Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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	GTCTGTCT others(13): Show GTCTGTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0153 a0002c0003t0002g0153	1	216	0.0046	20	c.-14 others(31): Show c.-1485_-1484insGAGAGAGAGAGAGAGACAGA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		737		chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTGTT others(13): Show TTTTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0112 a0002c0002t0002g0112	1	255	0.0039	20	c.380 others(35): Show c.380-266_380-265insCAACAACAACAACAACAAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE17_chr7_77017306_77037361	77025745	G G	GATAAATA others(13): Show GATAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0058 a0002c0002t0004g0058	1	295	0.0034	20	c.495 others(35): Show c.495-654_495-635dupTTATTTATTTATTTATTTAT	SPDYE17	ENSG00000186645.11	transcript	ENST00000671986.3	protein_coding	5/7			chr7	TogoVar
SPDYE17_chr7_77017306_77037361	77030080	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	295	0.0034	20	c.130 others(35): Show c.130+341_130+360dupAAAAAAAAAAAAAAAAAAAA	SPDYE17	ENSG00000186645.11	transcript	ENST00000671986.3	protein_coding	2/7			chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77064586	T T	TACACACA others(13): Show TACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01074.hp2 others(6): Show HG00099.hp1 HG00099.hp2 HG01074.hp2 HG01346.hp1 HG01517.hp1 HG03471.hp2 HG03834.hp2 NA18981.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 others(1): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0020	a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0091 others(5): Show a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0096 a0001c0001t0009g0105 a0001c0001t0014g0101 a0001c0001t0020g0095	9	416	0.0216	20	c.-25 others(31): Show c.-2513_-2512insGTGTGTGTGTGTGTGTGTGT	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding		2029		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(13): Show GAAAGAAAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA19057.hp1 NA18988.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	2	394	0.0051	20	c.-39 others(31): Show c.-3964_-3963insAAAGAAAGAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43995839	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02572.hp2 NA19082.hp2 HG01496.hp2 HG02572.hp2 NA19082.hp2	a0001 a0005 a0019 a0001 a0005 a0019	a0001c0001 a0005c0005 a0019c0022 a0001c0001 a0005c0005 a0019c0022	a0001c0001t0005 a0005c0005t0008 a0019c0022t0003 a0001c0001t0005 a0005c0005t0008 a0019c0022t0003	a0001c0001t0005g0069 a0005c0005t0008g0080 a0019c0022t0003g0028 a0001c0001t0005g0069 a0005c0005t0008g0080 a0019c0022t0003g0028	3	394	0.0076	20	c.-25 others(31): Show c.-2543_-2542insGTGTGTGTGTGTGTGTGTGT	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		2057		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	44008999	G G	GGTTGCCA others(13): Show GGTTGCCACAGTTACGGACTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0019 a0015c0014t0019	a0015c0014t0019g0161 a0015c0014t0019g0161	1	394	0.0025	20	c.38 others(29): Show c.389_*390insTACGGACTTGTTGCCACAGT	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding	9/9	1243	INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102646920	A A	AGAGAAAG others(13): Show AGAGAAAGGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01975.hp2 NA19091.hp2 HG01081.hp1 HG01975.hp2 NA19091.hp2	a0001 a0013 a0001 a0013	a0001c0005 a0013c0022 a0001c0005 a0013c0022	a0001c0005t0003 a0013c0022t0021 a0001c0005t0003 a0013c0022t0021	a0001c0005t0003g0007 a0001c0005t0003g0053 a0013c0022t0021g0068 a0001c0005t0003g0007 a0001c0005t0003g0053 a0013c0022t0021g0068	3	128	0.0234	20	c.-38 others(31): Show c.