Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPDYE10_chr7_73099008_73160431	73156167	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	216	0.0046	18	c.-14 others(29): Show c.-1485_-1484insGAGAGAGAGAGAGAGAGA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		737		chr7	TogoVar
SPDYE17_chr7_77017306_77037361	77030080	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01070.hp1 others(7): Show HG00642.hp2 HG00738.hp1 HG01070.hp1 HG01192.hp1 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 NA19088.hp2 NA20300.hp2	a0002 a0007 a0013 a0002 a0007 a0013	a0002c0002 a0007c0009 a0013c0012 a0002c0002 a0007c0009 a0013c0012	a0002c0002t0002 a0007c0009t0002 a0013c0012t0002 a0002c0002t0002 a0007c0009t0002 a0013c0012t0002	a0002c0002t0002g0008 a0002c0002t0002g0070 a0002c0002t0002g0072 others(3): Show a0002c0002t0002g0008 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0073 a0007c0009t0002g0071 a0013c0012t0002g0074	10	295	0.0339	18	c.130 others(33): Show c.130+343_130+360dupAAAAAAAAAAAAAAAAAA	SPDYE17	ENSG00000186645.11	transcript	ENST00000671986.3	protein_coding	2/7			chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77064586	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA20805.hp2 HG02970.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0094 a0001c0001t0009g0107 a0001c0001t0007g0094 a0001c0001t0009g0107	2	416	0.0048	18	c.-25 others(29): Show c.-2513_-2512insGTGTGTGTGTGTGTGTGT	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding		2029		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994386	A A	AAAAGAAA others(11): Show AAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 NA20805.hp1 HG00738.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0065 a0001c0001t0005g0019 a0001c0001t0005g0065	2	394	0.0051	18	c.-39 others(29): Show c.-3996_-3995insAAAGAAAGAAAGAAAGAG	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3510		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994388	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01071.hp1 HG03041.hp2 others(3): Show HG00735.hp2 HG01071.hp1 HG03041.hp2 HG03831.hp2 NA18973.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0006 a0002c0002t0001g0002 a0002c0002t0001g0025 a0001c0001t0005g0006 a0002c0002t0001g0002 a0002c0002t0001g0025	6	394	0.0152	18	c.-39 others(29): Show c.-3994_-3993insAGAAAGAAAGAAAGAAAG	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3508		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994392	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01261.hp2 HG01981.hp1 others(4): Show HG01081.hp1 HG01261.hp2 HG01981.hp1 HG02004.hp1 HG02523.hp2 HG02698.hp2 NA19087.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0011 a0003c0003t0003 a0003c0003t0011	a0003c0003t0003g0005 a0003c0003t0003g0010 a0003c0003t0003g0028 others(3): Show a0003c0003t0003g0005 a0003c0003t0003g0010 a0003c0003t0003g0028 a0003c0003t0003g0053 a0003c0003t0003g0061 a0003c0003t0011g0010	7	394	0.0178	18	c.-39 others(29): Show c.-3990_-3989insAGAAAGAAAGAAAGAAAG	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3504		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43995839	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG03471.hp1 NA18946.hp1 HG02717.hp1 HG03471.hp1 NA18946.hp1	a0002 a0005 a0013 a0002 a0005 a0013	a0002c0002 a0005c0005 a0013c0024 a0002c0002 a0005c0005 a0013c0024	a0002c0002t0001 a0005c0005t0008 a0013c0024t0003 a0002c0002t0001 a0005c0005t0008 a0013c0024t0003	a0002c0002t0001g0164 a0005c0005t0008g0020 a0013c0024t0003g0030 a0002c0002t0001g0164 a0005c0005t0008g0020 a0013c0024t0003g0030	3	394	0.0076	18	c.-25 others(29): Show c.-2543_-2542insGTGTGTGTGTGTGTGTGT	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		2057		chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102648345	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01517.hp1 HG00733.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0063 a0002c0002t0002g0059 a0002c0002t0002g0063	2	128	0.0156	18	c.-24 others(29): Show c.-2454_-2453insGTGTGTGTGTGTGTGTGT	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		1973		chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102654324	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0005 a0014c0012t0005	a0014c0012t0005g0046 a0014c0012t0005g0046	1	128	0.0078	18	c.380 others(33): Show c.380-655_380-638dupAAAAAAAAAAAAAAAAAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GAAAAAGA others(11): Show GAAAAAGAAAGAAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	164	0.0061	18	c.-38 others(29): Show c.-3878_-3877insAAAAAGAAAGAAAGGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547845	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0014 a0004c0005t0014	a0004c0005t0014g0105 a0004c0005t0014g0105	1	164	0.0061	18	c.-38 others(29): Show c.-3865_-3864insAAAGAAAGAAAGAAAGAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3380		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102549251	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 NA19080.hp1 HG03491.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0003 a0001c0001t0019g0059 a0001c0001t0001g0003 a0001c0001t0019g0059	2	164	0.0122	18	c.-24 others(29): Show c.-2459_-2458insGTGTGTGTGTGTGTGTGT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		1974		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102551958	T T	TTTTTGGA others(11): Show TTTTTGGATGGTCTCTGAA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0136 a0004c0005t0007g0136	1	164	0.0061	18	c.-42 others(35): Show c.-422+672_-422+689dupTTTGGATGGTCTCTGAAT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE8_chr7_73014719_73034766	73027468	C C	CTTTTTTT others(11): Show CTTTTTTTTCTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01981.hp1 NA18952.hp2 HG00741.hp2 HG01981.hp1 NA18952.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0004 a0001c0001 a0012c0004	a0001c0001t0002 a0001c0001t0004 a0012c0004t0012 a0001c0001t0002 a0001c0001t0004 a0012c0004t0012	a0001c0001t0002g0093 a0001c0001t0004g0103 a0012c0004t0012g0015 a0001c0001t0002g0093 a0001c0001t0004g0103 a0012c0004t0012g0015	3	138	0.0217	18	c.130 others(33): Show c.130+368_130+369insAAAAAAGAAGAAAAAAAA	SPDYE8	ENSG00000273520.6	transcript	ENST00000333385.11	protein_coding	2/7			chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24288615	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	326	0.0031	18	c.-38 others(37): Show c.-38+11824_-38+11841dupTTTTTTTTTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24383792	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02132.hp1 NA20129.hp1 HG00438.hp2 HG02132.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0029 a0003c0005t0001 a0001c0001t0001 a0001c0001t0029 a0003c0005t0001	a0001c0001t0001g0209 a0001c0001t0029g0280 a0003c0005t0001g0287 a0001c0001t0001g0209 a0001c0001t0029g0280 a0003c0005t0001g0287	3	326	0.0092	18	c.308 others(39): Show c.3087+14495_3087+14512dupTTTTTTTTTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24390862	T T	TTTTTTTC others(11): Show TTTTTTTCTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0311 a0001c0001t0005g0311	1	326	0.0031	18	c.308 others(39): Show c.3088-20722_3088-20721insTTCTTTTTTTTTTCTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20189075	T T	TTCTCACT others(11): Show TTCTCACTTGCATCGAGCC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	250	0.0040	18	c.284 others(37): Show c.284-15255_284-15238dupTCACTTGCATCGAGCCTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	250	0.0040	18	c.259 others(37): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20254134	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03139.hp1 HG02132.hp1 HG03139.hp1	a0001 a0004 a0001 a0004	a0001c0008 a0004c0005 a0001c0008 a0004c0005	a0001c0008t0089 a0004c0005t0009 a0001c0008t0089 a0004c0005t0009	a0001c0008t0089g0140 a0004c0005t0009g0232 a0001c0008t0089g0140 a0004c0005t0009g0232	2	250	0.0080	18	c.268 others(35): Show c.2680+573_2680+590dupGTGTGTGTGTGTGTGTGT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20296878	C C	CTTATCAC others(11): Show CTTATCACAATTTTGTGCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0023 a0004c0005t0023	a0004c0005t0023g0234 a0004c0005t0023g0234	1	250	0.0040	18	c.294 others(33): Show c.2941-83_2941-82insTTATCACAATTTTGTGCA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	12/14			chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298946	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0049 a0001c0003t0049	a0001c0003t0049g0011 a0001c0003t0049g0011	1	250	0.0040	18	c.305 others(37): Show c.3057+1870_3057+1871insTGTGTGTGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0159 a0001c0001t0086g0159	1	250	0.0040	18	c.305 others(37): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0025 a0001c0001t0094 a0001c0001t0015 a0001c0001t0025 a0001c0001t0094	a0001c0001t0015g0143 a0001c0001t0025g0158 a0001c0001t0094g0171 a0001c0001t0015g0143 a0001c0001t0025g0158 a0001c0001t0094g0171	3	250	0.0120	18	c.305 others(37): Show c.3057+1872_3057+1873insAGAGAGAGAGAGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02004.hp1 HG03688.hp1 others(3): Show HG01358.hp2 HG02004.hp1 HG03688.hp1 NA18612.hp1 NA18944.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0014 a0004c0005 a0001c0001 a0001c0014 a0004c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0087 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0087 a0001c0014t0002 a0004c0005t0064	a0001c0001t0002g0132 a0001c0001t0002g0246 a0001c0001t0006g0120 others(3): Show a0001c0001t0002g0132 a0001c0001t0002g0246 a0001c0001t0006g0120 a0001c0001t0087g0134 a0001c0014t0002g0139 a0004c0005t0064g0222	6	250	0.0240	18	c.305 others(37): Show c.3057+1872_3057+1873insAGAGAGAGAGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(11): Show AGAGAGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 HG03834.hp2 HG02717.hp1 HG02970.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0097 a0001c0003t0032 a0001c0001t0002 a0001c0001t0097 a0001c0003t0032	a0001c0001t0002g0106 a0001c0001t0097g0149 a0001c0003t0032g0163 a0001c0001t0002g0106 a0001c0001t0097g0149 a0001c0003t0032g0163	3	250	0.0120	18	c.305 others(37): Show c.3057+1872_3057+1873insAGAGAGAGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(11): Show AGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0156 a0001c0003t0032g0156	1	250	0.0040	18	c.305 others(37): Show c.3057+1872_3057+1873insAGAGAGTGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGTG others(11): Show AGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02293.hp1 NA20805.hp1 HG01515.hp1 HG02293.hp1 NA20805.hp1	a0003 a0003	a0003c0004 a0003c0007 a0003c0004 a0003c0007	a0003c0004t0003 a0003c0007t0003 a0003c0004t0003 a0003c0007t0003	a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0007t0003g0088 a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0007t0003g0088	3	250	0.0120	18	c.305 others(37): Show c.3057+1872_3057+1873insAGAGTGTGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGTGTG others(11): Show AGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0086 a0003c0004t0003g0086	1	250	0.0040	18	c.305 others(37): Show c.3057+1872_3057+1873insAGTGTGTGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03540.hp1 HG03579.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0018 a0001c0003t0071 a0001c0003t0007 a0001c0003t0018 a0001c0003t0071	a0001c0003t0007g0212 a0001c0003t0018g0213 a0001c0003t0071g0054 a0001c0003t0007g0212 a0001c0003t0018g0213 a0001c0003t0071g0054	3	250	0.0120	18	c.305 others(37): Show c.3057+1878_3057+1895dupGTGTGTGTGTGTGTGTGT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317259	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01192.hp2 others(1): Show HG00741.hp2 HG01074.hp1 HG01192.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0095 a0001c0001t0013 a0001c0001t0095	a0001c0001t0013g0144 a0001c0001t0013g0152 a0001c0001t0013g0249 others(1): Show a0001c0001t0013g0144 a0001c0001t0013g0152 a0001c0001t0013g0249 a0001c0001t0095g0221	4	250	0.0160	18	c.31 others(29): Show c.3198_*3215dupTTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3216	INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35661254	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	268	0.0037	18	c.116 others(37): Show c.1167+2075_1167+2092dupATATATATATATATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35713869	T T	TTATGTAT others(11): Show TTATGTATTTTATATATAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0030 a0030	a0030c0027 a0030c0027	a0030c0027t0001 a0030c0027t0001	a0030c0027t0001g0192 a0030c0027t0001g0192	1	268	0.0037	18	c.291 others(35): Show c.2914+986_2914+987insGTATTTTATATATAGTAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751090	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03471.hp2 NA20129.hp2 HG02809.hp2 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197	3	268	0.0112	18	c.333 others(37): Show c.3331-2533_3331-2532insTATATATATATATATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751092	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01433.hp2 NA19065.hp2 HG01175.hp2 HG01433.hp2 NA19065.