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 per page.

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
SORCS1_chr10_106568663_107169706	106602530	CACACACA others(15): Show CACACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0010 a0001c0022t0001g0010	1	130	0.0077	-22	c.316 others(41): Show c.3165+4614_3165+4635delTTGTGTGTGTGTGTGTGTGTGT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	23/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106986511	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp2 others(14): Show HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG01106.hp2 HG01433.hp2 HG01496.hp1 HG02071.hp1 HG02735.hp1 HG03516.hp1 HG03710.hp2 NA18943.hp1 NA18957.hp1 NA18971.hp2 NA18977.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0004t0004 a0001c0004t0014 a0001c0005t0001 a0001c0005t0002	a0001c0001t0002g0027 a0001c0001t0004g0004 a0001c0001t0004g0079 others(14): Show a0001c0001t0002g0027 a0001c0001t0004g0004 a0001c0001t0004g0079 a0001c0001t0009g0121 a0001c0002t0003g0026 a0001c0002t0003g0032 a0001c0002t0003g0063 a0001c0002t0003g0075 a0001c0002t0003g0106 a0001c0002t0003g0114 a0001c0003t0001g0120 a0001c0003t0002g0005 a0001c0004t0002g0102 a0001c0004t0004g0107 a0001c0004t0014g0088 a0001c0005t0001g0062 a0001c0005t0002g0030	17	130	0.1308	-22	c.559 others(41): Show c.559-29953_559-29932delACACACACACACACACACACAC	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7375866	CTTTCCCT others(15): Show CTTTCCCTACCATCGGCCGCTTG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02109.hp1 HG02257.hp2 others(9): Show HG01069.hp2 HG02109.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02886.hp1 HG03209.hp1 NA18522.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0016 a0001c0036 a0001c0048 a0002c0004 a0006c0020 a0013c0032	a0001c0001t0023 a0001c0002t0004 a0001c0003t0022 others(9): Show a0001c0001t0023 a0001c0002t0004 a0001c0003t0022 a0001c0005t0007 a0001c0005t0023 a0001c0005t0042 a0001c0016t0013 a0001c0036t0044 a0001c0048t0001 a0002c0004t0003 a0006c0020t0020 a0013c0032t0030	a0001c0001t0023g0168 a0001c0002t0004g0018 a0001c0003t0022g0043 others(9): Show a0001c0001t0023g0168 a0001c0002t0004g0018 a0001c0003t0022g0043 a0001c0005t0007g0065 a0001c0005t0023g0032 a0001c0005t0042g0157 a0001c0016t0013g0039 a0001c0036t0044g0022 a0001c0048t0001g0146 a0002c0004t0003g0012 a0006c0020t0020g0037 a0013c0032t0030g0149	12	168	0.0714	-22	c.481 others(41): Show c.481-20419_481-20398delTCCCTACCATCGGCCGCTTGTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	134	0.0075	-22	c.627 others(41): Show c.627+42858_627+42879delTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696071	TATATATC others(15): Show TATATATCATATACACATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG01070.hp1 others(40): Show HG00140.hp1 HG00609.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01517.hp1 HG01981.hp2 HG02622.hp2 HG02717.hp1 HG02738.hp1 HG02895.hp1 HG03017.hp2 HG03139.hp2 HG03471.hp2 HG03516.hp1 HG03688.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18970.hp1 NA18995.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19079.hp2 NA19090.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0008 a0010	a0001c0001 a0001c0002 a0001c0018 others(5): Show a0001c0001 a0001c0002 a0001c0018 a0002c0004 a0004c0009 a0006c0010 a0008c0020 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0005 a0001c0018t0002 a0002c0004t0001 a0004c0009t0002 a0006c0010t0001 a0008c0020t0001 a0010c0016t0004	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0037 others(40): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0072 a0001c0001t0001g0113 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0056 a0001c0001t0002g0095 a0001c0001t0002g0110 a0001c0001t0003g0023 a0001c0001t0003g0033 a0001c0001t0004g0028 a0001c0001t0004g0045 a0001c0001t0004g0048 a0001c0001t0004g0094 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0073 a0001c0002t0001g0086 a0001c0002t0001g0102 a0001c0002t0001g0114 a0001c0002t0001g0134 a0001c0002t0005g0074 a0001c0018t0002g0064 a0002c0004t0001g0132 a0004c0009t0002g0096 a0004c0009t0002g0097 a0006c0010t0001g0068 a0008c0020t0001g0024 a0010c0016t0004g0059	43	134	0.3209	-22	c.627 others(41): Show c.627+54137_627+54158delATAATATATCATATACACATAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104751924	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	134	0.0075	-22	c.628 others(41): Show c.628-90844_628-90823delTATATATATATATATATATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORT1_chr1_109304575_109402918	109378699	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01123.hp1 others(14): Show HG01069.hp2 HG01071.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG02056.hp1 HG02056.hp2 HG02735.hp2 HG02886.hp2 HG02965.hp1 HG03017.hp2 HG03688.hp2 NA19011.hp2 NA19066.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0002 a0001c0001t0014 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0001t0014 a0001c0002t0003 a0001c0003t0008 a0002c0006t0003	a0001c0001t0002g0025 a0001c0001t0002g0190 a0001c0001t0014g0027 others(14): Show a0001c0001t0002g0025 a0001c0001t0002g0190 a0001c0001t0014g0027 a0001c0001t0014g0069 a0001c0002t0003g0194 a0001c0002t0003g0196 a0001c0002t0003g0206 a0001c0002t0003g0216 a0001c0002t0003g0219 a0001c0002t0003g0223 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0236 a0001c0002t0003g0238 a0001c0003t0008g0006 a0002c0006t0003g0232	17	240	0.0708	-22	c.307 others(39): Show c.307-9132_307-9111delATATATATATATATATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOSTDC1_chr7_16456481_16470738	16470044	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	-22	c.-43 others(33): Show c.-4398_-4377delTATATATATATATATATATATA	SOSTDC1	ENSG00000171243.8	transcript	ENST00000307068.5	protein_coding		4307		chr7	TogoVar
SOWAHB_chr4_76889152_76903144	76900845	AAAAAAAC others(15): Show AAAAAAACAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp1 others(35): Show HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00621.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02630.hp2 HG03710.hp2 HG03927.hp2 HG04204.hp1 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18972.hp1 NA18977.hp2 NA18986.hp2 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19058.hp2 NA19064.hp1 NA19070.hp1 NA19078.hp2 NA19080.hp2 NA19082.hp1 NA19091.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0014	a0002c0002 a0003c0003 a0004c0004 others(2): Show a0002c0002 a0003c0003 a0004c0004 a0004c0020 a0014c0018	a0002c0002t0003 a0002c0002t0008 a0003c0003t0004 others(4): Show a0002c0002t0003 a0002c0002t0008 a0003c0003t0004 a0003c0003t0006 a0004c0004t0005 a0004c0020t0005 a0014c0018t0003	a0002c0002t0003g0000 a0002c0002t0008g0000 a0003c0003t0004g0000 others(4): Show a0002c0002t0003g0000 a0002c0002t0008g0000 a0003c0003t0004g0000 a0003c0003t0006g0000 a0004c0004t0005g0000 a0004c0020t0005g0000 a0014c0018t0003g0000	38	438	0.0868	-22	c.-30 others(33): Show c.-3018_-2997delGTTTTTTTTTTTTTTGTTTTTT	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding		2702		chr4	TogoVar
SOWAHB_chr4_76889152_76903144	76900858	AAAAAAAA others(15): Show AAAAAAAAACAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	438	0.0023	-22	c.-30 others(33): Show c.-3031_-3010delGTTTTTTTTTTTTGTTTTTTTT	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding		2715		chr4	TogoVar
SOX11_chr2_5687384_5706385	5705856	AGCTGGGG others(15): Show AGCTGGGGTGAAGGAGCTGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	434	0.0023	-22	c.11 others(35): Show c.11810_*11831delGCTGGGGTGAAGGAGCTGGGAG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4472		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706076	AGGAGGCT others(15): Show AGGAGGCTGGGGTAGAGGAGCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02451.hp2 NA18612.hp2 others(11): Show HG01952.hp1 HG02451.hp2 NA18612.hp2 NA18944.hp2 NA18954.hp1 NA18960.hp2 NA18964.hp2 NA18973.hp1 NA18982.hp1 NA18988.hp1 NA18994.hp2 NA18998.hp1 NA19087.