Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBBP7_chrX_16839341_16875362	16866554	A A	AAAAAAAG others(12): Show AAAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0168 a0001c0001t0004g0168	1	170	0.0059	19	c.161 others(36): Show c.161+2521_161+2522insCTTTCTTTCTTTCTTTTTT	RBBP7	ENSG00000102054.18	transcript	ENST00000380087.7	protein_coding	2/11			chrX	TogoVar
RBBP7_chrX_16839341_16875362	16870542	C C	CCGCGGAG others(12): Show CCGCGGAGGCGGATGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	314	0.0032	19	c.-49 others(28): Show c.-490_-489insCGCCCCATCCGCCTCCGCG	RBBP7	ENSG00000102054.18	transcript	ENST00000380087.7	protein_coding		181		chrX	TogoVar
RBBP8_chr18_22928328_23031486	22929510	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	45	0.0222	19	c.-41 others(30): Show c.-4153_-4152insTGTGTGTGTGTGTGTGTTT	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding		3817		chr18	TogoVar
RBCK1_chr20_403299_437139	407982	C C	CCGCCCAC others(12): Show CCGCCCACCCCGCCTCGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	2	97	0.0206	19	c.-77 others(28): Show c.-776_-775insCGCCCACCCCGCCTCGCGG	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding		316		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6193358	A A	ATATATAT others(12): Show ATATATATATATATACACAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0045 a0001c0001t0015g0045	1	68	0.0147	19	c.-12 others(42): Show c.-126-123623_-126-123622insCACATTATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6542483	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0001 a0001c0001t0029g0001	1	2	0.5000	19	c.-63 others(40): Show c.-63-112114_-63-112096dupTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6780486	A A	ATATACAT others(12): Show ATATACATTTTTTATATATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0064 a0001c0001t0040g0064	1	62	0.0161	19	c.-16 others(40): Show c.-16+125837_-16+125838insATACATTTTTTATATATTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6806836	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	40	0.0250	19	c.-16 others(40): Show c.-16+152187_-16+152188insATATATATATATATATATT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7022030	T T	TCCCCTTC others(12): Show TCCCCTTCCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0054	1	7	0.1429	19	c.-15 others(38): Show c.-15-30022_-15-30021insTCCCCCTCCCCTTCCCCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7034826	A A	ACTTTTTT others(12): Show ACTTTTTTTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp1 HG02965.hp2 others(1): Show HG01099.hp2 HG01261.hp1 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0032	a0001c0001t0001g0063 a0001c0001t0003g0041 a0001c0001t0014g0046 others(1): Show a0001c0001t0001g0063 a0001c0001t0003g0041 a0001c0001t0014g0046 a0001c0001t0032g0068	4	68	0.0588	19	c.-15 others(38): Show c.-15-17219_-15-17218insCTTTTTTCTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7034848	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0002 a0001c0001t0020g0002	1	13	0.0769	19	c.-15 others(38): Show c.-15-17191_-15-17190insTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7448927	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0021 a0001c0001t0041g0021	1	4	0.2500	19	c.28- others(36): Show c.28-69219_28-69201dupTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7564540	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	9	0.1111	19	c.271 others(38): Show c.271-15227_271-15209dupAAAAAAAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7610118	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0019 a0001c0001t0039g0019	1	17	0.0588	19	c.676 others(36): Show c.676+2783_676+2801dupTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7448927	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0014 a0001c0001t0033g0014	1	10	0.1000	19	c.88- others(36): Show c.88-69219_88-69201dupTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7564540	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 HG02486.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0218 a0001c0001t0021g0132 a0001c0001t0004g0218 a0001c0001t0021g0132	2	37	0.0541	19	c.331 others(38): Show c.331-15227_331-15209dupAAAAAAAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7589912	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	25	0.0400	19	c.528 others(36): Show c.528+2612_528+2613insTGTGTGTGTGTGTGTGTGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	4/13			chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7610118	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03704.hp2 HG04199.hp1 others(1): Show HG03471.hp2 HG03704.hp2 HG04199.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0018 a0001c0001t0056	a0001c0001t0001g0146 a0001c0001t0013g0074 a0001c0001t0018g0121 others(1): Show a0001c0001t0001g0146 a0001c0001t0013g0074 a0001c0001t0018g0121 a0001c0001t0056g0031	4	71	0.0563	19	c.736 others(36): Show c.736+2783_736+2801dupTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7672865	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0032 a0001c0002t0003g0032	1	2	0.5000	19	c.993 others(36): Show c.993+1271_993+1289dupAAAAAAAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79318854	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	27	0.0370	19	c.-17 others(40): Show c.-174-11049_-174-11031dupTTTTTTTTTTTTTTTTTTT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79320018	T T	TTCTGGGC others(12): Show TTCTGGGCTGCTGGTCTATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0111 a0001c0001t0027g0111	1	152	0.0066	19	c.-17 others(40): Show c.-174-12213_-174-12195dupCATAGACCAGCAGCCCAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79487913	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	13	0.0769	19	c.-31 others(38): Show c.-319-5316_-319-5315insTTTTTTTTTTTTTTTTTTT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCCCTCTC others(12): Show TCCCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	35	0.0286	19	c.-62 others(28): Show c.-625_-624insGAGAGAGAGAGAGAGAGGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02135.hp2 NA18952.hp2 HG02129.hp1 HG02135.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0017 a0001c0002t0001 a0001c0001t0003 a0001c0001t0017 a0001c0002t0001	a0001c0001t0003g0043 a0001c0001t0017g0003 a0001c0002t0001g0079 a0001c0001t0003g0043 a0001c0001t0017g0003 a0001c0002t0001g0079	3	37	0.0811	19	c.-62 others(28): Show c.-625_-624insGAGAGAGAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBL1_chr20_36991349_37100997	37002336	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0296 a0001c0001t0010g0296	1	179	0.0056	19	c.303 others(38): Show c.3036+1347_3036+1365dupAAAAAAAAAAAAAAAAAAA	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBL1_chr20_36991349_37100997	37010260	G G	GAAAATAG others(12): Show GAAAATAGTGAATGTTTATT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	352	0.0028	19	c.272 others(38): Show c.2723-2720_2723-2702dupAATAAACATTCACTATTTT	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	19/21			chr20	TogoVar
RBM10_chrX_47140221_47191813	47144446	A A	ACCCACCC others(12): Show ACCCACCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	22	0.0455	19	c.-11 others(30): Show c.-1165_-1164insCCCACCCCCCCCCCCCCCC	RBM10	ENSG00000182872.16	transcript	ENST00000377604.8	protein_coding		774		chrX	TogoVar
RBM10_chrX_47140221_47191813	47144446	A A	ACCCCCCC others(12): Show ACCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	22	0.0455	19	c.-11 others(30): Show c.-1165_-1164insCCCCCCCCCCCCCCCCCCC	RBM10	ENSG00000182872.16	transcript	ENST00000377604.8	protein_coding		774		chrX	TogoVar
RBM20_chr10_110639336_110844468	110737177	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02723.hp2 others(5): Show HG02055.hp2 HG02109.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03209.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0191 others(5): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0191 a0001c0001t0002g0210 a0001c0003t0001g0058 a0002c0002t0001g0204 a0002c0002t0003g0207 a0002c0002t0003g0208	8	176	0.0455	19	c.192 others(38): Show c.192-43622_192-43604dupAAAAAAAAAAAAAAAAAAA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM20_chr10_110639336_110844468	110752946	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03486.hp2 HG02965.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0058 a0001c0003t0002g0001 a0001c0003t0001g0058 a0001c0003t0002g0001	2	256	0.0078	19	c.192 others(38): Show c.192-27855_192-27854insATATATATATATATATATA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13			chr10	TogoVar
RBM20_chr10_110639336_110844468	110809218	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG01496.hp2 others(12): Show HG00544.hp2 HG00621.hp1 HG01496.hp2 HG01928.hp1 HG02040.hp1 NA18522.hp1 NA18957.hp1 NA18965.hp1 NA18983.hp2 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19087.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0003t0002 a0002c0002t0003 a0002c0008t0006	a0001c0001t0001g0237 a0001c0001t0002g0059 a0001c0001t0002g0074 others(12): Show a0001c0001t0001g0237 a0001c0001t0002g0059 a0001c0001t0002g0074 a0001c0001t0002g0083 a0001c0001t0002g0129 a0001c0001t0002g0153 a0001c0001t0002g0169 a0001c0001t0002g0227 a0001c0001t0002g0240 a0001c0001t0012g0263 a0001c0003t0002g0028 a0001c0003t0002g0033 a0002c0002t0003g0147 a0002c0002t0003g0180 a0002c0008t0006g0255	15	76	0.1974	19	c.180 others(38): Show c.1801-1151_1801-1150insAAAAAAAAAAAAAAAAAAA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM23_chr14_22888204_22924149	22888670	C C	CATGGCAA others(12): Show CATGGCAAAACCCTGTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0008 a0002c0001t0003g0008	1	360	0.0028	19	c.13 others(32): Show c.13059_*13060insAAAGACAGGGTTTTGCCAT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding		4533		chr14	TogoVar
RBM23_chr14_22888204_22924149	22888998	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01106.hp2 HG01943.hp2 others(7): Show HG00423.hp1 HG01106.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02071.hp2 HG02683.hp2 HG03927.hp1 HG04115.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0003t0054 a0002c0001t0020	a0001c0002t0001g0006 a0001c0002t0001g0018 a0001c0002t0013g0115 others(7): Show a0001c0002t0001g0006 a0001c0002t0001g0018 a0001c0002t0013g0115 a0001c0003t0001g0033 a0001c0003t0001g0091 a0001c0003t0001g0183 a0001c0003t0001g0187 a0001c0003t0001g0193 a0001c0003t0054g0181 a0002c0001t0020g0036	10	59	0.1695	19	c.12 others(32): Show c.12731_*12732insTTTTTTTTTTTTTTTTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding		4205		chr14	TogoVar
RBM23_chr14_22888204_22924149	22910151	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	51	0.0196	19	c.67- others(32): Show c.67-575_67-557dupTTTTTTTTTTTTTTTTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	2/13			chr14	TogoVar
RBM25_chr14_73053534_73128899	73069746	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18941.hp2 NA18950.hp1 others(3): Show HG02602.hp1 NA18941.hp2 NA18950.hp1 NA18973.hp2 NA18975.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0002t0017	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0349 others(3): Show a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0349 a0001c0001t0005g0311 a0001c0001t0029g0264 a0001c0002t0017g0133	6	14	0.4286	19	c.-15 others(36): Show c.