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0001 a0004c0005t0001 a0003c0004t0001 a0004c0005t0001	a0003c0004t0001g0102 a0003c0004t0001g0246 a0004c0005t0001g0065 a0003c0004t0001g0102 a0003c0004t0001g0246 a0004c0005t0001g0065	3	268	0.0112	18	c.333 others(37): Show c.3331-2531_3331-2530insTATATATATATATATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751094	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0128 a0003c0004t0001g0128	1	268	0.0037	18	c.333 others(37): Show c.3331-2529_3331-2528insTATATATATATATATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEN_chr1_15842707_15945456	15860378	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19043.hp1 HG03710.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0050 a0001c0004t0001g0085 a0001c0001t0001g0050 a0001c0004t0001g0085	2	304	0.0066	18	c.83+ others(35): Show c.83+12251_83+12268dupGTGTGTGTGTGTGTGTGT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPG11_chr15_44557696_44668662	44587707	A A	AAAAAAAC others(11): Show AAAAAAACAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp2 HG02258.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0023 a0002c0002t0002g0019 a0002c0002t0002g0023	2	190	0.0105	18	c.490 others(37): Show c.4906+1544_4906+1545insGTTTTTTTTTTGTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	28/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44631803	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0025 a0025	a0025c0029 a0025c0029	a0025c0029t0001 a0025c0029t0001	a0025c0029t0001g0157 a0025c0029t0001g0157	1	190	0.0053	18	c.173 others(37): Show c.1735+1684_1735+1701dupAAAAAAAAAAAAAAAAAA	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	8/39			chr15	TogoVar
SPHK2_chr19_48614506_48635405	48615668	A A	ATGCTCCC others(11): Show ATGCTCCCCAGGAGATGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02723.hp1 HG01891.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0106 a0001c0001t0001g0107	2	398	0.0050	18	c.-39 others(29): Show c.-3989_-3988insTGCTCCCCAGGAGATGCC	SPHK2	ENSG00000063176.16	transcript	ENST00000245222.9	protein_coding		3837		chr19	TogoVar
SPHKAP_chr2_227974955_228186687	228061736	T T	TATACACA others(11): Show TATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0008 a0014c0023t0008	a0014c0023t0008g0224 a0014c0023t0008g0224	1	322	0.0031	18	c.247 others(37): Show c.247-34194_247-34193insGTGTGTGTGTGTGTGTAT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	A A	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp1 NA19066.hp2 HG01069.hp2 HG01243.hp1 NA19066.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0005 a0006c0007 a0002c0002 a0003c0005 a0006c0007	a0002c0002t0001 a0003c0005t0007 a0006c0007t0010 a0002c0002t0001 a0003c0005t0007 a0006c0007t0010	a0002c0002t0001g0166 a0003c0005t0007g0174 a0006c0007t0010g0321 a0002c0002t0001g0166 a0003c0005t0007g0174 a0006c0007t0010g0321	3	322	0.0093	18	c.139 others(35): Show c.139-4682_139-4665dupGAGAGAGAGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228119454	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	322	0.0031	18	c.139 others(37): Show c.139-10516_139-10515insGTGTGTGTGTGTGTGTGT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228119456	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00738.hp1 others(39): Show HG00558.hp2 HG00609.hp1 HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01934.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02735.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18944.hp2 NA18959.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18981.