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
SPEF2_chr5_35612863_35819611	35757049	T T	TACTATTA others(18): Show TACTATTAAAAATATTGTTTTTAATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(76): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01884.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG03098.hp1 HG03239.hp1 HG03471.hp1 HG03492.hp2 HG03579.hp1 HG03710.hp1 HG04199.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp2 NA18984.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0009 a0015 a0041 a0042	a0001c0002 a0001c0003 a0002c0001 others(8): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0004c0005 a0004c0012 a0006c0007 a0009c0013 a0015c0023 a0041c0031 a0042c0025	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(8): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0003c0004t0001 a0004c0005t0001 a0004c0012t0001 a0006c0007t0001 a0009c0013t0001 a0015c0023t0001 a0041c0031t0001 a0042c0025t0001	a0001c0002t0001g0022 a0001c0002t0001g0044 a0001c0003t0001g0003 others(76): Show a0001c0002t0001g0022 a0001c0002t0001g0044 a0001c0003t0001g0003 a0001c0003t0001g0024 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0080 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0157 a0001c0003t0001g0160 a0001c0003t0001g0177 a0001c0003t0001g0245 a0001c0003t0001g0264 a0002c0001t0001g0184 a0002c0001t0001g0193 a0002c0001t0001g0202 a0002c0001t0001g0207 a0002c0001t0001g0213 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0231 a0002c0001t0001g0235 a0002c0001t0001g0240 a0002c0001t0001g0247 a0002c0001t0001g0251 a0002c0001t0001g0255 a0002c0001t0001g0258 a0003c0004t0001g0128 a0003c0004t0001g0201 a0004c0005t0001g0101 a0004c0005t0001g0111 a0004c0005t0001g0112 a0004c0005t0001g0113 a0004c0005t0001g0114 a0004c0005t0001g0115 a0004c0005t0001g0116 a0004c0005t0001g0117 a0004c0005t0001g0118 a0004c0005t0001g0119 a0004c0005t0001g0120 a0004c0005t0001g0123 a0004c0005t0001g0125 a0004c0005t0001g0131 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0189 a0004c0005t0001g0205 a0004c0005t0001g0206 a0004c0005t0001g0216 a0004c0005t0001g0221 a0004c0005t0001g0224 a0004c0005t0001g0248 a0004c0012t0001g0145 a0004c0012t0001g0237 a0006c0007t0001g0181 a0006c0007t0001g0182 a0006c0007t0001g0183 a0006c0007t0001g0186 a0006c0007t0001g0187 a0006c0007t0001g0188 a0009c0013t0001g0133 a0015c0023t0001g0254 a0041c0031t0001g0083 a0042c0025t0001g0033	79	268	0.2948	25	c.346 others(44): Show c.3469-2499_3469-2475dupTTAATAACTATTAAAAATATTGTTT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEN_chr1_15842707_15945456	15904452	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	304	0.0033	25	c.882 others(42): Show c.882-4868_882-4844dupAAAAAAAAAAAAAAAAAAAAAAAAA	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPHK1_chr17_76379609_76392855	76388640	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	25	c.10 others(36): Show c.1054_*1055insTTTTTTTTTTTTTTTTTTTTTTTTT	SPHK1	ENSG00000176170.14	transcript	ENST00000592299.6	protein_coding		786		chr17	TogoVar
SPHK2_chr19_48614506_48635405	48616643	C C	CCAGCACA others(18): Show CCAGCACAGCACAGCACAGCACAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01433.hp1 HG02027.hp2 others(6): Show HG00408.hp2 HG01433.hp1 HG02027.hp2 HG02155.hp1 HG02896.hp2 NA18971.hp1 NA18971.hp2 NA19060.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0001t0001 a0001c0002t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0002t0001g0001 a0001c0008t0001g0001 a0001c0008t0001g0051	9	398	0.0226	25	c.-30 others(36): Show c.-3014_-3013insCAGCACAGCACAGCACAGCACAGCA	SPHK2	ENSG00000063176.16	transcript	ENST00000245222.9	protein_coding		2862		chr19	TogoVar
SPI1_chr11_47349860_47383547	47356329	A A	ATTCACAA others(18): Show ATTCACAACCCACTCACACACACCTG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	390	0.0026	25	c.494 others(40): Show c.494-808_494-784dupCAGGTGTGTGTGAGTGGGTTGTGAA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding	4/4			chr11	TogoVar
SPI1_chr11_47349860_47383547	47366822	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	390	0.0026	25	c.143 others(42): Show c.143-6807_143-6783dupCTTTTCTTTTCTTTTCTTTTCTTTT	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding	2/4			chr11	TogoVar
SPI1_chr11_47349860_47383547	47381507	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	390	0.0026	25	c.-31 others(36): Show c.-3155_-3154insATATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2961		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113480931	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03195.hp2 NA19006.hp1 HG00738.hp2 HG03195.hp2 NA19006.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0018 a0001c0001 a0001c0002 a0009c0018	a0001c0001t0002 a0001c0002t0003 a0009c0018t0003 a0001c0001t0002 a0001c0002t0003 a0009c0018t0003	a0001c0001t0002g0023 a0001c0002t0003g0268 a0009c0018t0003g0254 a0001c0001t0002g0023 a0001c0002t0003g0268 a0009c0018t0003g0254	3	364	0.0082	25	c.611 others(42): Show c.611+8013_611+8014insCTTTCTTTCTTTCTTTCTTTCTTTC	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIC_chr12_101470336_101491997	101479242	A A	AAGAAGGA others(18): Show AAGAAGGAAAGAAAGAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0267 a0002c0002t0001g0267	1	398	0.0025	25	c.98- others(38): Show c.98-339_98-338insGAAGGAAAGAAAGAAAGAAAAAAGA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47393673	T T	TTTTCCTT others(18): Show TTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	216	0.0046	25	c.526 others(42): Show c.526-2665_526-2641dupTCCTTTCCTTTCCTTTCCTTTCCTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47458323	G G	GTATTTTA others(18): Show GTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01358.hp2 HG01943.hp1 others(1): Show HG01109.hp2 HG01358.hp2 HG01943.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0040 others(1): Show a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0040 a0001c0001t0002g0072	4	216	0.0185	25	c.109 others(46): Show c.1097+17826_1097+17850dupTTATTTTATTTTATTTTATTTTAT T	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	216	0.0046	25	c.109 others(46): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT T	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18954.hp1 NA18998.hp1 others(1): Show HG01099.hp2 NA18954.hp1 NA18998.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0002g0034 others(1): Show a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0002g0034 a0001c0001t0002g0055	4	216	0.0185	25	c.109 others(46): Show c.1098-29818_1098-29817insATATATATATATATATATATATTT T	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	216	0.0046	25	c.109 others(46): Show c.1098-29818_1098-29817insATATATATATATATATATATTTTT T	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647654	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	216	0.0046	25	c.154 others(46): Show c.1545-26147_1545-26146insAGAGAGAGAGAGAGAGAGAGAGAG A	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19			chr8	TogoVar
SPIN1_chr9_88383444_88483694	88436089	G G	GTTTTCTA others(18): Show GTTTTCTAGCCCAGTTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03239.hp2 HG04228.hp2 HG02738.hp1 HG03239.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0174 a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0174 a0001c0001t0009g0175 a0001c0001t0009g0176	3	176	0.0171	25	c.52+ others(40): Show c.52+9500_52+9524dupTTTCTAGCCCAGTTTTGTTTGTTTT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK13_chr5_148263794_148291255	148267272	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	376	0.0027	25	c.-16 others(36): Show c.-1650_-1649insTTTTTTTTTTTTTTTTTTTTTTTTT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		1521		chr5	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18942.hp1 NA18999.hp1 others(2): Show HG02129.hp2 NA18942.hp1 NA18999.hp1 NA19083.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0206 a0001c0001t0002g0289 a0001c0001t0002g0291 others(2): Show a0001c0001t0001g0206 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0297	5	400	0.0125	25	c.391 others(40): Show c.391+298_391+322dupAAAAAAAAAAAAAAAAAAAAAAAAA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	328	0.0031	25	c.372 others(44): Show c.372+19716_372+19717insATATATATTTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0274 a0001c0001t0017g0274	1	328	0.0031	25	c.372 others(44): Show c.372+19716_372+19717insATATATATATATTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA18949.hp2 HG01069.