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
SPC25_chr2_168865891_168895430	168889011	G G	GTATATAT others(17): Show GTATATATATACACATATATATACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp2 HG01496.hp2 others(5): Show HG01243.hp1 HG01256.hp2 HG01496.hp2 HG01884.hp1 HG02622.hp1 HG02723.hp1 HG03195.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0063 a0001c0001t0003g0115 a0001c0001t0003g0116 others(4): Show a0001c0001t0003g0063 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0004g0005 a0001c0001t0004g0099	8	286	0.0280	24	c.199 others(39): Show c.199+191_199+214dupTGTATATATATGTGTATATATATA	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding	3/6			chr2	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01123.hp2 HG01169.hp1 others(26): Show HG00099.hp2 HG01123.hp2 HG01169.hp1 HG01258.hp1 HG02004.hp2 HG02155.hp1 HG02165.hp1 HG02451.hp2 HG02647.hp1 HG02717.hp1 HG02976.hp1 HG03471.hp1 HG03516.hp1 HG03942.hp1 NA18612.hp2 NA18962.hp1 NA18978.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19043.hp2 NA19066.hp2 NA19083.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0040 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0210 a0001c0001t0003g0098 a0001c0001t0004g0001 a0001c0001t0004g0028 a0001c0001t0005g0001 a0001c0001t0005g0028 a0001c0001t0006g0046 a0001c0001t0007g0096 a0001c0002t0001g0023	29	62	0.4677	24	c.114 others(41): Show c.114+6465_114+6488dupATATATATATATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPDYA_chr2_28805834_28855610	28823702	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	60	0.0167	24	c.380 others(41): Show c.380+1312_380+1335dupTATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73111754	C C	CTTTTTTT others(17): Show CTTTTTTTTCTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02809.hp1 HG02976.hp1 HG01433.hp1 HG02809.hp1 HG02976.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0001 a0003c0006t0008 a0003c0006t0012 a0001c0002t0001 a0003c0006t0008 a0003c0006t0012	a0001c0002t0001g0088 a0003c0006t0008g0125 a0003c0006t0012g0123 a0001c0002t0001g0088 a0003c0006t0008g0125 a0003c0006t0012g0123	3	87	0.0345	24	c.130 others(39): Show c.130+368_130+369insAAAAAAAAAAAAGAAGAAAAAAAA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	3/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73124921	C C	CTAAATAA others(17): Show CTAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0190 a0001c0001t0006g0190	1	194	0.0052	24	c.-63 others(43): Show c.-639-9380_-639-9379insTTTATTTATTTATTTATTTATTTA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73134537	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0144 a0001c0001t0015g0144	1	9	0.1111	24	c.-63 others(45): Show c.-639-18996_-639-18995insCTTTTTCTTTCTTTCTTTCTTTCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539078	T T	TTTGTTGT others(17): Show TTTGTTGTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0072 a0002c0002t0002g0072	1	245	0.0041	24	c.380 others(39): Show c.380-263_380-262insCAACAACAACAACAACAACAACAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01433.hp2 HG02922.hp2 others(3): Show HG00597.hp2 HG01433.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG04228.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0006 a0003c0003 a0004c0006	a0003c0003t0002 a0004c0006t0002 a0003c0003t0002 a0004c0006t0002	a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0083 others(3): Show a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0004c0006t0002g0093	6	183	0.0328	24	c.380 others(39): Show c.380-266_380-265insCAACAACAACAAAAAAAAAAAAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77064586	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0035 a0001c0001t0007g0035	1	67	0.0149	24	c.-25 others(35): Show c.-2513_-2512insGTGTGTGTGTGTGTGTGTGTGTGT	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding		2029		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994391	A A	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGAAAGAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0026 a0003c0003t0003g0026	1	392	0.0026	24	c.-39 others(35): Show c.-3991_-3990insAAGAAAGAAAGAAAGAAAGAGAAG	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3505		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0019 a0001c0001t0013g0019	1	163	0.0061	24	c.-39 others(35): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0080 a0001c0001t0004g0080	1	163	0.0061	24	c.