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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
REPS2_chrX_16941658_17158272 | 16956284 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG02723.hp2 HG03471.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011 | a0001c0001t0001g0030 a0001c0001t0001g0129 a0001c0001t0001g0142 others(3): Show |
6 | 9 | 0.6667 | -9 | c.273 others(26): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 17093191 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(46): Show |
49 | 164 | 0.2988 | -9 | c.151 others(30): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 17140735 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01517.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0101 a0001c0001t0003g0004 a0001c0001t0003g0005 others(6): Show |
9 | 46 | 0.1957 | -9 | c.191 others(28): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8386022 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02257.hp2 HG02970.hp2 others(2): Show |
a0001a0008 | a0001c0004a0001c0005a0008c0020 | a0001c0004t0010a0001c0004t0040a0001c0005t0009others(2): Show | a0001c0004t0010g0119 a0001c0004t0040g0199 a0001c0005t0009g0201 others(2): Show |
5 | 83 | 0.0602 | -9 | c.128 others(30): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8401037 | CCATATAT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00741.hp1 others(25): Show |
a0001 | a0001c0002a0001c0014a0001c0022others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0033others(4): Show | a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 others(25): Show |
28 | 161 | 0.1739 | -9 | c.128 others(30): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8482681 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01884.hp1 others(10): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0002t0005a0001c0002t0028others(4): Show | a0001c0001t0003g0121 a0001c0002t0005g0128 a0001c0002t0005g0129 others(10): Show |
13 | 81 | 0.1605 | -9 | c.110 others(30): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 10/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8605745 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01255.hp1 others(7): Show |
a0001a0006 | a0001c0002a0001c0004a0001c0009others(1): Show | a0001c0002t0005a0001c0002t0028a0001c0004t0010others(2): Show | a0001c0002t0005g0128 a0001c0002t0005g0129 a0001c0002t0005g0130 others(7): Show |
10 | 43 | 0.2326 | -9 | c.522 others(26): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8732808 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01884.hp1 others(14): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0002t0005a0001c0002t0018others(7): Show | a0001c0001t0003g0121 a0001c0002t0005g0128 a0001c0002t0005g0129 others(14): Show |
17 | 34 | 0.5000 | -9 | c.-14 others(30): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15166503 | GGATGGTG others(2): Show |
G | intron_variant | MODIFIER | HG06807.hp2 NA18522.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001 | a0001c0001t0003g0279 a0001c0001t0004g0277 a0001c0001t0004g0278 others(1): Show |
4 | 297 | 0.0135 | -9 | c.62- others(26): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RESP18_chr2_219322407_219338177 | 219333113 | ATAATATT others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02559.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0002c0003t0001g0009 a0002c0003t0001g0010 others(7): Show |
25 | 341 | 0.0733 | -9 | c.17+ others(20): Show |
RESP18 | ENSG00000182698.12 | transcript | ENST00000333527.6 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
REST_chr4_56902900_56940844 | 56907401 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(64): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0023 | a0003c0003t0002g0001 a0003c0003t0002g0006 a0003c0003t0002g0007 others(41): Show |
67 | 126 | 0.5317 | -9 | c.-82 others(18): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 498 | chr4 | TogoVar | |||||||
RETN_chr19_7664049_7675455 | 7670432 | AGATGATG others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(382): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(48): Show |
385 | 391 | 0.9847 | -9 | c.*70 others(16): Show |
RETN | ENSG00000104918.8 | transcript | ENST00000221515.6 | protein_coding | 4/4 | 70 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RETREG3_chr17_42574515_42614374 | 42597590 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(70): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0024others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0027 a0001c0001t0002g0204 others(57): Show |
73 | 241 | 0.3029 | -9 | c.240 others(26): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
RETREG3_chr17_42574515_42614374 | 42597619 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00621.hp1 others(46): Show |
a0001a0006 | a0001c0001a0006c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(5): Show | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(40): Show |
49 | 211 | 0.2322 | -9 | c.240 others(26): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
RETSAT_chr2_85336955_85359528 | 85338977 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01081.hp1 others(22): Show |
a0001a0004a0013 | a0001c0001a0004c0007a0013c0018 | a0001c0001t0004a0004c0007t0004a0013c0018t0004 | a0001c0001t0004g0005 a0001c0001t0004g0027 a0001c0001t0004g0048 others(6): Show |
25 | 90 | 0.2778 | -9 | c.*42 others(20): Show |
RETSAT | ENSG00000042445.14 | transcript | ENST00000295802.9 | protein_coding | 2977 | chr2 | TogoVar | |||||||
RETSAT_chr2_85336955_85359528 | 85348630 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00741.hp2 others(26): Show |
a0001a0002a0010 | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0009t0005a0001c0009t0013others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0045 others(6): Show |
29 | 336 | 0.0863 | -9 | c.997 others(24): Show |
RETSAT | ENSG00000042445.14 | transcript | ENST00000295802.9 | protein_coding | 5/10 | chr2 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111389727 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(14): Show |