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0304 a0001c0001t0010g0309 a0001c0001t0003g0304 a0001c0001t0010g0309	2	328	0.0061	25	c.372 others(44): Show c.372+19716_372+19717insATATATATATATATTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12658124	C C	CCGCCCCG others(18): Show CCGCCCCGCCCCGCCTCGCCCCGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	328	0.0031	25	c.-25 others(34): Show c.-259_-258insAGGCGGGGCGAGGCGGGGCGGGGCG	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding		18		chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869045	A A	ACATATAT others(18): Show ACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19074.hp1 HG02074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0034 a0002c0002t0002g0048 a0002c0002t0002g0034 a0002c0002t0002g0048	2	356	0.0056	25	c.180 others(42): Show c.1807-522_1807-521insCATATATATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869051	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0148 a0012c0017t0001g0148	1	356	0.0028	25	c.180 others(42): Show c.1807-516_1807-515insTATATATATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0186 a0004c0004t0001g0186	1	356	0.0028	25	c.180 others(42): Show c.1807-513_1807-512insAAAAAAAAAAATATATATATATATA	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(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	25	c.180 others(42): Show c.1807-513_1807-512insAAAAAAAAATATATATATATATATA	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(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	356	0.0028	25	c.180 others(42): Show c.1807-513_1807-512insAAAAAAATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	356	0.0028	25	c.180 others(42): Show c.1807-513_1807-512insATATATATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	356	0.0028	25	c.180 others(42): Show c.1807-514_1807-513insTATATATATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869072	A A	ATATATAT others(18): Show ATATATATATATATATGATATATATG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0019 a0001c0009t0001g0019	1	356	0.0028	25	c.180 others(42): Show c.1807-492_1807-491insATATATATATATGATATATATGTAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0071 a0001c0002t0004g0071	1	404	0.0025	25	c.-40 others(36): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458617	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18980.hp1 NA18943.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0217 a0001c0003t0001g0351 a0001c0001t0001g0217 a0001c0003t0001g0351	2	362	0.0055	25	c.111 others(44): Show c.1113+5415_1113+5439dupTCTTTCTTTCTTTCTTTCTTTCTTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458621	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02698.hp1 HG02698.hp2 others(5): Show HG01175.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG04115.hp2 NA19011.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0001c0007 a0001c0023 others(3): Show a0001c0006 a0001c0007 a0001c0023 a0003c0005 a0003c0008 a0003c0016	a0001c0006t0002 a0001c0007t0003 a0001c0023t0003 others(3): Show a0001c0006t0002 a0001c0007t0003 a0001c0023t0003 a0003c0005t0001 a0003c0008t0003 a0003c0016t0002	a0001c0006t0002g0011 a0001c0006t0002g0012 a0001c0007t0003g0319 others(5): Show a0001c0006t0002g0011 a0001c0006t0002g0012 a0001c0007t0003g0319 a0001c0023t0003g0053 a0003c0005t0001g0236 a0003c0005t0001g0311 a0003c0008t0003g0121 a0003c0016t0002g0082	8	362	0.0221	25	c.111 others(44): Show c.1113+5419_1113+5443dupTCTTTCTTTCTTTCTTTCTTTCTTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	260	0.0039	25	c.-12 others(36): Show c.-1200_-1199insAAAAAAATATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02080.hp1 HG00423.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0223 a0002c0002t0002g0237 a0002c0002t0002g0223 a0002c0002t0002g0237	2	260	0.0077	25	c.-12 others(36): Show c.-1200_-1199insAAAAAAAAAAATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 NA18961.hp1 NA18995.hp2 HG00408.hp2 NA18961.hp1 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0002g0238 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0002g0238	3	260	0.0115	25	c.