-39 others(35): Show c.-3964_-3963insAAAGAAAGAAAGAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(17): Show GAAAGAAAGAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	163	0.0061	24	c.-39 others(35): Show c.-3964_-3963insAAAGAAAGAGAAAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAGA others(17): Show GAAAGAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp2 HG03195.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0001 a0001c0001t0004g0031 a0001c0001t0002g0001 a0001c0001t0004g0031	2	164	0.0122	24	c.-39 others(35): Show c.-3964_-3963insAAAGAGAAAGAAAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102646920	A A	AGAGAAAG others(17): Show AGAGAAAGGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 NA19090.hp2 HG02257.hp1 NA19090.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0011c0017t0003 a0001c0001t0001 a0011c0017t0003	a0001c0001t0001g0054 a0011c0017t0003g0004 a0001c0001t0001g0054 a0011c0017t0003g0004	2	110	0.0182	24	c.-38 others(35): Show c.-3879_-3878insGAGAAAGGAAAGAAAGAAAGAAAG	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3398		chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102648345	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 NA21309.hp1 HG03540.hp1 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0046 a0003c0004t0005g0047 a0003c0004t0005g0046 a0003c0004t0005g0047	2	23	0.0870	24	c.-24 others(35): Show c.-2454_-2453insGTGTGTGTGTGTGTGTGTGTGTGT	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		1973		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547829	A A	AGAGAAAG others(17): Show AGAGAAAGGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02818.hp1 HG02293.hp1 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0009 a0001c0011 a0002c0009	a0001c0011t0005 a0002c0009t0013 a0001c0011t0005 a0002c0009t0013	a0001c0011t0005g0008 a0002c0009t0013g0046 a0001c0011t0005g0008 a0002c0009t0013g0046	2	154	0.0130	24	c.-38 others(35): Show c.-3881_-3880insGAGAAAGGAAAGAAAGAAAGAAAG	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3396		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01258.hp1 others(8): Show HG00741.hp2 HG01099.hp1 HG01258.hp1 HG01934.hp2 HG02071.hp1 HG02132.hp1 HG02293.hp2 HG03225.hp2 HG03491.hp2 NA18972.hp1 NA19054.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0003 a0001c0001 a0001c0007 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0007t0018 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0018 a0003c0003t0002 a0003c0003t0003	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0002g0079 a0001c0007t0018g0102 a0003c0003t0002g0043 a0003c0003t0002g0126 a0003c0003t0003g0012 a0003c0003t0003g0023	11	43	0.2558	24	c.-38 others(35): Show c.-3878_-3877insGAAAGAAAGAAAGAAAGAAAGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102549251	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 NA20752.hp1 HG02735.hp1 NA20752.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0008c0013t0002 a0001c0001t0001 a0008c0013t0002	a0001c0001t0001g0052 a0008c0013t0002g0089 a0001c0001t0001g0052 a0008c0013t0002g0089	2	23	0.0870	24	c.-24 others(35): Show c.-2459_-2458insGTGTGTGTGTGTGTGTGTGTGTGT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		1974		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24383792	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	5	0.2000	24	c.308 others(45): Show c.3087+14489_3087+14512dupTTTTTTTTTTTTTTTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20051125	T T	TTTCTTTC others(17): Show TTTCTTTCCTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19009.hp1 HG02132.hp1 NA19009.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0068 a0004c0005t0010 a0004c0005t0068	a0004c0005t0010g0235 a0004c0005t0068g0226 a0004c0005t0010g0235 a0004c0005t0068g0226	2	178	0.0112	24	c.-22 others(43): Show c.-22+41708_-22+41709insCTTCTTTCCTTCTTTCCTTCTTTC	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(17): Show TTTCCTTCTTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0076 a0001c0003t0076	a0001c0003t0076g0042 a0001c0003t0076g0042	1	123	0.0081	24	c.-22 others(43): Show c.-22+41712_-22+41713insCTTCTTTCTTTCCTTCTTTCCTTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20051133	T T	TTTCTTTC others(17): Show TTTCTTTCCTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01175.hp2 NA19076.hp2 HG00323.hp2 HG01175.