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
PRKCZ_chr1_2045411_2190395	2122418	CGGTGGTA others(40): Show CGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	286	0.0035	-47	c.335 others(66): Show c.335-12841_335-12795delTGGTAGGGTCGTGGTGGTTAGGGTCG TGGCGGTGGTTAGGGTCGTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122965	ATGGTGGT others(40): Show ATGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp2 NA18942.hp1 others(7): Show HG00621.hp1 HG02056.hp2 NA18942.hp1 NA18948.hp2 NA18968.hp1 NA18993.hp2 NA18997.hp1 NA19011.hp1 NA19079.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 a0001c0007t0001	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0143 others(7): Show a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0143 a0001c0002t0001g0281 a0001c0002t0004g0144 a0001c0004t0001g0008 a0001c0004t0001g0009 a0001c0004t0001g0011 a0001c0004t0001g0056 a0001c0007t0001g0116	10	286	0.0350	-47	c.335 others(66): Show c.335-12293_335-12247delTGGTGGTTAGGGTCACGGTGGTAGGG TCGTGGTGGTTAGGGTCGTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122980	GTCACGGT others(40): Show GTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0271 a0001c0002t0001g0271	1	286	0.0035	-47	c.335 others(66): Show c.335-12278_335-12232delCGGTGGTAGGGTCGTGGTGGTTAGGG TCGTGGCGGTGGTTAGGTTCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113154159	CGGGGGAG others(40): Show CGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 NA18960.hp1 NA19060.hp1 others(1): Show HG02922.hp2 NA18960.hp1 NA19060.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0062 a0001c0001t0001g0081 a0001c0001t0001g0003 a0001c0001t0001g0062 a0001c0001t0001g0081	4	378	0.0106	-47	c.-45 others(58): Show c.-4501_-4455delGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGG GGGGGCGGGCCGT	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4488		chr13	TogoVar
PRPF3_chr1_150316533_150358233	150333338	TCACCTGA others(40): Show TCACCTGAGGTCAGGAGTCAGGAGTTCGAGACCAGCCTGGCCAATATG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	362	0.0028	-47	c.728 others(62): Show c.728+140_728+186delCACCTGAGGTCAGGAGTCAGGAGTTCGAGA CCAGCCTGGCCAATATG	PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	6/15			chr1	TogoVar
PRPSAP2_chr17_18853131_18936287	18868462	GAGCGAGA others(40): Show GAGCGAGACTTTGTCTCAGGGGAAAAAAAAAAAAAAAGAAATTATTTT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	392	0.0026	-47	c.172 others(64): Show c.172+1132_172+1178delGAGACTTTGTCTCAGGGGAAAAAAAAAA AAAAAGAAATTATTTTAGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSD3_chr8_18522303_19018703	18865246	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01496.hp1 HG01975.hp1 others(4): Show HG01258.hp2 HG01496.hp1 HG01975.hp1 NA18964.hp1 NA18966.hp1 NA18981.hp2 NA19066.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0003t0011 a0002c0003t0071 others(3): Show a0002c0003t0001 a0002c0003t0011 a0002c0003t0071 a0002c0005t0016 a0002c0005t0039 a0002c0005t0070	a0002c0003t0001g0074 a0002c0003t0001g0104 a0002c0003t0011g0115 others(4): Show a0002c0003t0001g0074 a0002c0003t0001g0104 a0002c0003t0011g0115 a0002c0003t0071g0102 a0002c0005t0016g0144 a0002c0005t0039g0117 a0002c0005t0070g0073	7	228	0.0307	-47	c.163 others(66): Show c.1634+2381_1634+2427delAAAAAAATATATATATATATATATAT ATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865248	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02056.hp2 HG02523.hp1 others(4): Show HG00609.hp2 HG02056.hp2 HG02523.hp1 HG02886.hp2 NA18965.hp2 NA18989.hp1 NA19001.