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0018 a0001c0001t0047 a0001c0001t0080 a0001c0001t0089 a0001c0001t0105 a0001c0001t0106	a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0009g0000 others(7): Show a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0009g0000 a0001c0001t0016g0000 a0001c0001t0018g0000 a0001c0001t0047g0000 a0001c0001t0080g0000 a0001c0001t0089g0000 a0001c0001t0105g0000 a0001c0001t0106g0000	14	434	0.0323	-22	c.12 others(35): Show c.12030_*12051delGGAGGCTGGGGTAGAGGAGCAG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4692		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706147	GCTGGGGT others(15): Show GCTGGGGTAGAGGAGCAGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0000 a0001c0001t0022g0000	1	434	0.0023	-22	c.12 others(35): Show c.12101_*12122delCTGGGGTAGAGGAGCAGGGAGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4763		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706231	AGGAGGCT others(15): Show AGGAGGCTGGGGTAGAGGAGCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG01243.hp2 others(1): Show HG00733.hp1 HG01175.hp2 HG01243.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0204 a0001c0001t0025 a0001c0001t0204	a0001c0001t0025g0000 a0001c0001t0204g0000 a0001c0001t0025g0000 a0001c0001t0204g0000	4	434	0.0092	-22	c.12 others(35): Show c.12185_*12206delGGAGGCTGGGGTAGAGGAGCAG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4847		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706310	AGAGGAGC others(15): Show AGAGGAGCAGGGAGGCTGGGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(104): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02895.hp1 HG02970.hp1 HG03239.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0087 a0001c0001t0090 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0111 a0001c0001t0115 a0001c0001t0120 a0001c0001t0129 a0001c0001t0130 a0001c0001t0133 a0001c0001t0145 a0001c0001t0146 a0001c0001t0156 a0001c0001t0163 a0001c0001t0190 a0001c0001t0193 a0001c0001t0197 a0001c0002t0198 a0001c0005t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 others(53): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0009g0000 a0001c0001t0014g0000 a0001c0001t0016g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0022g0000 a0001c0001t0028g0000 a0001c0001t0029g0000 a0001c0001t0031g0000 a0001c0001t0033g0000 a0001c0001t0039g0000 a0001c0001t0040g0000 a0001c0001t0046g0000 a0001c0001t0047g0000 a0001c0001t0048g0000 a0001c0001t0074g0000 a0001c0001t0075g0000 a0001c0001t0076g0000 a0001c0001t0078g0000 a0001c0001t0079g0000 a0001c0001t0080g0000 a0001c0001t0081g0000 a0001c0001t0083g0000 a0001c0001t0087g0000 a0001c0001t0090g0000 a0001c0001t0092g0000 a0001c0001t0093g0000 a0001c0001t0094g0000 a0001c0001t0095g0000 a0001c0001t0097g0000 a0001c0001t0098g0000 a0001c0001t0099g0000 a0001c0001t0100g0000 a0001c0001t0101g0000 a0001c0001t0104g0000 a0001c0001t0105g0000 a0001c0001t0106g0000 a0001c0001t0107g0000 a0001c0001t0111g0000 a0001c0001t0115g0000 a0001c0001t0120g0000 a0001c0001t0129g0000 a0001c0001t0130g0000 a0001c0001t0133g0000 a0001c0001t0145g0000 a0001c0001t0146g0000 a0001c0001t0156g0000 a0001c0001t0163g0000 a0001c0001t0190g0000 a0001c0001t0193g0000 a0001c0001t0197g0000 a0001c0002t0198g0000 a0001c0005t0002g0000	107	434	0.2465	-22	c.12 others(35): Show c.12264_*12285delGAGGAGCAGGGAGGCTGGGGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4926		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706358	GAGCAGGG others(15): Show GAGCAGGGAGACTGGGGTGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG03490.hp2 HG03492.hp2 others(1): Show HG01123.hp2 HG03490.hp2 HG03492.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0008g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0008g0000 a0001c0001t0018g0000	4	434	0.0092	-22	c.12 others(35): Show c.12312_*12333delAGCAGGGAGACTGGGGTGGAGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4974		chr2	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 NA19091.hp1 HG02258.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	2	412	0.0049	-22	c.21 others(33): Show c.2120_*2141delTTTTTTTTTTTTTTTTTTTTTT	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		998		chr3	TogoVar