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0020 a0002c0002t0001 a0002c0002t0020	a0002c0002t0001g0032 a0002c0002t0001g0040 a0002c0002t0020g0035 a0002c0002t0001g0032 a0002c0002t0001g0040 a0002c0002t0020g0035	3	125	0.0240	24	c.-22 others(43): Show c.-22+41733_-22+41756dupCTTCTTTCCTTCTTTCCTTCTTTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(17): Show ATTATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0177 a0001c0001t0006g0177	1	43	0.0233	24	c.284 others(41): Show c.284-9829_284-9828insATTTTTTTTTTTTTTTTTTTTTTT	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(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00642.hp2 others(29): Show HG00099.hp1 HG00408.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01361.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp2 HG02155.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp2 HG02818.hp1 HG02922.hp2 HG02970.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03942.hp2 NA18612.hp1 NA18906.hp1 NA18944.hp1 NA19004.hp1 NA19012.hp2 NA19068.hp2 NA19081.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 others(1): Show a0001c0001 a0001c0006 a0001c0011 a0001c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(16): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0077 a0001c0001t0084 a0001c0001t0088 a0001c0001t0093 a0001c0001t0095 a0001c0001t0098 a0001c0001t0100 a0001c0006t0048 a0001c0006t0104 a0001c0011t0011 a0001c0014t0002	a0001c0001t0002g0120 a0001c0001t0002g0133 a0001c0001t0002g0150 others(29): Show a0001c0001t0002g0120 a0001c0001t0002g0133 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0248 a0001c0001t0004g0112 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0159 a0001c0001t0006g0134 a0001c0001t0006g0144 a0001c0001t0006g0177 a0001c0001t0006g0250 a0001c0001t0011g0116 a0001c0001t0015g0174 a0001c0001t0015g0176 a0001c0001t0026g0126 a0001c0001t0028g0185 a0001c0001t0028g0187 a0001c0001t0029g0122 a0001c0001t0029g0124 a0001c0001t0077g0138 a0001c0001t0084g0161 a0001c0001t0088g0183 a0001c0001t0093g0118 a0001c0001t0095g0005 a0001c0001t0098g0221 a0001c0001t0100g0123 a0001c0006t0048g0067 a0001c0006t0104g0131 a0001c0011t0011g0154 a0001c0014t0002g0157	32	85	0.3765	24	c.259 others(43): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG01361.hp2 others(9): Show HG01081.hp1 HG01175.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03654.hp1 HG03654.hp2 NA18951.hp1 NA19068.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0001c0009 others(1): Show a0001c0001 a0001c0008 a0001c0009 a0003c0013	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0095 a0001c0008t0091 a0001c0008t0092 a0001c0008t0107 a0001c0009t0108 a0001c0009t0109 a0003c0013t0050	a0001c0001t0002g0135 a0001c0001t0006g0177 a0001c0001t0015g0174 others(9): Show a0001c0001t0002g0135 a0001c0001t0006g0177 a0001c0001t0015g0174 a0001c0001t0015g0175 a0001c0001t0015g0176 a0001c0001t0095g0005 a0001c0008t0091g0140 a0001c0008t0092g0158 a0001c0008t0107g0104 a0001c0009t0108g0149 a0001c0009t0109g0148 a0003c0013t0050g0082	12	66	0.1818	24	c.305 others(43): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGTGTGTGTGTG	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(17): Show AGAGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01993.hp1 HG03491.hp1 others(2): Show HG01192.hp2 HG01993.hp1 HG03491.hp1 NA18906.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0029 a0001c0001t0041	a0001c0001t0004g0249 a0001c0001t0006g0128 a0001c0001t0014g0246 others(2): Show a0001c0001t0004g0249 a0001c0001t0006g0128 a0001c0001t0014g0246 a0001c0001t0029g0124 a0001c0001t0041g0019	5	59	0.0847	24	c.305 others(43): Show c.3057+1872_3057+1873insAGAGAGAGAGAGTGTGTGTGTGTG	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(17): Show AGAGAGAGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18974.hp2 NA18980.hp1 others(2): Show HG02132.hp1 NA18974.hp2 NA18980.hp1 NA19012.hp1 NA19076.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0008 a0004c0005t0010 others(2): Show a0001c0001t0002 a0004c0005t0008 a0004c0005t0010 a0004c0005t0069 a0004c0005t0070	a0001c0001t0002g0106 a0004c0005t0008g0231 a0004c0005t0010g0235 others(2): Show a0001c0001t0002g0106 a0004c0005t0008g0231 a0004c0005t0010g0235 a0004c0005t0069g0232 a0004c0005t0070g0239	5	59	0.0847	24	c.305 others(43): Show c.3057+1872_3057+1873insAGAGAGAGAGTGTGTGTGTGTGTG	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(17): Show AGAGAGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0103 a0001c0010t0103	a0001c0010t0103g0102 a0001c0010t0103g0102	1	55	0.0182	24	c.305 others(43): Show c.3057+1872_3057+1873insAGAGAGAGTGTGTGTGTGTGTGTG	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(17): Show AGAGAGAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02273.hp1 HG03098.hp1 HG02083.hp1 HG02273.hp1 HG03098.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0006 a0003c0004 a0004c0005 a0001c0006 a0003c0004 a0004c0005	a0001c0006t0064 a0003c0004t0003 a0004c0005t0008 a0001c0006t0064 a0003c0004t0003 a0004c0005t0008	a0001c0006t0064g0009 a0003c0004t0003g0084 a0004c0005t0008g0223 a0001c0006t0064g0009 a0003c0004t0003g0084 a0004c0005t0008g0223	3	57	0.0526	24	c.305 others(43): Show c.3057+1872_3057+1873insAGAGAGTGTGTGTGTGTGTGTGTG	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(17): Show AGAGAGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0013 a0003c0007t0013	a0003c0007t0013g0080 a0003c0007t0013g0080	1	55	0.0182	24	c.305 others(43): Show c.3057+1872_3057+1873insAGAGTGTGTGTGTGTGTGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35708569	A A	ACACCACC others(17): Show ACACCACCACCATCACCATAACTAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(183): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0011 a0013 a0014 a0015 a0017 a0019 a0020 a0022 a0023 a0027 a0029 a0030 a0031 a0033 a0035 a0036 a0037 a0038 a0040 a0041 a0042 a0043	a0001c0002 a0001c0003 a0002c0001 others(34): Show a0001c0002 a0001c0003 a0002c0001 a0002c0041 a0003c0004 a0004c0005 a0004c0012 a0004c0038 a0007c0011 a0007c0016 a0007c0044 a0007c0045 a0008c0009 a0009c0010 a0011c0015 a0011c0024 a0013c0017 a0014c0019 a0015c0023 a0017c0018 a0019c0046 a0020c0053 a0022c0040 a0023c0028 a0027c0039 a0029c0032 a0030c0027 a0031c0051 a0033c0042 a0035c0030 a0036c0025 a0037c0043 a0038c0052 a0040c0037 a0041c0035 a0042c0031 a0043c0026	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(34): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0041t0001 a0003c0004t0001 a0004c0005t0001 a0004c0012t0001 a0004c0038t0001 a0007c0011t0001 a0007c0016t0001 a0007c0044t0001 a0007c0045t0001 a0008c0009t0001 a0009c0010t0001 a0011c0015t0001 a0011c0024t0001 a0013c0017t0001 a0014c0019t0001 a0015c0023t0001 a0017c0018t0001 a0019c0046t0001 a0020c0053t0001 a0022c0040t0001 a0023c0028t0001 a0027c0039t0001 a0029c0032t0001 a0030c0027t0001 a0031c0051t0001 a0033c0042t0001 a0035c0030t0001 a0036c0025t0001 a0037c0043t0001 a0038c0052t0001 a0040c0037t0001 a0041c0035t0001 a0042c0031t0001 a0043c0026t0001	a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0020 others(182): Show a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0091 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0003t0001g0003 a0001c0003t0001g0024 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0128 a0001c0003t0001g0131 a0001c0003t0001g0133 a0001c0003t0001g0177 a0001c0003t0001g0242 a0001c0003t0001g0264 a0002c0001t0001g0002 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0021 a0002c0001t0001g0043 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0122 a0002c0001t0001g0123 a0002c0001t0001g0184 a0002c0001t0001g0190 a0002c0001t0001g0199 a0002c0001t0001g0204 a0002c0001t0001g0205 a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0228 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0244 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0250 a0002c0001t0001g0252 a0002c0001t0001g0255 a0002c0001t0001g0261 a0002c0001t0001g0263 a0002c0041t0001g0110 a0003c0004t0001g0094 a0004c0005t0001g0064 a0004c0005t0001g0065 a0004c0005t0001g0066 a0004c0005t0001g0101 a0004c0005t0001g0135 a0004c0005t0001g0136 a0004c0005t0001g0137 a0004c0005t0001g0138 a0004c0005t0001g0139 a0004c0005t0001g0140 a0004c0005t0001g0141 a0004c0005t0001g0142 a0004c0005t0001g0143 a0004c0005t0001g0144 a0004c0005t0001g0145 a0004c0005t0001g0148 a0004c0005t0001g0150 a0004c0005t0001g0154 a0004c0005t0001g0156 a0004c0005t0001g0159 a0004c0005t0001g0189 a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0213 a0004c0005t0001g0218 a0004c0005t0001g0221 a0004c0005t0001g0245 a0004c0012t0001g0114 a0004c0012t0001g0170 a0004c0012t0001g0231 a0004c0012t0001g0234 a0004c0038t0001g0195 a0007c0011t0001g0111 a0007c0011t0001g0112 a0007c0011t0001g0113 a0007c0011t0001g0116 a0007c0016t0001g0127 a0007c0016t0001g0129 a0007c0016t0001g0130 a0007c0044t0001g0115 a0007c0045t0001g0155 a0008c0009t0001g0165 a0008c0009t0001g0166 a0008c0009t0001g0167 a0008c0009t0001g0168 