regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPH3A_chr12_112786748_112903881 | 112874720 | GCCTGTTT others(15): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02976.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0128a0001c0001t0131a0001c0001t0144 | a0001c0001t0128g0046a0001c0001t0131g0077a0001c0001t0144g0024 | 3 | 266 | 0.0113 | -22 | c.797 others(37): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RPL13A_chr19_49482608_49497308 | 49489812 | TCCTTGTC others(15): Show |
T | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00423.hp2 HG00642.hp1 others(36): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0009a0002c0004t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0012others(12): Show | 39 | 338 | 0.1154 | -22 | c.16- others(32): Show |
RPL13A | ENSG00000142541.18 | transcript | ENST00000391857.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RPL18A_chr19_17854910_17868319 | 17857448 | TGCAAATT others(15): Show |
T | upstream_gene_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0024 | 1 | 410 | 0.0024 | -22 | c.-25 others(33): Show |
RPL18A | ENSG00000105640.13 | transcript | ENST00000222247.10 | protein_coding | 2461 | chr19 | TogoVar | ||||||
RPL26_chr17_8372516_8388193 | 8384050 | CGTGTGTG others(15): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01167.hp1 HG01192.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(3): Show | 19 | 422 | 0.0450 | -22 | c.-92 others(31): Show |
RPL26 | ENSG00000161970.15 | transcript | ENST00000648839.1 | protein_coding | 858 | chr17 | TogoVar | ||||||
RPL30_chr8_98036721_98050545 | 98037382 | CTATGTAT others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02970.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 3 | 448 | 0.0067 | -22 | c.*43 others(33): Show |
RPL30 | ENSG00000156482.11 | transcript | ENST00000287038.8 | protein_coding | 4338 | chr8 | TogoVar | ||||||
RPL36_chr19_5685295_5696875 | 5694586 | AGGTGGGG others(15): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 394 | 0.0051 | -22 | c.*29 others(33): Show |
RPL36 | ENSG00000130255.13 | transcript | ENST00000347512.8 | protein_coding | 2712 | chr19 | TogoVar | ||||||
RPL41_chr12_56111633_56122967 | 56116206 | GAAAGAAA others(15): Show |
G | upstream_gene_variant | MODIFIER | HG03209.hp2 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003 | 2 | 352 | 0.0057 | -22 | c.-58 others(31): Show |
RPL41 | ENSG00000229117.9 | transcript | ENST00000546591.6 | protein_coding | 426 | chr12 | TogoVar | ||||||
RPL4_chr15_66493015_66509855 | 66509822 | CATATATA others(15): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp2 others(59): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0022others(3): Show | a0001c0001t0003g0001a0001c0001t0003g0029a0001c0001t0003g0036others(8): Show | 62 | 428 | 0.1449 | -22 | c.-50 others(33): Show |
RPL4 | ENSG00000174444.15 | transcript | ENST00000307961.11 | protein_coding | 4968 | chr15 | TogoVar | ||||||
RPN1_chr3_128614969_128655818 | 128635640 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01192.hp2 HG03239.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0127a0001c0002t0006g0128a0001c0002t0006g0129 | 3 | 388 | 0.0077 | -22 | c.633 others(39): Show |
RPN1 | ENSG00000163902.12 | transcript | ENST00000296255.8 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
RPN2_chr20_37174330_37246619 | 37189311 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 346 | 0.0029 | -22 | c.207 others(39): Show |
RPN2 | ENSG00000118705.18 | transcript | ENST00000237530.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RPRD2_chr1_150359147_150481566 | 150384448 | ATCATTAT others(15): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01070.hp1 others(33): Show |
a0001a0007 | a0001c0002a0007c0018 | a0001c0002t0003a0001c0002t0015a0001c0002t0019others(3): Show | a0001c0002t0003g0004a0001c0002t0003g0005a0001c0002t0003g0006others(33): Show | 36 | 318 | 0.1132 | -22 | c.205 others(41): Show |
RPRD2 | ENSG00000163125.16 | transcript | ENST00000369068.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPRD2_chr1_150359147_150481566 | 150387566 | CCTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 2 | 318 | 0.0063 | -22 | c.205 others(41): Show |
RPRD2 | ENSG00000163125.16 | transcript | ENST00000369068.5 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
RPS6KA2_chr6_166404364_166632251 | 166510554 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG02257.hp1 NA18522.hp1 |
a0001 | a0001c0006a0001c0007a0001c0046 | a0001c0006t0037a0001c0007t0011a0001c0046t0004 | a0001c0006t0037g0122a0001c0007t0011g0011a0001c0046t0004g0154 | 3 | 244 | 0.0123 | -22 | c.299 others(37): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 3/20 | chr6 | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 90883894 | AGCCTGTG others(15): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0081 | 1 | 306 | 0.0033 | -22 | c.183 others(41): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 14/16 | chr14 | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 90885552 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02738.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0166a0001c0001t0245 | a0001c0001t0043g0202a0001c0001t0166g0270a0001c0001t0245g0268 | 3 | 306 | 0.0098 | -22 | c.183 others(41): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 14/16 | chr14 | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 91044354 | AGAAAGAA others(15): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00673.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0005a0001c0001t0008a0001c0001t0027others(18): Show | a0001c0001t0005g0205a0001c0001t0005g0300a0001c0001t0008g0231others(23): Show | 26 | 306 | 0.0850 | -22 | c.103 others(41): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
