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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SRGAP2C_chr1_121179975_121397874	121249572	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18940.hp2 NA18994.hp1 HG01074.hp2 NA18940.hp2 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0018	3	274	0.0110	-12	c.68- others(29): Show c.68-35229_68-35218delATATATATTTTT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121261094	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02896.hp2 others(8): Show HG02145.hp2 HG02615.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp1 HG03209.hp1 HG03579.hp2 HG06807.hp1 NA18999.hp1 NA18999.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0047 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0047 a0001c0001t0048	a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0001g0180 others(8): Show a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0213 a0001c0001t0006g0137 a0001c0001t0047g0181 a0001c0001t0048g0214	11	274	0.0402	-12	c.68- others(29): Show c.68-23691_68-23680delTTTTTTTTTTTT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121335343	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 NA20129.hp1 HG02630.hp1 HG02723.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0018 a0001c0001t0001 a0003c0004t0018	a0001c0001t0001g0231 a0003c0004t0018g0001 a0003c0004t0018g0002 a0001c0001t0001g0231 a0003c0004t0018g0001 a0003c0004t0018g0002	3	274	0.0110	-12	c.423 others(31): Show c.423+10739_423+10750delTAAATAAATAAA		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121354261	CCTTTCTT others(5): Show CCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG01943.hp1 others(6): Show HG00140.hp1 HG01071.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp2 HG02602.hp2 HG03139.hp1 HG03654.hp1 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0009 others(2): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0009 a0002c0002t0025 a0002c0002t0034	a0002c0002t0002g0035 a0002c0002t0002g0038 a0002c0002t0002g0047 others(6): Show a0002c0002t0002g0035 a0002c0002t0002g0038 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0005g0012 a0002c0002t0009g0257 a0002c0002t0025g0007 a0002c0002t0034g0042	9	274	0.0329	-12	c.424 others(31): Show c.424-10975_424-10964delCTTTCTTTCTTT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121354396	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	274	0.0037	-12	c.424 others(31): Show c.424-10885_424-10874delTTTTTTTTTTTT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206303884	TCTCTCAC others(5): Show TCTCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG02109.hp2 others(5): Show HG01109.hp2 HG01192.hp1 HG02109.hp2 HG02451.hp2 HG02717.hp1 HG03225.hp1 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0014 a0001c0003t0004 others(3): Show a0001c0001t0001 a0001c0002t0014 a0001c0003t0004 a0001c0003t0005 a0001c0003t0017 a0001c0003t0029	a0001c0001t0001g0002 a0001c0001t0001g0133 a0001c0002t0014g0134 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0133 a0001c0002t0014g0134 a0001c0003t0004g0079 a0001c0003t0004g0135 a0001c0003t0005g0132 a0001c0003t0017g0003 a0001c0003t0029g0171	8	182	0.0440	-12	c.260 others(27): Show c.260+413_260+424delTCTCACACACAC		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	3/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206418884	CTCTCTGT others(5): Show CTCTCTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp2 HG01884.hp1 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0125 a0001c0003t0007g0144 a0001c0003t0007g0125 a0001c0003t0007g0144	2	182	0.0110	-12	c.144 others(29): Show c.1442-487_1442-476delCTCTGTGTGTGT		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	11/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206418886	CTCTGTGT others(5): Show CTCTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0169 a0001c0003t0007g0170 a0001c0003t0007g0169 a0001c0003t0007g0170	2	182	0.0110	-12	c.144 others(29): Show c.1442-485_1442-474delCTGTGTGTGTGT		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	11/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206418888	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0077 a0001c0003t0028g0077	1	182	0.0055	-12	c.144 others(29): Show c.1442-447_1442-436delGTGTGTGTGTGT		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	11/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9030153	AAATGAAT others(5): Show AAATGAATGAATG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp1 others(5): Show HG01069.hp1 HG01071.hp2 HG01175.hp1 HG02647.hp2 HG02717.hp1 HG02970.hp2 HG03540.