a0003 | a0003c0005a0003c0008 | a0003c0005t0004a0003c0008t0004 | a0003c0005t0004g0266 a0003c0005t0004g0267 a0003c0005t0004g0270 others(13): Show |
17 | 136 | 0.1250 | -9 | c.757 others(24): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 6/31 | chr6 | TogoVar | |||||||
REXO1_chr19_1810248_1853483 | 1826684 | GGCAACAG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(143): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0003c0003others(25): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(31): Show | a0001c0001t0001g0189 a0002c0002t0001g0302 a0003c0003t0001g0001 others(124): Show |
146 | 378 | 0.3862 | -9 | c.191 others(26): Show |
REXO1 | ENSG00000079313.15 | transcript | ENST00000170168.9 | protein_coding | 2/15 | chr19 | TogoVar | |||||||
REXO4_chr9_133401062_133423010 | 133401663 | CTGTGAGC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01071.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0004a0002c0003t0005others(4): Show | a0001c0001t0001g0042 a0001c0001t0001g0112 a0001c0001t0001g0113 others(11): Show |
29 | 426 | 0.0681 | -9 | c.*52 others(20): Show |
REXO4 | ENSG00000148300.12 | transcript | ENST00000371942.8 | protein_coding | 4398 | chr9 | TogoVar | |||||||
REXO5_chr16_20801527_20854665 | 20820535 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG02145.hp2 HG02698.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0028 a0001c0001t0002g0100 others(1): Show |
4 | 370 | 0.0108 | -9 | c.476 others(26): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | chr16 | TogoVar | |||||||
REXO5_chr16_20801527_20854665 | 20820536 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp2 HG01069.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0015 others(8): Show |
16 | 335 | 0.0478 | -9 | c.476 others(26): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
REXO5_chr16_20801527_20854665 | 20820538 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp2 HG01175.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0027 others(5): Show |
9 | 350 | 0.0257 | -9 | c.476 others(26): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39313685 | TGGGAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01109.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0063 a0001c0002t0002g0070 a0001c0002t0002g0251 others(32): Show |
35 | 274 | 0.1277 | -9 | c.120 others(26): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 10/24 | chr4 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39351253 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG01123.hp2 others(18): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0013 | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0183 others(18): Show |
21 | 92 | 0.2283 | -9 | c.132 others(22): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124312792 | TGCATATG others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(371): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(38): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0038 others(363): Show |
374 | 386 | 0.9689 | -9 | c.317 others(24): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFTN1_chr3_16310845_16518699 | 16357114 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02970.hp2 HG02976.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0004a0002c0003t0006others(1): Show | a0001c0002t0001g0176 a0002c0003t0004g0035 a0002c0003t0004g0170 others(3): Show |
6 | 143 | 0.0420 | -9 | c.114 others(26): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
RFTN2_chr2_197563224_197680587 | 197575879 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01515.hp1 HG01517.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0050 others(2): Show |
5 | 310 | 0.0161 | -9 | c.123 others(28): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
RFTN2_chr2_197563224_197680587 | 197607475 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0007g0092 |
3 | 126 | 0.0238 | -9 | c.115 others(28): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 7/8 | chr2 | TogoVar | |||||||
RFX1_chr19_13956530_14011320 | 13970661 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02895.hp1 HG02897.hp1 others(3): Show |
a0001a0004a0005 | a0001c0001a0004c0009a0004c0010others(1): Show | a0001c0001t0001a0004c0009t0007a0004c0010t0007others(2): Show | a0001c0001t0001g0196 a0004c0009t0007g0018 a0004c0009t0007g0019 others(3): Show |
6 | 91 | 0.0659 | -9 | c.131 others(26): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 9/20 | chr19 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6003778 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG01975.hp1 HG01978.hp1 others(14): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(14): Show |
17 | 157 | 0.1083 | -9 | c.150 others(26): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 13/17 | chr19 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6017016 | ACTGAGAT others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 others(5): Show |
8 | 306 | 0.0261 | -9 | c.598 others(24): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 6/17 | chr19 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6049244 | GGTAGCAT others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02080.hp1 HG02109.hp2 others(15): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(15): Show |
18 | 306 | 0.0588 | -9 | c.-8- others(24): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3292061 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01175.hp1 HG01243.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0108 a0001c0001t0002g0046 others(28): Show |
31 | 40 | 0.7750 | -9 | c.731 others(26): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 6/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3504281 | CATATAAA others(2): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG02145.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0113 a0001c0001t0002g0045 a0001c0001t0002g0046 others(8): Show |
11 | 146 | 0.0753 | -9 | c.-9+ others(26): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