RPS6KB1_chr17_59888121_59955574 | 59900171 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp2 HG01109.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0208a0001c0001t0001g0209a0001c0001t0001g0210others(18): Show | 21 | 304 | 0.0691 | -22 | c.141 others(39): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPS6KB1_chr17_59888121_59955574 | 59909226 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG01981.hp1 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152a0001c0001t0001g0153 | 2 | 304 | 0.0066 | -22 | c.142 others(39): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPS6KC1_chr1_213046241_213279774 | 213119425 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02886.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0242a0001c0001t0001g0319a0001c0001t0001g0322others(8): Show | 11 | 330 | 0.0333 | -22 | c.472 others(39): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPSA2_chr19_23758004_23833868 | 23833086 | CTGTCTTC others(15): Show |
C | downstream_gene_variant | MODIFIER | NA19063.hp1 | a0003 | a0003c0003 | a0003c0003t0059 | a0003c0003t0059g0196 | 1 | 366 | 0.0027 | -22 | c.*50 others(33): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 4219 | chr19 | TogoVar | ||||||
RPSA_chr3_39401720_39417542 | 39415503 | CAAAAAAA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 384 | 0.0026 | -22 | c.*31 others(33): Show |
RPSA | ENSG00000168028.15 | transcript | ENST00000301821.11 | protein_coding | 2962 | chr3 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80561241 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(40): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(33): Show | a0001c0002t0017a0001c0003t0004a0001c0004t0001others(37): Show | a0001c0002t0017g0118a0001c0003t0004g0119a0001c0004t0001g0152others(40): Show | 43 | 196 | 0.2194 | -22 | c.162 others(41): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80574140 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG03130.hp1 HG03453.hp2 |
a0001 | a0001c0064a0001c0068 | a0001c0064t0006a0001c0068t0025 | a0001c0064t0006g0106a0001c0068t0025g0104 | 2 | 196 | 0.0102 | -22 | c.162 others(41): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPUSD4_chr11_126197096_126216650 | 126214492 | TTTTTTTT others(15): Show |
T | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0030 | 1 | 416 | 0.0024 | -22 | c.-28 others(33): Show |
RPUSD4 | ENSG00000165526.9 | transcript | ENST00000298317.9 | protein_coding | 2843 | chr11 | TogoVar | ||||||
RRM2_chr2_10117739_10136414 | 10126177 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 358 | 0.0028 | -22 | c.570 others(37): Show |
RRM2 | ENSG00000171848.16 | transcript | ENST00000304567.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RRP15_chr1_218280293_218342983 | 218331651 | CTTTTTTT others(15): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02074.hp1 NA18940.hp1 NA18988.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0041a0001c0001t0042 | a0001c0001t0012g0007a0001c0001t0012g0022a0001c0001t0012g0207others(4): Show | 8 | 360 | 0.0222 | -22 | c.*57 others(31): Show |
RRP15 | ENSG00000067533.6 | transcript | ENST00000366932.4 | protein_coding | 5/5 | 578 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
RS1_chrX_18634688_18677108 | 18651277 | GAGAGAGA others(15): Show |
G | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 308 | 0.0033 | -22 | c.185 others(39): Show |
RS1 | ENSG00000102104.9 | transcript | ENST00000379984.4 | protein_coding | 3/5 | chrX | TogoVar | ||||||
RSF1_chr11_77655009_77825722 | 77671138 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0139 | 1 | 352 | 0.0028 | -22 | c.375 others(39): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 15/15 | chr11 | TogoVar | ||||||
RSL24D1_chr15_55175806_55201941 | 55194803 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01943.hp2 NA18982.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051a0001c0002t0002g0052a0001c0002t0002g0053others(1): Show | 4 | 326 | 0.0123 | -22 | c.81+ others(37): Show |
RSL24D1 | ENSG00000137876.11 | transcript | ENST00000260443.9 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6776873 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp1 HG01891.hp2 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0008a0002c0005a0002c0006others(4): Show | a0001c0008t0002a0002c0005t0001a0002c0006t0001others(4): Show | a0001c0008t0002g0083a0002c0005t0001g0015a0002c0006t0001g0081others(7): Show | 10 | 108 | 0.0926 | -22 | c.141 others(39): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
RSPH14_chr22_23054415_23146990 | 23130139 | GAAAGAAA others(15): Show |
G | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 314 | 0.0032 | -22 | c.421 others(39): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 4/6 | chr22 | TogoVar | ||||||
RSPO2_chr8_107894316_108088620 | 108003277 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG03710.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120a0002c0002t0001g0136 | 2 | 240 | 0.0083 | -22 | c.95- others(39): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