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp2 NA18995.hp1 NA19000.hp1 NA19006.hp2 NA19012.hp1 NA19058.hp2 NA19064.hp2 NA19068.hp1 NA19074.hp2 NA19084.hp1 NA19090.hp1 NA19091.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0014 a0018	a0001c0001 a0002c0002 a0004c0003 others(4): Show a0001c0001 a0002c0002 a0004c0003 a0005c0004 a0006c0007 a0014c0023 a0018c0029	a0001c0001t0002 a0002c0002t0001 a0004c0003t0001 others(5): Show a0001c0001t0002 a0002c0002t0001 a0004c0003t0001 a0004c0003t0004 a0005c0004t0003 a0006c0007t0001 a0014c0023t0008 a0018c0029t0002	a0001c0001t0002g0035 a0001c0001t0002g0152 a0001c0001t0002g0155 others(39): Show a0001c0001t0002g0035 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0246 a0001c0001t0002g0255 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0002c0002t0001g0197 a0002c0002t0001g0209 a0002c0002t0001g0223 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0004c0003t0001g0132 a0004c0003t0001g0208 a0004c0003t0004g0311 a0004c0003t0004g0312 a0004c0003t0004g0313 a0004c0003t0004g0314 a0005c0004t0003g0130 a0005c0004t0003g0131 a0005c0004t0003g0194 a0005c0004t0003g0206 a0005c0004t0003g0237 a0006c0007t0001g0189 a0014c0023t0008g0224 a0018c0029t0002g0257	42	322	0.1304	18	c.139 others(37): Show c.139-10518_139-10517insGTGTGTGTGTGTGTGTGT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154510	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0072 a0005c0004t0003g0072	1	322	0.0031	18	c.33- others(35): Show c.33-22426_33-22425insTATATATATATATATATA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154532	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0179 a0005c0004t0003g0179	1	322	0.0031	18	c.33- others(35): Show c.33-22448_33-22447insAATATATATATATATATA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47380561	T T	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00597.hp2 others(20): Show HG00408.hp1 HG00558.hp2 HG00597.hp2 HG01167.hp2 HG01169.hp2 HG01515.hp1 HG01517.hp2 HG02027.hp2 HG02280.hp2 HG02572.hp2 HG03486.hp1 HG03710.hp2 NA18947.hp2 NA18964.hp1 NA18983.hp2 NA18986.hp2 NA18993.hp1 NA18999.hp2 NA19062.hp1 NA19066.hp1 NA19084.hp2 NA19091.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0013 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0159 a0001c0001t0003g0135	23	390	0.0590	18	c.-22 others(29): Show c.-2226_-2209dupCAACAACAACAACAACAA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2015		chr11	TogoVar
SPI1_chr11_47349860_47383547	47381487	T T	TTATATAT others(11): Show TTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp1 others(14): Show HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp2 HG01192.hp1 HG01496.hp2 HG02004.hp2 HG02818.hp1 HG02976.hp1 HG03486.hp2 HG03942.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0013 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0055 a0001c0001t0001g0123 a0001c0001t0001g0162 a0001c0001t0001g0243 a0001c0001t0001g0256 a0001c0001t0002g0056 a0001c0001t0002g0167 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0136	17	390	0.0436	18	c.-31 others(29): Show c.-3152_-3135dupTATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2941		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113486156	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18952.hp1 NA18970.hp1 NA18522.hp1 NA18952.hp1 NA18970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0021 a0002c0003t0005 a0002c0003t0021	a0002c0003t0005g0341 a0002c0003t0005g0342 a0002c0003t0021g0011 a0002c0003t0005g0341 a0002c0003t0005g0342 a0002c0003t0021g0011	3	364	0.0082	18	c.611 others(35): Show c.611+2788_611+2789insATATATATATATATATAT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPICE1_chr3_113437718_113520156	113486210	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19012.hp2 NA19067.hp1 NA18957.hp1 NA19012.hp2 NA19067.hp1	a0003 a0003	a0003c0005 a0003c0016 a0003c0005 a0003c0016	a0003c0005t0004 a0003c0016t0004 a0003c0005t0004 a0003c0016t0004	a0003c0005t0004g0175 a0003c0005t0004g0176 a0003c0016t0004g0177 a0003c0005t0004g0175 a0003c0005t0004g0176 a0003c0016t0004g0177	3	364	0.0082	18	c.611 others(35): Show c.611+2717_611+2734dupATATATATATATATATAT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar

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