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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPS6KA6_chrX_84053350_84193199 | 84062952 | T | TAGTAGCA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG02071.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0020a0002c0002t0021others(4): Show | a0002c0002t0006g0027 a0002c0002t0006g0028 a0002c0002t0006g0031 others(15): Show |
18 | 227 | 0.0793 | 9 | c.*13 others(20): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 22/22 | 1324 | chrX | TogoVar | ||||||
RPS6KL1_chr14_74898951_74928260 | 74924542 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01952.hp2 HG01993.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0003g0003 a0001c0001t0003g0084 a0001c0001t0003g0119 others(5): Show |
8 | 97 | 0.0825 | 9 | c.-18 others(20): Show |
RPS6KL1 | ENSG00000198208.12 | transcript | ENST00000557413.6 | protein_coding | 1283 | chr14 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23759522 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG02071.hp1 HG02258.hp2 others(8): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0004a0001c0001t0012a0001c0001t0042others(6): Show | a0001c0001t0004g0053 a0001c0001t0012g0206 a0001c0001t0012g0214 others(8): Show |
11 | 18 | 0.6111 | 9 | c.-39 others(20): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 3481 | chr19 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23789019 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(137): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0012a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(55): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0245 others(135): Show |
140 | 234 | 0.5983 | 9 | c.-30 others(30): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23808272 | A | AATTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(103): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0005others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(39): Show | a0001c0001t0001g0272 a0001c0001t0007g0066 a0001c0001t0015g0050 others(103): Show |
106 | 114 | 0.9298 | 9 | c.-18 others(26): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80626776 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01109.hp2 others(15): Show |
a0001 | a0001c0006a0001c0009a0001c0016others(12): Show | a0001c0006t0063a0001c0009t0028a0001c0016t0029others(14): Show | a0001c0006t0063g0160 a0001c0009t0028g0113 a0001c0016t0029g0184 others(15): Show |
18 | 52 | 0.3462 | 9 | c.265 others(26): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80785336 | A | ATATTTTA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0007a0001c0009a0001c0056others(1): Show | a0001c0007t0030a0001c0009t0012a0001c0056t0001others(1): Show | a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0009t0012g0106 others(2): Show |
5 | 194 | 0.0258 | 9 | c.831 others(26): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 6/33 | chr17 | TogoVar | |||||||
RPUSD2_chr15_40564299_40579949 | 40577079 | T | TTTTATTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01346.hp2 HG02040.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0010 |
5 | 316 | 0.0158 | 9 | c.*28 others(20): Show |
RPUSD2 | ENSG00000166133.18 | transcript | ENST00000315616.12 | protein_coding | 2131 | chr15 | TogoVar | |||||||
RRAD_chr16_66916685_66930535 | 66924678 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02071.hp1 HG02451.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0019 |
19 | 304 | 0.0625 | 9 | c.370 others(24): Show |
RRAD | ENSG00000166592.13 | transcript | ENST00000299759.11 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
RRAGD_chr6_89359616_89417273 | 89402038 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01123.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(8): Show | a0001c0001t0004g0305 a0001c0001t0004g0308 a0001c0001t0006g0084 others(19): Show |
22 | 102 | 0.2157 | 9 | c.148 others(26): Show |
RRAGD | ENSG00000025039.15 | transcript | ENST00000369415.9 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
RREB1_chr6_7102961_7256980 | 7108316 | T | TTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(47): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0017a0002c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(27): Show | a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0259 others(47): Show |
50 | 274 | 0.1825 | 9 | c.-28 others(26): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RRM1_chr11_4089799_4143932 | 4099295 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00642.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 others(16): Show |
19 | 41 | 0.4634 | 9 | c.20- others(24): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RRM1_chr11_4089799_4143932 | 4133980 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02056.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0012 a0001c0001t0001g0126 a0001c0001t0001g0193 others(5): Show |
9 | 71 | 0.1268 | 9 | c.200 others(26): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RRM2_chr2_10117739_10136414 | 10135199 | T | TGAATCAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02809.hp2 HG02965.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0008 a0001c0002t0004g0026 a0001c0002t0004g0027 |
9 | 356 | 0.0253 | 9 | c.*58 others(20): Show |
RRM2 | ENSG00000171848.16 | transcript | ENST00000304567.10 | protein_coding | 3786 | chr2 | TogoVar | |||||||
RS1_chrX_18634688_18677108 | 18657217 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01361.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0262 others(10): Show |
13 | 181 | 0.0718 | 9 | c.78+ others(22): Show |
RS1 | ENSG00000102104.9 | transcript | ENST00000379984.4 | protein_coding | 2/5 | chrX | TogoVar | |||||||
RSAD1_chr17_50473860_50490974 | 50483211 | A | AAAGAAAG others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02809.hp2 HG02965.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0010 | a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0010g0039 |