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0032 a0002c0003 a0002c0005 a0002c0032	a0002c0003t0001 a0002c0003t0007 a0002c0003t0013 others(4): Show a0002c0003t0001 a0002c0003t0007 a0002c0003t0013 a0002c0003t0014 a0002c0005t0007 a0002c0005t0075 a0002c0032t0046	a0002c0003t0001g0108 a0002c0003t0007g0094 a0002c0003t0013g0141 others(4): Show a0002c0003t0001g0108 a0002c0003t0007g0094 a0002c0003t0013g0141 a0002c0003t0014g0165 a0002c0005t0007g0086 a0002c0005t0075g0010 a0002c0032t0046g0116	7	228	0.0307	-47	c.163 others(66): Show c.1634+2379_1634+2425delAAAAAAAAATATATATATATATATAT ATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865250	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18989.hp2 HG03490.hp2 NA18989.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0219 a0002c0003t0004g0226 a0002c0003t0004g0219 a0002c0003t0004g0226	2	228	0.0088	-47	c.163 others(66): Show c.1634+2377_1634+2423delAAAAAAAAAAATATATATATATATAT ATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSPC1_chr13_19697500_19787945	19779280	GGGGGGGG others(40): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03453.hp2 others(4): Show HG01167.hp1 HG01169.hp2 HG03453.hp2 HG03471.hp1 HG03710.hp1 HG03834.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 others(4): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0013g0121	7	258	0.0271	-47	c.372 others(64): Show c.372+3059_372+3105delGTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PTP4A2_chr1_31901421_31943368	31908135	TTATATTA others(40): Show TTATATTATATATATATATATATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0313 a0001c0001t0097g0313	1	354	0.0028	-47	c.67 others(56): Show c.670_*716delTATATATATATATATATATATATATATATATATATA TATATAATATA	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	670		chr1	TogoVar
PTP4A3_chr8_141387021_141437454	141427100	TGTCAGGT others(40): Show TGTCAGGTGGTTGGGCATCTCGTGGTCTGACAGCCTCGCTTTTGGATG	T T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	323	0.0031	-47	c.329 others(60): Show c.329+32_329+78delGTCAGGTGGTTGGGCATCTCGTGGTCTGACAG CCTCGCTTTTGGATG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	4/5			chr8	TogoVar
PTPRO_chr12_15317508_15603331	15513093	AAGAAAGA others(40): Show AAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp2 HG01515.hp1 others(11): Show HG01123.hp1 HG01167.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01934.hp2 HG02145.hp2 HG02683.hp1 HG02965.hp1 HG03130.hp2 HG03704.hp2 NA18949.hp2 NA18989.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0010	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0004t0002 a0003c0010t0013	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0119 others(11): Show a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0119 a0001c0001t0001g0156 a0001c0001t0007g0083 a0001c0001t0007g0085 a0001c0002t0001g0013 a0001c0002t0001g0140 a0001c0002t0003g0129 a0001c0002t0005g0075 a0001c0003t0001g0036 a0001c0003t0001g0145 a0001c0004t0002g0127 a0003c0010t0013g0054	14	164	0.0854	-47	c.146 others(66): Show c.1465-2403_1465-2357delGAAAGAAAGAAAGAAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXDN_chr2_1626887_1749515	1710729	CCTCTCCA others(40): Show CCTCTCCACCAGCACCCACTCCACCAGCACCCACTCCACCAGCACCCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00733.hp2 others(45): Show HG00140.hp2 HG00323.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02129.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02886.hp1 HG02976.