Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBFOX1_chr16_6014024_7718340	6439972	T T	TTCTTTCT others(93): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTGTTTTTGTTTTTTGAGCTG G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	68	0.0147	100	c.-64 others(121): Show c.-64+122915_-64+122916insTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCTTTCT TTTTTTGTTTTTGTTTTTTGAGCTGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6450845	A A	ATATACAT others(93): Show ATATACATATATATATACATATATATATGTATATATATATGTATATATAT ATACATATATATATACATATATATATGTATATATATATATACATATATAT G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0045 a0001c0001t0015g0045	1	68	0.0147	100	c.-64 others(121): Show c.-64+133792_-64+133793insCATATATATATACATATATATATG TATATATATATGTATATATATATACATATATATATACATATATATATGTA TATATATATATACATATATATGTATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7683010	G G	GTATATAT others(93): Show GTATATATACACACACACATATATACGTATATATATGTGTGTGTGTATAT ATACACACACACATATATATACGTATATATGTGTGTGTGTGTATATATAT A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0024 a0001c0001t0030g0024	1	68	0.0147	100	c.995 others(117): Show c.995+6180_995+6181insCACACACACATATATACGTATATATATG TGTGTGTGTATATATACACACACACATATATATACGTATATATGTGTGTG TGTGTATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTATATAT others(93): Show GTATATATACACACACACATATATACGTATATATATGTGTGTGTGTATAT ATACACACACACATATATACGTATATATGTGTGTGTATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	234	0.0043	100	c.105 others(119): Show c.1058+6180_1058+6181insCACACACACATATATACGTATATATA TGTGTGTGTGTATATATACACACACACATATATACGTATATATGTGTGTG TATATATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTATATAT others(93): Show GTATATATACACACACACATATATACGTATATATATGTGTGTGTGTATAT ATACACACACACATATATATACGTATATATGTGTGTGTGTATATATATAT A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03017.hp1 HG01934.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0127 a0001c0006t0002g0052 a0001c0001t0001g0127 a0001c0006t0002g0052	2	234	0.0086	100	c.105 others(119): Show c.1058+6180_1058+6181insCACACACACATATATACGTATATATA TGTGTGTGTGTATATATACACACACACATATATATACGTATATATGTGTG TGTGTATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTATATAT others(93): Show GTATATATACACACACACATATATACGTATATATATGTGTGTGTGTATAT ATACACACACACATATATATACGTATATATGTGTGTGTGTGTATATATAT A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03195.hp2 HG01257.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0025 a0001c0003 a0001c0025	a0001c0003t0004 a0001c0025t0019 a0001c0003t0004 a0001c0025t0019	a0001c0003t0004g0187 a0001c0025t0019g0123 a0001c0003t0004g0187 a0001c0025t0019g0123	2	234	0.0086	100	c.105 others(119): Show c.1058+6180_1058+6181insCACACACACATATATACGTATATATA TGTGTGTGTGTATATATACACACACACATATATATACGTATATATGTGTG TGTGTGTATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(93): Show GTGTATATATACACACACACACACATATATACGTATATATATGTGTGTGT GTATATATACACACACACATATATACGTATATATGTGTGTGTGTGTATAT A	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA20905.hp1 HG00323.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0044 a0001c0001t0001 a0001c0011t0044	a0001c0001t0001g0153 a0001c0011t0044g0104 a0001c0001t0001g0153 a0001c0011t0044g0104	2	234	0.0086	100	c.105 others(119): Show c.1058+6173_1058+6174insGTATATATACACACACACACACATAT ATACGTATATATATGTGTGTGTGTATATATACACACACACATATATACGT ATATATGTGTGTGTGTGTATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79512579	A A	ATGTTACC others(93): Show ATGTTACCATCGGGTACGGCCCCATGGCCAGGGGACACCCACCCGGATAC GTGTTACCATCGGGTACGGCCCCATGGCCAGGGGACACCCACCCGGATAA G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0091 a0001c0002t0004g0091	1	154	0.0065	100	c.-31 others(121): Show c.-319-29982_-319-29981insCTTATCCGGGTGGGTGTCCCCTGG CCATGGGGCCGTACCCGATGGTAACACGTATCCGGGTGGGTGTCCCCTGG CCATGGGGCCGTACCCGATGGTAACA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79512629	A A	ATGTTACC others(93): Show ATGTTACCATCGGGTACGGCCCCATGGCCAGGGGACACCCACCCGGATAC GTGTTACCATCGGGTACGGCCCCATGGCCAGGGGACACCCACCCGGATAA G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(57): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00741.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01934.hp1 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp2 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA19043.hp1 NA19085.hp1 NA19085.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 others(57): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0002g0110 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0003g0014 a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0003g0072 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0004g0090 a0001c0001t0004g0095 a0001c0001t0004g0097 a0001c0001t0004g0118 a0001c0001t0005g0109 a0001c0001t0005g0137 a0001c0001t0005g0144 a0001c0001t0005g0147 a0001c0001t0006g0099 a0001c0001t0007g0039 a0001c0001t0010g0022 a0001c0001t0012g0023 a0001c0001t0014g0027 a0001c0001t0016g0019 a0001c0001t0018g0049 a0001c0001t0022g0141 a0001c0001t0025g0143 a0001c0001t0026g0106 a0001c0001t0027g0111 a0001c0002t0001g0037 a0001c0002t0001g0044 a0001c0002t0001g0053 a0001c0002t0001g0064 a0001c0002t0001g0079 a0001c0002t0002g0153 a0001c0002t0003g0073 a0001c0002t0004g0098 a0001c0002t0004g0126 a0001c0002t0005g0103 a0001c0002t0009g0041	60	154	0.3896	100	c.-31 others(121): Show c.-319-30032_-319-30031insCTTATCCGGGTGGGTGTCCCCTGG CCATGGGGCCGTACCCGATGGTAACACGTATCCGGGTGGGTGTCCCCTGG CCATGGGGCCGTACCCGATGGTAACA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79512728	C C	CGTGTTAC others(93): Show CGTGTTACCATCGGGTACGGCCCCATGGCCAGGGGACACCCACCCGGATA CGTGTTACCATCGGGTACGGCCCCATGGCCAGGGGACACCCACCCGGATA A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	154	0.0065	100	c.-31 others(121): Show c.-319-30131_-319-30130insTTATCCGGGTGGGTGTCCCCTGGC CATGGGGCCGTACCCGATGGTAACACGTATCCGGGTGGGTGTCCCCTGGC CATGGGGCCGTACCCGATGGTAACAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBL1_chr20_36991349_37100997	37069845	T T	TGGGGGGG others(93): Show TGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGCCCGGGAGGGAGGT GGGGGCGTCAGCCCCCGGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0063 a0001c0001t0022g0063	1	354	0.0028	100	c.291 others(117): Show c.291-1660_291-1659insCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCCGGGGGCTGACGCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGC CTGGCGGGGGGCTGACCCCCCC	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	2/21			chr20	TogoVar
RBM34_chr1_235126183_235166250	235155829	A A	ATATATAT others(93): Show ATATATATATATATATATATATATATATATTTATACATATATATATATAT ATATATATATATATACATATATATATATATATATATATATATATATATAC G	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0289 a0001c0002t0002g0289	1	388	0.0026	100	c.366 others(115): Show c.366-718_366-717insCGTATATATATATATATATATATATATATA TATATGTATATATATATATATATATATATATATATGTATAAATATATATA TATATATATATATATATATA	RBM34	ENSG00000188739.15	transcript	ENST00000408888.8	protein_coding	3/10			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487892	C C	CATAATAT others(93): Show CATAATATATATTCATAATATATATATTCATAATATATATTCATAATATA TATATTCATAATATATATTCATAATATATATATTCATAATATATATTCAT A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	406	0.0025	100	c.657 others(117): Show c.657+2688_657+2689insTATGAATATATATTATGAATATATATAT TATGAATATATATTATGAATATATATATTATGAATATATATTATGAATAT ATATATTATGAATATATATTAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
REPS2_chrX_16941658_17158272	17050133	C C	CCTTCCTT others(93): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTT T	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	166	0.0060	100	c.908 others(117): Show c.908-2246_908-2245insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050168	T T	TCAATATC others(93): Show TCAATATCTTTCTAACATTCTTTCTTCTTAATAATTCATCTTTCATTTCA TATCTATCTTTCATTCTTTCCTTTCTATCTTACAAACATTCAATTTCTTA A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0138 a0001c0001t0005g0138	1	166	0.0060	100	c.908 others(117): Show c.908-2214_908-2213insCAATATCTTTCTAACATTCTTTCTTCTT AATAATTCATCTTTCATTTCATATCTATCTTTCATTCTTTCCTTTCTATC TTACAAACATTCAATTTCTTAA	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17			chrX	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(93): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	300	0.0033	100	c.62- others(117): Show c.62-40020_62-40019insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15161215	A A	AAAGAAAG others(93): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	300	0.0033	100	c.62- others(117): Show c.62-40097_62-40096insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(93): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	276	0.0036	100	c.132 others(117): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296190	T T	TTTTCTTT others(93): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCC TTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	388	0.0026	100	c.207 others(115): Show c.207+567_207+568insCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCTTTTCTTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RHOT2_chr16_663132_679171	665214	A A	ACCTCAGT others(93): Show ACCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCACACTCCTGTCTTTCA GCCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCACACTCCTGTCTTTCA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0017 a0017	a0017c0033 a0017c0033	a0017c0033t0014 a0017c0033t0014	a0017c0033t0014g0076 a0017c0033t0014g0076	1	380	0.0026	100	c.-29 others(111): Show c.-2986_-2985insCCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCA CACTCCTGTCTTTCAGCCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCA CACTCCTGTCTTTCAG	RHOT2	ENSG00000140983.15	transcript	ENST00000315082.9	protein_coding		2917		chr16	TogoVar
RIN3_chr14_92508781_92693994	92640736	G G	GTTTGCTG others(93): Show GTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGC ATTTGCTGGGAGATGCCTGACTGTGTGTTCGTCGGGGGCTGCCTGACTGC A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00558.hp2 others(60): Show HG00323.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG01074.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp2 HG03239.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03831.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18944.hp2 NA18954.hp1 NA18960.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA18988.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp2 NA19067.hp1 NA19068.hp1 NA19081.hp2 NA21309.hp2	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0006 a0007 a0009 a0019 a0020 a0025 a0029	a0001c0001 a0003c0003 a0004c0004 others(7): Show a0001c0001 a0003c0003 a0004c0004 a0006c0005 a0007c0007 a0009c0008 a0019c0042 a0020c0045 a0025c0033 a0029c0028	a0001c0001t0001 a0001c0001t0010 a0003c0003t0001 others(12): Show a0001c0001t0001 a0001c0001t0010 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0004c0004t0001 a0004c0004t0002 a0006c0005t0001 a0007c0007t0001 a0007c0007t0002 a0009c0008t0001 a0019c0042t0001 a0020c0045t0001 a0025c0033t0001 a0029c0028t0001	a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0001g0153 others(60): Show a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0001g0153 a0001c0001t0001g0166 a0001c0001t0001g0323 a0001c0001t0010g0163 a0003c0003t0001g0016 a0003c0003t0001g0027 a0003c0003t0001g0034 a0003c0003t0001g0049 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0093 a0003c0003t0001g0109 a0003c0003t0001g0117 a0003c0003t0001g0129 a0003c0003t0001g0158 a0003c0003t0001g0178 a0003c0003t0001g0210 a0003c0003t0001g0213 a0003c0003t0001g0231 a0003c0003t0001g0235 a0003c0003t0001g0241 a0003c0003t0001g0242 a0003c0003t0001g0266 a0003c0003t0001g0268 a0003c0003t0001g0291 a0003c0003t0001g0314 a0003c0003t0002g0211 a0003c0003t0002g0233 a0003c0003t0002g0259 a0003c0003t0002g0262 a0003c0003t0003g0032 a0003c0003t0003g0056 a0003c0003t0003g0154 a0003c0003t0003g0228 a0003c0003t0003g0260 a0004c0004t0001g0065 a0004c0004t0001g0168 a0004c0004t0001g0267 a0004c0004t0002g0061 a0006c0005t0001g0182 a0007c0007t0001g0044 a0007c0007t0001g0057 a0007c0007t0001g0068 a0007c0007t0001g0073 a0007c0007t0001g0083 a0007c0007t0001g0097 a0007c0007t0001g0111 a0007c0007t0001g0132 a0007c0007t0001g0146 a0007c0007t0001g0193 a0007c0007t0001g0237 a0007c0007t0001g0238 a0007c0007t0001g0243 a0007c0007t0001g0253 a0007c0007t0001g0292 a0007c0007t0002g0215 a0009c0008t0001g0331 a0019c0042t0001g0135 a0020c0045t0001g0332 a0025c0033t0001g0173 a0029c0028t0001g0239	63	334	0.1886	100	c.441 others(115): Show c.441-475_441-376dupTTCATCGGGGGCTGCCTGACTGCATTTGCT GGGAGATGCCTGACTGTGTGTTCGTCGGGGGCTGCCTGACTGCATTTGCT GGGAGATGCCTGACTGTGTG	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RMDN1_chr8_86467349_86513686	86502453	C C	CCATGCTG others(93): Show CCATGCTGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0144 a0002c0003t0003g0144	1	368	0.0027	100	c.247 others(117): Show c.247+4541_247+4542insCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGACCAGCATG	RMDN1	ENSG00000176623.12	transcript	ENST00000406452.8	protein_coding	2/9			chr8	TogoVar
RNASE13_chr14_21027818_21039807	21027899	C C	CAGAGAGA others(93): Show CAGAGAGAGCATGAAGGACAGTTTTGGAGGCAGAAACATTCAGGTTTACT TTGGAGAACTGAATAGTAGCTTCCCATGTATTATCCCCTAATACCGTAAG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	478	0.0021	100	c.59 others(111): Show c.5918_*5919insCCTTACGGTATTAGGGGATAATACATGGGAAGCT ACTATTCAGTTCTCCAAAGTAAACCTGAATGTTTCTGCCTCCAAAACTGT CCTTCATGCTCTCTCT	RNASE13	ENSG00000206150.4	transcript	ENST00000382951.4	protein_coding		4918		chr14	TogoVar
RNF17_chr13_24759169_24884921	24881816	C C	CTATATAG others(93): Show CTATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATAT AGATGCATCTATATAGATATATAATCTATATAGATATATAATCTATATAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0001 a0019c0024t0001	a0019c0024t0001g0171 a0019c0024t0001g0171	1	426	0.0024	100	c.20 others(111): Show c.2090_*2091insTATATAGATGCATCTATATAGATATATAGATGCA TCTATATAGATATATAGATGCATCTATATAGATATATAATCTATATAGAT ATATAATCTATATAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1896		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881827	C C	CATCTATA others(93): Show CATCTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTA TATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01109.hp2 HG00558.hp1 HG01109.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0299 a0003c0006t0001g0174 a0001c0001t0001g0299 a0003c0006t0001g0174	2	426	0.0047	100	c.21 others(111): Show c.2101_*2102insATCTATATAGATATATAGATGCATCTATATAGAT ATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATATAA TCTATATAGATATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1907		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881849	C C	CATCTATA others(93): Show CATCTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTA TATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	426	0.0024	100	c.21 others(111): Show c.2123_*2124insATCTATATAGATATATAGATGCATCTATATAGAT ATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATATAA TCTATATAGATATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1929		chr13	TogoVar
ROCK1_chr18_20941906_21116813	20959105	A A	ATATTATA others(93): Show ATATTATATATAATATATATAATATTATATATATATTATATATAATATAT TATATATAATATATATAATATTATATATATATTATATAATATATATAATA T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	212	0.0047	100	c.351 others(117): Show c.3512+734_3512+735insATATTATATATATTATATAATATATATA TAATATTATATATATTATATATAATATATTATATATAATATATATATAAT ATTATATATATTATATATAATA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
RORA_chr15_60483284_61234302	61071397	G G	GGAGGGGA others(93): Show GGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAAGGAAGGGGAGGGGAGG GGAGGGGAGGGGAAGGGAGGGGAGGGGATGGGAAGGGAGGGGAGGGGAGG A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01358.hp1 HG02602.hp2 HG01099.hp2 HG01358.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0047 a0001c0001t0009g0010 a0001c0001t0009g0043 a0001c0001t0005g0047 a0001c0001t0009g0010 a0001c0001t0009g0043	3	118	0.0254	100	c.166 others(121): Show c.166+157655_166+157656insTCCTCCCCTCCCCTCCCTTCCCAT CCCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTTCCTTCCCCT CCCCTCCCCTTCCCTCCCCTCCCCTC	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPH3AL_chr17_207389_357807	235251	A A	AGGGTTCA others(93): Show AGGGTTCAAAGCTGGGGTCGGGGGAGGCTCTGCACTAACAAGACGGATCC CGGGTTCAAAGCTGGGGTCGGGGGAGGCTCTGCACTAACAAGACGGATCC C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01515.hp2 HG00323.hp2 HG01515.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0016 a0008c0013t0003 a0001c0001t0016 a0008c0013t0003	a0001c0001t0016g0082 a0008c0013t0003g0037 a0001c0001t0016g0082 a0008c0013t0003g0037	2	133	0.0150	100	c.613 others(119): Show c.613+11859_613+11860insGGGATCCGTCTTGTTAGTGCAGAGCC TCCCCCGACCCCAGCTTTGAACCCGGGATCCGTCTTGTTAGTGCAGAGCC TCCCCCGACCCCAGCTTTGAACCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235435	G G	GTAACAAG others(93): Show GTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACA CTAACAAGACAGGTCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACA C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02895.hp1 NA18940.hp2 others(1): Show HG00280.hp2 HG02895.hp1 NA18940.hp2 NA18999.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0012 a0001c0001 a0001c0004 a0003c0012	a0001c0001t0001 a0001c0001t0014 a0001c0004t0004 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0004t0004 a0003c0012t0005	a0001c0001t0001g0065 a0001c0001t0014g0023 a0001c0004t0004g0014 others(1): Show a0001c0001t0001g0065 a0001c0001t0014g0023 a0001c0004t0004g0014 a0003c0012t0005g0020	4	133	0.0301	100	c.613 others(119): Show c.613+11675_613+11676insGTGTGGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGACCTGTCTTGTTAGTGTGGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGACCCGTCTTGTTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235451	A A	CGGGTTCA others(93): Show CGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGACAGGTCC CGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGATGGATCC A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0082 a0001c0001t0016g0082	1	133	0.0075	100	c.613 others(119): Show c.613+11660_613+11661insGGATCCATCTTGTTAGTGTGGAGCCT CCGCCGACCCCAGCTTTGAACCCGGGACCTGTCTTGTTAGTGTGGAGCCT CCGCCGACCCCAGCTTTGAACCCG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235731	C C	CACACTAA others(93): Show CACACTAACAAGATGGATCCTGGGTTCAAAGCTGGGGTCGGCGGAGGCTC CGCACTAACAAGATGGATCCTGGGTTCAAAGCTGGGGTCAGCGGAGGTTC T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp1 HG00140.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0020 a0001c0001t0016 a0001c0001t0020	a0001c0001t0016g0093 a0001c0001t0020g0127 a0001c0001t0016g0093 a0001c0001t0020g0127	2	133	0.0150	100	c.613 others(119): Show c.613+11379_613+11380insAGAACCTCCGCTGACCCCAGCTTTGA ACCCAGGATCCATCTTGTTAGTGCGGAGCCTCCGCCGACCCCAGCTTTGA ACCCAGGATCCATCTTGTTAGTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235990	A A	AAGACGGG others(93): Show AAGACGGGTCCATGGGTCAAAGCTGGGGTCGGCCAAGGCTCCACACTAAC GAGACGGGTCCATGGGTCAAAGCTGGGGTCGGCCAAGGCTCTACACTAAC G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	133	0.0075	100	c.613 others(119): Show c.613+11120_613+11121insCGTTAGTGTAGAGCCTTGGCCGACCC CAGCTTTGACCCATGGACCCGTCTCGTTAGTGTGGAGCCTTGGCCGACCC CAGCTTTGACCCATGGACCCGTCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	319924	G G	GGGAGGGG others(93): Show GGGAGGGGGAGGGAGACTGAGGGGAGGGAGGGGGAGGGAGATTGAGGGGA GGGAGGGGGAGGGAGACTGAGGAGAGGGAGGGGGAGGGAGACTGAGGGGA T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(65): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG01070.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02698.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02976.hp1 HG03017.hp2 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03831.hp1 HG03831.hp2 NA18612.hp1 NA18940.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19005.hp2 NA19056.hp1 NA19056.