RSPO2_chr8_107894316_108088620 | 108003301 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0227 | 1 | 240 | 0.0042 | -22 | c.95- others(39): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
RSPO4_chr20_953452_1007311 | 959065 | CTGGTGGT others(15): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00673.hp1 others(55): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(6): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0007others(35): Show | 58 | 376 | 0.1543 | -22 | c.*12 others(33): Show |
RSPO4 | ENSG00000101282.9 | transcript | ENST00000217260.9 | protein_coding | 5/5 | 1270 | chr20 | TogoVar | |||||
RSPO4_chr20_953452_1007311 | 959105 | GAGTGTGG others(15): Show |
G | 3_prime_UTR_variant | MODIFIER | NA20129.hp1 | a0006 | a0006c0007 | a0006c0007t0048 | a0006c0007t0048g0291 | 1 | 376 | 0.0027 | -22 | c.*12 others(33): Show |
RSPO4 | ENSG00000101282.9 | transcript | ENST00000217260.9 | protein_coding | 5/5 | 1230 | chr20 | TogoVar | |||||
RSPO4_chr20_953452_1007311 | 962783 | TCATGACT others(15): Show |
T | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 376 | 0.0027 | -22 | c.595 others(39): Show |
RSPO4 | ENSG00000101282.9 | transcript | ENST00000217260.9 | protein_coding | 4/4 | chr20 | TogoVar | ||||||
RSPO4_chr20_953452_1007311 | 964793 | TATATACA others(15): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0293 | 1 | 376 | 0.0027 | -22 | c.410 others(37): Show |
RSPO4 | ENSG00000101282.9 | transcript | ENST00000217260.9 | protein_coding | 3/4 | chr20 | TogoVar | ||||||
RSPO4_chr20_953452_1007311 | 973803 | TTCAATAC others(15): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0233 | 1 | 376 | 0.0027 | -22 | c.80- others(37): Show |
RSPO4 | ENSG00000101282.9 | transcript | ENST00000217260.9 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158194054 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 276 | 0.0036 | -22 | c.321 others(39): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RSRC1_chr3_158105089_158550730 | 158399123 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG02109.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0084 | 2 | 276 | 0.0073 | -22 | c.583 others(41): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RSRC1_chr3_158105089_158550730 | 158453194 | TATTTTCA others(15): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01175.hp2 others(53): Show |
a0001a0003a0005 | a0001c0001a0003c0005a0005c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0004others(53): Show | 56 | 276 | 0.2029 | -22 | c.584 others(39): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RSRC1_chr3_158105089_158550730 | 158517755 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03098.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014 | a0001c0001t0013g0019a0001c0001t0013g0275a0001c0001t0014g0274 | 3 | 276 | 0.0109 | -22 | c.653 others(41): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RSRC1_chr3_158105089_158550730 | 158547463 | GAGAAATT others(15): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 276 | 0.0036 | -22 | c.*31 others(33): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 1734 | chr3 | TogoVar | ||||||
RSU1_chr10_16585611_16822424 | 16677960 | TAGTTGAC others(15): Show |
T | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 190 | 0.0053 | -22 | c.731 others(41): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
RTCB_chr22_32382582_32417247 | 32417225 | GAGTGCAG others(15): Show |
G | upstream_gene_variant | MODIFIER | HG01346.hp2 NA18943.hp1 NA18950.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0042a0001c0002t0001g0066others(3): Show | 11 | 438 | 0.0251 | -22 | c.-50 others(33): Show |
RTCB | ENSG00000100220.12 | transcript | ENST00000216038.6 | protein_coding | 4979 | chr22 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63692120 | GCACACCT others(15): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 60 | 0.0167 | -22 | c.265 others(39): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RTF1_chr15_41412095_41488563 | 41426781 | ATGTGTGT others(15): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0023 | 1 | 226 | 0.0044 | -22 | c.198 others(39): Show |
RTF1 | ENSG00000137815.15 | transcript | ENST00000389629.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
RTF2_chr20_56463627_56524449 | 56515595 | GAGAGACA others(15): Show |
G | intron_variant | MODIFIER | HG03209.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0161 | 2 | 388 | 0.0052 | -22 | c.592 others(39): Show |
RTF2 | ENSG00000022277.13 | transcript | ENST00000357348.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RTL4_chrX_112078016_112462514 | 112082813 | GAGAGAGA others(15): Show |
G | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0131 | 1 | 134 | 0.0075 | -22 | c.-86 others(31): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 202 | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112185371 | TTATTAAT others(15): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03130.hp1 NA18906.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0001c0002t0004a0002c0001t0001 | a0001c0002t0002g0017a0001c0002t0004g0018a0002c0001t0001g0019 | 3 | 134 | 0.0224 | -22 | c.-44 others(43): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar |