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
SNX10_chr7_26286862_26379383	26325306	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	390	0.0026	35	c.-23 others(54): Show c.-23-21114_-23-21113insTATATATATATATATATATATATATA TATATATAT	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/6			chr7	TogoVar
SNX10_chr7_26286862_26379383	26325328	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02922.hp1 HG02080.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0321 a0001c0001t0001g0288 a0001c0001t0001g0321	2	390	0.0051	35	c.-23 others(54): Show c.-23-21092_-23-21091insATATATATATATATATATATATATAT ATATATATA	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/6			chr7	TogoVar
SNX10_chr7_26286862_26379383	26358805	G G	GTTTTTGT others(28): Show GTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	390	0.0026	35	c.25- others(50): Show c.25-2165_25-2164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNX13_chr7_17785761_17945494	17825257	A A	AACTAGAC others(28): Show AACTAGACTAGACTAGACTAGACTAGACTAGACTAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0334 a0001c0002t0002g0334	1	338	0.0030	35	c.170 others(52): Show c.1705+730_1705+764dupCTAGTCTAGTCTAGTCTAGTCTAGTCTA GTCTAGT	SNX13	ENSG00000071189.21	transcript	ENST00000428135.7	protein_coding	17/25			chr7	TogoVar
SNX14_chr6_85500496_85598858	85539935	T T	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG02040.hp1 others(4): Show HG01516.hp1 HG01517.hp2 HG02040.hp1 NA18940.hp2 NA18956.hp2 NA18970.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0127 a0001c0001t0001g0132 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0172 a0001c0001t0001g0173	7	360	0.0194	35	c.144 others(54): Show c.1449-1106_1449-1072dupTAAAATAAAATAAAATAAAATAAAAT AAAATAAAA	SNX14	ENSG00000135317.14	transcript	ENST00000314673.8	protein_coding	15/28			chr6	TogoVar
SNX27_chr1_151607050_151704080	151681235	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0217 a0001c0001t0009g0217	1	366	0.0027	35	c.115 others(54): Show c.1150-2097_1150-2096insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12381090	A A	ACCACCCA others(28): Show ACCACCCACCCACCCACCCACCCACCCACCATCCAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0010 a0003c0008t0010	a0003c0008t0010g0145 a0003c0008t0010g0145	1	176	0.0057	35	c.190 others(56): Show c.1900-17353_1900-17352insCCCACCCACCCACCCACCCACCCA CCATCCATCCA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12381090	A A	ACCCACCA others(28): Show ACCCACCACCCACCCACCCACCCACCCACCATCCAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG00673.hp2 others(18): Show HG00558.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01981.hp2 HG02015.hp2 HG02630.hp2 HG02896.hp2 HG02965.hp2 HG03130.hp1 HG03486.hp1 HG03704.hp1 HG06807.hp1 NA18906.hp1 NA18942.hp2 NA18950.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0024 a0002c0005 a0007c0016	a0001c0001t0002 a0001c0001t0008 a0001c0001t0050 others(17): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0050 a0001c0001t0055 a0001c0002t0024 a0001c0002t0081 a0001c0002t0086 a0001c0002t0088 a0001c0002t0089 a0001c0003t0002 a0001c0003t0011 a0001c0003t0016 a0001c0003t0025 a0001c0003t0029 a0001c0004t0005 a0001c0004t0074 a0001c0004t0079 a0001c0024t0038 a0002c0005t0045 a0007c0016t0108	a0001c0001t0002g0065 a0001c0001t0008g0137 a0001c0001t0050g0140 others(18): Show a0001c0001t0002g0065 a0001c0001t0008g0137 a0001c0001t0050g0140 a0001c0001t0055g0121 a0001c0002t0024g0128 a0001c0002t0081g0021 a0001c0002t0086g0066 a0001c0002t0088g0018 a0001c0002t0089g0072 a0001c0003t0002g0077 a0001c0003t0002g0097 a0001c0003t0011g0098 a0001c0003t0016g0005 a0001c0003t0025g0083 a0001c0003t0029g0053 a0001c0004t0005g0171 a0001c0004t0074g0159 a0001c0004t0079g0070 a0001c0024t0038g0148 a0002c0005t0045g0088 a0007c0016t0108g0049	21	176	0.1193	35	c.190 others(56): Show c.1900-17354_1900-17353insCACCACCCACCCACCCACCCACCC ACCATCCATCC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12476383	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	176	0.0057	35	c.203 others(54): Show c.2038-1336_2038-1335insTATATATATATATATATATATATATA CATATATAT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20			chr16	TogoVar
SNX2_chr5_122770080_122839543	122772950	T T	TAAAAAAA others(28): Show TAAAAAAAAATAAAAATAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	372	0.0027	35	c.-21 others(46): Show c.-2154_-2153insAAAAAAAAATAAAAATAAAAAAAAAAAAAAAAAA A	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding		2129		chr5	TogoVar
SNX4_chr3_125441650_125525202	125519948	G G	GGCCCGGC others(28): Show GGCCCGGCCCAGCCCAGCCCAGCCCAGCCCAGCCCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0356 a0001c0001t0002g0357	2	360	0.0056	35	c.141 others(48): Show c.141+83_141+84insTGGGCTGGGCTGGGCTGGGCTGGGCTGGGCCG GGC	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	1/13			chr3	TogoVar
SNX4_chr3_125441650_125525202	125519948	G G	GGCCCGGC others(28): Show GGCCCGGCCCAGCTCAGCCCAGCCCAGCCCAGCCCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01099.hp2 others(16): Show HG00544.hp2 HG00621.hp2 HG01099.hp2 HG01192.hp2 HG01433.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02602.hp2 HG02698.hp2 HG02738.hp2 NA18942.hp1 NA18955.hp2 NA18957.hp2 NA19060.hp2 NA19078.hp1 NA19084.hp2 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0336 a0001c0001t0001g0337 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352	19	360	0.0528	35	c.141 others(48): Show c.141+83_141+84insTGGGCTGGGCTGGGCTGGGCTGAGCTGGGCCG GGC	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	1/13			chr3	TogoVar
SNX7_chr1_98656721_98765500	98763441	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	378	0.0027	35	c.33 others(46): Show c.3310_*3311insTATATATATATATATATATATATATATATATATA T	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2942		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01074.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0072 a0001c0001t0001g0089	2	378	0.0053	35	c.33 others(46): Show c.3312_*3313insTATATATATATATATATATATATATATATATATA T	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(28): Show GTTTTTTTGTTTTTTTGTTTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0041	1	302	0.0033	35	c.12+ others(52): Show c.12+21148_12+21149insGTTTTTTTGTTTTTTTGTTTTTTTTTTT TTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(28): Show GTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18963.hp2 NA18999.hp1 HG02083.hp2 NA18963.hp2 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0055 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0055	3	302	0.0099	35	c.12+ others(52): Show c.12+21148_12+21149insGTTTTTTTGTTTTTTTTTTTTTTTTTTT TTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(28): Show GTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	302	0.0033	35	c.12+ others(52): Show c.12+21148_12+21149insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	302	0.0033	35	c.949 others(52): Show c.949+5616_949+5617insAAAAAAAAAAAAAAAAATATATATATAT ATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG01358.hp1 others(3): Show HG00408.hp2 HG00642.hp1 HG01358.hp1 HG02056.hp1 NA18977.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0019 others(3): Show a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0027 a0002c0002t0002g0029	6	302	0.0199	35	c.949 others(52): Show c.949+5616_949+5617insAAAAAAAAAAAAAAATATATATATATAT ATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03688.hp1 NA19063.hp1 others(2): Show HG03654.hp1 HG03688.hp1 NA19063.hp1 NA19083.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0010 others(2): Show a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0018 a0002c0002t0002g0034	5	302	0.0166	35	c.949 others(52): Show c.949+5616_949+5617insAAAAAAAAAAAAATATATATATATATAT ATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02965.hp1 HG02083.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0002 a0001c0003t0003 a0002c0002t0002	a0001c0003t0003g0258 a0002c0002t0002g0055 a0001c0003t0003g0258 a0002c0002t0002g0055	2	302	0.0066	35	c.949 others(52): Show c.949+5616_949+5617insAAAAAAAAAAATATATATATATATATAT ATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS3_chr17_78351778_78365077	78364744	C C	CGGGTGTC others(28): Show CGGGTGTCTGGAGCCCCCTCCTGTGCCCTGTGTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	468	0.0021	35	c.-50 others(46): Show c.-5084_-5083insAGAACACAGGGCACAGGAGGGGGCTCCAGACACC C	SOCS3	ENSG00000184557.4	transcript	ENST00000330871.3	protein_coding		4668		chr17	TogoVar
SOHLH2_chr13_36163217_36219556	36184460	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02976.hp1 NA19043.hp1 HG01106.hp2 HG02976.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0034 a0001c0004t0002g0250 a0001c0004t0002g0034 a0001c0004t0002g0250	3	420	0.0071	35	c.641 others(52): Show c.641+5485_641+5486insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0061	a0001c0002t0061g0121 a0001c0002t0061g0121	1	168	0.0060	35	c.481 others(54): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATATTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0051 a0001c0009t0051	a0001c0009t0051g0042 a0001c0009t0051g0042	1	168	0.0060	35	c.481 others(54): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA19240.hp1 HG02148.hp1 NA19240.hp1	a0001 a0015 a0001 a0015	a0001c0014 a0015c0023 a0001c0014 a0015c0023	a0001c0014t0019 a0015c0023t0008 a0001c0014t0019 a0015c0023t0008	a0001c0014t0019g0139 a0015c0023t0008g0122 a0001c0014t0019g0139 a0015c0023t0008g0122	2	168	0.0119	35	c.481 others(54): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0057 a0002c0004t0024g0057	1	168	0.0060	35	c.481 others(54): Show c.481-22809_481-22808insATATATATATATATATATATATATAT TTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104696573	A A	ATAATATA others(28): Show ATAATATATATTATATATATTATATACGTATATATT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02622.hp1 HG03098.hp1 others(2): Show HG01433.hp1 HG02622.hp1 HG03098.hp1 HG06807.hp2 NA19004.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0015 others(1): Show a0001c0001 a0001c0002 a0001c0015 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0015t0002 a0011c0017t0003	a0001c0001t0001g0122 a0001c0001t0002g0123 a0001c0002t0003g0128 others(2): Show a0001c0001t0001g0122 a0001c0001t0002g0123 a0001c0002t0003g0128 a0001c0015t0002g0130 a0011c0017t0003g0088	5	134	0.0373	35	c.627 others(54): Show c.627+54619_627+54620insTAATATATATTATATATATTATATAC GTATATATT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26			chr10	TogoVar
SORCS3_chr10_104636290_105270242	105016155	A A	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0038 a0001c0001t0004g0039	2	134	0.0149	35	c.955 others(54): Show c.955-26899_955-26898insATATATATATATATATATTTTTTTTT TTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105064687	T T	TTGGGGAA others(28): Show TTGGGGAAGGGAGGGAGATAGCTGCAGAGAAGGAGG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp1 HG01071.hp1 HG01167.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0012c0014 a0001c0002 a0012c0014	a0001c0002t0008 a0012c0014t0001 a0001c0002t0008 a0012c0014t0001	a0001c0002t0008g0013 a0012c0014t0001g0015 a0001c0002t0008g0013 a0012c0014t0001g0015	2	134	0.0149	35	c.102 others(56): Show c.1028+21561_1028+21595dupGGGGAAGGGAGGGAGATAGCTGCA GAGAAGGAGGT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOX5_chr12_23524504_23954670	23530819	G G	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0052 a0001c0001t0077g0052	1	212	0.0047	35	c.33 others(46): Show c.3399_*3400insGCGCGCGCGCGCACACACACACACACACACACAC A	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3399		chr12	TogoVar
SOX5_chr12_23524504_23954670	23603445	A A	AATATATA others(28): Show AATATATATATATATATATATATATAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01934.hp2 others(1): Show HG00639.hp2 HG01074.hp1 HG01934.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0063 a0001c0001t0010 a0001c0001t0063	a0001c0001t0010g0003 a0001c0001t0010g0038 a0001c0001t0010g0184 others(1): Show a0001c0001t0010g0003 a0001c0001t0010g0038 a0001c0001t0010g0184 a0001c0001t0063g0140	4	212	0.0189	35	c.116 others(52): Show c.1164+941_1164+942insATATATATTTTATATATATATATATATA TATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SP100_chr2_230411201_230550606	230497488	G G	GGAGGAGA others(28): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0278 a0004c0006t0004g0278	1	290	0.0035	35	c.164 others(52): Show c.1646-947_1646-913dupGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497539	G G	GAGGAAAG others(28): Show GAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0184 a0001c0003t0003g0184	1	290	0.0035	35	c.164 others(52): Show c.1646-918_1646-917insAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497544	G G	GAGGAAAG others(28): Show GAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03942.hp1 HG02129.hp2 HG03942.hp1	a0004 a0004	a0004c0006 a0004c0015 a0004c0006 a0004c0015	a0004c0006t0004 a0004c0015t0004 a0004c0006t0004 a0004c0015t0004	a0004c0006t0004g0283 a0004c0015t0004g0153 a0004c0006t0004g0283 a0004c0015t0004g0153	2	290	0.0069	35	c.164 others(52): Show c.1646-877_1646-843dupAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0110 a0001c0001t0006g0110	1	356	0.0028	35	c.163 others(56): Show c.1639+15108_1639+15109insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SPA17_chr11_124668904_124702518	124702108	G G	GCCACCTC others(28): Show GCCACCTCCCCCGGGCTGCCCCAATAAAAACAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0065 a0001c0001t0012g0065	1	356	0.0028	35	c.76 others(46): Show c.7662_*7663insCCACCTCCCCCGGGCTGCCCCAATAAAAACAAGA A	SPA17	ENSG00000064199.7	transcript	ENST00000227135.7	protein_coding		4591		chr11	TogoVar
SPAG16_chr2_213279464_214415501	213419058	A A	ATTCTCTA others(28): Show ATTCTCTACTCAGAAACCTGAAACATCGGCATTATC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02015.hp1 HG02922.hp1 others(4): Show HG01891.hp2 HG02015.hp1 HG02922.hp1 HG02976.hp2 HG03239.hp1 HG03490.hp1 NA19087.hp1	a0001 a0007 a0009 others(2): Show a0001 a0007 a0009 a0010 a0011	a0001c0001 a0007c0011 a0009c0009 others(2): Show a0001c0001 a0007c0011 a0009c0009 a0010c0007 a0011c0008	a0001c0001t0001 a0007c0011t0001 a0009c0009t0001 others(2): Show a0001c0001t0001 a0007c0011t0001 a0009c0009t0001 a0010c0007t0001 a0011c0008t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0007c0011t0001g0086 a0009c0009t0001g0085 a0010c0007t0001g0083 a0011c0008t0001g0084	7	86	0.0814	35	c.942 others(54): Show c.942+43939_942+43940insTTCTCTACTCAGAAACCTGAAACATC GGCATTATC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213833465	T T	TTATAATA others(28): Show TTATAATATATATAATATATTATATATATTATAATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp2 HG01361.hp2 others(3): Show HG00735.hp2 HG01256.hp2 HG01361.hp2 HG03490.hp1 HG03831.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069	6	86	0.0698	35	c.107 others(56): Show c.1071-29016_1071-29015insATATATATAATATATTATATATAT TATAATATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0073 a0003c0004t0001g0073	1	366	0.0027	35	c.300 others(52): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	35	c.-58 others(44): Show c.-580_-579insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	330	0.0030	35	c.-18 others(46): Show c.-1805_-1804insATATATATATATATATATATTTTTTTTTTTTTTT T	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 NA18953.hp1 NA19082.hp1 HG02683.hp1 NA18953.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0076	3	330	0.0091	35	c.