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0012 a0001c0016 a0001c0019 a0001c0046 a0005c0041 a0006c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0022 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0004t0004 a0001c0010t0008 a0001c0012t0016 a0001c0016t0007 a0001c0019t0003 a0001c0019t0009 a0001c0046t0003 a0005c0041t0002 a0006c0047t0001	a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 others(45): Show a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0170 a0001c0001t0001g0268 a0001c0001t0002g0018 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0171 a0001c0001t0004g0302 a0001c0001t0005g0055 a0001c0001t0005g0130 a0001c0001t0005g0132 a0001c0001t0010g0208 a0001c0001t0022g0320 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0060 a0001c0002t0003g0142 a0001c0002t0003g0144 a0001c0002t0003g0146 a0001c0002t0003g0148 a0001c0003t0001g0035 a0001c0003t0001g0085 a0001c0003t0001g0141 a0001c0003t0002g0124 a0001c0003t0002g0287 a0001c0003t0012g0123 a0001c0004t0004g0029 a0001c0004t0004g0209 a0001c0010t0008g0049 a0001c0012t0016g0122 a0001c0016t0007g0064 a0001c0019t0003g0010 a0001c0019t0009g0050 a0001c0046t0003g0011 a0005c0041t0002g0133 a0006c0047t0001g0040	48	322	0.1491	-47	c.201 others(66): Show c.201-17642_201-17596delTGGGTGCTGGTGGAGTGGGTGCTGGT GGAGTGGGTGCTGGTGGAGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1711440	ACTCCACC others(40): Show ACTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAGCACCCG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp2 HG03098.hp1 others(1): Show HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0022 a0001c0032 others(1): Show a0001c0001 a0001c0022 a0001c0032 a0003c0018	a0001c0001t0019 a0001c0022t0014 a0001c0032t0028 others(1): Show a0001c0001t0019 a0001c0022t0014 a0001c0032t0028 a0003c0018t0005	a0001c0001t0019g0242 a0001c0022t0014g0047 a0001c0032t0028g0046 others(1): Show a0001c0001t0019g0242 a0001c0022t0014g0047 a0001c0032t0028g0046 a0003c0018t0005g0048	4	322	0.0124	-47	c.201 others(66): Show c.201-18353_201-18307delCGGGTGCTGGTGGAGCGGGTGCTGGT GGAGAGTGGGTGCTGGTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132692553	AGTTAGTG others(40): Show AGTTAGTGAGCACCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03490.hp2 HG04199.hp2 HG00738.hp2 HG03490.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0055 a0001c0002t0002g0022 a0001c0002t0002g0055	3	350	0.0086	-47	c.236 others(64): Show c.236+2178_236+2224delGTTAGTGAGCACCCTTGCCAGTTAGTTA GTGAGCGCCCTTGCCAGTT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4			chr12	TogoVar
PYGO1_chr15_55533884_55593345	55580827	CTAAAACA others(40): Show CTAAAACAAGAATGTCAGAAGACAGAACTGTATCATCTTCCCAGGAGG	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0355 a0001c0001t0004g0355	1	412	0.0024	-47	c.49+ others(62): Show c.49+6961_49+7007delCCTCCTGGGAAGATGATACAGTTCTGTCTT CTGACATTCTTGTTTTA	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
QSOX2_chr9_136201333_136250812	136221052	GCAGAGGC others(40): Show GCAGAGGCAAAGGGCTTATCCTCATGAGGGGCACACAGGCACTCCACA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03831.hp2 NA19057.hp2 HG02165.hp1 HG03831.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0101 a0001c0001t0042 a0001c0001t0101	a0001c0001t0042g0331 a0001c0001t0042g0332 a0001c0001t0101g0333 a0001c0001t0042g0331 a0001c0001t0042g0332 a0001c0001t0101g0333	3	392	0.0077	-47	c.821 others(62): Show c.821+697_821+743delTGTGGAGTGCCTGTGTGCCCCTCATGAGGA TAAGCCCTTTGCCTCTG	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	6/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136221201	AAAGGGCT others(40): Show AAAGGGCTTATCCTCATGAGGGGCACACAGGCACCCCACGCAGGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0319 a0001c0001t0053g0319	1	392	0.0026	-47	c.821 others(62): Show c.821+548_821+594delCGCCCCTGCGTGGGGTGCCTGTGTGCCCCT CATGAGGATAAGCCCTT	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	6/11			chr9	TogoVar
