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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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
SPRED3_chr19_38383697_38404587	38385765	A A	AGCCGGGG others(18): Show AGCCGGGGATGGGGCCGGGGCCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	360	0.0028	25	c.-30 others(36): Show c.-3047_-3046insGCCGGGGATGGGGCCGGGGCCGGGG	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding		2931		chr19	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02027.hp1 HG02040.hp1 others(14): Show HG00423.hp1 HG02027.hp1 HG02040.hp1 HG02135.hp1 HG04199.hp1 NA18960.hp1 NA18966.hp1 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18994.hp1 NA19004.hp1 NA19007.hp1 NA19055.hp1 NA19065.hp1 NA19079.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0048 a0001c0001t0058 a0001c0001t0088 a0001c0001t0090 a0001c0001t0142 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147	a0001c0001t0001g0177 a0001c0001t0004g0182 a0001c0001t0004g0183 others(14): Show a0001c0001t0001g0177 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0014g0181 a0001c0001t0032g0188 a0001c0001t0033g0178 a0001c0001t0034g0189 a0001c0001t0035g0187 a0001c0001t0048g0180 a0001c0001t0058g0227 a0001c0001t0088g0185 a0001c0001t0090g0225 a0001c0001t0142g0230 a0001c0001t0144g0186 a0001c0001t0145g0190 a0001c0001t0146g0184 a0001c0001t0147g0179	17	231	0.0736	25	c.-28 others(44): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCTCTCTCTCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY3_chrX_155607586_155787459	155751924	G G	GAAATAAA others(18): Show GAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18977.hp1 NA19062.hp1 HG03654.hp1 NA18977.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0090 a0001c0001t0120 a0001c0001t0022 a0001c0001t0090 a0001c0001t0120	a0001c0001t0022g0224 a0001c0001t0090g0225 a0001c0001t0120g0199 a0001c0001t0022g0224 a0001c0001t0090g0225 a0001c0001t0120g0199	3	231	0.0130	25	c.-28 others(46): Show c.-281-16000_-281-15976dupATAAAATAAAATAAAATAAAATAA A	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	370	0.0027	25	c.694 others(42): Show c.694+4574_694+4598dupTTTTTTTTTTTTTTTTTTTTTTTTT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02523.hp1 NA19011.hp1 others(1): Show HG01258.hp2 HG02523.hp1 NA19011.hp1 NA19087.hp2	a0001 a0003 a0058 a0001 a0003 a0058	a0001c0001 a0003c0005 a0058c0084 a0001c0001 a0003c0005 a0058c0084	a0001c0001t0002 a0003c0005t0010 a0058c0084t0002 a0001c0001t0002 a0003c0005t0010 a0058c0084t0002	a0001c0001t0002g0101 a0001c0001t0002g0134 a0003c0005t0010g0103 others(1): Show a0001c0001t0002g0101 a0001c0001t0002g0134 a0003c0005t0010g0103 a0058c0084t0002g0124	4	370	0.0108	25	c.258 others(44): Show c.2587+1667_2587+1691dupAAAAAAAAAAAAAAAAAAAAAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	312	0.0032	25	c.-3- others(40): Show c.-3-5074_-3-5050dupAAAAAAAAAAAAAAAAAAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02683.hp1 HG02071.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0133 a0001c0002t0006g0276 a0001c0002t0001g0133 a0001c0002t0006g0276	2	370	0.0054	25	c.-47 others(42): Show c.-47-3672_-47-3671insGAGAGAGAGAGAAGAGAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522704	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0138 a0001c0003t0003g0138	1	370	0.0027	25	c.-47 others(42): Show c.-47-3668_-47-3667insGAGAGAGAGAGAGAGAGAGAGAGAG	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0280 a0001c0009t0007g0280	1	370	0.0027	25	c.149 others(44): Show c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594833	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp1 HG02572.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0005t0011 a0001c0001t0010 a0001c0005t0011	a0001c0001t0010g0238 a0001c0005t0011g0254 a0001c0001t0010g0238 a0001c0005t0011g0254	2	370	0.0054	25	c.149 others(42): Show c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTB_chr14_64741283_64884907	64744771	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0219 a0002c0003t0005g0219	1	268	0.0037	25	c.45 others(36): Show c.4534_*4535insAAAAAAAAAAAAAAAAAAAAAAAAA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding		1511		chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(18): Show CTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18954.hp2 HG02165.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0095 a0001c0001t0001g0040 a0001c0001t0001g0095	2	246	0.0081	25	c.130 others(44): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18621323	C C	CAGAAAAG others(18): Show CAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02257.hp2 HG02523.hp1 others(16): Show HG01928.hp2 HG02257.hp2 HG02523.hp1 HG02602.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03579.hp1 NA18948.hp2 NA18951.hp2 NA18966.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA19000.hp2 NA19009.hp1 NA19011.hp1 NA19056.hp2 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0029 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0029 a0001c0005t0007 a0003c0004t0005	a0001c0001t0001g0042 a0001c0001t0001g0326 a0001c0001t0001g0327 others(15): Show a0001c0001t0001g0042 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0343 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0006g0304 a0001c0001t0006g0307 a0001c0001t0029g0368 a0001c0005t0007g0370 a0001c0005t0007g0372 a0001c0005t0007g0374 a0003c0004t0005g0149 a0003c0004t0005g0150	19	444	0.0428	25	c.61- others(40): Show c.61-4359_61-4335dupTTTCTTTTCTTTTCTTTTCTTTTCT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19030.hp1 NA18961.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0310 a0002c0003t0001g0075 a0001c0001t0001g0310 a0002c0003t0001g0075	2	444	0.0045	25	c.61- others(40): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATTATA others(18): Show CTATTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	340	0.0029	25	c.-92 others(34): Show c.-928_-927insTATTATATATATATATATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SQOR_chr15_45630029_45696281	45666831	T T	TCTCCCCT others(18): Show TCTCCCCTCCCCTCCTCTCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02698.hp1 HG03017.hp2 others(1): Show HG01169.hp1 HG02698.hp1 HG03017.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0165 a0001c0003t0001g0143 a0001c0003t0001g0233 others(1): Show a0001c0001t0001g0165 a0001c0003t0001g0143 a0001c0003t0001g0233 a0001c0003t0001g0257	4	340	0.0118	25	c.406 others(42): Show c.406-3083_406-3082insTCTCCTCTCCCCTCCCCTCCCCTCC	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SRBD1_chr2_45383680_45616267	45415713	G G	GGAGACGA others(18): Show GGAGACGAGAGGAGACGAGAGGAGAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	358	0.0028	25	c.233 others(44): Show c.2334-2421_2334-2420insGTCTCCTCTCGTCTCCTCTCGTCTC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	358	0.0028	25	c.130 others(44): Show c.1305+1665_1305+1689dupTTTTTTTTTTTTTTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTTCGTTT others(18): Show TTTCGTTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02293.hp2 HG01928.hp2 HG02293.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0016 a0001c0001 a0004c0016	a0001c0001t0001 a0004c0016t0001 a0001c0001t0001 a0004c0016t0001	a0001c0001t0001g0021 a0004c0016t0001g0020 a0001c0001t0001g0021 a0004c0016t0001g0020	2	261	0.0077	25	c.345 others(42): Show c.345+1344_345+1345insGGAAGGAAGGAAGGAAGGAAACGAA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17808414	A A	ATTATTTT others(18): Show ATTATTTTATTTTATTTTATTTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0135 a0001c0001t0013g0135	1	352	0.0028	25	c.41 others(36): Show c.4183_*4207dupAATAAAATAAAATAAAATAAAATAA	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding		2919		chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0286 a0001c0001t0017g0286	1	352	0.0028	25	c.91+ others(40): Show c.91+7521_91+7522insATATATATATTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SRGAP1_chr12_63839700_64167217	63951152	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0145	a0001c0001t0145g0005 a0001c0001t0145g0005	1	170	0.0059	25	c.68- others(42): Show c.68-32790_68-32766dupTTTTTTTTTTTTTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144882943	C C	CGGCGGCA others(18): Show CGGCGGCAAAAAGCCACGGCGGCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01099.hp1 others(5): Show HG00280.hp1 HG00735.hp2 HG01099.hp1 HG01978.hp2 HG02257.hp2 HG03669.hp1 HG03831.