-3879_-3878insGAGAAAGGAAAGAAAGAAAG	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3398		chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102646923	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 NA18969.hp2 HG02698.hp2 NA18969.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0004 a0001c0001t0004 a0003c0003t0004	a0001c0001t0004g0099 a0003c0003t0004g0095 a0001c0001t0004g0099 a0003c0003t0004g0095	2	128	0.0156	20	c.-38 others(31): Show c.-3876_-3875insGAAAGAAAGAAAGAAAGAAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3395		chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102648345	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0071 a0001c0001t0010g0071	1	128	0.0078	20	c.-24 others(31): Show c.-2454_-2453insGTGTGTGTGTGTGTGTGTGT	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		1973		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547829	A A	AGAGAAAG others(13): Show AGAGAAAGGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0026 a0005c0004t0004g0026	1	164	0.0061	20	c.-38 others(31): Show c.-3881_-3880insGAGAAAGGAAAGAAAGAAAG	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3396		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG01123.hp1 others(26): Show HG00280.hp1 HG00673.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG02132.hp2 HG02602.hp2 HG02717.hp1 HG03041.hp2 HG03704.hp2 HG03942.hp1 HG04204.hp1 NA18942.hp1 NA18982.hp1 NA18985.hp1 NA18991.hp1 NA19004.hp2 NA19009.hp1 NA19066.hp1 NA19080.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0009 a0010 a0026 a0029	a0001c0001 a0002c0029 a0003c0003 others(7): Show a0001c0001 a0002c0029 a0003c0003 a0004c0005 a0004c0013 a0004c0034 a0009c0011 a0010c0021 a0026c0018 a0029c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0022 a0002c0029t0002 a0003c0003t0002 a0003c0003t0026 a0004c0005t0007 a0004c0013t0009 a0004c0034t0029 a0009c0011t0001 a0010c0021t0002 a0026c0018t0012 a0029c0033t0001	a0001c0001t0001g0003 a0001c0001t0001g0053 a0001c0001t0001g0078 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0053 a0001c0001t0001g0078 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0002g0008 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0111 a0001c0001t0020g0072 a0001c0001t0022g0063 a0002c0029t0002g0090 a0003c0003t0002g0013 a0003c0003t0002g0086 a0003c0003t0002g0116 a0003c0003t0026g0108 a0004c0005t0007g0133 a0004c0005t0007g0134 a0004c0005t0007g0136 a0004c0013t0009g0129 a0004c0034t0029g0075 a0009c0011t0001g0006 a0009c0011t0001g0057 a0010c0021t0002g0081 a0026c0018t0012g0101 a0029c0033t0001g0005	29	164	0.1768	20	c.-38 others(31): Show c.-3878_-3877insGAAAGAAAGAAAGAAAGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547867	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0059 a0001c0001t0019g0059	1	164	0.0061	20	c.-38 others(31): Show c.-3843_-3842insAGAAAGAAAGAAAGAAAGAT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3358		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102549251	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02717.hp1 NA18982.hp2 HG00741.hp2 HG02717.hp1 NA18982.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0020 a0003c0003t0002 a0001c0001t0001 a0001c0001t0020 a0003c0003t0002	a0001c0001t0001g0054 a0001c0001t0020g0072 a0003c0003t0002g0013 a0001c0001t0001g0054 a0001c0001t0020g0072 a0003c0003t0002g0013	3	164	0.0183	20	c.-24 others(31): Show c.-2459_-2458insGTGTGTGTGTGTGTGTGTGT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		1974		chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02486.hp2 HG02717.hp2 others(4): Show HG01934.hp2 HG02486.hp2 HG02717.hp2 HG02922.hp1 HG02976.hp2 HG03225.hp2 HG03540.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0036 a0004c0005t0003g0143 a0004c0005t0003g0146 others(4): Show a0004c0005t0003g0036 a0004c0005t0003g0143 a0004c0005t0003g0146 a0004c0005t0003g0147 a0004c0005t0003g0149 a0004c0005t0003g0150 a0004c0005t0003g0152	7	439	0.0160	20	c.-36 others(31): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPDYE8_chr7_73014719_73034766	73027468	C C	CTTTTTTT others(13): Show CTTTTTTTTTCTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0011 a0004c0010t0011	a0004c0010t0011g0016 a0004c0010t0011g0016	1	138	0.0073	20	c.130 others(35): Show c.130+368_130+369insAAAAAAAGAAGAAAAAAAAA	SPDYE8	ENSG00000273520.6	transcript	ENST00000333385.11	protein_coding	2/7			chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24270254	T T	TATACACA others(13): Show TATACACATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0013 a0001c0001t0015g0013	1	326	0.0031	20	c.-87 others(29): Show c.-871_-870insATACACATATATATATATAC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		576		chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24288615	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	326	0.0031	20	c.-38 others(39): Show c.-38+11822_-38+11841dupTTTTTTTTTTTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24402097	G G	GCTTCCCC others(13): Show GCTTCCCCTTCCTTCCCCTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(126): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0009c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0004t0002 a0002c0003t0002 a0009c0007t0002	a0001c0001t0002g0061 a0001c0001t0002g0077 a0001c0001t0002g0079 others(125): Show a0001c0001t0002g0061 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0070 a0001c0001t0003g0092 a0001c0001t0003g0142 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0305 a0001c0001t0006g0042 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0006g0143 a0001c0001t0006g0166 a0001c0001t0006g0171 a0001c0001t0006g0175 a0001c0001t0006g0177 a0001c0001t0008g0299 a0001c0001t0014g0165 a0001c0001t0014g0172 a0001c0001t0014g0292 a0001c0001t0039g0147 a0001c0001t0041g0169 a0001c0001t0042g0191 a0001c0001t0043g0144 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0066 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0115 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0194 a0001c0002t0002g0198 a0001c0002t0002g0291 a0001c0002t0002g0306 a0001c0002t0002g0318 a0001c0002t0010g0064 a0001c0002t0010g0088 a0001c0002t0010g0091 a0001c0002t0010g0105 a0001c0002t0010g0196 a0001c0002t0011g0111 a0001c0002t0011g0112 a0001c0002t0011g0116 a0001c0002t0011g0128 a0001c0002t0019g0131 a0001c0002t0021g0138 a0001c0002t0022g0086 a0001c0004t0002g0113 a0001c0004t0002g0114 a0002c0003t0002g0096 a0002c0003t0002g0101 a0002c0003t0002g0102 a0002c0003t0002g0103 a0002c0003t0002g0104 a0002c0003t0002g0117 a0009c0007t0002g0125	129	326	0.3957	20	c.308 others(39): Show c.3088-9459_3088-9440dupTTCCCCTTCCTTCCCCTTCC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24402139	T T	TTCCCCTT others(13): Show TTCCCCTTCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	326	0.0031	20	c.308 others(39): Show c.3088-9440_3088-9439insTTCCCCTTCCCTCCCCTTCC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20051117	T T	TTTCCTTC others(13): Show TTTCCTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0038 a0004c0005t0038	a0004c0005t0038g0237 a0004c0005t0038g0237	1	250	0.0040	20	c.-22 others(39): Show c.-22+41696_-22+41697insCTTCTTTCCTTCTTTCCTTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20051125	T T	TTTCCTTC others(13): Show TTTCCTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG04199.hp2 NA18986.hp2 HG02293.hp2 HG04199.hp2 NA18986.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0002c0002t0020 a0004c0005t0046 a0002c0002t0001 a0002c0002t0020 a0004c0005t0046	a0002c0002t0001g0022 a0002c0002t0020g0055 a0004c0005t0046g0202 a0002c0002t0001g0022 a0002c0002t0020g0055 a0004c0005t0046g0202	3	250	0.0120	20	c.-22 others(39): Show c.-22+41704_-22+41705insCTTCTTTCCTTCTTTCCTTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20051133	T T	TTTCCTTC others(13): Show TTTCCTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp1 HG01261.hp2 others(5): Show HG00408.hp2 HG01123.hp1 HG01261.hp2 HG01361.hp1 HG01516.hp2 HG02622.hp2 HG03669.hp1 HG04184.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0006 a0002c0002 a0004c0005 a0001c0006 a0002c0002 a0004c0005	a0001c0006t0052 a0002c0002t0001 a0002c0002t0037 others(2): Show a0001c0006t0052 a0002c0002t0001 a0002c0002t0037 a0002c0002t0069 a0004c0005t0057	a0001c0006t0052g0014 a0002c0002t0001g0018 a0002c0002t0001g0020 others(5): Show a0001c0006t0052g0014 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0065 a0002c0002t0037g0010 a0002c0002t0069g0051 a0004c0005t0057g0223	8	250	0.0320	20	c.-22 others(39): Show c.-22+41712_-22+41713insCTTCTTTCCTTCTTTCCTTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTAT others(13): Show ATTATTATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03225.hp1 NA20129.hp2 others(1): Show HG01993.hp1 HG03225.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0030 a0001c0001t0002 a0001c0001t0004 a0001c0001t0030	a0001c0001t0002g0246 a0001c0001t0004g0121 a0001c0001t0004g0245 others(1): Show a0001c0001t0002g0246 a0001c0001t0004g0121 a0001c0001t0004g0245 a0001c0001t0030g0178	4	250	0.0160	20	c.284 others(37): Show c.284-9829_284-9828insATTATTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(13): Show ATTATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18522.hp2 HG02080.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0026 a0001c0001t0015 a0001c0001t0026	a0001c0001t0015g0137 a0001c0001t0026g0186 a0001c0001t0015g0137 a0001c0001t0026g0186	2	250	0.0080	20	c.284 others(37): Show c.284-9829_284-9828insATTTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20254134	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0242 a0001c0003t0062g0242	1	250	0.0040	20	c.268 others(37): Show c.2680+571_2680+590dupGTGTGTGTGTGTGTGTGTGT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGTG others(13): Show AGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0075 a0001c0003t0075	a0001c0003t0075g0147 a0001c0003t0075g0147	1	250	0.0040	20	c.305 others(39): Show c.3057+1872_3057+1873insAGAGTGTGTGTGTGTGTGTG	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(13): Show AGAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0052 a0001c0006t0052	a0001c0006t0052g0014 a0001c0006t0052g0014	1	250	0.0040	20	c.305 others(39): Show c.3057+1872_3057+1873insAGTGTGTGTGTGTGTGTGTG	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(13): Show ATTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02622.hp1 HG02572.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0185 a0001c0001t0027g0187 a0001c0001t0027g0185 a0001c0001t0027g0187	2	250	0.0080	20	c.31 others(31): Show c.3196_*3215dupTTTTTTTTTTTTTTTTTTTT	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(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0107 a0001c0003t0001g0107	1	268	0.0037	20	c.116 others(39): Show c.1167+2073_1167+2092dupATATATATATATATATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751092	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0024 a0024	a0024c0033 a0024c0033	a0024c0033t0001 a0024c0033t0001	a0024c0033t0001g0017 a0024c0033t0001g0017	1	268	0.0037	20	c.333 others(39): Show c.3331-2531_3331-2530insTATATATATATATATATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEG_chr2_219429843_219498629	219431548	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0041 a0041	a0041c0077 a0041c0077	a0041c0077t0003 a0041c0077t0003	a0041c0077t0003g0265 a0041c0077t0003g0265	1	304	0.0033	20	c.-34 others(31): Show c.-3430_-3429insTTCCTTCCTTCCTTCCTTCC	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding		3294		chr2	TogoVar
SPEG_chr2_219429843_219498629	219477215	G G	GGCGGGGC others(13): Show GGCGGGGCCTGGTACAGCGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(146): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03139.hp1 HG03239.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18992.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19074.hp2 NA19082.hp1 NA19086.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0006 a0008 a0010 a0014 a0015 a0018 a0019 a0020 a0023 a0026 a0029 a0033 a0035 a0045 a0047 a0050 a0052 a0054 a0055 a0058	a0001c0001 a0001c0002 a0001c0039 others(32): Show a0001c0001 a0001c0002 a0001c0039 a0001c0041 a0001c0062 a0001c0072 a0001c0083 a0002c0003 a0002c0004 a0003c0005 a0003c0011 a0003c0040 a0003c0082 a0006c0007 a0006c0058 a0008c0014 a0008c0020 a0010c0018 a0014c0024 a0015c0042 a0018c0052 a0019c0078 a0020c0049 a0023c0066 a0026c0033 a0029c0065 a0033c0034 a0035c0094 a0045c0080 a0047c0061 a0050c0093 a0052c0045 a0054c0096 a0055c0035 a0058c0079	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(37): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0039t0001 a0001c0041t0001 a0001c0062t0002 a0001c0072t0001 a0001c0083t0001 a0002c0003t0002 a0002c0004t0002 a0003c0005t0001 a0003c0011t0001 a0003c0040t0001 a0003c0082t0001 a0006c0007t0002 a0006c0058t0002 a0008c0014t0001 a0008c0014t0006 a0008c0020t0002 a0010c0018t0001 a0014c0024t0001 a0015c0042t0001 a0018c0052t0001 a0019c0078t0001 a0020c0049t0001 a0023c0066t0001 a0026c0033t0002 a0029c0065t0001 a0033c0034t0001 a0035c0094t0001 a0045c0080t0001 a0047c0061t0001 a0050c0093t0001 a0052c0045t0001 a0054c0096t0001 a0055c0035t0001 a0058c0079t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(136): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0260 a0001c0001t0001g0277 a0001c0001t0007g0123 a0001c0001t0008g0164 a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0113 a0001c0002t0001g0120 a0001c0002t0001g0129 a0001c0002t0001g0135 a0001c0002t0001g0192 a0001c0002t0001g0219 a0001c0002t0001g0242 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0254 a0001c0002t0001g0257 a0001c0002t0001g0263 a0001c0002t0001g0269 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0002g0201 a0001c0002t0002g0282 a0001c0002t0010g0127 a0001c0039t0001g0143 a0001c0041t0001g0141 a0001c0062t0002g0069 a0001c0072t0001g0089 a0001c0083t0001g0103 a0002c0003t0002g0251 a0002c0004t0002g0149 a0003c0005t0001g0070 a0003c0005t0001g0075 a0003c0005t0001g0076 a0003c0005t0001g0078 a0003c0005t0001g0079 a0003c0005t0001g0083 a0003c0005t0001g0086 a0003c0005t0001g0087 a0003c0005t0001g0088 a0003c0005t0001g0091 a0003c0005t0001g0092 a0003c0005t0001g0187 a0003c0005t0001g0237 a0003c0005t0001g0244 a0003c0005t0001g0256 a0003c0011t0001g0057 a0003c0011t0001g0124 a0003c0011t0001g0130 a0003c0011t0001g0157 a0003c0040t0001g0172 a0003c0082t0001g0094 a0006c0007t0002g0040 a0006c0007t0002g0047 a0006c0007t0002g0050 a0006c0007t0002g0059 a0006c0007t0002g0140 a0006c0007t0002g0169 a0006c0007t0002g0176 a0006c0007t0002g0178 a0006c0007t0002g0191 a0006c0058t0002g0133 a0008c0014t0001g0197 a0008c0014t0006g0195 a0008c0020t0002g0278 a0008c0020t0002g0279 a0010c0018t0001g0008 a0014c0024t0001g0268 a0015c0042t0001g0037 a0018c0052t0001g0002 a0019c0078t0001g0023 a0020c0049t0001g0041 a0023c0066t0001g0193 a0026c0033t0002g0025 a0029c0065t0001g0245 a0033c0034t0001g0026 a0035c0094t0001g0168 a0045c0080t0001g0071 a0047c0061t0001g0067 a0050c0093t0001g0280 a0052c0045t0001g0182 a0054c0096t0001g0095 a0055c0035t0001g0051 a0058c0079t0006g0196	149	304	0.4901	20	c.456 others(35): Show c.4561-62_4561-61insGCGGGGCCTGGTACAGCGGC	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	19/40			chr2	TogoVar