R3HDM2_chr12_57248764_57436043	57427491	AGGCGTGT others(40): Show AGGCGTGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGAT	A A	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	336	0.0030	-47	c.-10 others(66): Show c.-106+3182_-106+3228delATCTCTACTAAAAATACAAAAATTAG CTGGGTGTGGTGGTACACGCC	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	1/23			chr12	TogoVar
RAB44_chr6_36692826_36738184	36734321	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG03491.hp1 HG00735.hp2 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0320 a0001c0002t0003g0323 a0001c0002t0003g0320 a0001c0002t0003g0323	2	428	0.0047	-47	c.22 others(58): Show c.2229_*2275delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGA	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1138		chr6	TogoVar
RADIL_chr7_4792055_4888716	4887348	ATAACTAA others(40): Show ATAACTAATACCCCTTATCCAGAAAGATCTTCCTGTCTCCTAGACCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0057 a0005c0003t0057	a0005c0003t0057g0240 a0005c0003t0057g0240	1	292	0.0034	-47	c.-38 others(58): Show c.-3864_-3818delCAGGTCTAGGAGACAGGAAGATCTTTCTGGATAA GGGGTATTAGTTA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		3633		chr7	TogoVar
RARS1_chr5_168481471_168524301	168486811	CCTGGCAT others(40): Show CCTGGCATGTTCAGAACAGTTCTCTCCCTACAATCCACCTCCTCTTCT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	394	0.0025	-47	c.45+ others(60): Show c.45+269_45+315delCTGGCATGTTCAGAACAGTTCTCTCCCTACAA TCCACCTCCTCTTCT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	1/14			chr5	TogoVar
RASA3_chr13_113972783_114137623	113974168	TGCAGGCC others(40): Show TGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG04115.hp2 HG02258.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0002 a0001c0001t0001 a0001c0010t0002	a0001c0001t0001g0044 a0001c0010t0002g0052 a0001c0001t0001g0044 a0001c0010t0002g0052	2	67	0.0299	-47	c.51 others(58): Show c.5132_*5178delGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCC AGCCCCGGCCTGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		3614		chr13	TogoVar
RASAL1_chr12_113094278_113140761	113101656	GCTCCAGG others(40): Show GCTCCAGGTATTAAAAGATCCCAAGACCCAGTTCTGCATAAGGGACCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(3): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG01358.hp2 HG03209.hp1 HG04184.hp2	a0002 a0003 a0002 a0003	a0002c0006 a0002c0018 a0002c0025 others(1): Show a0002c0006 a0002c0018 a0002c0025 a0003c0010	a0002c0006t0004 a0002c0018t0004 a0002c0025t0004 others(1): Show a0002c0006t0004 a0002c0018t0004 a0002c0025t0004 a0003c0010t0007	a0002c0006t0004g0089 a0002c0006t0004g0198 a0002c0006t0004g0203 others(3): Show a0002c0006t0004g0089 a0002c0006t0004g0198 a0002c0006t0004g0203 a0002c0018t0004g0040 a0002c0025t0004g0113 a0003c0010t0007g0027	6	316	0.0190	-47	c.222 others(64): Show c.2225+186_2225+232delGGGTCCCTTATGCAGAACTGGGTCTTGG GATCTTTTAATACCTGGAG	RASAL1	ENSG00000111344.12	transcript	ENST00000548055.2	protein_coding	19/20			chr12	TogoVar
RB1CC1_chr8_52617458_52719435	52698669	GGTTTTTT others(40): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0005 a0002c0014t0005	a0002c0014t0005g0291 a0002c0014t0005g0291	1	306	0.0033	-47	c.-16 others(68): Show c.-166-11749_-166-11703delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAC	RB1CC1	ENSG00000023287.13	transcript	ENST00000025008.10	protein_coding	1/23			chr8	TogoVar