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0001t0007 a0001c0001t0049 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0049 a0001c0002t0010 a0001c0004t0002 a0001c0004t0009	a0001c0001t0005g0015 a0001c0001t0007g0082 a0001c0001t0049g0084 others(5): Show a0001c0001t0005g0015 a0001c0001t0007g0082 a0001c0001t0049g0084 a0001c0002t0010g0001 a0001c0002t0010g0002 a0001c0002t0010g0003 a0001c0004t0002g0070 a0001c0004t0009g0103	8	228	0.0351	-12	c.153 others(31): Show c.1539+2485_1539+2496delCATTCATTCATT		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	12/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9051017	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0227 a0001c0003t0007g0227	1	228	0.0044	-12	c.132 others(31): Show c.1323+1998_1323+2009delAAAAAAAAAAAA		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	9/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9071640	GTGGATGG others(5): Show GTGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03486.hp2 HG02922.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0009 a0001c0001t0007g0066 a0001c0001t0002g0009 a0001c0001t0007g0066	2	228	0.0088	-12	c.487 others(29): Show c.487-7071_487-7060delTCCATCCATCCA		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	4/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9096937	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02818.hp1 NA18957.hp1 others(1): Show HG00544.hp2 HG02818.hp1 NA18957.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 a0001c0001t0001 a0001c0001t0002 a0001c0001t0023	a0001c0001t0001g0042 a0001c0001t0001g0194 a0001c0001t0002g0153 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0194 a0001c0001t0002g0153 a0001c0001t0023g0134	4	228	0.0175	-12	c.423 others(29): Show c.423+7731_423+7742delTATATATATATA		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9096970	TATATATA others(5): Show TATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	228	0.0044	-12	c.423 others(29): Show c.423+7698_423+7709delGTATATATATAT		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9126645	CTAAATAA others(5): Show CTAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp1 others(1): Show HG01069.hp1 HG01071.hp2 HG01175.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0010 a0001c0001t0002 a0001c0002t0010	a0001c0001t0002g0187 a0001c0002t0010g0001 a0001c0002t0010g0002 others(1): Show a0001c0001t0002g0187 a0001c0002t0010g0001 a0001c0002t0010g0002 a0001c0002t0010g0003	4	228	0.0175	-12	c.68- others(27): Show c.68-1740_68-1729delTTTATTTATTTA		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9140122	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19030.hp1 HG02965.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0020 a0001c0021t0012 a0001c0001t0020 a0001c0021t0012	a0001c0001t0020g0069 a0001c0021t0012g0014 a0001c0001t0020g0069 a0001c0021t0012g0014	2	228	0.0088	-12	c.68- others(29): Show c.68-15217_68-15206delGTGTGTGTGTGT		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9141551	GGGGTGTG others(5): Show GGGGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	228	0.0044	-12	c.68- others(29): Show c.68-16646_68-16635delACACACACACCC		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9141553	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp2 HG01081.hp1 others(14): Show HG00544.hp1 HG01069.hp2 HG01081.hp1 HG01255.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA18993.hp2 NA19067.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0002c0010 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0025 a0001c0001t0042 a0001c0001t0052 a0001c0003t0007 a0001c0004t0011 a0001c0006t0002 a0001c0007t0020 a0001c0007t0026 a0001c0009t0012 a0002c0010t0015 a0003c0008t0002	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0045 others(14): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0003g0113 a0001c0001t0003g0172 a0001c0001t0009g0087 a0001c0001t0025g0088 a0001c0001t0042g0185 a0001c0001t0052g0188 a0001c0003t0007g0227 a0001c0004t0011g0226 a0001c0006t0002g0029 a0001c0007t0020g0074 a0001c0007t0026g0005 a0001c0009t0012g0034 a0002c0010t0015g0011 a0003c0008t0002g0140	17	228	0.0746	-12	c.68- others(29): Show c.68-16648_68-16637delACACACACACAC		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9214117	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	228	0.0044	-12	c.67+ others(29): Show c.67+34756_67+34767delGTGTGTGTGTGT		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21						chr3	TogoVar
SRGN_chr10_69083103_69109805	69091879	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	410	0.0024	-12	c.79+ others(27): Show c.79+3661_79+3672delAAAAAAAAAAAA		SRGN	ENSG00000122862.5	transcript	ENST00000242465.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
SRGN_chr10_69083103_69109805	69091903	AAAAAAGA others(5): Show AAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18985.hp2 NA19004.hp2 NA18962.hp2 NA18985.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067	3	410	0.0073	-12	c.79+ others(27): Show c.79+3672_79+3683delAGAAAAAGAAAA		SRGN	ENSG00000122862.5	transcript	ENST00000242465.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