a0008c0009t0001g0169 a0009c0010t0001g0012 a0009c0010t0001g0046 a0009c0010t0001g0047 a0009c0010t0001g0070 a0011c0015t0001g0068 a0011c0015t0001g0107 a0011c0015t0001g0109 a0011c0024t0001g0108 a0013c0017t0001g0013 a0013c0017t0001g0014 a0014c0019t0001g0015 a0014c0019t0001g0105 a0015c0023t0001g0197 a0015c0023t0001g0251 a0017c0018t0001g0120 a0017c0018t0001g0121 a0019c0046t0001g0249 a0020c0053t0001g0132 a0022c0040t0001g0009 a0023c0028t0001g0257 a0027c0039t0001g0208 a0029c0032t0001g0023 a0030c0027t0001g0258 a0031c0051t0001g0164 a0033c0042t0001g0200 a0035c0030t0001g0042 a0036c0025t0001g0033 a0037c0043t0001g0223 a0038c0052t0001g0227 a0040c0037t0001g0262 a0041c0035t0001g0045 a0042c0031t0001g0083 a0043c0026t0001g0256	186	266	0.6992	24	c.266 others(41): Show c.2666-364_2666-363insCATAACTATCACCACCACCATCAC	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751042	T T	TGTATATA others(17): Show TGTATATATATACGTATATATATAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0191 a0010c0013t0001g0191	1	247	0.0040	24	c.333 others(43): Show c.3331-2571_3331-2570insCGTATATATATACGTATATATATA	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(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0171 a0006c0007t0001g0171	1	217	0.0046	24	c.333 others(43): Show c.3331-2529_3331-2528insTATATATATATATATATATATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEG_chr2_219429843_219498629	219465928	C C	CGTGTGCG others(17): Show CGTGTGCGTGCGCGTGTGCGTGCAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0138 a0002c0004t0002g0138	1	300	0.0033	24	c.288 others(43): Show c.2882-1236_2882-1235insGCGTGTGCGTGCATGTGTGCGTGC	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	9/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	A A	ATCTCTCT others(17): Show ATCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18954.hp1 NA18963.hp2 others(1): Show HG01074.hp2 NA18954.hp1 NA18963.hp2 NA18970.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0002 a0002c0002t0001 a0005c0004t0003 a0001c0001t0002 a0002c0002t0001 a0005c0004t0003	a0001c0001t0002g0170 a0002c0002t0001g0158 a0002c0002t0001g0200 others(1): Show a0001c0001t0002g0170 a0002c0002t0001g0158 a0002c0002t0001g0200 a0005c0004t0003g0141	4	23	0.1739	24	c.139 others(41): Show c.139-4688_139-4665dupGAGAGAGAGAGAGAGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228119456	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01257.hp1 HG01258.hp2 others(11): Show HG01167.hp1 HG01257.hp1 HG01258.hp2 HG01978.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03239.hp1 HG03540.hp1 HG03579.hp2 NA19005.hp1 NA19009.hp1 NA19058.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0005 a0003c0006 others(2): Show a0001c0001 a0003c0005 a0003c0006 a0004c0003 a0005c0004	a0001c0001t0002 a0003c0005t0006 a0003c0005t0007 others(3): Show a0001c0001t0002 a0003c0005t0006 a0003c0005t0007 a0003c0006t0001 a0004c0003t0001 a0005c0004t0003	a0001c0001t0002g0249 a0003c0005t0006g0121 a0003c0005t0006g0122 others(11): Show a0001c0001t0002g0249 a0003c0005t0006g0121 a0003c0005t0006g0122 a0003c0005t0007g0140 a0003c0006t0001g0097 a0004c0003t0001g0247 a0004c0003t0001g0289 a0004c0003t0001g0290 a0004c0003t0001g0293 a0005c0004t0003g0021 a0005c0004t0003g0070 a0005c0004t0003g0072 a0005c0004t0003g0231 a0005c0004t0003g0242	14	173	0.0809	24	c.139 others(43): Show c.139-10518_139-10517insGTGTGTGTGTGTGTGTGTGTGTGT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228139910	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02071.hp1 HG02155.hp2 others(1): Show HG01258.hp2 HG02071.hp1 HG02155.hp2 HG02257.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0005c0004t0003 a0001c0001t0002 a0005c0004t0003	a0001c0001t0002g0207 a0001c0001t0002g0224 a0001c0001t0002g0246 others(1): Show a0001c0001t0002g0207 a0001c0001t0002g0224 a0001c0001t0002g0246 a0005c0004t0003g0072	4	186	0.0215	24	c.33- others(39): Show c.33-7849_33-7826dupGAAAGAAAGAAAGAAAGAAAGAAA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154532	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0116 a0003c0005t0006g0116	1	238	0.0042	24	c.33- others(41): Show c.33-22448_33-22447insAAAAAAAATATATATATATATATA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47380561	T T	TTTGTTGT others(17): Show TTTGTTGTTGTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00741.hp1 others(50): Show HG00280.hp2 HG00544.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp1 HG01255.hp2 HG01978.hp2 HG02027.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02300.hp2 HG02523.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp2 HG02897.hp2 HG03130.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03704.hp1 HG03831.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18952.hp1 NA18967.hp2 NA18970.hp1 NA18979.hp2 NA18982.hp1 NA18985.hp2 NA18989.hp1 NA18992.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19043.hp2 NA19058.hp1 NA19074.hp2 NA19076.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0151 a0001c0001t0006g0081	53	58	0.9138	24	c.-22 others(35): Show c.-2232_-2209dupCAACAACAACAACAACAACAACAA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2015		chr11	TogoVar
SPI1_chr11_47349860_47383547	47381487	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01243.hp2 HG01884.hp2 others(17): Show HG00099.hp1 HG01243.hp2 HG01884.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp2 HG02738.hp2 HG02886.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03540.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 others(13): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0002g0020 a0001c0001t0002g0037 a0001c0001t0002g0158	20	39	0.5128	24	c.-31 others(35): Show c.-3135_-3134insTATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2941		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(17): Show TAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02723.hp1 HG04115.hp1 others(6): Show HG01433.hp1 HG02723.hp1 HG04115.hp1 NA18969.hp1 NA18982.hp2 NA19054.hp1 NA19077.hp1 NA19079.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0024 others(6): Show a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0036 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0086 a0001c0001t0015g0060 a0001c0001t0015g0071	9	98	0.0918	24	c.611 others(41): Show c.611+8032_611+8033insCTTTCTTTCTTTCTTTCTTTCTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIC_chr12_101470336_101491997	101479172	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	223	0.0090	24	c.98- others(37): Show c.98-383_98-360dupAGAAAGAAAGAAAGAAAGAAAGAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47355271	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	102	0.0098	24	c.526 others(43): Show c.526-41084_526-41083insAAAAAAAAAAAAAAAAAAAAAAAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565971	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA19058.hp1 NA18987.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0050 a0001c0001t0002g0036 a0001c0001t0002g0050	2	197	0.0102	24	c.109 others(45): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT	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(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02523.hp2 HG02071.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0080 a0001c0001t0002g0037 a0001c0001t0001g0080 a0001c0001t0002g0037	2	75	0.0267	24	c.109 others(45): Show c.1098-29818_1098-29817insATATATATATATATATATATATTT	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(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	74	0.0135	24	c.109 others(45): Show c.1098-29818_1098-29817insATATATATATATATATATATTTTT	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(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	74	0.0135	24	c.109 others(45): Show c.1098-29818_1098-29817insATATATATATATATATATTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647616	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp1 NA19064.hp2 HG01081.hp1 HG02109.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0104 a0001c0001t0001g0105 a0002c0002t0002g0059 a0001c0001t0001g0104 a0001c0001t0001g0105 a0002c0002t0002g0059	3	28	0.1071	24	c.154 others(45): Show c.1545-26170_1545-26147dupAGAGAGAGAGAGAGAGAGAGAGAG	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIN1_chr9_88383444_88483694	88434330	C C	CAAATTAT others(17): Show CAAATTATAAAATAGTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02818.hp2 others(6): Show HG02622.hp2 HG02647.hp2 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 a0001c0001t0001 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 others(6): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0012g0002 a0001c0001t0014g0081	9	127	0.0709	24	c.52+ others(39): Show c.52+7793_52+7816dupATAAAATAGTTTATTTTATAAATT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar

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