RBFOX1_chr16_6014024_7718340	6487689	AAAAAAAA others(40): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	68	0.0147	-47	c.-63 others(68): Show c.-63-166912_-63-166866delAAAAAAAAAAATATATATATATAT ATATATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7008659	TCCTCCCT others(40): Show TCCTCCCTCCCTCCCTTCCTCCTCCCTTCCTCCCTCCCTCCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG03139.hp2 others(3): Show HG02559.hp2 HG02622.hp2 HG03139.hp2 HG03471.hp1 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0001t0036 a0001c0001t0037 a0001c0002t0038	a0001c0001t0003g0006 a0001c0001t0006g0038 a0001c0001t0023g0047 others(3): Show a0001c0001t0003g0006 a0001c0001t0006g0038 a0001c0001t0023g0047 a0001c0001t0036g0032 a0001c0001t0037g0029 a0001c0002t0038g0023	6	68	0.0882	-47	c.-15 others(66): Show c.-15-43386_-15-43340delCCCTTCCTCCTCCCTTCCTCCCTCCC TCCCTTCCTCCCTCCCTCCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM19_chr12_113817057_113971325	113850044	CTTTCCTT others(40): Show CTTTCCTTCCAACCCTCCTCTTGGCCTAAGGGAGATGACAGTTCTGGG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0314 a0001c0001t0003g0314	1	356	0.0028	-47	c.266 others(66): Show c.2665-5303_2665-5257delCCCAGAACTGTCATCTCCCTTAGGCC AAGAGGAGGGTTGGAAGGAAA	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	22/23			chr12	TogoVar
RELL1_chr4_37605634_37691376	37653324	CTCAATAC others(40): Show CTCAATACAAGTATTGAAACCTCAATACAAGTATTGAAACCTCAATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03017.hp2 HG04199.hp2 others(1): Show HG02622.hp2 HG03017.hp2 HG04199.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0028 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0028 a0001c0001t0064	a0001c0001t0001g0313 a0001c0001t0007g0137 a0001c0001t0028g0012 others(1): Show a0001c0001t0001g0313 a0001c0001t0007g0137 a0001c0001t0028g0012 a0001c0001t0064g0240	4	324	0.0124	-47	c.89- others(62): Show c.89-3871_89-3825delATATTGAGGTTTCAATACTTGTATTGAGGT TTCAATACTTGTATTGA	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
RELL1_chr4_37605634_37691376	37669187	GGGGGGTC others(40): Show GGGGGGTCAGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG02258.hp2 others(12): Show HG01243.hp1 HG01255.hp1 HG02258.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0020 a0001c0001t0028 a0001c0001t0050 a0001c0006t0025	a0001c0001t0001g0024 a0001c0001t0001g0249 a0001c0001t0002g0009 others(12): Show a0001c0001t0001g0024 a0001c0001t0001g0249 a0001c0001t0002g0009 a0001c0001t0005g0017 a0001c0001t0005g0021 a0001c0001t0005g0032 a0001c0001t0005g0035 a0001c0001t0005g0258 a0001c0001t0008g0008 a0001c0001t0008g0022 a0001c0001t0020g0018 a0001c0001t0020g0027 a0001c0001t0028g0012 a0001c0001t0050g0013 a0001c0006t0025g0023	15	324	0.0463	-47	c.88+ others(64): Show c.88+16966_88+17012delACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCAGGGGGCTGACCCCC	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
RELL1_chr4_37605634_37691376	37669220	GTCCGGGA others(40): Show GTCCGGGAGGGAGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0002 a0001c0001t0018g0002	2	324	0.0062	-47	c.88+ others(64): Show c.88+16933_88+16979delTGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCACCTCCCTCCCGGA	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
REM1_chr20_31470288_31489895	31471317	CCCCCCCA others(40): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG02451.hp1 others(8): Show HG01109.hp1 HG02145.hp1 HG02451.hp1 HG02630.hp2 HG02896.hp1 HG03486.hp2 HG03579.hp2 HG06807.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0004 a0002c0002t0001g0098 a0002c0002t0001g0099 others(3): Show a0002c0002t0001g0004 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0004g0039 a0002c0002t0004g0089 a0002c0002t0004g0093	11	344	0.0320	-47	c.-42 others(58): Show c.-4268_-4222delCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGCTGA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		3970		chr20	TogoVar