SOX5_chr12_23524504_23954670	23570924	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0076 a0001c0001t0008g0076	1	212	0.0047	-22	c.134 others(41): Show c.1342+4715_1342+4736delATATATATATATATATTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570930	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00609.hp2 others(9): Show HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00741.hp2 HG01258.hp2 HG02083.hp2 HG04115.hp2 HG04199.hp2 NA18959.hp2 NA18973.hp1 NA19056.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0030 others(9): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0078 a0001c0001t0091 a0001c0001t0095 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0105	a0001c0001t0002g0201 a0001c0001t0015g0102 a0001c0001t0030g0099 others(9): Show a0001c0001t0002g0201 a0001c0001t0015g0102 a0001c0001t0030g0099 a0001c0001t0032g0191 a0001c0001t0033g0036 a0001c0001t0078g0054 a0001c0001t0091g0178 a0001c0001t0095g0079 a0001c0001t0099g0055 a0001c0001t0100g0096 a0001c0001t0102g0016 a0001c0001t0105g0063	12	212	0.0566	-22	c.134 others(41): Show c.1342+4709_1342+4730delATATATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23792622	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0195 a0001c0005t0001g0195	1	212	0.0047	-22	c.482 others(41): Show c.482-36920_482-36899delTTTTTTTTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23804915	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp1 HG00741.hp2 others(25): Show HG00609.hp2 HG00735.hp1 HG00741.hp2 HG01261.hp2 HG01891.hp2 HG01934.hp1 HG02040.hp2 HG02132.hp1 HG02132.hp2 HG02486.hp2 HG02738.hp2 HG03239.hp1 HG03942.hp1 HG04115.hp2 HG06807.hp2 NA18959.hp2 NA18973.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19088.hp2 NA19091.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(22): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0041 a0001c0001t0045 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0078 a0001c0001t0102 a0001c0001t0104 a0001c0001t0107 a0001c0001t0108 a0001c0002t0005 a0001c0003t0080	a0001c0001t0002g0006 a0001c0001t0008g0067 a0001c0001t0009g0041 others(25): Show a0001c0001t0002g0006 a0001c0001t0008g0067 a0001c0001t0009g0041 a0001c0001t0015g0174 a0001c0001t0019g0075 a0001c0001t0020g0181 a0001c0001t0021g0129 a0001c0001t0021g0139 a0001c0001t0022g0176 a0001c0001t0026g0012 a0001c0001t0030g0099 a0001c0001t0032g0191 a0001c0001t0034g0015 a0001c0001t0035g0009 a0001c0001t0035g0018 a0001c0001t0041g0010 a0001c0001t0045g0103 a0001c0001t0073g0189 a0001c0001t0074g0175 a0001c0001t0076g0163 a0001c0001t0078g0054 a0001c0001t0102g0016 a0001c0001t0104g0134 a0001c0001t0107g0211 a0001c0001t0108g0050 a0001c0002t0005g0013 a0001c0002t0005g0180 a0001c0003t0080g0183	28	212	0.1321	-22	c.481 others(41): Show c.481+41046_481+41067delTATATATATATATATATATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23863793	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02886.hp2 HG03098.hp1 others(2): Show HG00741.hp2 HG02886.hp2 HG03098.hp1 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0030 a0001c0001t0082 others(2): Show a0001c0001t0013 a0001c0001t0030 a0001c0001t0082 a0001c0001t0112 a0001c0001t0117	a0001c0001t0013g0177 a0001c0001t0030g0099 a0001c0001t0082g0002 others(2): Show a0001c0001t0013g0177 a0001c0001t0030g0099 a0001c0001t0082g0002 a0001c0001t0112g0001 a0001c0001t0117g0083	5	212	0.0236	-22	c.271 others(41): Show c.271-17622_271-17601delGTGTGTGTGTGTGTGTGTGTGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16063496	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01256.hp1 HG02683.hp1 others(3): Show HG00738.hp2 HG01256.hp1 HG02683.hp1 HG02809.hp2 HG03831.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 a0001c0002t0021 a0001c0002t0045	a0001c0001t0014g0025 a0001c0002t0001g0008 a0001c0002t0001g0090 others(3): Show a0001c0001t0014g0025 a0001c0002t0001g0008 a0001c0002t0001g0090 a0001c0002t0004g0013 a0001c0002t0021g0007 a0001c0002t0045g0214	6	218	0.0275	-22	c.110 others(41): Show c.1102-7617_1102-7596delTATATATATATATATATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16291229	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	218	0.0046	-22	c.445 others(41): Show c.445+27195_445+27216delTATATATATATATATATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230436943	CATATATG others(15): Show CATATATGTGTATACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp1 HG01168.hp2 others(1): Show HG01070.hp2 HG01109.hp1 HG01168.hp2 NA20129.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0005c0008 a0003c0004 a0005c0008	a0003c0004t0002 a0003c0004t0003 a0005c0008t0003 others(1): Show a0003c0004t0002 a0003c0004t0003 a0005c0008t0003 a0005c0008t0014	a0003c0004t0002g0133 a0003c0004t0003g0132 a0005c0008t0003g0002 others(1): Show a0003c0004t0002g0133 a0003c0004t0003g0132 a0005c0008t0003g0002 a0005c0008t0014g0003	4	290	0.0138	-22	c.108 others(39): Show c.108-5950_108-5929delTATATATGTGTATACACACACA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230460592	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA19081.hp1 HG04199.hp2 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0005 a0003c0004t0003 a0001c0001t0005 a0003c0004t0003	a0001c0001t0005g0211 a0003c0004t0003g0188 a0001c0001t0005g0211 a0003c0004t0003g0188	2	290	0.0069	-22	c.821 others(37): Show c.821-649_821-628delTTTTTTTTTTTTTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03654.hp2 NA18948.hp1 others(1): Show HG01884.hp2 HG03654.hp2 NA18948.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0027	a0001c0001t0002g0280 a0001c0001t0004g0271 a0001c0001t0015g0148 others(1): Show a0001c0001t0002g0280 a0001c0001t0004g0271 a0001c0001t0015g0148 a0001c0001t0027g0020	4	290	0.0138	-22	c.205 others(39): Show c.2053-614_2053-593delTTTTTTTTTTTTTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP110_chr2_230160186_230224984	230206595	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19056.hp2 NA18975.hp2 NA19056.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0006 a0005c0006t0001g0006	2	428	0.0047	-22	c.898 others(39): Show c.898+1374_898+1395delTATATATATATATATATATATA	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP140_chr2_230220736_230318215	230307978	TATATATA others(15): Show TATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03225.hp2 HG01884.hp2 HG03225.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0311 a0004c0003t0001g0321 a0004c0003t0001g0311 a0004c0003t0001g0321	2	370	0.0054	-22	c.205 others(41): Show c.2059-1944_2059-1923delTATATATATATACACACACACA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP1_chr12_53375176_53421446	53404172	AAAAAAAA others(15): Show AAAAAAAAAAAAGGAAAGAAGTC	A A	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0249 a0002c0004t0002g0249	1	326	0.0031	-22	c.167 others(41): Show c.1676-2412_1676-2391delAAAAAAAAAAAGGAAAGAAGTC	SP1	ENSG00000185591.10	transcript	ENST00000327443.9	protein_coding	3/5			chr12	TogoVar
SP4_chr7_21423083_21519822	21445988	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	426	0.0024	-22	c.167 others(43): Show c.1678+15166_1678+15187delTGTGTGTGTGTGTGTGTGTGTG	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
SP4_chr7_21423083_21519822	21475075	GCTTTGAA others(15): Show GCTTTGAAATAACCTCCCCCACC	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	426	0.0024	-22	c.167 others(41): Show c.1679-1999_1679-1978delGAAATAACCTCCCCCACCCTTT	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
SP5_chr2_170710337_170723078	170713920	GTTCCCCG others(15): Show GTTCCCCGCCCGCCTCTTCCTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01928.hp2 HG01934.hp1 others(7): Show HG01433.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0009 a0002c0001t0001 a0002c0001t0009	a0002c0001t0001g0001 a0002c0001t0009g0001 a0002c0001t0001g0001 a0002c0001t0009g0001	10	452	0.0221	-22	c.-15 others(33): Show c.-1592_-1571delTTCCCCGCCCGCCTCTTCCTCC	SP5	ENSG00000204335.4	transcript	ENST00000375281.4	protein_coding		1416		chr2	TogoVar
SP8_chr7_20777279_20791886	20790841	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG03688.hp2 NA18951.hp2 HG02735.hp2 HG03688.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0013g0015 a0001c0001t0001g0001 a0001c0001t0013g0015	3	416	0.0072	-22	c.-40 others(33): Show c.-4065_-4044delTTTTTTTTTTTTTTTTTTTTTT	SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding		3956		chr7	TogoVar
SP8_chr7_20777279_20791886	20790862	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 NA18960.hp2 NA18991.hp2 others(3): Show HG00558.hp1 NA18960.hp2 NA18991.hp2 NA18994.hp1 NA19054.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0022 a0001c0002t0002g0002 a0001c0002t0002g0022	6	416	0.0144	-22	c.-40 others(33): Show c.-4086_-4065delCTCTTTTTTTTTTTTTTTTTTT	SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding		3977		chr7	TogoVar
SPACA3_chr17_32986847_33002877	32991609	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03225.hp1 HG03704.hp1 others(1): Show HG02055.hp1 HG03225.hp1 HG03704.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 others(1): Show a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0211	4	470	0.0085	-22	c.-32 others(31): Show c.-329_-308delGTGTGTGTGTGTGTGTGTGCGC	SPACA3	ENSG00000141316.13	transcript	ENST00000269053.8	protein_coding		237		chr17	TogoVar
SPACA7_chr13_112371355_112439689	112383111	AAAAGAAA others(15): Show AAAAGAAAAGAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00642.hp1 others(34): Show HG00544.hp1 HG00609.hp1 HG00642.hp1 HG01258.hp2 HG01934.hp2 HG01952.hp2 HG02015.hp2 HG02040.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02735.hp2 HG02886.hp2 HG03239.hp2 HG03471.hp2 HG03704.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18971.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18993.hp2 NA18997.hp2 NA19000.hp1 NA19007.hp1 NA19065.hp1 NA19074.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001	a0001c0001t0001g0145 a0001c0001t0001g0348 a0001c0001t0001g0352 others(34): Show a0001c0001t0001g0145 a0001c0001t0001g0348 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0003t0001g0283 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0265 a0002c0002t0002g0078 a0002c0006t0001g0366	37	391	0.0946	-22	c.94+ others(37): Show c.94+6640_94+6661delAGAAAAGAAAGAAAGAAAGAAA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG16_chr2_213279464_214415501	213643346	TTTTATAT others(15): Show TTTTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02293.hp1 HG02895.hp1 others(2): Show HG01256.hp2 HG02293.hp1 HG02895.hp1 HG03471.hp1 NA20300.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0010 a0001c0001 a0002c0002 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0008c0010t0001	a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0002g0006 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0002g0006 a0002c0002t0001g0003 a0008c0010t0001g0004	5	86	0.0581	-22	c.107 others(45): Show c.1070+153258_1070+153279delTTATATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213643348	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp2 HG03453.hp2 HG02976.hp2 HG03098.hp2 HG03453.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0007c0011t0001 a0001c0001t0001 a0007c0011t0001	a0001c0001t0001g0039 a0001c0001t0001g0071 a0007c0011t0001g0086 a0001c0001t0001g0039 a0001c0001t0001g0071 a0007c0011t0001g0086	3	86	0.0349	-22	c.107 others(45): Show c.1070+153300_1070+153321delATATATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213705890	CCCATATG others(15): Show CCCATATGGGATTTATGCAAATT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0019 a0003c0003t0003g0019	1	86	0.0116	-22	c.107 others(45): Show c.1071-156589_1071-156568delTGGGATTTATGCAAATTCCATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213728876	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp2 HG03579.hp1 HG02717.hp2 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0035	3	86	0.0349	-22	c.107 others(45): Show c.1071-133585_1071-133564delAAAAAAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213871869	CACACACA others(15): Show CACACACACACAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01361.hp1 HG01496.hp1 others(16): Show HG00673.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG02293.hp2 HG02615.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03831.hp1 NA18968.hp1 NA18977.hp1 NA18992.hp1 NA19000.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0009	a0001c0001 a0003c0003 a0005c0005 others(2): Show a0001c0001 a0003c0003 a0005c0005 a0007c0011 a0009c0009	a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 others(3): Show a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 a0005c0005t0001 a0007c0011t0001 a0009c0009t0001	a0001c0001t0002g0067 a0003c0003t0001g0026 a0003c0003t0001g0029 others(16): Show a0001c0001t0002g0067 a0003c0003t0001g0026 a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0038 a0003c0003t0001g0041 a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0050 a0003c0003t0001g0055 a0003c0003t0001g0062 a0003c0003t0001g0080 a0003c0003t0002g0042 a0005c0005t0001g0081 a0007c0011t0001g0086 a0009c0009t0001g0085	19	86	0.2209	-22	c.121 others(41): Show c.1214+9243_1214+9264delCACACACACAGAGAGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213913573	ATATATGT others(15): Show ATATATGTACATGTACATATATG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	86	0.0116	-22	c.121 others(43): Show c.1215-16309_1215-16288delGTACATATATGTATATGTACAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213932147	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01361.hp1 HG01496.hp1 others(17): Show HG00673.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG02109.hp1 HG02293.hp2 HG02717.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03490.hp2 HG03831.hp1 NA18968.hp1 NA18977.hp1 NA18992.hp1 NA18993.hp1 NA19000.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2	a0003 a0007 a0009 a0003 a0007 a0009	a0003c0003 a0007c0011 a0009c0009 a0003c0003 a0007c0011 a0009c0009	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0007c0011t0001 a0009c0009t0001	a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 others(17): Show a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0038 a0003c0003t0001g0041 a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0050 a0003c0003t0001g0055 a0003c0003t0001g0060 a0003c0003t0001g0062 a0003c0003t0001g0080 a0003c0003t0002g0042 a0003c0003t0003g0019 a0007c0011t0001g0086 a0009c0009t0001g0085	20	86	0.2326	-22	c.140 others(41): Show c.1400+2033_1400+2054delATATATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214037864	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0019 a0003c0003t0003g0019	1	86	0.0116	-22	c.152 others(43): Show c.1527+23816_1527+23837delGTGTGTGTGTGTGTGTGTGTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214126033	TCCTTCCT others(15): Show TCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp2 HG02109.hp2 HG02886.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0001 a0001c0001t0002 a0005c0005t0001	a0001c0001t0002g0044 a0005c0005t0001g0081 a0001c0001t0002g0044 a0005c0005t0001g0081	2	86	0.0233	-22	c.159 others(43): Show c.1593+17773_1593+17794delCCTTCCTTCCTTCCTTCCTTCC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	214126039	CTTCCTTC others(15): Show CTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp2 HG03453.hp2 others(1): Show HG02559.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0071 a0001c0001t0002g0006 a0001c0001t0002g0008 others(1): Show a0001c0001t0001g0071 a0001c0001t0002g0006 a0001c0001t0002g0008 a0002c0002t0001g0011	4	86	0.0465	-22	c.159 others(43): Show c.1593+17781_1593+17802delCCTTCCTTCCTTCCTTCCTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214261107	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02293.hp1 HG03471.hp2 HG01256.hp1 HG02293.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0033 a0002c0002t0001g0003 a0002c0002t0001g0076 a0001c0001t0001g0033 a0002c0002t0001g0003 a0002c0002t0001g0076	3	86	0.0349	-22	c.172 others(45): Show c.1720+111866_1720+111887delAAAAAAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100206017	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02735.hp1 NA18988.hp1 others(1): Show HG02630.hp1 HG02735.hp1 NA18988.hp1 NA19001.hp1	a0002 a0014 a0002 a0014	a0002c0005 a0014c0024 a0002c0005 a0014c0024	a0002c0005t0002 a0014c0024t0002 a0002c0005t0002 a0014c0024t0002	a0002c0005t0002g0230 a0002c0005t0002g0232 a0002c0005t0002g0253 others(1): Show a0002c0005t0002g0230 a0002c0005t0002g0232 a0002c0005t0002g0253 a0014c0024t0002g0131	4	366	0.0109	-22	c.109 others(41): Show c.1097-7056_1097-7035delAAAAAAAAAAAAAAAAAAAAAA	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG1_chr8_100153587_100246904	100214988	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02129.hp2 NA19091.hp1 HG00733.hp2 HG02129.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0003 a0002c0001t0001 a0002c0001t0002 a0001c0003t0003 a0002c0001t0001 a0002c0001t0002	a0001c0003t0003g0102 a0002c0001t0001g0340 a0002c0001t0002g0341 a0001c0003t0003g0102 a0002c0001t0001g0340 a0002c0001t0002g0341	3	366	0.0082	-22	c.153 others(41): Show c.1535+1111_1535+1132delATATATATATATATATATATAT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr8	TogoVar

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