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 | 84059114 | CTTTTTTT others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG02056.hp1 NA18953.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0047 | a0002c0002t0009g0047 a0002c0002t0009g0049 a0002c0002t0009g0065 others(2): Show |
5 | 272 | 0.0184 | -13 | c.*51 others(24): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 22/22 | 5150 | chrX | TogoVar | ||||||
RPS6KB1_chr17_59888121_59955574 | 59889381 | GAGAGGCT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01109.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0219 a0001c0001t0004g0229 a0001c0001t0004g0230 others(18): Show |
21 | 304 | 0.0691 | -13 | c.-38 others(24): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 3739 | chr17 | TogoVar | |||||||
RPS6KC1_chr1_213046241_213279774 | 213165438 | TTTTGAGA others(6): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 330 | 0.0030 | -13 | c.836 others(30): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 6/14 | chr1 | TogoVar | |||||||
RPS6KC1_chr1_213046241_213279774 | 213174670 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19030.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0095 a0001c0001t0009g0096 |
2 | 330 | 0.0061 | -13 | c.952 others(30): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213209695 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02970.hp2 HG03139.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 |
3 | 330 | 0.0091 | -13 | c.104 others(34): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213244528 | TTTGTGCT others(6): Show |
T | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 330 | 0.0030 | -13 | c.291 others(32): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213257786 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02145.hp2 NA18906.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0012 | a0001c0001t0001g0243 a0001c0001t0009g0095 a0001c0001t0009g0096 others(1): Show |
4 | 330 | 0.0121 | -13 | c.291 others(32): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23805146 | CACACACA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(339): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0012a0001c0015others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(140): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0247 others(336): Show |
342 | 366 | 0.9344 | -13 | c.-30 others(32): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80588425 | TGTTGGGA others(6): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02109.hp2 others(15): Show |
a0001a0002 | a0001c0004a0001c0005a0001c0006others(13): Show | a0001c0004t0035a0001c0005t0026a0001c0005t0067others(14): Show | a0001c0004t0035g0004 a0001c0005t0026g0109 a0001c0005t0067g0111 others(15): Show |
18 | 196 | 0.0918 | -13 | c.163 others(32): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80634686 | ACTGTGTG others(6): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG03209.hp2 NA20300.hp2 |
a0001a0002a0005 | a0001c0008a0002c0062a0005c0092 | a0001c0008t0027a0002c0062t0018a0005c0092t0012 | a0001c0008t0027g0143 a0002c0062t0018g0191 a0005c0092t0012g0163 |
3 | 196 | 0.0153 | -13 | c.265 others(30): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80634706 | GTGTGTGT others(6): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0021 | a0001c0021t0065 | a0001c0021t0065g0112 | 1 | 196 | 0.0051 | -13 | c.265 others(30): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80634860 | GTGTGTGT others(6): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0025 | a0001c0025t0052 | a0001c0025t0052g0181 | 1 | 196 | 0.0051 | -13 | c.266 others(30): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80674787 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(35): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0019others(29): Show | a0001c0001t0002g0038 a0001c0001t0005g0044 a0001c0001t0005g0046 others(35): Show |
38 | 196 | 0.1939 | -13 | c.348 others(32): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80952855 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(28): Show |
a0001 | a0001c0004a0001c0005a0001c0010others(17): Show | a0001c0004t0035a0001c0005t0075a0001c0010t0009others(26): Show | a0001c0004t0035g0004 a0001c0005t0075g0009 a0001c0010t0009g0058 others(28): Show |
31 | 196 | 0.1582 | -13 | c.337 others(32): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 28/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPUSD2_chr15_40564299_40579949 | 40568286 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 392 | 0.0026 | -13 | c.-10 others(24): Show |
RPUSD2 | ENSG00000166133.18 | transcript | ENST00000315616.12 | protein_coding | 1012 | chr15 | TogoVar | |||||||
RPUSD4_chr11_126197096_126216650 | 126214501 | TTGTTTTT others(6): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(147): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0004a0001c0009others(4): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0008others(8): Show | a0001c0002t0001g0001 a0001c0002t0001g0013 a0001c0002t0001g0025 others(40): Show |
150 | 416 | 0.3606 | -13 | c.-28 others(24): Show |
RPUSD4 | ENSG00000165526.9 | transcript | ENST00000298317.9 | protein_coding | 2852 | chr11 | TogoVar | |||||||
RPUSD4_chr11_126197096_126216650 | 126214503 | GTTTTTTT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02622.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0005 | a0001c0003t0001g0038 a0001c0003t0001g0041 a0001c0003t0001g0042 others(1): Show |