REM1_chr20_31470288_31489895	31471356	GGGGGCTG others(40): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	344	0.0029	-47	c.-42 others(58): Show c.-4229_-4183delGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGC	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		3931		chr20	TogoVar
RERE_chr1_8347404_8822640	8501616	GGGGGGTC others(40): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0014 a0001c0019t0014	a0001c0019t0014g0119 a0001c0019t0014g0119	1	204	0.0049	-47	c.880 others(64): Show c.880-4134_880-4088delACCTCCCTCCCGGACTGGGCGGCTGGCC GGGCGGGGGGCTGACCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
REV3L_chr6_111294033_111488218	111303671	CTTTTTTT others(40): Show CTTTTTTTTTTTTTTTTTAACAGACTATGACTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG04115.hp2 HG01496.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0225 a0002c0002t0001g0230 a0002c0002t0001g0225 a0002c0002t0001g0230	2	288	0.0069	-47	c.925 others(66): Show c.9253-3562_9253-3516delAAAAAAAAAAAAAAAAAGTCATAGTC TGTTAAAAAAAAAAAAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
RGS19_chr20_64068181_64084518	64074614	GGCAGGCA others(40): Show GGCAGGCACCTGACACACATGGGCACCCACTGCAGGAGGGCAGCCCCT	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18967.hp1 NA19060.hp1 others(2): Show NA18963.hp2 NA18967.hp1 NA19060.hp1 NA19078.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0053 a0001c0001t0001g0013 a0001c0001t0001g0053	5	390	0.0128	-47	c.153 others(61): Show c.153-120_153-74delAGGGGCTGCCCTCCTGCAGTGGGTGCCCATG TGTGTCAGGTGCCTGC	RGS19	ENSG00000171700.14	transcript	ENST00000395042.2	protein_coding	3/5			chr20	TogoVar
RGS3_chr9_113458727_113602738	113487024	TGTTAATA others(40): Show TGTTAATAACAATAGCAATTGCTGACTGGGTGCTGACCTGGAGCCAGG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02698.hp2 HG02055.hp1 HG02698.hp2	a0001 a0001	a0001c0018 a0001c0019 a0001c0018 a0001c0019	a0001c0018t0001 a0001c0019t0001 a0001c0018t0001 a0001c0019t0001	a0001c0018t0001g0139 a0001c0019t0001g0092 a0001c0018t0001g0139 a0001c0019t0001g0092	2	168	0.0119	-47	c.353 others(64): Show c.353+1333_353+1379delTTAATAACAATAGCAATTGCTGACTGGG TGCTGACCTGGAGCCAGGG	RGS3	ENSG00000138835.24	transcript	ENST00000695401.1	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr9	TogoVar
RGSL1_chr1_182445146_182565597	182497316	GATATATA others(40): Show GATATATATATTATATATATATATTTTTATATCTCCTGATATAAAAAT	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0110 a0003c0003t0002g0110	1	338	0.0030	-47	c.182 others(66): Show c.1825+4198_1825+4244delTATATATATATATTTTTATATCTCCT GATATAAAAATATATATATAT	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHOC_chr1_112696131_112712127	112706430	TACACACA others(40): Show TACACACACACACACACACACACACACACACACACCACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	428	0.0023	-47	c.-77 others(62): Show c.-77+601_-77+647delGTGTGTGTGTGTGGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RIMBP2_chr12_130391133_130721299	130498098	GGTCATTC others(40): Show GGTCATTCTCCATGAAGGCAGCACTGACTCCAGGCCTCCGGCTGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG00741.hp1 others(34): Show HG00544.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG02083.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02683.hp1 HG02683.hp2 HG02818.hp1 HG03139.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 NA18522.hp1 NA18950.