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0015 a0004c0007 a0005c0010 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0004t0001 a0001c0004t0026 a0001c0006t0004 a0001c0008t0001 a0001c0015t0007 a0004c0007t0007 a0005c0010t0003 a0006c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 others(65): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0002g0010 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0061 a0001c0001t0002g0079 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0039 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0005g0017 a0001c0001t0006g0072 a0001c0001t0006g0105 a0001c0001t0007g0032 a0001c0001t0008g0130 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0010g0015 a0001c0001t0010g0131 a0001c0001t0011g0003 a0001c0001t0011g0056 a0001c0001t0012g0053 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0014g0025 a0001c0001t0016g0082 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0021g0077 a0001c0001t0022g0071 a0001c0001t0025g0076 a0001c0001t0027g0118 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0062 a0001c0004t0001g0078 a0001c0004t0026g0013 a0001c0006t0004g0022 a0001c0008t0001g0044 a0001c0015t0007g0026 a0004c0007t0007g0117 a0005c0010t0003g0085 a0006c0009t0001g0054	68	133	0.5113	100	c.222 others(115): Show c.222-376_222-375insATCCCCTCAGTCTCCCTCCCCCTCCCTCTC CTCAGTCTCCCTCCCCCTCCCTCCCCTCAATCTCCCTCCCCCTCCCTCCC CTCAGTCTCCCTCCCCCTCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPL5_chr1_92827040_92846924	92846848	T T	TATATATA others(93): Show TATATATATATATATATACACACACACGTATATATATATATACACACACG TATATATATATACATATATATATGTGTGTATATATATATATATATACACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	331	0.0030	100	c.49 others(111): Show c.4983_*4984insATATATATATATATATACACACACACGTATATAT ATATATACACACACGTATATATATATACATATATATATGTGTGTATATAT ATATATATATACACAC	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4925		chr1	TogoVar
RPL5_chr1_92827040_92846924	92846867	A A	ATATATAT others(93): Show ATATATATACACACGTATATATATATATATATACACACGTATATATATAT ATACACACGTATATATATATACACGTATATATATATACATATATATATGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	331	0.0030	100	c.50 others(111): Show c.5002_*5003insTATATATACACACGTATATATATATATATATACA CACGTATATATATATATACACACGTATATATATATACACGTATATATATA TACATATATATATGTG	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4944		chr1	TogoVar
RPL5_chr1_92827040_92846924	92846867	A A	ATATATAT others(93): Show ATATATATACACACGTATATATATATATATATACACACGTATATATATAT ATACACACGTATATATATATATACACGTATATATATATACATATATATGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02976.hp2 others(1): Show HG02055.hp2 HG02109.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	4	331	0.0121	100	c.50 others(111): Show c.5002_*5003insTATATATACACACGTATATATATATATATATACA CACGTATATATATATATACACACGTATATATATATATACACGTATATATA TATACATATATATGTG	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4944		chr1	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGC others(93): Show GTGATGGCGATGATGTGATGGTGGTGGTGATAGTGATGGCGATGATGTGA TGATGGTGGTGGTGGTGATGATAGTGATGGCGATGGTGATGGTGGTGGTG A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	412	0.0024	100	c.-48 others(111): Show c.-4877_-4876insTGATGGCGATGATGTGATGGTGGTGGTGATAGTG ATGGCGATGATGTGATGATGGTGGTGGTGGTGATGATAGTGATGGCGATG GTGATGGTGGTGGTGA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4824		chr20	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(93): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19074.hp1 NA19082.hp2 NA19068.hp2 NA19074.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0022 a0001c0001t0007 a0001c0001t0022	a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0022g0031 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0022g0031	3	366	0.0082	100	c.-15 others(111): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(93): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 NA19030.hp2 HG02280.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0028 a0001c0001t0017g0029 a0001c0001t0017g0028 a0001c0001t0017g0029	2	366	0.0055	100	c.-15 others(111): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(93): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0062 a0001c0001t0045g0062	1	366	0.0027	100	c.