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
SPDYE18_chr7_77045391_77067558	77060996	T T	TAAGAGTG others(35): Show TAAGAGTGAGAGTATCATGTACAAGAGTGAGATTATCACGTAC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18961.hp2 NA18967.hp1 others(3): Show NA18959.hp1 NA18961.hp2 NA18967.hp1 NA18971.hp1 NA18974.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0158 a0001c0001t0001g0159 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161	6	416	0.0144	42	c.-42 others(57): Show c.-421-64_-421-63insGTACGTGATAATCTCACTCTTGTACATGAT ACTCTCACTCTT	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	1/8			chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77060996	T T	TAAGAGTG others(35): Show TAAGAGTGAGAGTATCATGTACAAGAGTGAGATTATCATGTAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(61): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01192.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02293.hp2 HG02300.hp1 HG02572.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG03017.hp2 HG03453.hp1 HG03710.hp2 HG03834.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18960.hp1 NA18964.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18982.hp2 NA18984.hp1 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19012.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19084.hp1 NA19088.hp1 NA19089.hp2 NA20300.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0010 a0001c0001 a0004c0004 a0007c0010	a0001c0001t0001 a0001c0001t0013 a0001c0001t0021 others(6): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0001t0034 a0001c0001t0038 a0004c0004t0001 a0007c0010t0025	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(29): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0001t0021g0123 a0001c0001t0024g0139 a0001c0001t0028g0124 a0001c0001t0034g0130 a0001c0001t0038g0142 a0004c0004t0001g0041 a0004c0004t0001g0140 a0004c0004t0001g0141 a0007c0010t0025g0138	64	416	0.1539	42	c.-42 others(57): Show c.-421-64_-421-63insGTACATGATAATCTCACTCTTGTACATGAT ACTCTCACTCTT	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	1/8			chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77060996	T T	TAAGAGTG others(35): Show TAAGAGTGAGATTATCATGTACAAGAGTGAGATTATCATGTAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00639.hp2 others(30): Show HG00544.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG01074.hp2 HG01175.hp2 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02280.hp2 HG02523.hp1 HG02647.hp2 HG02738.hp2 NA18612.hp2 NA18950.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18985.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19005.hp2 NA19063.hp2 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0039 a0002c0002t0005 a0001c0001t0009 a0001c0001t0039 a0002c0002t0005	a0001c0001t0009g0036 a0001c0001t0009g0105 a0001c0001t0009g0106 others(18): Show a0001c0001t0009g0036 a0001c0001t0009g0105 a0001c0001t0009g0106 a0001c0001t0039g0104 a0002c0002t0005g0010 a0002c0002t0005g0013 a0002c0002t0005g0020 a0002c0002t0005g0037 a0002c0002t0005g0038 a0002c0002t0005g0108 a0002c0002t0005g0109 a0002c0002t0005g0110 a0002c0002t0005g0111 a0002c0002t0005g0112 a0002c0002t0005g0113 a0002c0002t0005g0114 a0002c0002t0005g0115 a0002c0002t0005g0116 a0002c0002t0005g0117 a0002c0002t0005g0118 a0002c0002t0005g0119	33	416	0.0793	42	c.-42 others(57): Show c.-421-64_-421-63insGTACATGATAATCTCACTCTTGTACATGAT AATCTCACTCTT	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	1/8			chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77061034	C C	CGTACAAG others(35): Show CGTACAAGAGTGAGATTATCATGTACAAGAGTGAGATTATCAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18962.hp1 HG01106.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0241 a0001c0001t0003g0242 a0001c0001t0002g0241 a0001c0001t0003g0242	2	416	0.0048	42	c.-42 others(59): Show c.-421-102_-421-101insATGATAATCTCACTCTTGTACATGATAA TCTCACTCTTGTAC	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	1/8			chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67278125	T T	TACATGAT others(35): Show TACATGATAATCTCACTCTTGCACATGATAATCTCACTCTTGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0198 a0003c0003t0002g0198	1	460	0.0022	42	c.-42 others(59): Show c.-422-126_-422-125insCACATGATAATCTCACTCTTGCACATGA TAATCTCACTCTTG	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67278212	A A	ATGATAAT others(35): Show ATGATAATCTCACTCTTGTACATGATAATCTCACTCTTGTACG	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18612.hp1 HG02300.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	2	460	0.0044	42	c.-42 others(57): Show c.