10 | 416 | 0.0240 | -13 | c.-28 others(24): Show |
RPUSD4 | ENSG00000165526.9 | transcript | ENST00000298317.9 | protein_coding | 2854 | chr11 | TogoVar | |||||||
RRAGA_chr9_19044427_19056025 | 19045316 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01081.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(1): Show |
80 | 446 | 0.1794 | -13 | c.-43 others(24): Show |
RRAGA | ENSG00000155876.6 | transcript | ENST00000380527.3 | protein_coding | 4110 | chr9 | TogoVar | |||||||
RRAGC_chr1_38833198_38864772 | 38855318 | TAAGACTC others(6): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0133 a0001c0001t0001g0134 others(1): Show |
5 | 418 | 0.0120 | -13 | c.641 others(28): Show |
RRAGC | ENSG00000116954.8 | transcript | ENST00000373001.4 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
RRBP1_chr20_17608679_17687242 | 17616321 | CCTCTTGG others(6): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0024 | a0024c0027 | a0024c0027t0001 | a0024c0027t0001g0010 | 2 | 350 | 0.0057 | -13 | c.386 others(30): Show |
RRBP1 | ENSG00000125844.17 | transcript | ENST00000377813.6 | protein_coding | 21/24 | chr20 | TogoVar | |||||||
RREB1_chr6_7102961_7256980 | 7117388 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01978.hp2 HG02109.hp1 others(5): Show |
a0001a0002a0003others(4): Show | a0001c0003a0002c0001a0003c0004others(4): Show | a0001c0003t0015a0002c0001t0001a0003c0004t0003others(5): Show | a0001c0003t0015g0044 a0002c0001t0001g0043 a0003c0004t0003g0229 others(5): Show |
8 | 292 | 0.0274 | -13 | c.-28 others(32): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RRM2_chr2_10117739_10136414 | 10126186 | AAAAAAAG others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0003g0032 others(7): Show |
25 | 358 | 0.0698 | -13 | c.570 others(28): Show |
RRM2 | ENSG00000171848.16 | transcript | ENST00000304567.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RRP12_chr10_97351701_97406340 | 97365403 | AGCTGGGA others(6): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02895.hp2 HG02970.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0244 a0001c0008t0001g0245 a0001c0008t0001g0261 |
3 | 400 | 0.0075 | -13 | c.351 others(30): Show |
RRP12 | ENSG00000052749.14 | transcript | ENST00000370992.9 | protein_coding | 29/33 | chr10 | TogoVar | |||||||
RRP12_chr10_97351701_97406340 | 97398026 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG01358.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0273 | 1 | 400 | 0.0025 | -13 | c.370 others(30): Show |
RRP12 | ENSG00000052749.14 | transcript | ENST00000370992.9 | protein_coding | 2/33 | chr10 | TogoVar | |||||||
RRP1B_chr21_43654560_43701079 | 43673634 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02109.hp2 others(26): Show |
a0001a0003a0007others(1): Show | a0001c0005a0003c0004a0007c0019others(1): Show | a0001c0005t0010a0001c0005t0024a0003c0004t0004others(4): Show | a0001c0005t0010g0105 a0001c0005t0010g0106 a0001c0005t0010g0107 others(16): Show |
29 | 372 | 0.0780 | -13 | c.272 others(28): Show |
RRP1B | ENSG00000160208.13 | transcript | ENST00000340648.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RRP1_chr21_43784577_43810293 | 43802757 | CCTTCTTC others(6): Show |
C | intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0094 | 1 | 394 | 0.0025 | -13 | c.112 others(30): Show |
RRP1 | ENSG00000160214.13 | transcript | ENST00000497547.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RRP1_chr21_43784577_43810293 | 43809180 | TAGCAACC others(6): Show |
T | downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0108 | 1 | 394 | 0.0025 | -13 | c.*54 others(24): Show |
RRP1 | ENSG00000160214.13 | transcript | ENST00000497547.2 | protein_coding | 3888 | chr21 | TogoVar | |||||||
RRP7A_chr22_42503344_42524796 | 42505836 | TTGGGAAG others(6): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0011a0003c0004t0044a0003c0004t0045others(8): Show | a0003c0004t0011g0027 a0003c0004t0011g0047 a0003c0004t0011g0211 others(13): Show |
22 | 388 | 0.0567 | -13 | c.*70 others(24): Show |
RRP7A | ENSG00000189306.11 | transcript | ENST00000323013.7 | protein_coding | 2507 | chr22 | TogoVar | |||||||
RRP7A_chr22_42503344_42524796 | 42507699 | ACAGCTAG others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02015.hp1 HG02155.hp2 NA18953.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0004a0002c0001t0005a0002c0001t0030others(1): Show | a0002c0001t0004g0003 a0002c0001t0005g0010 a0002c0001t0030g0090 others(1): Show |
4 | 388 | 0.0103 | -13 | c.*51 others(24): Show |
RRP7A | ENSG00000189306.11 | transcript | ENST00000323013.7 | protein_coding | 644 | chr22 | TogoVar | |||||||
RRP7A_chr22_42503344_42524796 | 42517342 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0001 | a0002c0001t0073 | a0002c0001t0073g0063 | 1 | 388 | 0.0026 | -13 | c.216 others(28): Show |
RRP7A | ENSG00000189306.11 | transcript | ENST00000323013.7 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
RSBN1L_chr7_77691459_77788022 | 77703477 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0237 | 1 | 336 | 0.0030 | -13 | c.586 others(30): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSF1_chr11_77655009_77825722 | 77658011 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0229 | 1 | 352 | 0.0028 | -13 | c.*88 others(24): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1997 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77798581 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02630.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0010a0001c0002t0033 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0002t0010g0013 others(1): Show |
