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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RELL1_chr4_37605634_37691376 | 37653364 | CTCAATAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(61): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0034 others(61): Show |
64 | 322 | 0.1988 | -7 | c.89- others(22): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103516632 | AGAGGCAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00738.hp1 others(53): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0004a0001c0005others(28): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(37): Show | a0001c0002t0001g0083 a0001c0002t0002g0005 a0001c0004t0001g0051 others(53): Show |
56 | 182 | 0.3077 | -7 | c.786 others(26): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 49/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103703695 | CTGTTCGT | C | intron_variant | MODIFIER | HG02922.hp1 NA19240.hp2 |
a0001 | a0001c0024a0001c0064 | a0001c0024t0001a0001c0064t0002 | a0001c0024t0001g0110 a0001c0064t0002g0009 |
2 | 182 | 0.0110 | -7 | c.806 others(24): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 8/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103759990 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02630.hp1 others(5): Show |
a0001a0002a0006others(2): Show | a0001c0007a0001c0008a0001c0025others(5): Show | a0001c0007t0001a0001c0008t0008a0001c0025t0001others(5): Show | a0001c0007t0001g0049 a0001c0008t0008g0001 a0001c0025t0001g0072 others(5): Show |
8 | 22 | 0.3636 | -7 | c.545 others(24): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 4/64 | chr7 | TogoVar | |||||||
REM2_chr14_22878222_22892678 | 22888841 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(251): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(33): Show |
254 | 258 | 0.9845 | -7 | c.*19 others(18): Show |
REM2 | ENSG00000139890.10 | transcript | ENST00000267396.9 | protein_coding | 1164 | chr14 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138969269 | ATTTTTTT | A | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG03927.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0003a0002c0003t0004 | a0001c0001t0001g0157 a0001c0002t0003g0332 a0001c0002t0003g0341 others(4): Show |
7 | 55 | 0.1273 | -7 | c.153 others(26): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
REPS2_chrX_16941658_17158272 | 16951552 | CACACACA | C | intron_variant | MODIFIER | HG01099.hp1 HG01255.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0056 a0001c0001t0001g0166 a0001c0001t0017g0050 |
3 | 163 | 0.0184 | -7 | c.273 others(24): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
REPS2_chrX_16941658_17158272 | 16951553 | ACACACAC | A | intron_variant | MODIFIER | HG01071.hp2 HG01243.hp1 NA18944.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0064 others(2): Show |
5 | 164 | 0.0305 | -7 | c.273 others(24): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 16956284 | GTTTTTTT | G | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00735.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0073 others(38): Show |
41 | 44 | 0.9318 | -7 | c.273 others(24): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 17037274 | GTTTCTTT | G | intron_variant | MODIFIER | HG02257.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 a0001c0001t0003g0009 |
2 | 164 | 0.0122 | -7 | c.771 others(24): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 17093193 | TATATATA | T | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG01071.hp2 others(22): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0088 others(22): Show |
25 | 164 | 0.1524 | -7 | c.151 others(28): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8386022 | ATTTTTTT | A | intron_variant | MODIFIER | HG02129.hp1 HG02132.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0018a0001c0002t0035 | a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0168 others(2): Show |
5 | 83 | 0.0602 | -7 | c.128 others(28): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8401037 | CCATATAT | C | intron_variant | MODIFIER | HG01167.hp1 HG02080.hp2 HG02451.hp1 others(8): Show |
a0001 | a0001c0002a0001c0004a0001c0023 | a0001c0002t0002a0001c0002t0013a0001c0004t0010others(1): Show | a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 others(8): Show |
11 | 144 | 0.0764 | -7 | c.128 others(28): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8403825 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00741.hp1 others(57): Show |
a0001 | a0001c0002a0001c0005a0001c0014others(3): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0006others(13): Show | a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 others(57): Show |
60 | 88 | 0.6818 | -7 | c.128 others(28): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8506200 | GTTGAGTA | G | intron_variant | MODIFIER | HG02886.hp2 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0010a0001c0004t0027 | a0001c0004t0010g0107 a0001c0004t0027g0106 |
2 | 202 | 0.0099 | -7 | c.879 others(24): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8605745 | CAAAAAAA | C | intron_variant | MODIFIER | HG01358.hp2 HG01361.hp2 HG02258.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0003t0004a0001c0010t0007others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0003t0004g0013 others(4): Show |
7 | 40 | 0.1750 | -7 | c.522 others(24): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8607534 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01168.hp2 others(2): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0004a0001c0003t0008a0001c0009t0004 | a0001c0003t0004g0016 a0001c0003t0004g0020 a0001c0003t0008g0105 others(2): Show |
5 | 19 | 0.2632 | -7 | c.522 others(24): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8711157 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(76): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0014 others(76): Show |