-422-64_-422-63insGTACATGATAATCTCACTCTTGTACGTGAT AATCTCACTCTT	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102646940	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01081.hp2 HG01433.hp1 others(9): Show HG01070.hp1 HG01081.hp2 HG01433.hp1 HG01978.hp2 HG02135.hp2 HG02148.hp1 HG03491.hp1 HG03927.hp1 HG04228.hp1 NA19005.hp1 NA19062.hp1 NA19085.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0002c0002 a0005c0006 others(1): Show a0001c0001 a0002c0002 a0005c0006 a0011c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0002c0002t0001 a0005c0006t0007 a0005c0006t0030 a0011c0020t0007	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0025 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0006g0014 a0001c0001t0006g0024 a0001c0001t0008g0030 a0002c0002t0001g0006 a0002c0002t0001g0031 a0005c0006t0007g0034 a0005c0006t0030g0035 a0011c0020t0007g0037	12	128	0.0938	42	c.-38 others(53): Show c.-3859_-3858insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3378		chr7	TogoVar
SPDYE5_chr7_75487320_75509316	75493495	T T	TCTCTTGT others(35): Show TCTCTTGTACATGATAATCTCACTCTTGTACATGATAATCTCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp2 HG01192.hp1 others(27): Show HG00558.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01934.hp2 HG02080.hp2 HG02155.hp2 HG02258.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02895.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04228.hp1 NA18906.hp2 NA18950.hp1 NA18962.hp1 NA18985.hp2 NA19056.hp2 NA19084.hp2 NA19091.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0017 a0001c0001 a0002c0002 a0002c0017	a0001c0001t0001 a0002c0002t0004 a0002c0002t0005 others(3): Show a0001c0001t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0014 a0002c0017t0004	a0001c0001t0001g0012 a0001c0001t0001g0066 a0001c0001t0001g0067 others(18): Show a0001c0001t0001g0012 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0002c0002t0004g0011 a0002c0002t0004g0019 a0002c0002t0004g0136 a0002c0002t0004g0137 a0002c0002t0004g0141 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0144 a0002c0002t0004g0145 a0002c0002t0004g0146 a0002c0002t0005g0012 a0002c0002t0006g0151 a0002c0002t0014g0157 a0002c0002t0014g0158 a0002c0002t0014g0159 a0002c0017t0004g0147	30	408	0.0735	42	c.-42 others(58): Show c.-421-105_-421-64dupGTACATGATAATCTCACTCTTGTACATGA TAATCTCACTCTT	SPDYE5	ENSG00000170092.15	transcript	ENST00000625065.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0066 a0004c0005t0066	a0004c0005t0066g0224 a0004c0005t0066g0224	1	250	0.0040	42	c.-22 others(61): Show c.-22+12279_-22+12280insATATATATATATATATATATATATAT ATATATATTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp1 HG02145.hp2 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0044 a0001c0006t0045 a0001c0006t0044 a0001c0006t0045	a0001c0006t0044g0069 a0001c0006t0045g0071 a0001c0006t0044g0069 a0001c0006t0045g0071	2	250	0.0080	42	c.259 others(61): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20294669	A A	ATGGTGGT others(35): Show ATGGTGGTGGGGATGATGGTCATGGTTATGAAGGTACTGATGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19043.hp1 HG01934.hp1 NA19043.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0108 a0003c0012t0111 a0003c0012t0108 a0003c0012t0111	a0003c0012t0108g0100 a0003c0012t0111g0098 a0003c0012t0108g0100 a0003c0012t0111g0098	2	250	0.0080	42	c.294 others(61): Show c.2941-2251_2941-2250insGTGGTGGTGGGGATGATGGTCATGGT TATGAAGGTACTGATG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35751096	C C	CACACACA others(35): Show CACACACACACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03195.hp1 HG01243.hp2 HG03195.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0165 a0008c0009t0001g0167 a0008c0009t0001g0165 a0008c0009t0001g0167	2	268	0.0075	42	c.333 others(61): Show c.3331-2527_3331-2526insCACACACACACACACACACATATATA TATATATATATATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEM2_chr17_7420616_7432568	7429580	A A	AGGGAGTC others(35): Show AGGGAGTCTGCACGGGGACTGTACAAGGCGGGGATGATGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	42	c.20 others(53): Show c.2083_*2084insGGGAGTCTGCACGGGGACTGTACAAGGCGGGGAT GATGGGCG	SPEM2	ENSG00000184560.8	transcript	ENST00000333870.8	protein_coding		2013		chr17	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	A A	ATCTCTCT others(35): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	322	0.0031	42	c.139 others(59): Show c.139-4706_139-4665dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02071.hp2 HG00733.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0038 a0001c0001t0003g0025 a0001c0001t0002g0038 a0001c0001t0003g0025	2	176	0.0114	42	c.53- others(57): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TACACATA others(35): Show TACACATATATATATATATATATATACACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03041.hp1 HG03540.hp1 HG02109.hp2 HG03041.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0106 a0002c0002t0001g0048 a0002c0002t0001g0106	3	458	0.0066	42	c.294 others(57): Show c.294-615_294-614insCACATATATATATATATATATATACACATA TATATATACACA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPIRE1_chr18_12441512_12663107	12461440	A A	ATATGTAC others(35): Show ATATGTACGTACATACATGTGTGTATGTACGTACATATGTACG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	328	0.0031	42	c.163 others(61): Show c.1638+1910_1638+1911insCGTACATATGTACGTACATACACACA TGTATGTACGTACATA	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(35): Show AAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	356	0.0028	42	c.180 others(59): Show c.1807-513_1807-512insAAAAAAAATATATATATATATATATATA TATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(35): Show AAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0018 a0001c0009t0001g0018	1	356	0.0028	42	c.180 others(59): Show c.1807-513_1807-512insAAAAAATATATATATATATATATATATA TATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19081.hp1 HG00438.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0206 a0001c0001t0001g0168 a0001c0001t0001g0206	2	356	0.0056	42	c.180 others(59): Show c.1807-513_1807-512insAAAATATATATATATATATATATATATA TATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	260	0.0039	42	c.-12 others(53): Show c.-1200_-1199insAAAAAAAAAAAAAAAATATATATATATATATATA TATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0094 a0001c0003t0002g0094	1	152	0.0066	42	c.347 others(59): Show c.347+8590_347+8591insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(35): Show CATATATATACATATATATATATATATATATATGTGTATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	144	0.0069	42	c.589 others(61): Show c.589+28327_589+28328insATATATACACATATATATATATATAT ATATATGTATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(35): Show CATATATATACATATATATATATATATATATGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0002 a0002c0009t0003g0002	1	144	0.0069	42	c.589 others(61): Show c.589+28327_589+28328insATATATATACACATATATATATATAT ATATATGTATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 a0001c0001 a0001c0006 a0002c0004	a0001c0001t0002 a0001c0006t0002 a0002c0004t0002 a0001c0001t0002 a0001c0006t0002 a0002c0004t0002	a0001c0001t0002g0014 a0001c0006t0002g0006 a0002c0004t0002g0138 a0001c0001t0002g0014 a0001c0006t0002g0006 a0002c0004t0002g0138	3	144	0.0208	42	c.589 others(61): Show c.589+28327_589+28328insATATATACATATATATATATATATAT ATATATATATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14139709	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0107 a0001c0004t0001g0107	1	224	0.0045	42	c.825 others(59): Show c.825+4157_825+4158insATATATATATATATATATATATATATAT ATATATATATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPPL3_chr12_120757510_120909358	120830501	A A	AGAAGGAG others(35): Show AGAAGGAGGAGGGGGAAGGGGAGGGGGGAAGAAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG03017.hp2 others(3): Show HG00639.hp1 HG01074.hp2 HG03017.hp2 HG03831.hp2 HG03942.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0010g0010 others(3): Show a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0010g0010 a0001c0001t0010g0011 a0001c0001t0010g0012 a0001c0001t0010g0013	6	320	0.0188	42	c.24- others(59): Show c.24-19616_24-19615insCCCCTCCCCCTTCTTCCCCCCTCCCCTT CCCCCTCCTCCTTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRR2E_chr1_153088135_153099526	153089107	A A	AGGTTGGG others(35): Show AGGTTGGGGCAAAGTGGCTGGGGCAAAGTGGCTGGGGCAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG02132.hp2 others(12): Show HG00423.hp2 HG00558.hp1 HG02132.hp2 NA18747.hp2 NA18943.hp2 NA18953.hp2 NA18957.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18994.hp1 NA18998.hp2 NA19078.hp1 NA19083.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	15	456	0.0329	42	c.44 others(53): Show c.4425_*4426insACTTTGCCCCAGCCACTTTGCCCCAGCCACTTTG CCCCAACC	SPRR2E	ENSG00000203785.9	transcript	ENST00000368750.8	protein_coding		4027		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00642.hp1 others(26): Show HG00140.hp1 HG00609.hp1 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01517.hp1 HG01884.hp1 HG02004.hp2 HG02074.hp1 HG02109.hp2 HG02451.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03516.hp1 HG04184.hp2 NA18957.hp2 NA18961.hp1 NA18988.hp1 NA18990.hp1 NA19065.hp2 NA19084.hp2 NA19086.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 others(15): Show a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0030 a0001c0001t0047 a0001c0001t0073 a0001c0001t0092 a0001c0001t0127 a0001c0001t0128 a0001c0001t0136 a0001c0002t0028 a0001c0002t0029 a0001c0002t0074 a0001c0002t0124 a0001c0002t0125 a0001c0002t0126 a0003c0005t0046	a0001c0001t0006g0011 a0001c0001t0006g0021 a0001c0001t0006g0029 others(26): Show a0001c0001t0006g0011 a0001c0001t0006g0021 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0048 a0001c0001t0006g0207 a0001c0001t0016g0115 a0001c0001t0016g0138 a0001c0001t0018g0033 a0001c0001t0018g0034 a0001c0001t0020g0120 a0001c0001t0020g0128 a0001c0001t0030g0006 a0001c0001t0030g0027 a0001c0001t0047g0040 a0001c0001t0073g0014 a0001c0001t0092g0076 a0001c0001t0127g0144 a0001c0001t0128g0123 a0001c0001t0136g0192 a0001c0002t0028g0067 a0001c0002t0028g0069 a0001c0002t0029g0052 a0001c0002t0029g0121 a0001c0002t0074g0008 a0001c0002t0124g0196 a0001c0002t0125g0215 a0001c0002t0126g0036 a0003c0005t0046g0218	29	231	0.1255	42	c.29 others(53): Show c.2906_*2907insATATATATATATATATATATATATATATATGTAA ATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TTTATATA others(35): Show TTTATATATATATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0072 a0001c0001t0089g0072	1	231	0.0043	42	c.28 others(53): Show c.2898_*2899insTTATATATATATATATATATATATATATATATAT ATATGTAA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2899		chrX	TogoVar
SPTBN1_chr2_54451327_54676446	54522646	A A	AAGAAAGA others(35): Show AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19012.hp2 NA19056.hp2 NA18951.hp2 NA19012.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0001t0044 a0001c0003t0009 a0001c0001t0007 a0001c0001t0044 a0001c0003t0009	a0001c0001t0007g0270 a0001c0001t0044g0297 a0001c0003t0009g0235 a0001c0001t0007g0270 a0001c0001t0044g0297 a0001c0003t0009g0235	3	370	0.0081	42	c.-47 others(59): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AGGAGAGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0016 a0001c0012t0016	a0001c0012t0016g0135 a0001c0012t0016g0135	1	370	0.0027	42	c.-47 others(59): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAAAGAGAAA GAAAGAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTLC2_chr14_77500997_77621637	77531443	T T	TCTTCTTC others(35): Show TCTTCTTCTTCTTCTTCTCCTCCTCCTTCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02145.hp1 HG01081.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0026 a0001c0001t0021 a0001c0001t0026	a0001c0001t0021g0003 a0001c0001t0026g0160 a0001c0001t0021g0003 a0001c0001t0026g0160	2	246	0.0081	42	c.130 others(61): Show c.1304-9863_1304-9862insGAGGAGGAGGAGGAGAAGGAGGAGGA GAAGAAGAAGAAGAAG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038045	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0048 a0001c0005t0048	a0001c0005t0048g0164 a0001c0005t0048g0164	1	292	0.0034	42	c.118 others(61): Show c.118-10885_118-10884insTATATATATATATATATATATATATA TATATATATATATATA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRD5A2_chr2_31517480_31585938	31526104	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 NA19030.hp1 HG01891.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0030 a0003c0005t0015 a0001c0001t0030 a0003c0005t0015	a0001c0001t0030g0157 a0003c0005t0015g0152 a0001c0001t0030g0157 a0003c0005t0015g0152	2	386	0.0052	42	c.91 others(49): Show c.91_*92insATATATATATATATATATATATATATATATATATATAT ATAT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	5/5	91		chr2	TogoVar
SRGAP2C_chr1_121179975_121397874	121396325	C C	CCGCCGCC others(35): Show CCGCCGCCGCGGCTTTTTGCCCGCCGCGGATTTGTGCCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA18968.hp1 NA18970.hp2 others(2): Show HG00609.hp2 NA18968.hp1 NA18970.hp2 NA18991.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0198 others(2): Show a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0015g0142 a0001c0001t0015g0197	5	274	0.0183	42	c.84 others(53): Show c.8470_*8471insCGCCGCCGCGGCTTTTTGCCCGCCGCGGATTTGT GCCCCCCT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding		3452		chr1	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	396	0.0025	42	c.-34 others(59): Show c.-34+5364_-34+5365insAAAAAAAAAAAAAATATATATATATATA TATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	396	0.0025	42	c.-34 others(59): Show c.-34+5364_-34+5365insAAAAAAAAAAAATATATATATATATATA TATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(35): Show AAAAAAAATATATATATATATAACATATATATATATATAACAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18612.hp1 NA18945.hp2 HG00621.hp1 NA18612.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306	3	396	0.0076	42	c.-34 others(59): Show c.-34+5364_-34+5365insAAAAAATATATATATATATAACATATAT ATATATATAACATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAT others(35): Show AAAAAAATATATATATATATATATCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	396	0.0025	42	c.-34 others(59): Show c.-34+5364_-34+5365insAAAAATATATATATATATATATCATATA TATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATAACATATATATATATATAACAT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0361 a0001c0001t0002g0361	1	396	0.0025	42	c.-34 others(59): Show c.-34+5364_-34+5365insAAAATATATATATATATATAACATATAT ATATATATAACATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAATAT others(35): Show AAAAATATATATATATATATATATCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	396	0.0025	42	c.-34 others(59): Show c.-34+5364_-34+5365insAAATATATATATATATATATATCATATA TATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062503	A A	ATATATAA others(35): Show ATATATAATATACATTATATATTATATAATATACATTATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG01934.hp1 others(2): Show HG01109.hp2 HG01361.hp1 HG01934.hp1 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0092 a0001c0001t0002g0126 a0001c0001t0002g0180 others(2): Show a0001c0001t0002g0092 a0001c0001t0002g0126 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0002t0001g0155	5	365	0.0137	42	c.562 others(57): Show c.562-971_562-930dupATATATAATGTATATTATATAATATATAAT GTATATTATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062566	T T	TTATATAA others(35): Show TTATATAATATACATTATATATTATATAATATACATTATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	365	0.0027	42	c.562 others(57): Show c.562-993_562-992insTTATATAATGTATATTATATAATATATAAT GTATATTATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062615	A A	ATATACAT others(35): Show ATATACATTATATATTATATAATATACAATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19004.hp1 NA19058.hp1 NA18946.hp1 NA19004.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0097 a0001c0001t0002g0117 a0001c0001t0002g0118	3	365	0.0082	42	c.562 others(59): Show c.562-1042_562-1041insATATATAATATATATTGTATATTATATA ATATATAATGTATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062643	A A	ATATATAA others(35): Show ATATATAATATACATTATATATTATATAATATATAATATACAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02615.hp2 others(6): Show HG01884.hp2 HG02109.hp1 HG02615.hp2 HG02622.hp1 HG02976.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0139 a0001c0003t0001g0300 a0001c0003t0001g0302 others(6): Show a0001c0001t0002g0139 a0001c0003t0001g0300 a0001c0003t0001g0302 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0317 a0001c0003t0001g0318 a0001c0003t0001g0320 a0001c0003t0001g0331	9	365	0.0247	42	c.562 others(59): Show c.562-1070_562-1069insATGTATATTATATATTATATAATATATA ATGTATATTATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062664	A A	ATATATAA others(35): Show ATATATAATATACATTATATATTATATAATATATAATATACAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	365	0.0027	42	c.562 others(59): Show c.562-1091_562-1090insATGTATATTATATATTATATAATATATA ATGTATATTATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062730	T T	TATATATA others(35): Show TATATATATATATATATATATAAAATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0293 a0004c0009t0001g0293	1	365	0.0027	42	c.562 others(59): Show c.562-1157_562-1156insTTTATATATATATATATATTTTATATAT ATATATATATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062732	T T	TATATATA others(35): Show TATATATATATATATAAAATATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0307 a0001c0003t0001g0307	1	365	0.0027	42	c.562 others(59): Show c.562-1159_562-1158insTTTATATATATATATATATATATATTTT ATATATATATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRRM4_chr12_118976541_119168051	119008426	T T	TCTACTCT others(35): Show TCTACTCTTATCTAATGTTGTGTAACACCTAACCATGTTGGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp2 HG02976.hp2 others(1): Show HG02257.hp2 HG02922.hp2 HG02976.hp2 NA19030.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0011 a0003c0003 others(1): Show a0001c0001 a0001c0011 a0003c0003 a0008c0020	a0001c0001t0108 a0001c0011t0068 a0003c0003t0114 others(1): Show a0001c0001t0108 a0001c0011t0068 a0003c0003t0114 a0008c0020t0062	a0001c0001t0108g0133 a0001c0011t0068g0225 a0003c0003t0114g0197 others(1): Show a0001c0001t0108g0133 a0001c0011t0068g0225 a0003c0003t0114g0197 a0008c0020t0062g0004	4	328	0.0122	42	c.131 others(61): Show c.131+26500_131+26541dupACTCTTATCTAATGTTGTGTAACACC TAACCATGTTGGAGCT	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar

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