-15 others(111): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80864276	C C	CGGCAGGT others(93): Show CGGCAGGTTTCTTCTTACAGATTTCCTACAGATGGAAAAGGTGAGAGTGA TGGCAAGTTTCTTCTCACAGATTTCCTACAGATGGAAAAGGTGAGCGTGA T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01099.hp2 others(1): Show HG00140.hp1 HG00741.hp1 HG01099.hp2 HG03688.hp2	a0001 a0001	a0001c0014 a0001c0025 a0001c0054 others(1): Show a0001c0014 a0001c0025 a0001c0054 a0001c0055	a0001c0014t0034 a0001c0025t0052 a0001c0054t0034 others(1): Show a0001c0014t0034 a0001c0025t0052 a0001c0054t0034 a0001c0055t0049	a0001c0014t0034g0072 a0001c0025t0052g0181 a0001c0054t0034g0056 others(1): Show a0001c0014t0034g0072 a0001c0025t0052g0181 a0001c0054t0034g0056 a0001c0055t0049g0083	4	196	0.0204	100	c.150 others(119): Show c.1509+6425_1509+6426insTGGCAAGTTTCTTCTCACAGATTTCC TACAGATGGAAAAGGTGAGCGTGATGGCAGGTTTCTTCTTACAGATTTCC TACAGATGGAAAAGGTGAGAGTGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864321	A A	AGTGATGG others(93): Show AGTGATGGCAGGTTTCTTCTTACAGATTTCCTACAGATGGAAAAGGTGAG AATGATGGCAAGTTTCTTCTCACAGATTTCCTACAGATGGAAAAGGTGAG C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0090 a0001c0007t0090	a0001c0007t0090g0025 a0001c0007t0090g0025	1	196	0.0051	100	c.150 others(119): Show c.1509+6425_1509+6426insTGGCAGGTTTCTTCTTACAGATTTCC TACAGATGGAAAAGGTGAGAATGATGGCAAGTTTCTTCTCACAGATTTCC TACAGATGGAAAAGGTGAGCGTGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSRC1_chr3_158105089_158550730	158229108	G G	GTGTATAT others(93): Show GTGTATATAAACACATACGTGTATATGTGTATATAAACACATACGTGTAT ATGTGTATATAAACACGTGTATATGTGTATATAAACACATACGTGTATAT A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	276	0.0036	100	c.494 others(119): Show c.494+25875_494+25876insCATACGTGTATATGTGTATATAAACA CATACGTGTATATGTGTATATAAACACGTGTATATGTGTATATAAACACA TACGTGTATATATGTATATAAACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16722855	T T	TATACATA others(93): Show TATACATATATGTATATATACACACATATACATATATGTATATATACACA CATATACATATATGTATATATACACATATACATATATGTATATATACACA C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0171 a0001c0002t0003g0171	1	190	0.0053	100	c.599 others(119): Show c.599-27701_599-27700insGTGTGTATATATACATATATGTATAT GTGTATATATACATATATGTATATGTGTGTATATATACATATATGTATAT GTGTGTATATATACATATATGTAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(93): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	376	0.0027	100	c.-58 others(107): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACC CCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(93): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0004 a0002c0008t0002g0004	1	376	0.0027	100	c.-58 others(107): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACC CCGCGCCCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUNDC3B_chr7_87623398_87837296	87626198	A A	ATTGTCAT others(93): Show ATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATAT ATTGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	202	0.0050	100	c.-26 others(111): Show c.-2626_-2625insTTGTCATATATATGTGTCATATATATTGTCATAT ATATGTGTCATATATATTGTCATATATATGTGTCATATATATGTCATATA TATGTGTCATATATAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2199		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626335	C C	CATATATG others(93): Show CATATATGTGTCATATATGTGTCATATATGTGTCATATATATGTGTCATA TATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	202	0.0050	100	c.-24 others(111): Show c.-2489_-2488insATATATGTGTCATATATGTGTCATATATGTGTCA TATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGT CATATATATGTGTCAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2062		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626413	T T	TATATATG others(93): Show TATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGT CATATATATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0114 a0001c0001t0005g0114	1	202	0.0050	100	c.-24 others(111): Show c.-2411_-2410insATATATGTGTCATATATATGTGTCATATATATGT GTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATGT GTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1984		chr7	TogoVar

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