SPEN_chr1_15842707_15945456	15904452	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp1 HG02155.hp1 HG00280.hp1 HG01168.hp1 HG02155.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0045 a0001c0001 a0013c0045	a0001c0001t0001 a0013c0045t0001 a0001c0001t0001 a0013c0045t0001	a0001c0001t0001g0023 a0001c0001t0001g0058 a0013c0045t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0058 a0013c0045t0001g0022	3	304	0.0099	20	c.882 others(37): Show c.882-4863_882-4844dupAAAAAAAAAAAAAAAAAAAA	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPG11_chr15_44557696_44668662	44587693	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA20300.hp2 HG02630.hp2 NA20300.hp2	a0002 a0027 a0002 a0027	a0002c0002 a0027c0024 a0002c0002 a0027c0024	a0002c0002t0002 a0027c0024t0002 a0002c0002t0002 a0027c0024t0002	a0002c0002t0002g0021 a0027c0024t0002g0022 a0002c0002t0002g0021 a0027c0024t0002g0022	2	190	0.0105	20	c.490 others(39): Show c.4906+1539_4906+1558dupTTTTTTTTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	28/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44611091	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0003 a0010c0011t0003	a0010c0011t0003g0173 a0010c0011t0003g0173	1	190	0.0053	20	c.314 others(37): Show c.3146-126_3146-107dupTTTTTTTTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	17/39			chr15	TogoVar
SPHK2_chr19_48614506_48635405	48616643	C C	CCAGCACA others(13): Show CCAGCACAGCACAGCACAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01106.hp2 HG01167.hp1 others(55): Show HG00438.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01433.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02080.hp2 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02559.hp2 HG02809.hp2 HG02970.hp2 HG03516.hp2 HG03688.hp1 HG03927.hp2 HG04228.hp2 NA18612.hp2 NA18945.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18988.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19080.hp1 NA19082.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0109 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0001g0072	58	398	0.1457	20	c.-30 others(31): Show c.-3014_-3013insCAGCACAGCACAGCACAGCA	SPHK2	ENSG00000063176.16	transcript	ENST00000245222.9	protein_coding		2862		chr19	TogoVar
SPHKAP_chr2_227974955_228186687	228001477	A A	ATATATAT others(13): Show ATATATATACGTATATATAAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0012 a0015c0017t0012	a0015c0017t0012g0292 a0015c0017t0012g0292	1	322	0.0031	20	c.444 others(39): Show c.4449-5803_4449-5784dupCTTATATATACGTATATATA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	7/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	A A	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01175.hp2 HG03831.hp2 others(5): Show HG01071.hp2 HG01175.hp2 HG03831.hp2 NA18960.hp1 NA18979.hp1 NA18981.hp2 NA18998.hp2 NA19043.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0003 a0004c0019 others(1): Show a0002c0002 a0004c0003 a0004c0019 a0005c0004	a0002c0002t0001 a0004c0003t0001 a0004c0003t0002 others(3): Show a0002c0002t0001 a0004c0003t0001 a0004c0003t0002 a0004c0003t0010 a0004c0019t0003 a0005c0004t0003	a0002c0002t0001g0158 a0002c0002t0001g0169 a0002c0002t0001g0180 others(5): Show a0002c0002t0001g0158 a0002c0002t0001g0169 a0002c0002t0001g0180 a0004c0003t0001g0171 a0004c0003t0002g0193 a0004c0003t0010g0322 a0004c0019t0003g0111 a0005c0004t0003g0150	8	322	0.0248	20	c.139 others(37): Show c.139-4684_139-4665dupGAGAGAGAGAGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228119456	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp2 HG01346.hp2 others(9): Show HG00140.hp1 HG01243.hp2 HG01346.hp2 HG01928.hp1 HG01993.hp1 HG02572.hp2 HG02630.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 NA18964.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0015	a0001c0001 a0002c0002 a0003c0005 others(4): Show a0001c0001 a0002c0002 a0003c0005 a0004c0003 a0005c0004 a0008c0008 a0015c0017	a0001c0001t0002 a0001c0001t0011 a0002c0002t0001 others(5): Show a0001c0001t0002 a0001c0001t0011 a0002c0002t0001 a0003c0005t0001 a0004c0003t0004 a0005c0004t0003 a0008c0008t0008 a0015c0017t0012	a0001c0001t0002g0126 a0001c0001t0002g0263 a0001c0001t0002g0291 others(9): Show a0001c0001t0002g0126 a0001c0001t0002g0263 a0001c0001t0002g0291 a0001c0001t0011g0084 a0002c0002t0001g0210 a0002c0002t0001g0220 a0003c0005t0001g0294 a0004c0003t0004g0315 