RFX4_chr12_106578004_106767803 | 106599471 | GTGATGAT others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01074.hp1 others(68): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 others(67): Show |
71 | 248 | 0.2863 | -9 | c.44- others(24): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFX4_chr12_106578004_106767803 | 106646431 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG02056.hp2 NA18939.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 a0001c0002t0001g0038 a0001c0002t0001g0039 others(5): Show |
8 | 97 | 0.0825 | -9 | c.191 others(26): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFX7_chr15_56082280_56248879 | 56179802 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0018 | a0001c0001t0015g0233 a0001c0001t0015g0236 a0001c0001t0015g0237 others(2): Show |
5 | 358 | 0.0140 | -9 | c.162 others(24): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
RFX8_chr2_101392359_101480112 | 101453285 | ATAAATAA others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02258.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0002 a0002c0002t0001g0152 a0003c0003t0001g0153 others(3): Show |
10 | 348 | 0.0287 | -9 | c.72+ others(26): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
RGCC_chr13_41452550_41475871 | 41469264 | GTAATAAT others(2): Show |
G | intron_variant | MODIFIER | HG03041.hp1 HG03471.hp1 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0099 a0001c0001t0001g0146 |
3 | 372 | 0.0081 | -9 | c.406 others(24): Show |
RGCC | ENSG00000102760.13 | transcript | ENST00000379359.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RGCC_chr13_41452550_41475871 | 41469292 | TAATAAGA others(2): Show |
T | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG01975.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0043 others(4): Show |
11 | 334 | 0.0329 | -9 | c.406 others(24): Show |
RGCC | ENSG00000102760.13 | transcript | ENST00000379359.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RGCC_chr13_41452550_41475871 | 41469295 | TAAGAAGA others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01099.hp2 HG01167.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0075 a0001c0001t0001g0142 others(3): Show |
11 | 290 | 0.0379 | -9 | c.406 others(24): Show |
RGCC | ENSG00000102760.13 | transcript | ENST00000379359.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RGL1_chr1_183800120_183933532 | 183805971 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01074.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 others(28): Show |
31 | 60 | 0.5167 | -9 | c.28- others(22): Show |
RGL1 | ENSG00000143344.16 | transcript | ENST00000360851.4 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RGL1_chr1_183800120_183933532 | 183913182 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02280.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0016 | a0001c0002t0002g0149 a0001c0002t0004g0033 a0001c0002t0004g0050 others(3): Show |
6 | 105 | 0.0571 | -9 | c.174 others(26): Show |
RGL1 | ENSG00000143344.16 | transcript | ENST00000360851.4 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RGMA_chr15_93030271_93094211 | 93077205 | ACCTGGGA others(2): Show |
A | intron_variant | MODIFIER | HG03130.hp1 HG03139.hp1 HG03225.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0057a0001c0002t0075a0001c0004t0070others(3): Show | a0001c0002t0057g0016 a0001c0002t0075g0364 a0001c0004t0070g0231 others(3): Show |
6 | 412 | 0.0146 | -9 | c.15- others(24): Show |
RGMA | ENSG00000182175.15 | transcript | ENST00000329082.12 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
RGPD2_chr2_87750960_87830796 | 87824742 | GGCCGCCG others(2): Show |
G | intron_variant | MODIFIER | HG03225.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0149 |
2 | 162 | 0.0123 | -9 | c.72+ others(22): Show |
RGPD2 | ENSG00000185304.16 | transcript | ENST00000398146.5 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGPD4_chr2_107821892_107897544 | 107826465 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp1 others(102): Show |
a0002a0003a0004others(16): Show | a0002c0003a0002c0010a0002c0014others(20): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0007others(33): Show | a0002c0003t0001g0167 a0002c0003t0002g0083 a0002c0003t0002g0084 others(102): Show |
105 | 238 | 0.4412 | -9 | c.-54 others(18): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 426 | chr2 | TogoVar | |||||||
RGPD4_chr2_107821892_107897544 | 107845207 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00733.hp2 others(11): Show |
a0004a0026 | a0004c0004a0026c0068 | a0004c0004t0002a0004c0004t0032a0026c0068t0002 | a0004c0004t0002g0090 a0004c0004t0002g0097 a0004c0004t0002g0107 others(11): Show |
14 | 53 | 0.2642 | -9 | c.782 others(26): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RGPD8_chr2_112363369_112438645 | 112420169 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02622.hp1 others(7): Show |
a0005a0010 | a0005c0006a0010c0019a0010c0053 | a0005c0006t0002a0010c0019t0002a0010c0053t0002 | a0005c0006t0002g0003 a0005c0006t0002g0004 a0005c0006t0002g0208 others(5): Show |
10 | 193 | 0.0518 | -9 | c.405 others(26): Show |
RGPD8 | ENSG00000169629.12 | transcript | ENST00000302558.8 | protein_coding | 4/22 | chr2 | TogoVar | |||||||
RGS13_chr1_192631147_192665311 | 192641236 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0005 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0046 others(2): Show |
6 | 395 | 0.0152 | -9 | c.-5+ others(24): Show |
RGS13 | ENSG00000127074.15 | transcript | ENST00000391995.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RGS20_chr8_53846795_53964303 | 53889412 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG02280.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(2): Show | a0001c0001t0002g0104 a0001c0001t0002g0244 a0001c0001t0002g0246 others(4): Show |
7 | 67 | 0.1045 | -9 | c.510 others(26): Show |
RGS20 | ENSG00000147509.14 | transcript | ENST00000297313.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |