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 | 17087924 | CGATAGAT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02886.hp2 HG04199.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0025 | a0001c0001t0001g0037 a0001c0001t0001g0153 a0001c0001t0001g0165 others(2): Show |
5 | 166 | 0.0301 | -8 | c.151 others(29): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 17117948 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 166 | 0.0060 | -8 | c.157 others(29): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8349652 | ATCCGTCC others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0009a0001c0005t0019a0001c0005t0026 | a0001c0005t0009g0201 a0001c0005t0009g0202 a0001c0005t0009g0203 others(2): Show |
5 | 204 | 0.0245 | -8 | c.*54 others(19): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 2751 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8372507 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG03491.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0169 a0001c0002t0006g0145 |
2 | 204 | 0.0098 | -8 | c.128 others(27): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8385968 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02647.hp2 others(4): Show |
a0001a0006 | a0001c0010a0001c0011a0006c0025 | a0001c0010t0007a0001c0010t0013a0001c0011t0007others(1): Show | a0001c0010t0007g0026 a0001c0010t0007g0034 a0001c0010t0013g0024 others(4): Show |
7 | 204 | 0.0343 | -8 | c.128 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8386022 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02080.hp2 HG02109.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0002a0001c0016a0001c0024 | a0001c0002t0002a0001c0002t0005a0001c0016t0020others(1): Show | a0001c0002t0002g0180 a0001c0002t0005g0130 a0001c0002t0005g0131 others(4): Show |
7 | 204 | 0.0343 | -8 | c.128 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8401038 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp1 HG02074.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0006a0001c0003t0011 | a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0006g0145 others(2): Show |
5 | 204 | 0.0245 | -8 | c.128 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8509399 | GCCATCCA others(1): Show |
G | intron_variant | MODIFIER | HG02129.hp1 HG03579.hp1 NA21309.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0032a0001c0005t0026 | a0001c0002t0002g0164 a0001c0002t0032g0155 a0001c0005t0026g0127 |
3 | 204 | 0.0147 | -8 | c.831 others(23): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8509434 | ATCCGTCC others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02257.hp2 others(7): Show |
a0001a0007 | a0001c0004a0001c0005a0001c0009others(1): Show | a0001c0004t0010a0001c0004t0027a0001c0004t0040others(3): Show | a0001c0004t0010g0107 a0001c0004t0027g0106 a0001c0004t0040g0199 others(7): Show |
10 | 204 | 0.0490 | -8 | c.831 others(23): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8531007 | TTCTATCT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp2 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0043 others(31): Show |
34 | 204 | 0.1667 | -8 | c.830 others(27): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8531064 | TCTATCTA others(1): Show |
T | intron_variant | MODIFIER | NA18946.hp2 NA21309.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0003 | a0001c0002t0002g0174 a0001c0004t0003g0109 |
2 | 204 | 0.0098 | -8 | c.830 others(27): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8564866 | GTGTGTAT others(1): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG02109.hp2 others(6): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0021 | a0001c0001t0003a0001c0002t0005a0001c0002t0028others(1): Show | a0001c0001t0003g0122 a0001c0002t0005g0128 a0001c0002t0005g0129 others(6): Show |
9 | 204 | 0.0441 | -8 | c.523 others(25): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8601626 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00639.hp1 others(29): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0030others(13): Show | a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0093 others(29): Show |
32 | 204 | 0.1569 | -8 | c.522 others(27): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8601736 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02129.hp1 HG02145.hp1 others(16): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(11): Show | a0001c0001t0001g0070 a0001c0002t0002g0157 a0001c0002t0002g0164 others(16): Show |
19 | 204 | 0.0931 | -8 | c.522 others(27): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8604594 | AAGGAAGG others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01433.hp2 others(10): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0040 a0001c0001t0003g0115 a0001c0001t0003g0117 others(10): Show |
13 | 204 | 0.0637 | -8 | c.522 others(25): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8604598 | AAGGGAGG others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02647.hp1 others(2): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0008 | a0001c0002t0018a0001c0003t0004a0001c0003t0011others(1): Show | a0001c0002t0018g0002 a0001c0003t0004g0068 a0001c0003t0011g0108 others(2): Show |
5 | 204 | 0.0245 | -8 | c.522 others(25): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8604618 | GAGGGAGG others(1): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG03139.hp2 HG03209.hp2 others(2): Show |
a0001a0003 | a0001c0002a0001c0010a0003c0008 | a0001c0002t0002a0001c0010t0013a0003c0008t0001 | a0001c0002t0002g0173 a0001c0002t0002g0177 a0001c0002t0002g0190 others(2): Show |
5 | 204 | 0.0245 | -8 | c.522 others(25): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8604622 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG03225.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0153 a0001c0001t0006g0154 |
2 | 204 | 0.0098 | -8 | c.522 others(25): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8605745 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00639.hp2 others(31): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0005a0001c0003t0004others(18): Show | a0001c0001t0001g0033 a0001c0002t0005g0132 a0001c0003t0004g0007 others(31): Show |
34 | 204 | 0.1667 | -8 | c.522 others(25): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8634875 | ACAGGTGC others(1): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0188 a0001c0002t0002g0189 |
2 | 204 | 0.0098 | -8 | c.326 others(27): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8669024 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01167.hp1 HG02004.hp1 others(12): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0016a0001c0002t0002others(8): Show | a0001c0001t0003g0087 a0001c0001t0003g0102 a0001c0001t0003g0104 others(12): Show |
15 | 204 | 0.0735 | -8 | c.-14 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8698310 | CTGTCATT others(1): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03579.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0032a0001c0005t0034 | a0001c0002t0002g0157 a0001c0002t0032g0155 a0001c0005t0034g0156 |
3 | 204 | 0.0147 | -8 | c.-14 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8701316 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00597.hp2 others(70): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(24): Show | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(70): Show |
73 | 204 | 0.3578 | -8 | c.-14 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8729167 | CTCAATCA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00597.hp1 others(36): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0001t0016a0001c0001t0023others(17): Show | a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0093 others(36): Show |
39 | 204 | 0.1912 | -8 | c.-14 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8736188 | AGTTTGTT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00597.hp1 others(40): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0023others(19): Show | a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0093 others(40): Show |
43 | 204 | 0.2108 | -8 | c.-14 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERGL_chr12_18075869_18095193 | 18085867 | TTTGAGCC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0011 a0001c0001t0003g0033 a0001c0001t0003g0050 others(4): Show |
17 | 402 | 0.0423 | -8 | c.110 others(23): Show |
RERGL | ENSG00000111404.7 | transcript | ENST00000538724.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15110463 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(53): Show |
56 | 300 | 0.1867 | -8 | c.192 others(23): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15133146 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG01167.hp2 HG01169.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0088 a0001c0001t0001g0112 others(25): Show |
28 | 300 | 0.0933 | -8 | c.62- others(25): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15148847 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG01891.hp1 HG02109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0089 a0001c0001t0001g0112 a0001c0001t0002g0048 others(9): Show |
12 | 300 | 0.0400 | -8 | c.62- others(25): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15161138 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01261.hp1 HG01884.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0005others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0087 a0001c0001t0001g0105 others(10): Show |
13 | 300 | 0.0433 | -8 | c.62- others(25): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15161222 | GAAAGAAA others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01167.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0058 a0001c0001t0001g0137 a0001c0001t0001g0254 others(7): Show |
10 | 300 | 0.0333 | -8 | c.62- others(25): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15169920 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02056.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0029 a0001c0001t0001g0050 a0001c0001t0001g0062 others(6): Show |
9 | 300 | 0.0300 | -8 | c.61+ others(25): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15175333 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02818.hp1 HG03139.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0080 a0001c0001t0001g0110 others(9): Show |
12 | 300 | 0.0400 | -8 | c.61+ others(25): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15195551 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0194 a0001c0001t0002g0065 a0001c0001t0002g0066 |
3 | 300 | 0.0100 | -8 | c.61+ others(25): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15213996 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02080.hp2 HG02630.hp1 HG02896.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0003 | a0001c0001t0001g0037 a0001c0001t0001g0111 a0001c0001t0001g0112 others(8): Show |
11 | 300 | 0.0367 | -8 | c.61+ others(23): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15214033 | TGTGTGCG others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp1 HG01169.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(10): Show |
13 | 300 | 0.0433 | -8 | c.61+ others(23): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RESP18_chr2_219322407_219338177 | 219323751 | ATTTTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG02040.hp1 others(31): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 a0003c0004t0001g0053 a0003c0004t0001g0054 others(3): Show |
34 | 420 | 0.0810 | -8 | c.*37 others(19): Show |
RESP18 | ENSG00000182698.12 | transcript | ENST00000333527.6 | protein_coding | 3655 | chr2 | TogoVar | |||||||
REST_chr4_56902900_56940844 | 56922307 | TATTATTA others(1): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02145.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0018others(2): Show | a0001c0001t0004a0002c0002t0008a0002c0018t0035others(2): Show | a0001c0001t0004g0074 a0001c0001t0004g0079 a0002c0002t0008g0095 others(4): Show |
7 | 408 | 0.0172 | -8 | c.982 others(25): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 3/3 | chr4 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759543 | ATATGTAT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00733.hp1 others(21): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0004 | a0002c0002t0002g0004 a0004c0004t0004g0007 a0004c0004t0004g0021 |
24 | 452 | 0.0531 | -8 | c.-23 others(19): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2134 | chr3 | TogoVar | |||||||
RETREG1_chr5_16468053_16621997 | 16541739 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG00741.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0034 a0001c0001t0001g0167 a0001c0001t0001g0179 others(21): Show |
24 | 294 | 0.0816 | -8 | c.458 others(27): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
RETREG1_chr5_16468053_16621997 | 16581526 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(77): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0040 others(77): Show |
80 | 294 | 0.2721 | -8 | c.321 others(25): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
RETREG2_chr2_219173275_219190475 | 219189149 | CTGTGTGT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 HG03669.hp1 NA18939.hp2 others(5): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0004a0001c0002t0024a0003c0004t0003 | a0001c0002t0004g0003 a0001c0002t0024g0001 a0003c0004t0003g0003 |
8 | 430 | 0.0186 | -8 | c.*65 others(19): Show |
RETREG2 | ENSG00000144567.11 | transcript | ENST00000430297.7 | protein_coding | 3675 | chr2 | TogoVar | |||||||
RETREG3_chr17_42574515_42614374 | 42593647 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00733.hp2 others(45): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0003a0005c0004t0003 | a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0009 others(36): Show |
48 | 360 | 0.1333 | -8 | c.240 others(25): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
RETREG3_chr17_42574515_42614374 | 42597619 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG02738.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0225 a0001c0001t0002g0232 a0001c0001t0002g0248 others(7): Show |
10 | 360 | 0.0278 | -8 | c.240 others(25): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
RET_chr10_43072069_43135351 | 43107559 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01975.hp2 HG02572.hp1 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0001c0001t0008a0002c0004t0003 | a0001c0001t0005g0043 a0001c0001t0008g0139 a0002c0004t0003g0125 |
3 | 382 | 0.0079 | -8 | c.106 others(27): Show |
RET | ENSG00000165731.21 | transcript | ENST00000355710.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
REV3L_chr6_111294033_111488218 | 111401054 | CAATTATG others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02723.hp1 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0002 a0005c0007t0003g0003 a0005c0007t0003g0006 |
3 | 288 | 0.0104 | -8 | c.565 others(25): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 4/31 | chr6 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111422672 | ATATATAC others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01256.hp2 others(18): Show |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0001a0008c0011t0001 | a0002c0002t0001g0150 a0002c0002t0001g0161 a0002c0002t0001g0166 others(18): Show |
21 | 288 | 0.0729 | -8 | c.140 others(25): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111474988 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp1 others(90): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0002c0022others(5): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0003others(8): Show | a0001c0001t0002g0159 a0002c0002t0001g0004 a0002c0002t0001g0149 others(90): Show |
93 | 288 | 0.3229 | -8 | c.139 others(25): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | |||||||
REX1BD_chr19_18583798_18597337 | 18590246 | GCTCTTGC others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(262): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show |
265 | 424 | 0.6250 | -8 | c.453 others(23): Show |
REX1BD | ENSG00000006015.18 | transcript | ENST00000358607.11 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
REXO4_chr9_133401062_133423010 | 133408932 | CTTTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02965.hp1 NA18959.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0132 a0001c0002t0001g0038 |
4 | 428 | 0.0094 | -8 | c.100 others(23): Show |
REXO4 | ENSG00000148300.12 | transcript | ENST00000371942.8 | protein_coding | 5/7 | chr9 | TogoVar |