3 | 367 | 0.0082 | 9 | c.905 others(24): Show |
RSAD1 | ENSG00000136444.10 | transcript | ENST00000258955.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77739739 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02074.hp1 HG02129.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0019 | a0001c0001t0003g0151 a0001c0001t0003g0157 a0001c0001t0003g0160 others(6): Show |
9 | 35 | 0.2571 | 9 | c.703 others(26): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77742180 | A | ATACACAC others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01255.hp1 HG01884.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0063 others(30): Show |
33 | 180 | 0.1833 | 9 | c.703 others(26): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
RSBN1_chr1_113756832_113817476 | 113808103 | G | GCAGTATC others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0013 a0001c0003t0002g0044 |
3 | 338 | 0.0089 | 9 | c.703 others(26): Show |
RSBN1 | ENSG00000081019.14 | transcript | ENST00000261441.9 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77658011 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00741.hp1 others(11): Show |
a0001a0007 | a0001c0001a0001c0017a0007c0012 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0095 a0001c0001t0001g0302 a0001c0001t0001g0305 others(11): Show |
14 | 19 | 0.7368 | 9 | c.*89 others(20): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1997 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77686408 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG01074.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0041a0001c0002t0003others(5): Show | a0001c0001t0006g0118 a0001c0001t0006g0121 a0001c0001t0006g0127 others(19): Show |
22 | 95 | 0.2316 | 9 | c.290 others(28): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 9/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77692233 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02895.hp2 HG02897.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0311 a0001c0001t0002g0003 a0001c0001t0002g0004 others(6): Show |
9 | 137 | 0.0657 | 9 | c.282 others(27): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 8/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77729895 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(26): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0007 | a0001c0001t0001a0002c0003t0002a0005c0007t0001 | a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0088 others(26): Show |
29 | 89 | 0.3258 | 9 | c.579 others(26): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77762027 | C | CTTTTTTC others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02080.hp2 HG02083.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0016 | a0001c0001t0004a0001c0001t0007a0003c0016t0045 | a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 others(8): Show |
11 | 167 | 0.0659 | 9 | c.279 others(26): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 2/15 | chr11 | TogoVar | |||||||
RSL1D1_chr16_11828850_11856542 | 11853412 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(75): Show |
a0001a0008 | a0001c0001a0001c0003a0008c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0053 a0001c0001t0003g0007 a0001c0001t0003g0023 others(48): Show |
78 | 304 | 0.2566 | 9 | c.-19 others(20): Show |
RSL1D1 | ENSG00000171490.13 | transcript | ENST00000571133.6 | protein_coding | 1871 | chr16 | TogoVar | |||||||
RSPH10B2_chr7_6749103_6803765 | 6783819 | G | GAATAATA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(9): Show |
a0002a0004a0012 | a0002c0005a0004c0003a0012c0030 | a0002c0005t0001a0004c0003t0001a0012c0030t0001 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0082 others(9): Show |
12 | 98 | 0.1224 | 9 | c.175 others(28): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6783838 | A | AATAATAA others(2): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02148.hp1 HG02922.hp1 others(3): Show |
a0002a0004 | a0002c0005a0004c0003 | a0002c0005t0001a0004c0003t0001 | a0002c0005t0001g0029 a0002c0005t0001g0043 a0002c0005t0001g0070 others(3): Show |
6 | 100 | 0.0600 | 9 | c.175 others(28): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH1_chr21_42467486_42501224 | 42477027 | G | GCCCCCTC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(54): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0144 a0001c0001t0001g0190 a0001c0001t0001g0204 others(47): Show |
57 | 369 | 0.1545 | 9 | c.727 others(24): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477029 | C | CCCCTCCA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01361.hp2 HG01433.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001a0002c0003t0003 | a0001c0001t0002g0151 a0001c0001t0002g0332 a0002c0003t0001g0325 others(6): Show |
9 | 378 | 0.0238 | 9 | c.727 others(24): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477223 | G | GACCCCTC others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02735.hp2 NA18942.hp2 others(1): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0012 | a0001c0001t0001a0001c0002t0002a0009c0012t0001 | a0001c0001t0001g0309 a0001c0002t0002g0093 a0001c0002t0002g0106 others(1): Show |
4 | 392 | 0.0102 | 9 | c.727 others(22): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477223 | G | GCCCCCTC others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0230 a0001c0001t0001g0334 a0001c0001t0002g0297 others(4): Show |
7 | 395 | 0.0177 | 9 | c.727 others(22): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477225 | C | CCCCTCCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(131): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0041 others(120): Show |
134 | 255 | 0.5255 | 9 | c.727 others(22): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH4A_chr6_116611479_116637985 | 116614714 | C | CTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0010t0004 | a0001c0001t0004g0015 a0001c0001t0004g0035 a0001c0001t0004g0067 others(2): Show |
7 | 289 | 0.0242 | 9 | c.-19 others(20): Show |