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 others(5): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0008g0005 a0001c0001t0012g0051 a0001c0001t0016g0038	8	56	0.1429	25	c.92 others(36): Show c.9216_*9217insCCGGCCGCCGTGGCTTTTTGCCGCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4344		chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206359798	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0023 a0005c0012t0023	a0005c0012t0023g0131 a0005c0012t0023g0131	1	182	0.0055	25	c.423 others(44): Show c.423+16792_423+16816dupTTTTTTTTTTTTTTTTTTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRMS_chr20_63533489_63552749	63535834	G G	GCCCCCCT others(18): Show GCCCCCCTCCTCACCTGGCCTCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0065 a0001c0002t0005g0065	1	356	0.0028	25	c.49 others(36): Show c.4983_*4984insGCGGGAGGCCAGGTGAGGAGGGGGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2654		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535841	C C	CCCCTCAC others(18): Show CCCCTCACCTGGCCTCCCGCCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	25	c.49 others(36): Show c.4976_*4977insAGGGGGGCGGGAGGCCAGGTGAGGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2647		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535887	T T	TCCTCACC others(18): Show TCCTCACCTGGCCTCCCGCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0017 a0001c0001t0012g0017	1	356	0.0028	25	c.49 others(36): Show c.4906_*4930dupGGGGGGGGCGGGAGGCCAGGTGAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2601		chr20	TogoVar
SRMS_chr20_63533489_63552749	63536042	G G	GCCCCCCT others(18): Show GCCCCCCTCCTCTCCTGGCCTCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	25	c.47 others(36): Show c.4775_*4776insGCGGGAGGCCAGGAGAGGAGGGGGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2446		chr20	TogoVar
SRMS_chr20_63533489_63552749	63536042	G G	GCCCCCTC others(18): Show GCCCCCTCCTCTCCTGGCCTCCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	25	c.47 others(36): Show c.4775_*4776insGGCGGGAGGCCAGGAGAGGAGGGGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2446		chr20	TogoVar
SRP54_chr14_34977992_35034567	34982258	T T	TTCCGTTA others(18): Show TTCCGTTAGAGCACTCAAAGCCCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(113): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02486.hp1 HG02486.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03453.hp1 HG03490.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19089.hp2 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(109): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0002g0375 a0001c0001t0002g0376 a0001c0001t0002g0377 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381 a0001c0001t0002g0382 a0001c0001t0002g0383 a0001c0001t0002g0384 a0001c0001t0002g0385 a0001c0001t0002g0386 a0001c0001t0002g0387 a0001c0001t0002g0388 a0001c0001t0002g0389 a0001c0001t0002g0390	116	396	0.2929	25	c.-99 others(34): Show c.-991_-990insTCCGTTAGAGCACTCAAAGCCCTGG	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding		733		chr14	TogoVar
SRPK2_chr7_105111374_105393921	105159464	A A	ACAAAAAA others(18): Show ACAAAAAAAAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG01891.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0018 a0001c0001t0001g0020	2	282	0.0071	25	c.621 others(42): Show c.621+1042_621+1043insGTTTTTTTTTTTGTTTTTTTTTTTG	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG01168.hp1 others(16): Show HG00621.hp1 HG00738.hp1 HG01168.hp1 HG01361.hp2 HG01433.hp1 HG01952.hp1 HG02056.hp1 HG03209.hp1 HG03654.hp1 HG03831.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18984.hp1 NA19007.hp1 NA19011.hp1 NA19056.hp1 NA19068.hp1 NA19082.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0029 a0001c0001t0031 a0001c0001t0046 a0004c0005t0003	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0126 others(14): Show a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0126 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0194 a0001c0001t0005g0143 a0001c0001t0005g0181 a0001c0001t0006g0259 a0001c0001t0006g0262 a0001c0001t0009g0271 a0001c0001t0029g0260 a0001c0001t0031g0010 a0001c0001t0046g0180 a0004c0005t0003g0182	19	318	0.0598	25	c.164 others(42): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTTTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02602.hp2 HG03490.hp2 others(3): Show HG02523.hp2 HG02602.hp2 HG03490.hp2 NA18964.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0086 a0001c0001t0001g0239 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0086 a0001c0001t0001g0239 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0258	6	352	0.0171	25	c.-28 others(36): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM3_chr7_76196896_76292287	76266168	T T	TTATTTAT others(18): Show TTATTTATATATTTAATATATATAAA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	324	0.0031	25	c.830 others(40): Show c.830+771_830+795dupATAAATATTTATATATTTAATATAT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRSF3_chr6_36589362_36610600	36596566	C C	CGGGTGCG others(18): Show CGGGTGCGGTGGGGGGTGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	382	0.0026	25	c.-2- others(38): Show c.-2-192_-2-191insTGCGGTGGGGGGTGGGGGGGGGGGG	SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRSF3_chr6_36589362_36610600	36596567	G G	GGGTGCGT others(18): Show GGGTGCGTGGGGTGGCGGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	382	0.0026	25	c.-2- others(38): Show c.-2-192_-2-191insTGCGTGGGGTGGCGGGGGGGGGTGG	SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRSF4_chr1_29142743_29186900	29181861	G G	GACGGACG others(18): Show GACGGACGCAGCCGAACCCCGGCGAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0324 a0002c0002t0009g0324	1	368	0.0027	25	c.-13 others(34): Show c.-134_-110dupGTCGCCGGGGTTCGGCTGCGTCCGT	SRSF4	ENSG00000116350.18	transcript	ENST00000373795.7	protein_coding	1/6	110		chr1	TogoVar
SRSF6_chr20_43452896_43469243	43460409	C C	CACTGTTT others(18): Show CACTGTTTAAAAACAGTGTATTTAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00642.hp2 others(8): Show HG00280.hp2 HG00639.hp1 HG00642.hp2 HG01361.hp2 HG02148.hp1 HG03942.hp2 NA18962.hp1 NA19002.hp2 NA19055.hp1 NA19064.hp1 NA19065.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0004 a0001c0005t0017 a0001c0006t0024 others(2): Show a0001c0005t0004 a0001c0005t0017 a0001c0006t0024 a0001c0006t0037 a0001c0006t0097	a0001c0005t0004g0012 a0001c0005t0004g0040 a0001c0005t0017g0012 others(4): Show a0001c0005t0004g0012 a0001c0005t0004g0040 a0001c0005t0017g0012 a0001c0005t0017g0033 a0001c0006t0024g0011 a0001c0006t0037g0039 a0001c0006t0097g0011	11	464	0.0237	25	c.591 others(40): Show c.591-106_591-105insACTGTTTAAAAACAGTGTATTTAAT	SRSF6	ENSG00000124193.16	transcript	ENST00000244020.5	protein_coding	4/5			chr20	TogoVar
SRSF8_chr11_95061919_95076225	95070368	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG03209.hp1 HG02258.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0000 a0001c0001t0031g0000	2	402	0.0050	25	c.23 others(36): Show c.2309_*2310insAAAAAAAAAAAAAAAAAAAAAAAAA	SRSF8	ENSG00000263465.5	transcript	ENST00000587424.3	protein_coding	1/1	2310	INFO_REALIGN_3_PRIME	chr11	TogoVar