-18 others(46): Show c.-1805_-1804insATATATATATATATATATATATATATATTTTTTT T	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	35	c.-18 others(46): Show c.-1805_-1804insATATATATATATATATATATATATATATATTTTT T	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	35	c.-18 others(46): Show c.-1805_-1804insATATATATATATATATATATATATATATATATTT T	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037665	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	292	0.0034	35	c.741 others(52): Show c.741+3835_741+3836insTATATATATATATATATATATATATATA TATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037691	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02071.hp2 HG04184.hp1 others(1): Show HG01515.hp1 HG02071.hp2 HG04184.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0222 a0001c0001t0001g0263 a0001c0001t0002g0201 others(1): Show a0001c0001t0001g0222 a0001c0001t0001g0263 a0001c0001t0002g0201 a0001c0001t0002g0217	4	292	0.0137	35	c.741 others(52): Show c.741+3809_741+3810insTATATATATATATATATATATATATATA TATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPATA13_chr13_24155720_24312069	24189683	T T	TATATATA others(28): Show TATATATATAATATATAATATATTATATATAAAAGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01109.hp1 others(28): Show HG00735.hp1 HG01074.hp1 HG01109.hp1 HG01891.hp2 HG02015.hp1 HG02155.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG06807.hp1 NA18951.hp1 NA18956.hp1 NA18956.hp2 NA19070.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp1	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0019 a0021 a0022	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013 a0002c0007 a0002c0008 a0002c0026 a0009c0045 a0019c0035 a0021c0034 a0022c0049	a0001c0001t0003 a0001c0001t0022 a0001c0001t0028 others(27): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0028 a0001c0002t0008 a0001c0002t0012 a0001c0002t0021 a0001c0002t0033 a0001c0002t0043 a0001c0002t0052 a0001c0002t0075 a0001c0002t0085 a0001c0003t0006 a0001c0003t0017 a0001c0004t0007 a0001c0004t0009 a0001c0004t0033 a0001c0005t0044 a0001c0005t0107 a0001c0013t0128 a0002c0007t0012 a0002c0008t0025 a0002c0008t0058 a0002c0008t0059 a0002c0008t0103 a0002c0008t0109 a0002c0026t0098 a0009c0045t0092 a0019c0035t0096 a0021c0034t0040 a0022c0049t0016	a0001c0001t0003g0024 a0001c0001t0022g0257 a0001c0001t0028g0011 others(28): Show a0001c0001t0003g0024 a0001c0001t0022g0257 a0001c0001t0028g0011 a0001c0002t0008g0142 a0001c0002t0012g0221 a0001c0002t0021g0356 a0001c0002t0033g0222 a0001c0002t0043g0193 a0001c0002t0052g0012 a0001c0002t0052g0013 a0001c0002t0075g0191 a0001c0002t0085g0020 a0001c0003t0006g0267 a0001c0003t0017g0344 a0001c0004t0007g0171 a0001c0004t0009g0268 a0001c0004t0033g0314 a0001c0005t0044g0014 a0001c0005t0107g0015 a0001c0013t0128g0120 a0002c0007t0012g0023 a0002c0008t0025g0178 a0002c0008t0058g0050 a0002c0008t0059g0199 a0002c0008t0103g0054 a0002c0008t0109g0031 a0002c0026t0098g0035 a0009c0045t0092g0071 a0019c0035t0096g0203 a0021c0034t0040g0342 a0022c0049t0016g0051	31	356	0.0871	35	c.-11 others(56): Show c.-112+28758_-112+28759insTAATATATAATATATTATATATAA AAGCATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(28): Show TATAATGATATATAATATATATTATATAACATGATG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18986.hp2 NA18962.hp2 NA18986.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0051 a0001c0001 a0013c0051	a0001c0001t0006 a0013c0051t0018 a0001c0001t0006 a0013c0051t0018	a0001c0001t0006g0313 a0013c0051t0018g0311 a0001c0001t0006g0313 a0013c0051t0018g0311	2	356	0.0056	35	c.-11 others(56): Show c.-112+29225_-112+29226insATGATATATAATATATATTATATA ACATGATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	300	0.0033	35	c.39+ others(50): Show c.39+6751_39+6752insAAAAAAAAAAAAAAATATATATATATATAT ATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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