RSPH4A | ENSG00000111834.13 | transcript | ENST00000229554.10 | protein_coding | 1764 | chr6 | TogoVar | |||||||
RSPH4A_chr6_116611479_116637985 | 116616606 | T | TTCACGCC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0010t0004 | a0001c0001t0004g0015 a0001c0001t0004g0035 a0001c0001t0004g0067 others(2): Show |
8 | 396 | 0.0202 | 9 | c.-17 others(16): Show |
RSPH4A | ENSG00000111834.13 | transcript | ENST00000229554.10 | protein_coding | 1/6 | 16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RSPH6A_chr19_45790713_45820308 | 45804713 | T | TCTCCTGG others(2): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0035 a0004c0006t0001g0036 |
4 | 422 | 0.0095 | 9 | c.119 others(18): Show |
p.Glu others(22): Show |
RSPH6A | ENSG00000104941.8 | transcript | ENST00000221538.8 | protein_coding | 3/6 | 1323/2442 | 1191/2154 | 397/717 | chr19 | TogoVar | |||
RSPO1_chr1_37606350_37639892 | 37620629 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01496.hp1 others(15): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0129 a0001c0001t0001g0135 others(10): Show |
18 | 219 | 0.0822 | 9 | c.95- others(24): Show |
RSPO1 | ENSG00000169218.14 | transcript | ENST00000356545.7 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
RSPO2_chr8_107894316_108088620 | 107948866 | A | ATAAATAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(66): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007a0002c0002t0014others(2): Show | a0002c0002t0001g0011 a0002c0002t0001g0021 a0002c0002t0001g0030 others(66): Show |
69 | 196 | 0.3520 | 9 | c.616 others(26): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 5/5 | chr8 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158364816 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00597.hp2 others(32): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0166 others(32): Show |
35 | 89 | 0.3933 | 9 | c.583 others(26): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158487949 | G | GGAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp1 others(22): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0242 others(22): Show |
25 | 77 | 0.3247 | 9 | c.652 others(28): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16783364 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02976.hp1 HG03654.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0004a0002c0004t0003others(1): Show | a0001c0002t0001g0084 a0001c0002t0001g0101 a0001c0002t0001g0146 others(4): Show |
7 | 78 | 0.0897 | 9 | c.110 others(26): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693462 | T | TTCACCAC others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03225.hp2 HG03239.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0052 others(1): Show |
4 | 25 | 0.1600 | 9 | c.299 others(26): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693732 | T | TCCACCTC others(2): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02451.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0007 a0001c0007t0002g0013 |
2 | 10 | 0.2000 | 9 | c.299 others(26): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RTF2_chr20_56463627_56524449 | 56505487 | C | CATAATAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(153): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(99): Show |
156 | 196 | 0.7959 | 9 | c.478 others(26): Show |
RTF2 | ENSG00000022277.13 | transcript | ENST00000357348.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RTL10_chr22_19841146_19859874 | 19847804 | C | CAAAAAAA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02896.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0023a0001c0001t0038a0001c0006t0040 | a0001c0001t0023g0027 a0001c0001t0038g0044 a0001c0006t0040g0045 |
7 | 176 | 0.0398 | 9 | c.*33 others(20): Show |
RTL10 | ENSG00000215012.9 | transcript | ENST00000328554.9 | protein_coding | 3/3 | 3362 | chr22 | TogoVar | ||||||
RTL1_chr14_100874753_100908722 | 100905146 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(208): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(192): Show |
211 | 236 | 0.8941 | 9 | c.-17 others(20): Show |
RTL1 | ENSG00000254656.3 | transcript | ENST00000649591.1 | protein_coding | 1425 | chr14 | TogoVar | |||||||
RTL6_chr22_44487583_44503233 | 44498609 | A | ATTGTGAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(101): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0004g0004 others(12): Show |
104 | 308 | 0.3377 | 9 | c.-82 others(18): Show |
RTL6 | ENSG00000188636.4 | transcript | ENST00000341255.4 | protein_coding | 377 | chr22 | TogoVar | |||||||
RTN2_chr19_45480294_45502047 | 45482011 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01943.hp2 HG02055.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0126 others(9): Show |
12 | 326 | 0.0368 | 9 | c.*36 others(20): Show |
RTN2 | ENSG00000125744.12 | transcript | ENST00000245923.9 | protein_coding | 3282 | chr19 | TogoVar | |||||||
RTN2_chr19_45480294_45502047 | 45482022 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(115): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(57): Show |
118 | 407 | 0.2899 | 9 | c.*36 others(20): Show |
RTN2 | ENSG00000125744.12 | transcript | ENST00000245923.9 | protein_coding | 3271 | chr19 | TogoVar | |||||||
RTN3_chr11_63676500_63764882 | 63735601 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03017.hp2 NA20805.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0005a0003c0003t0005 | a0001c0001t0001g0057 a0002c0002t0005g0095 a0003c0003t0005g0096 |
3 | 162 | 0.0185 | 9 | c.253 others(30): Show |
RTN3 | ENSG00000133318.14 | transcript | ENST00000377819.10 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106566464 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 HG03516.hp1 NA18522.hp2 others(9): Show |
a0001 | a0001c0003a0001c0011 | a0001c0003t0002a0001c0011t0002 | a0001c0003t0002g0012 a0001c0003t0002g0013 a0001c0003t0002g0057 others(8): Show |
12 | 78 | 0.1538 | 9 | c.*55 others(20): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 4306 | chr6 | TogoVar |