SSBP2_chr5_81407804_81756097	81415922	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAGAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01891.hp2 HG02451.hp2 others(9): Show HG01175.hp2 HG01891.hp2 HG02451.hp2 HG02559.hp1 HG02647.hp1 HG02922.hp1 HG03098.hp1 HG03225.hp1 HG03540.hp2 HG04199.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0025 a0001c0001t0034 others(5): Show a0001c0001t0019 a0001c0001t0025 a0001c0001t0034 a0001c0001t0036 a0001c0001t0046 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052	a0001c0001t0019g0129 a0001c0001t0019g0133 a0001c0001t0025g0183 others(9): Show a0001c0001t0019g0129 a0001c0001t0019g0133 a0001c0001t0025g0183 a0001c0001t0025g0186 a0001c0001t0034g0141 a0001c0001t0034g0142 a0001c0001t0036g0033 a0001c0001t0036g0039 a0001c0001t0046g0075 a0001c0002t0050g0046 a0001c0002t0051g0010 a0001c0002t0052g0119	12	206	0.0583	25	c.45 others(36): Show c.4581_*4582insCTTTTCTTTTTTTTTTTTTTTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17	4581		chr5	TogoVar
SSBP2_chr5_81407804_81756097	81542817	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	206	0.0049	25	c.283 others(44): Show c.283-29101_283-29100insGAGAGAGAGAGAGAGAGAGAGAGAG	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	4/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01943.hp2 HG02280.hp1 others(1): Show HG00323.hp1 HG01943.hp2 HG02280.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0045	a0001c0001t0004g0060 a0001c0001t0008g0253 a0001c0001t0015g0016 others(1): Show a0001c0001t0004g0060 a0001c0001t0008g0253 a0001c0001t0015g0016 a0001c0001t0045g0264	4	280	0.0143	25	c.276 others(44): Show c.276+15177_276+15178insAAAAAAAAAAAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54392008	T T	TGCGCTCT others(18): Show TGCGCTCTCAGGCCCTCTCCTCCCGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0278 a0001c0002t0028g0278	1	280	0.0036	25	c.276 others(42): Show c.276+9828_276+9852dupGCGGGAGGAGAGGGCCTGAGAGCGC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54396193	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp2 NA18999.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0078 a0001c0001t0012g0012 a0001c0001t0004g0078 a0001c0001t0012g0012	2	280	0.0071	25	c.276 others(42): Show c.276+5643_276+5667dupTTTTTTTTTTTTTTTTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0013 a0013	a0013c0072 a0013c0072	a0013c0072t0001 a0013c0072t0001	a0013c0072t0001g0151 a0013c0072t0001g0151	1	412	0.0024	25	c.138 others(42): Show c.1387+451_1387+452insATATATATATATATATATATATATT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01106.hp1 others(1): Show HG00642.hp2 HG00733.hp1 HG01106.hp1 HG02165.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0094 a0005c0005t0001g0293 a0005c0005t0001g0294 others(1): Show a0001c0001t0001g0094 a0005c0005t0001g0293 a0005c0005t0001g0294 a0005c0005t0001g0295	4	412	0.0097	25	c.138 others(42): Show c.1387+451_1387+452insATATATATATATATATATATATTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0091 a0010c0091	a0010c0091t0001 a0010c0091t0001	a0010c0091t0001g0389 a0010c0091t0001g0389	1	412	0.0024	25	c.138 others(42): Show c.1387+451_1387+452insATATATATATATATATATATTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108859896	G G	GGGAGGGG others(18): Show GGGAGGGGAGAGGAGGGGAGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	332	0.0030	25	c.-24 others(36): Show c.-2425_-2401dupTCTCCCCTCCCCTCCTCTCCCCTCC	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		2314		chr12	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAATTATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	232	0.0043	25	c.63+ others(42): Show c.63+16590_63+16591insATATATAATTTTTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAATTATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp1 HG02683.hp1 others(3): Show HG00642.hp1 HG01167.hp1 HG02683.hp1 HG02698.hp1 HG03239.hp1 HG03942.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0007 a0007c0009t0001 a0001c0001t0001 a0001c0001t0007 a0007c0009t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0007g0039 a0007c0009t0001g0074	6	232	0.0259	25	c.63+ others(42): Show c.63+16590_63+16591insATATATATAATTTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar

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