-12 others(36): Show c.-1200_-1199insAAAAAAAAAAAAATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	260	0.0039	25	c.-12 others(36): Show c.-1200_-1199insAAAAAAAAAAAAAAAAATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(18): Show ATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0167 a0001c0015t0001g0167	1	260	0.0039	25	c.-12 others(36): Show c.-1200_-1199insAAAAAAAAAAAAAAAAAAATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK3_chr4_166728384_167239494	166797233	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02165.hp1 HG02071.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0121 a0001c0001t0002g0125	2	144	0.0139	25	c.590 others(42): Show c.590-4945_590-4944insAAAAAAAAAAAAAAAAAAAAAAAAA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166800183	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02451.hp1 others(3): Show HG01884.hp1 HG02257.hp2 HG02451.hp1 HG02615.hp1 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0014	a0001c0001t0001g0109 a0001c0001t0002g0135 a0001c0001t0003g0025 others(3): Show a0001c0001t0001g0109 a0001c0001t0002g0135 a0001c0001t0003g0025 a0001c0001t0003g0048 a0001c0001t0003g0076 a0001c0005t0014g0001	6	144	0.0417	25	c.590 others(42): Show c.590-7895_590-7894insTTTTTTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167046450	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0080 a0001c0003t0001g0080	1	144	0.0069	25	c.235 others(44): Show c.235+16017_235+16041dupAAAAAAAAAAAAAAAAAAAAAAAAA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	3/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167065037	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	144	0.0069	25	c.190 others(42): Show c.190-2501_190-2500insTTTTTTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON2_chr4_1161932_1177583	1172822	C C	CCGCACCC others(18): Show CCGCACCCCTTTCTTTGTCTGTCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0005 a0009c0019t0005	a0009c0019t0005g0059 a0009c0019t0005g0059	1	432	0.0023	25	c.-30 others(34): Show c.-307_-283dupACAGACAGACAAAGAAAGGGGTGCG	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		240		chr4	TogoVar
SPPL2A_chr15_50697266_50770706	50703356	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0251 a0001c0001t0139g0251	1	336	0.0030	25	c.44 others(36): Show c.4443_*4444insAAAAAAAAATATATATATATATATA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4443		chr15	TogoVar
SPPL3_chr12_120757510_120909358	120830580	G G	GGAAGAGA others(18): Show GGAAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	320	0.0031	25	c.24- others(42): Show c.24-19695_24-19694insTCTCTCTCTCTCTCTCTCTCTCTTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830606	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0302 a0001c0001t0003g0302	1	320	0.0031	25	c.24- others(42): Show c.24-19721_24-19720insCTCTCTCTCTCTCTCTCTCTCTCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120852698	T T	TATATATT others(18): Show TATATATTTCATATATTATATATATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01071.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0185 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0185	3	320	0.0094	25	c.24- others(42): Show c.24-41813_24-41812insCATATATATAATATATGAAATATAT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871130	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	320	0.0031	25	c.23+ others(42): Show c.23+32714_23+32715insTTTTTTTTTTTTTTTTTTTTTTTTT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED2_chr2_65305851_65437599	65322294	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0268 a0001c0001t0021g0268	1	276	0.0036	25	c.439 others(42): Show c.439-5412_439-5411insAAAAAAAAAAAAATATATATATATA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	4/5			chr2	TogoVar
SPRED3_chr19_38383697_38404587	38385765	A A	AGCCGGGG others(18): Show AGCCGGGGATGGGGCCGGGGCCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	360	0.0028	25	c.-30 others(36): Show c.-3047_-3046insGCCGGGGATGGGGCCGGGGCCCGGG	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding		2931		chr19	TogoVar

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