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0008 a0017	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0019 a0001c0028 a0002c0009 a0002c0033 a0004c0039 a0007c0017 a0008c0015 a0017c0037	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0019t0001 a0001c0028t0001 a0002c0009t0001 a0002c0033t0008 a0004c0039t0001 a0007c0017t0001 a0008c0015t0001 a0017c0037t0001	a0001c0001t0001g0029 a0001c0001t0001g0103 a0001c0001t0001g0119 others(34): Show a0001c0001t0001g0029 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0002g0031 a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0065 a0001c0002t0001g0168 a0001c0002t0001g0177 a0001c0002t0002g0007 a0001c0002t0002g0017 a0001c0002t0002g0044 a0001c0003t0001g0077 a0001c0003t0001g0086 a0001c0003t0001g0116 a0001c0003t0001g0142 a0001c0005t0001g0047 a0001c0005t0001g0085 a0001c0005t0001g0099 a0001c0006t0001g0039 a0001c0006t0001g0081 a0001c0007t0001g0138 a0001c0008t0001g0143 a0001c0008t0001g0153 a0001c0011t0001g0125 a0001c0019t0001g0023 a0001c0028t0001g0114 a0002c0009t0001g0147 a0002c0033t0008g0166 a0004c0039t0001g0132 a0007c0017t0001g0055 a0007c0017t0001g0056 a0008c0015t0001g0066 a0008c0015t0001g0133 a0017c0037t0001g0002	37	180	0.2056	-47	c.-4+ others(62): Show c.-4+8503_-4+8549delGGGGCAGCCGGAGGCCTGGAGTCAGTGCTG CCTTCATGGAGAATGAC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641321	ATCACGGG others(40): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0125 a0001c0011t0001g0125	1	180	0.0056	-47	c.-35 others(68): Show c.-351-12912_-351-12866delAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641368	TTCACGGG others(40): Show TTCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp1 HG03098.hp1 others(2): Show HG01243.hp1 HG02970.hp1 HG03098.hp1 HG03225.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0024 a0001c0032 others(2): Show a0001c0004 a0001c0024 a0001c0032 a0001c0049 a0002c0029	a0001c0004t0001 a0001c0024t0001 a0001c0032t0001 others(2): Show a0001c0004t0001 a0001c0024t0001 a0001c0032t0001 a0001c0049t0001 a0002c0029t0001	a0001c0004t0001g0001 a0001c0024t0001g0170 a0001c0032t0001g0026 others(2): Show a0001c0004t0001g0001 a0001c0024t0001g0170 a0001c0032t0001g0026 a0001c0049t0001g0169 a0002c0029t0001g0012	5	180	0.0278	-47	c.-35 others(68): Show c.-351-12959_-351-12913delTGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNASE10_chr14_20500537_20518884	20506628	CCCCCCGC others(40): Show CCCCCCGCCTGGCCAGCCGCCCAGTCCAGGAGGGAGGTGGGGGGTCAG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0142 a0001c0001t0079g0142	1	396	0.0025	-47	c.-6+ others(60): Show c.-6+615_-6+661delGCCTGGCCAGCCGCCCAGTCCAGGAGGGAGGT GGGGGGTCAGCCCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF126_chr19_642526_668214	667299	TCCCAGGC others(40): Show TCCCAGGCGGACCACGTCCCAGGCGGACCACGTCCCAGGCGGACCAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(59): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02148.hp2 HG02300.hp1 HG02922.hp1 HG02965.hp1 HG03225.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18984.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp2 NA19081.hp1 NA19083.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0004t0004	a0001c0001t0001g0018 a0001c0001t0001g0129 a0001c0001t0001g0139 others(54): Show a0001c0001t0001g0018 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0264 a0001c0001t0001g0322 a0001c0001t0001g0345 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0363 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0388 a0001c0001t0007g0017 a0001c0001t0009g0379 a0001c0002t0001g0001 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0285 a0001c0002t0001g0291 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0323 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0358 a0001c0002t0001g0371 a0001c0002t0001g0378 a0001c0004t0004g0338 a0001c0004t0004g0365 a0001c0004t0004g0366 a0001c0004t0004g0370 a0001c0004t0004g0372 a0001c0004t0004g0376 a0001c0004t0004g0377	62	434	0.1429	-47	c.-42 others(58): Show c.-4225_-4179delCTTGGTCCGCCTGGGACGTGGTCCGCCTGGGACG TGGTCCGCCTGGG	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4086		chr19	TogoVar