-15-1866_-15-1848dupAAAAAAAAAAAAAAAAAAA	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73104309	C C	CTCCTAGT others(12): Show CTCCTAGTAATTTTACTCTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	386	0.0026	19	c.115 others(36): Show c.1154+833_1154+851dupCCTAGTAATTTTACTCTTT	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM26_chr13_79313868_79411255	79367406	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18948.hp2 NA18956.hp1 others(2): Show HG03239.hp2 NA18948.hp2 NA18956.hp1 NA18969.hp1 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0019 a0001c0002t0001 a0001c0002t0019	a0001c0002t0001g0172 a0001c0002t0001g0227 a0001c0002t0001g0239 others(2): Show a0001c0002t0001g0172 a0001c0002t0001g0227 a0001c0002t0001g0239 a0001c0002t0001g0266 a0001c0002t0019g0173	5	197	0.0254	19	c.896 others(34): Show c.896-553_896-535dupTTTTTTTTTTTTTTTTTTT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	6/21			chr13	TogoVar
RBM27_chr5_146198605_146294223	146211464	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01496.hp2 HG01943.hp2 HG01257.hp1 HG01496.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231	3	58	0.0517	19	c.60- others(34): Show c.60-7509_60-7491dupTTTTTTTTTTTTTTTTTTT	RBM27	ENSG00000091009.8	transcript	ENST00000265271.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBM33_chr7_155639661_155786480	155673940	G G	GTTGTTGT others(12): Show GTTGTTGTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01175.hp2 others(10): Show HG00621.hp1 HG00735.hp2 HG01175.hp2 HG01978.hp2 HG02300.hp2 HG02602.hp2 HG03710.hp1 HG04115.hp2 NA18940.hp2 NA18941.hp2 NA18999.hp1 NA19004.hp1 NA19066.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0004 a0002c0001t0013 others(6): Show a0002c0001t0001 a0002c0001t0004 a0002c0001t0013 a0002c0001t0017 a0002c0001t0058 a0002c0001t0059 a0002c0001t0060 a0002c0001t0066 a0002c0001t0121	a0002c0001t0001g0015 a0002c0001t0001g0034 a0002c0001t0001g0040 others(10): Show a0002c0001t0001g0015 a0002c0001t0001g0034 a0002c0001t0001g0040 a0002c0001t0001g0067 a0002c0001t0001g0075 a0002c0001t0004g0126 a0002c0001t0013g0058 a0002c0001t0017g0076 a0002c0001t0058g0037 a0002c0001t0059g0299 a0002c0001t0060g0287 a0002c0001t0066g0286 a0002c0001t0121g0069	13	90	0.1444	19	c.171 others(36): Show c.171+1027_171+1028insGTTGTTTGTTTTTTTTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM33_chr7_155639661_155786480	155716316	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01175.hp1 others(30): Show HG00423.hp1 HG00621.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01934.hp1 HG02056.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02572.hp1 HG02602.hp2 HG02895.hp2 HG03516.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG04204.hp1 NA18941.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18979.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19056.hp2 NA19060.hp2 NA19074.hp2 NA19079.hp2 NA19085.hp2 NA19091.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0006 a0001c0017 a0002c0001 others(2): Show a0001c0006 a0001c0017 a0002c0001 a0004c0010 a0006c0014	a0001c0006t0093 a0001c0017t0055 a0002c0001t0001 others(15): Show a0001c0006t0093 a0001c0017t0055 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0001t0013 a0002c0001t0015 a0002c0001t0020 a0002c0001t0056 a0002c0001t0057 a0002c0001t0060 a0002c0001t0064 a0002c0001t0065 a0002c0001t0067 a0002c0001t0076 a0002c0001t0121 a0004c0010t0001 a0006c0014t0095	a0001c0006t0093g0166 a0001c0017t0055g0142 a0002c0001t0001g0009 others(30): Show a0001c0006t0093g0166 a0001c0017t0055g0142 a0002c0001t0001g0009 a0002c0001t0001g0015 a0002c0001t0001g0017 a0002c0001t0001g0022 a0002c0001t0001g0034 a0002c0001t0001g0036 a0002c0001t0001g0041 a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0067 a0002c0001t0003g0016 a0002c0001t0003g0018 a0002c0001t0003g0064 a0002c0001t0004g0003 a0002c0001t0013g0071 a0002c0001t0013g0073 a0002c0001t0015g0028 a0002c0001t0015g0029 a0002c0001t0015g0057 a0002c0001t0020g0031 a0002c0001t0056g0068 a0002c0001t0057g0013 a0002c0001t0060g0287 a0002c0001t0064g0070 a0002c0001t0065g0063 a0002c0001t0067g0062 a0002c0001t0076g0097 a0002c0001t0121g0069 a0004c0010t0001g0026 a0004c0010t0001g0027 a0006c0014t0095g0270	33	109	0.3028	19	c.120 others(38): Show c.1202-2053_1202-2052insTTTTTTTTTTTTTTTTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM38_chr20_57386396_57414333	57407022	A A	AGGAGCAG others(12): Show AGGAGCAGGTGTTGGCTGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0055 a0001c0001t0015g0055	1	398	0.0025	19	c.417 others(34): Show c.417-520_417-502dupGGAGCAGGTGTTGGCTGGG	RBM38	ENSG00000132819.17	transcript	ENST00000356208.