4 | 352 | 0.0114 | -13 | c.187 others(32): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
RSKR_chr17_28602963_28619185 | 28615034 | TCCTGTAC others(6): Show |
T | upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0025 | 1 | 362 | 0.0028 | -13 | c.-88 others(22): Show |
RSKR | ENSG00000167524.17 | transcript | ENST00000301037.11 | protein_coding | 850 | chr17 | TogoVar | |||||||
RSL1D1_chr16_11828850_11856542 | 11842333 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02630.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0041 a0001c0001t0009g0150 a0001c0001t0009g0151 others(3): Show |
7 | 406 | 0.0172 | -13 | c.636 others(28): Show |
RSL1D1 | ENSG00000171490.13 | transcript | ENST00000571133.6 | protein_coding | 5/8 | chr16 | TogoVar | |||||||
RSL1D1_chr16_11828850_11856542 | 11855946 | GTTTTTTT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG01515.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0203 a0001c0001t0009g0041 |
2 | 406 | 0.0049 | -13 | c.-44 others(24): Show |
RSL1D1 | ENSG00000171490.13 | transcript | ENST00000571133.6 | protein_coding | 4405 | chr16 | TogoVar | |||||||
RSPH10B2_chr7_6749103_6803765 | 6779974 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0026 | a0026c0012 | a0026c0012t0001 | a0026c0012t0001g0099 | 1 | 108 | 0.0093 | -13 | c.152 others(30): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B_chr7_5921136_5975689 | 5969147 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02071.hp1 |
a0006a0011 | a0006c0006a0011c0021 | a0006c0006t0001a0011c0021t0001 | a0006c0006t0001g0021 a0011c0021t0001g0009 |
2 | 70 | 0.0286 | -13 | c.-20 others(32): Show |
RSPH10B | ENSG00000155026.17 | transcript | ENST00000404406.6 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
RSPH14_chr22_23054415_23146990 | 23108577 | TGGATCCT others(6): Show |
T | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 314 | 0.0032 | -13 | c.421 others(32): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
RSPH6A_chr19_45790713_45820308 | 45794413 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0022 |
2 | 424 | 0.0047 | -13 | c.*14 others(24): Show |
RSPH6A | ENSG00000104941.8 | transcript | ENST00000221538.8 | protein_coding | 1299 | chr19 | TogoVar | |||||||
RSPH6A_chr19_45790713_45820308 | 45806670 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0330 | 1 | 424 | 0.0024 | -13 | c.889 others(30): Show |
RSPH6A | ENSG00000104941.8 | transcript | ENST00000221538.8 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
RSPH6A_chr19_45790713_45820308 | 45815500 | GCCCCGCC others(6): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG02080.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0044 others(16): Show |
24 | 424 | 0.0566 | -13 | c.-33 others(22): Show |
RSPH6A | ENSG00000104941.8 | transcript | ENST00000221538.8 | protein_coding | 193 | chr19 | TogoVar | |||||||
RSPH6A_chr19_45790713_45820308 | 45817417 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(102): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0007others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(77): Show |
105 | 424 | 0.2476 | -13 | c.-22 others(24): Show |
RSPH6A | ENSG00000104941.8 | transcript | ENST00000221538.8 | protein_coding | 2110 | chr19 | TogoVar | |||||||
RSPH9_chr6_43640036_43677600 | 43649850 | TCATTTAA others(6): Show |
T | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0109 | 1 | 342 | 0.0029 | -13 | c.228 others(28): Show |
RSPH9 | ENSG00000172426.16 | transcript | ENST00000372163.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RSPH9_chr6_43640036_43677600 | 43656032 | CCTTCCCC others(6): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01358.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0137 others(8): Show |
14 | 342 | 0.0409 | -13 | c.523 others(28): Show |
RSPH9 | ENSG00000172426.16 | transcript | ENST00000372163.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RSPH9_chr6_43640036_43677600 | 43656057 | CTTCTTTC others(6): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0063 | 1 | 342 | 0.0029 | -13 | c.523 others(28): Show |
RSPH9 | ENSG00000172426.16 | transcript | ENST00000372163.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RSPO2_chr8_107894316_108088620 | 107982006 | CAACAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02451.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0021others(1): Show | a0001c0001t0002g0060 a0001c0001t0004g0234 a0001c0001t0004g0235 others(4): Show |
7 | 240 | 0.0292 | -13 | c.283 others(30): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
RSPO2_chr8_107894316_108088620 | 108003303 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0205 others(3): Show |
6 | 240 | 0.0250 | -13 | c.95- others(30): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
RSPO2_chr8_107894316_108088620 | 108003305 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0003 | 1 | 240 | 0.0042 | -13 | c.95- others(30): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
RSPO2_chr8_107894316_108088620 | 108003309 | ATATTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 | 1 | 240 | 0.0042 | -13 | c.95- others(30): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 2/5 | chr8 | TogoVar |