a0005c0004t0003g0287 a0008c0008t0008g0088 a0008c0008t0008g0096 a0015c0017t0012g0292	12	322	0.0373	20	c.139 others(39): Show c.139-10518_139-10517insGTGTGTGTGTGTGTGTGTGT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228139910	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0122 a0003c0005t0006g0122	1	322	0.0031	20	c.33- others(35): Show c.33-7845_33-7826dupGAAAGAAAGAAAGAAAGAAA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154512	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0009 a0003c0006t0009	a0003c0006t0009g0117 a0003c0006t0009g0117	1	322	0.0031	20	c.33- others(37): Show c.33-22428_33-22427insTATATATATAGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228161707	C C	CAGAACAA others(13): Show CAGAACAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02486.hp2 others(2): Show HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02965.hp1 HG03195.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0005 a0004c0003 a0005c0004 a0003c0005 a0004c0003 a0005c0004	a0003c0005t0001 a0004c0003t0001 a0005c0004t0003 a0003c0005t0001 a0004c0003t0001 a0005c0004t0003	a0003c0005t0001g0307 a0004c0003t0001g0303 a0004c0003t0001g0305 others(2): Show a0003c0005t0001g0307 a0004c0003t0001g0303 a0004c0003t0001g0305 a0004c0003t0001g0306 a0005c0004t0003g0304	5	322	0.0155	20	c.32+ others(37): Show c.32+19859_32+19860insATTTTATTTTATTTTGTTCT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47366822	A A	AAAAAGAA others(13): Show AAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp2 HG02071.hp2 others(13): Show HG00621.hp1 HG02056.hp2 HG02071.hp2 HG02135.hp1 HG02165.hp2 HG02451.hp1 HG03704.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18942.hp1 NA18979.hp2 NA19005.hp2 NA19060.hp2 NA19068.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0064 others(12): Show a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0104 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0005g0149	16	390	0.0410	20	c.143 others(37): Show c.143-6802_143-6783dupCTTTTCTTTTCTTTTCTTTT	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding	2/4			chr11	TogoVar
SPI1_chr11_47349860_47383547	47381487	T T	TTATATAT others(13): Show TTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01167.hp2 others(16): Show HG00280.hp1 HG00642.hp1 HG01167.hp2 HG01169.hp2 HG01515.hp1 HG01517.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0163 a0001c0001t0001g0264 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0169	19	390	0.0487	20	c.-31 others(31): Show c.-3154_-3135dupTATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2941		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(13): Show TAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03579.hp2 HG02922.hp1 HG03579.hp2	a0001 a0009 a0001 a0009	a0001c0004 a0009c0020 a0001c0004 a0009c0020	a0001c0004t0004 a0009c0020t0020 a0001c0004t0004 a0009c0020t0020	a0001c0004t0004g0163 a0009c0020t0020g0009 a0001c0004t0004g0163 a0009c0020t0020g0009	2	364	0.0055	20	c.611 others(37): Show c.611+8032_611+8033insCTTTCTTTCTTTCTTTCTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPICE1_chr3_113437718_113520156	113486156	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0354 a0002c0003t0005g0354	1	364	0.0028	20	c.611 others(37): Show c.611+2788_611+2789insATATATATATATATATATAT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPICE1_chr3_113437718_113520156	113486210	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0170 a0003c0005t0004g0170	1	364	0.0028	20	c.611 others(37): Show c.611+2715_611+2734dupATATATATATATATATATAT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIC_chr12_101470336_101491997	101479304	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	398	0.0025	20	c.98- others(33): Show c.98-276_98-275insGAAAGAAAGAAAGAAAGAAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar

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