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBM39_chr20_35696347_35747260	35713666	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	52	0.0192	19	c.109 others(36): Show c.1096+500_1096+518dupTTTTTTTTTTTTTTTTTTT	RBM39	ENSG00000131051.24	transcript	ENST00000253363.11	protein_coding	11/16			chr20	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG02647.hp1 others(7): Show HG00323.hp1 HG01256.hp1 HG02647.hp1 HG02818.hp1 HG02896.hp2 HG03654.hp2 HG03927.hp1 NA18983.hp2 NA19074.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0058 a0001c0001t0002g0014 a0001c0001t0002g0059	10	15	0.6667	19	c.13 others(30): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	114	0.0088	19	c.112 others(36): Show c.1124-444_1124-443insATATATTTTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp1 NA19240.hp1 HG02257.hp1 HG03139.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 a0001c0001 a0001c0004 a0001c0011	a0001c0001t0038 a0001c0004t0001 a0001c0011t0001 a0001c0001t0038 a0001c0004t0001 a0001c0011t0001	a0001c0001t0038g0099 a0001c0004t0001g0087 a0001c0011t0001g0126 a0001c0001t0038g0099 a0001c0004t0001g0087 a0001c0011t0001g0126	3	116	0.0259	19	c.112 others(36): Show c.1124-444_1124-443insATATATATTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03098.hp2 HG03225.hp2 HG01255.hp2 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0061 a0001c0004t0016 a0001c0004t0061	a0001c0004t0016g0080 a0001c0004t0016g0131 a0001c0004t0061g0246 a0001c0004t0016g0080 a0001c0004t0016g0131 a0001c0004t0061g0246	3	116	0.0259	19	c.112 others(36): Show c.1124-444_1124-443insATATATATATTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	114	0.0088	19	c.112 others(36): Show c.1124-444_1124-443insATATATATATATTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0001 a0001c0004t0033g0001	1	114	0.0088	19	c.112 others(36): Show c.1124-444_1124-443insATATATATATATATATTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(8): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG03453.hp2 HG04115.hp2 NA18957.hp1 NA19011.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0002c0002 a0002c0018	a0001c0001t0001 a0001c0001t0028 a0001c0001t0031 others(7): Show a0001c0001t0001 a0001c0001t0028 a0001c0001t0031 a0001c0004t0039 a0001c0008t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0015 a0002c0002t0066 a0002c0018t0018	a0001c0001t0001g0200 a0001c0001t0028g0107 a0001c0001t0028g0108 others(8): Show a0001c0001t0001g0200 a0001c0001t0028g0107 a0001c0001t0028g0108 a0001c0001t0031g0251 a0001c0004t0039g0144 a0001c0008t0007g0222 a0002c0002t0001g0196 a0002c0002t0002g0186 a0002c0002t0015g0210 a0002c0002t0066g0244 a0002c0018t0018g0224	11	110	0.1000	19	c.-23 others(40): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM48_chr7_92523795_92545481	92544398	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02148.hp2 HG03098.hp2 others(4): Show HG00621.hp2 HG02148.hp2 HG03098.hp2 HG03239.hp1 NA18952.hp2 NA18953.hp2 NA18999.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0002 a0001c0001t0017 a0003c0010t0004 a0001c0001t0002 a0001c0001t0017 a0003c0010t0004	a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0018 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0017g0017 a0003c0010t0004g0006	7	175	0.0400	19	c.74 others(30): Show c.7461_*7462insTTTTTTTTTTTTTTTTTTT	RBM48	ENSG00000127993.16	transcript	ENST00000265732.10	protein_coding		3918		chr7	TogoVar

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