360 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02300.hp2 HG03834.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0047others(1): Show | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(6): Show |
9 | 381 | 0.0236 | 50 | c.-35 others(67): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GUCA1B_chr6_42178284_42199956 | 42188893 | T | TATCATCT others(43): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0142 a0001c0002t0010g0146 |
2 | 339 | 0.0059 | 50 | c.208 others(65): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
GYG2_chrX_2823930_2887818 | 2845553 | T | TTATATAC others(43): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0021 | 1 | 121 | 0.0083 | 50 | c.149 others(67): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2846036 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0012 | 1 | 249 | 0.0040 | 50 | c.149 others(67): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
H1-7_chr12_48323980_48335279 | 48332960 | G | GGGGGGGC others(43): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 351 | 0.0028 | 50 | c.*29 others(61): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2682 | chr12 | TogoVar | |||||||
H1-7_chr12_48323980_48335279 | 48332960 | G | GGGGGGGG others(43): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 NA19067.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 2 | 352 | 0.0057 | 50 | c.*29 others(61): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2682 | chr12 | TogoVar | |||||||
H4C11_chr6_27819092_27829480 | 27826984 | C | CGGGCGGG others(43): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 388 | 0.0026 | 50 | c.*25 others(61): Show |
H4C11 | ENSG00000197238.5 | transcript | ENST00000355057.3 | protein_coding | 2505 | chr6 | TogoVar | |||||||
H4C12_chr6_27826174_27836560 | 27826984 | C | CGGGCGGG others(43): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 410 | 0.0024 | 50 | c.*42 others(61): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 4189 | chr6 | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104831918 | A | AAGAAGAG others(43): Show |
intron_variant | MODIFIER | HG00738.hp2 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 a0001c0001t0001g0263 |
2 | 63 | 0.0317 | 50 | c.534 others(67): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 6/23 | chr6 | TogoVar | |||||||
HADH_chr4_107984889_108040171 | 108022195 | G | GTGTATGT others(43): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 102 | 0.0098 | 50 | c.547 others(67): Show |
HADH | ENSG00000138796.18 | transcript | ENST00000309522.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02148.hp2 NA19081.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0054 a0001c0002t0003g0229 |
3 | 111 | 0.0270 | 50 | c.771 others(67): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0286 | 1 | 109 | 0.0092 | 50 | c.771 others(67): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389138 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0073 | 1 | 425 | 0.0024 | 50 | c.771 others(67): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389148 | A | ATGTGTAT others(43): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0287 | 1 | 424 | 0.0024 | 50 | c.771 others(67): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41730127 | A | AAGAAAGA others(43): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02135.hp1 HG02622.hp2 others(1): Show |
a0001a0006a0008 | a0001c0001a0006c0006a0008c0008 | a0001c0001t0001a0006c0006t0012a0008c0008t0001 | a0001c0001t0001g0315 a0006c0006t0012g0012 a0008c0008t0001g0313 |
4 | 64 | 0.0625 | 50 | c.106 others(69): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HBZ_chr16_147644_159503 | 154177 | G | GGTCGCGG others(43): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(157): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(7): Show |
160 | 338 | 0.4734 | 50 | c.300 others(63): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HBZ_chr16_147644_159503 | 154177 | G | GGTCGCGG others(43): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01981.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0005g0008 |
10 | 188 | 0.0532 | 50 | c.300 others(63): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HBZ_chr16_147644_159503 | 154177 | G | GGTCGCGG others(43): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18950.hp1 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 3 | 181 | 0.0166 | 50 | c.300 others(63): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45372440 | T | TATATAAA others(43): Show |
intron_variant | MODIFIER | NA19009.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0004 a0001c0001t0010g0005 |
2 | 197 | 0.0102 | 50 | c.123 others(71): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45376251 | A | AGAATATA others(43): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(58): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0055 others(58): Show |
61 | 63 | 0.9683 | 50 | c.123 others(71): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45376252 | G | GAATATAG others(43): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 224 | 0.0045 | 50 | c.123 others(71): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 585340 | C | CGGCGCGG others(43): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0153 | 1 | 406 | 0.0025 | 50 | c.-46 others(61): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 4540 | chr19 | TogoVar | |||||||
HCRTR2_chr6_55169515_55287617 | 55262471 | A | AATATATA others(43): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02976.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0326 a0001c0003t0002g0327 |
2 | 366 | 0.0055 | 50 | c.647 others(67): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0026 | 1 | 153 | 0.0065 | 50 | c.591 others(69): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0134 | 1 | 153 | 0.0065 | 50 | c.591 others(69): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 37037145 | G | GAGATGGA others(43): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01496.hp2 NA18950.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0009 | a0001c0002t0001g0022 a0001c0002t0001g0214 a0001c0005t0009g0303 |
3 | 140 | 0.0214 | 50 | c.321 others(67): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 21/35 | chr2 | TogoVar |