79 | 93 | 0.8495 | -7 | c.-14 others(28): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8731781 | TTTGTTTG | T | intron_variant | MODIFIER | HG00280.hp1 HG02109.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0014a0001c0004t0040others(2): Show | a0001c0001t0001g0057 a0001c0004t0014g0126 a0001c0004t0040g0199 others(3): Show |
6 | 50 | 0.1200 | -7 | c.-14 others(28): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8774347 | ATTTTTTT | A | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01884.hp1 others(9): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0005a0001c0002t0028others(3): Show | a0001c0001t0003g0121 a0001c0002t0005g0128 a0001c0002t0005g0129 others(9): Show |
12 | 114 | 0.1053 | -7 | c.-14 others(28): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERGL_chr12_18075869_18095193 | 18085868 | TTGAGCCA | T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(121): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(29): Show |
124 | 400 | 0.3100 | -7 | c.110 others(22): Show |
RERGL | ENSG00000111404.7 | transcript | ENST00000538724.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERGL_chr12_18075869_18095193 | 18086024 | ATTTTTTT | A | intron_variant | MODIFIER | HG06807.hp1 NA18940.hp1 NA18955.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0111 |
7 | 148 | 0.0473 | -7 | c.110 others(22): Show |
RERGL | ENSG00000111404.7 | transcript | ENST00000538724.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15106483 | TTAATATG | T | downstream_gene_variant | MODIFIER | NA18956.hp1 NA18959.hp1 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0073 a0001c0001t0001g0074 others(1): Show |
4 | 298 | 0.0134 | -7 | c.*26 others(18): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 1299 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15148847 | GTTTTTTT | G | intron_variant | MODIFIER | HG00609.hp1 HG02015.hp2 HG02055.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0110 a0001c0001t0002g0012 a0001c0001t0002g0042 others(8): Show |
11 | 53 | 0.2075 | -7 | c.62- others(24): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RESF1_chr12_31954415_31998107 | 31972605 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01081.hp1 others(10): Show |
a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0006 a0010c0011t0001g0161 a0010c0011t0001g0163 others(6): Show |
13 | 127 | 0.1024 | -7 | c.-79 others(24): Show |
RESF1 | ENSG00000174718.12 | transcript | ENST00000312561.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RESP18_chr2_219322407_219338177 | 219323751 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG02257.hp2 others(24): Show |
a0002a0003a0004 | a0002c0002a0002c0003a0003c0004others(1): Show | a0002c0002t0001a0002c0003t0001a0003c0004t0001others(1): Show | a0002c0002t0001g0054 a0002c0003t0001g0005 a0002c0003t0001g0009 others(11): Show |
27 | 176 | 0.1534 | -7 | c.*37 others(18): Show |
RESP18 | ENSG00000182698.12 | transcript | ENST00000333527.6 | protein_coding | 3655 | chr2 | TogoVar | |||||||
RESP18_chr2_219322407_219338177 | 219333115 | AATATTAT | A | intron_variant | MODIFIER | HG02257.hp2 NA18964.hp1 NA18990.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0002c0003t0001g0016 |
4 | 417 | 0.0096 | -7 | c.17+ others(18): Show |
RESP18 | ENSG00000182698.12 | transcript | ENST00000333527.6 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
REST_chr4_56902900_56940844 | 56940233 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02622.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0031 | a0002c0002t0001g0025 a0002c0002t0001g0295 a0002c0002t0031g0213 |
5 | 406 | 0.0123 | -7 | c.*80 others(18): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 4390 | chr4 | TogoVar | |||||||
RETREG1_chr5_16468053_16621997 | 16537765 | CCATGCAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00544.hp1 others(155): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(20): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 others(155): Show |
158 | 292 | 0.5411 | -7 | c.458 others(26): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
RETREG3_chr17_42574515_42614374 | 42596359 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01070.hp2 others(17): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0034 others(13): Show |
20 | 27 | 0.7407 | -7 | c.240 others(24): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
RETREG3_chr17_42574515_42614374 | 42597590 | TATATATA | T | intron_variant | MODIFIER | HG00609.hp1 HG01071.hp2 HG02280.hp1 others(17): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0024 a0001c0001t0002g0190 a0001c0001t0002g0205 others(16): Show |
20 | 188 | 0.1064 | -7 | c.240 others(24): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
REV1_chr2_99395477_99495017 | 99441123 | CGTATTCT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(40): Show |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0001a0005c0005t0001 | a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0054 others(38): Show |
43 | 322 | 0.1335 | -7 | c.503 others(24): Show |
REV1 | ENSG00000135945.10 | transcript | ENST00000258428.8 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
REV1_chr2_99395477_99495017 | 99454550 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(205): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0015a0003c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0051 a0001c0001t0001g0108 a0001c0001t0001g0129 others(200): Show |
208 | 222 | 0.9369 | -7 | c.182 others(24): Show |
REV1 | ENSG00000135945.10 | transcript | ENST00000258428.8 | protein_coding | 3/22 | chr2 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111295102 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp1 others(100): Show |
a0001a0002a0007others(5): Show | a0001c0001a0002c0002a0002c0015others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(8): Show | a0001c0001t0001g0130 a0002c0002t0001g0001 a0002c0002t0001g0005 others(99): Show |
103 | 217 | 0.4747 | -7 | c.*49 others(18): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 3930 | chr6 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111338312 | CTTTTTTT | C | intron_variant | MODIFIER | HG02040.hp1 HG02622.hp2 HG02895.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0001c0001t0002a0002c0009t0001others(1): Show | a0001c0001t0001g0074 a0001c0001t0002g0042 a0001c0001t0002g0051 others(3): Show |
6 | 31 | 0.1935 | -7 | c.753 others(26): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 21/31 | chr6 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39298307 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01109.hp2 others(61): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0212 a0001c0001t0001g0261 a0001c0001t0001g0262 others(61): Show |
64 | 73 | 0.8767 | -7 | c.280 others(26): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 21/24 | chr4 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39329127 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG01433.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 a0001c0002t0002g0132 a0001c0002t0002g0133 others(5): Show |
8 | 25 | 0.3200 | -7 | c.332 others(24): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 4/24 | chr4 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16358448 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01192.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0007 | a0001c0001t0001g0011 a0001c0001t0001g0069 a0001c0001t0001g0070 others(6): Show |
9 | 262 | 0.0344 | -7 | c.103 others(24): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 6/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16403589 | TATATATA | T | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp1 HG03471.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0003others(1): Show | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0002t0002g0179 others(3): Show |
6 | 266 | 0.0226 | -7 | c.441 others(24): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16403703 | TGTATATA | T | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01192.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0007a0002c0003t0004 | a0001c0001t0001g0018 a0001c0001t0001g0075 a0001c0001t0001g0149 others(4): Show |
7 | 214 | 0.0327 | -7 | c.441 others(24): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16404021 | TATATATA | T | intron_variant | MODIFIER | HG01943.hp1 HG02280.hp2 HG02630.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0001g0083 a0001c0001t0001g0118 a0001c0001t0001g0130 others(21): Show |
24 | 255 | 0.0941 | -7 | c.441 others(24): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFX1_chr19_13956530_14011320 | 13970661 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02809.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0256 a0001c0001t0003g0259 a0001c0001t0004g0257 others(6): Show |
9 | 94 | 0.0957 | -7 | c.131 others(24): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 9/20 | chr19 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3369995 | ATTTTTTT | A | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00639.hp2 others(26): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0039 a0001c0001t0001g0092 a0001c0001t0001g0170 others(26): Show |
29 | 140 | 0.2071 | -7 | c.118 others(26): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 2/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3470496 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00673.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0034 others(63): Show |
66 | 181 | 0.3646 | -7 | c.-9+ others(24): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3493699 | AAATATAT | A | intron_variant | MODIFIER | HG01099.hp2 HG02257.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0018a0001c0001t0036 | a0001c0001t0012g0025 a0001c0001t0012g0165 a0001c0001t0018g0023 others(2): Show |
5 | 153 | 0.0327 | -7 | c.-9+ others(24): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3493701 | ATATATAT | A | intron_variant | MODIFIER | HG02818.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0048 a0001c0001t0005g0036 |
2 | 185 | 0.0108 | -7 | c.-9+ others(24): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
RFX4_chr12_106578004_106767803 | 106591261 | CCTTTTTT | C | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 others(3): Show |
6 | 230 | 0.0261 | -7 | c.43+ others(22): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 1/17 | chr12 | TogoVar | |||||||
RFX6_chr6_116872242_116937161 | 116903657 | ATATTGTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01175.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0016 a0001c0002t0002g0208 a0001c0002t0002g0235 others(3): Show |
7 | 370 | 0.0189 | -7 | c.673 others(24): Show |
RFX6 | ENSG00000185002.10 | transcript | ENST00000332958.3 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RFX7_chr15_56082280_56248879 | 56097746 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00639.hp2 others(12): Show |
a0001 | a0001c0002a0001c0017 | a0001c0002t0002a0001c0002t0009a0001c0002t0038others(1): Show | a0001c0002t0002g0048 a0001c0002t0002g0062 a0001c0002t0002g0073 others(12): Show |
15 | 31 | 0.4839 | -7 | c.110 others(24): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 9/9 | chr15 | TogoVar | |||||||
RFX7_chr15_56082280_56248879 | 56131534 | CAGGCATG | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(90): Show |
a0001a0004a0009 | a0001c0002a0001c0004a0001c0017others(2): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0025others(7): Show | a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 others(90): Show |
93 | 358 | 0.2598 | -7 | c.401 others(26): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 5/9 | chr15 | TogoVar |