RNF126_chr19_642526_668214	667353	CGGACCAC others(40): Show CGGACCACGTCCCAGGCGGACCACGTCCCAGGCGGACCAAGCCCAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02258.hp1 others(19): Show HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 NA18522.hp1 NA18522.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0270 a0001c0001t0001g0361 a0001c0001t0002g0006 others(18): Show a0001c0001t0001g0270 a0001c0001t0001g0361 a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0002t0001g0269 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0042	22	434	0.0507	-47	c.-42 others(58): Show c.-4279_-4233delACCTGGGCTTGGTCCGCCTGGGACGTGGTCCGCC TGGGACGTGGTCC	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4140		chr19	TogoVar
RNF150_chr4_140854807_141138469	140892673	CTCCTTCC others(40): Show CTCCTTCCCCCTGGGGAGGGATGTCGGCGACTTCTTGGCCTCACAAGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02145.hp1 others(16): Show HG01261.hp1 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02723.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 others(12): Show a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0050 a0001c0001t0061 a0001c0001t0069 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0080 a0001c0001t0082 a0001c0006t0033 a0002c0002t0079	a0001c0001t0009g0020 a0001c0001t0014g0094 a0001c0001t0014g0151 others(16): Show a0001c0001t0009g0020 a0001c0001t0014g0094 a0001c0001t0014g0151 a0001c0001t0015g0030 a0001c0001t0016g0136 a0001c0001t0016g0140 a0001c0001t0019g0023 a0001c0001t0019g0048 a0001c0001t0019g0095 a0001c0001t0050g0082 a0001c0001t0061g0081 a0001c0001t0069g0046 a0001c0001t0072g0037 a0001c0001t0074g0039 a0001c0001t0075g0167 a0001c0001t0080g0033 a0001c0001t0082g0117 a0001c0006t0033g0177 a0002c0002t0079g0174	19	184	0.1033	-47	c.119 others(68): Show c.1198+18424_1198+18470delACTTGTGAGGCCAAGAAGTCGCCG ACATCCCTCCCCAGGGGGAAGGA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	6/6			chr4	TogoVar
RNF150_chr4_140854807_141138469	140935028	TTATAATA others(40): Show TTATAATATATATATATAAATATATATATTATATATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp1 HG02451.hp1 others(3): Show HG01261.hp1 HG01884.hp1 HG02451.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0014 a0001c0001t0037 others(3): Show a0001c0001t0009 a0001c0001t0014 a0001c0001t0037 a0001c0001t0069 a0001c0001t0073 a0002c0002t0079	a0001c0001t0009g0020 a0001c0001t0014g0094 a0001c0001t0037g0152 others(3): Show a0001c0001t0009g0020 a0001c0001t0014g0094 a0001c0001t0037g0152 a0001c0001t0069g0046 a0001c0001t0073g0019 a0002c0002t0079g0174	6	184	0.0326	-47	c.891 others(64): Show c.891-9002_891-8956delTATATATTATATATATATAATATATATA TTTATATATATATATTATA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	4/6			chr4	TogoVar
RNF157_chr17_76137474_76245493	76182810	GATATATA others(40): Show GATATATATCCTATATATCCTATATATGATATATAGGATATATAGGAT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0027 a0001c0004t0003g0027	1	234	0.0043	-47	c.208 others(64): Show c.208-9067_208-9021delATCCTATATATCCTATATATCATATATA GGATATATAGGATATATAT	RNF157	ENSG00000141576.16	transcript	ENST00000269391.11	protein_coding	2/18			chr17	TogoVar
RNF7_chr3_141733298_141752560	141746299	TTTTAGGT others(40): Show TTTTAGGTAACATGTTAATGAGGGAAAATGTTTACCAGTGTAGCATTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0056 a0001c0001t0033g0056	1	384	0.0026	-47	c.10 others(58): Show c.1023_*1069delTTTAGGTAACATGTTAATGAGGGAAAATGTTTAC CAGTGTAGCATTG	RNF7	ENSG00000114125.14	transcript	ENST00000273480.4	protein_coding	3/3	1023		chr3	TogoVar

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