SRL_chr16_4184374_4247080	4201637	TTTTGTTT others(5): Show TTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0245 a0001c0002t0003g0245	1	358	0.0028	-12	c.259 others(29): Show c.259+1517_259+1528delCAAACAAACAAA		SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	3/5						chr16	TogoVar
SRL_chr16_4184374_4247080	4211748	ATGATGAT others(5): Show ATGATGATGATGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02622.hp2 others(10): Show HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03516.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0003t0009 a0002c0005t0009	a0001c0001t0004g0067 a0001c0001t0004g0072 a0001c0001t0006g0052 others(10): Show a0001c0001t0004g0067 a0001c0001t0004g0072 a0001c0001t0006g0052 a0001c0001t0006g0063 a0001c0001t0006g0261 a0001c0001t0006g0283 a0001c0001t0007g0043 a0001c0001t0010g0005 a0001c0001t0011g0276 a0001c0001t0014g0080 a0001c0003t0009g0316 a0002c0005t0009g0026 a0002c0005t0009g0084	13	358	0.0363	-12	c.62- others(27): Show c.62-7126_62-7115delCCATCATCATCA		SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5						chr16	TogoVar
SRL_chr16_4184374_4247080	4214367	CCTCTGAC others(5): Show CCTCTGACCATTA	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	358	0.0028	-12	c.62- others(27): Show c.62-9745_62-9734delTAATGGTCAGAG		SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5						chr16	TogoVar
SRL_chr16_4184374_4247080	4220278	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	358	0.0028	-12	c.62- others(29): Show c.62-15656_62-15645delGTGTGTGTGTGT		SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5						chr16	TogoVar
SRM_chr1_11049589_11065018	11063959	AAACAAAC others(5): Show AAACAAACAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01123.hp2 HG01361.hp1 others(36): Show HG00558.hp1 HG01123.hp2 HG01361.hp1 HG01496.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG02074.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02602.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp1 NA18966.hp2 NA18972.hp2 NA19012.hp1 NA19055.hp1 NA19057.hp1 NA19074.hp1 NA19088.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0033 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0049 a0001c0002t0003g0054 a0001c0003t0001g0004 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036	39	346	0.1127	-12	c.-40 others(23): Show c.-4028_-4017delGGTTTGTTTGTT		SRM	ENSG00000116649.10	transcript	ENST00000376957.7	protein_coding					3942		chr1	TogoVar
SRP14_chr15_40030690_40044181	40036362	CTGCTGTT others(5): Show CTGCTGTTGTTGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0054 a0003c0008t0001g0054	1	426	0.0024	-12	c.370 others(19): Show c.370_381delCCAACAACAGCA	p.Pro others(13): Show p.Pro124_Ala127del	SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	5/5	446/1119	370/411	124/136			chr15	TogoVar
SRP54_chr14_34977992_35034567	34981184	TACACACA others(5): Show TACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00733.hp2 others(57): Show HG00140.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02074.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02895.hp2 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG06807.hp2 NA18941.hp2 NA18978.hp1 NA18990.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(57): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0174 a0001c0003t0001g0155	60	396	0.1515	-12	c.-20 others(23): Show c.-2064_-2053delACACACACACAC		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding					1807		chr14	TogoVar
SRP54_chr14_34977992_35034567	34990630	TCTTGAGA others(5): Show TCTTGAGAGTGTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01071.hp2 others(9): Show HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01346.hp2 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01981.hp2 HG02148.hp1 HG02273.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0120 others(9): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151	12	396	0.0303	-12	c.-33 others(29): Show c.-33-6041_-33-6030delGAGTGTACTTGA		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34995134	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp1 HG02622.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0146 a0001c0001t0003g0178 a0001c0001t0001g0146 a0001c0001t0003g0178	2	396	0.0051	-12	c.-33 others(29): Show c.-33-1500_-33-1489delGTGTGTGTGTGT		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34999002	TGTGTGTG others(5): Show TGTGTGTGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18990.hp2 HG00621.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0379 a0001c0001t0002g0381 a0001c0001t0002g0379 a0001c0001t0002g0381	2	396	0.0051	-12	c.79- others(25): Show c.79-555_79-544delGTGTGTGTGTGG		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	2/15						chr14	TogoVar
SRP54_chr14_34977992_35034567	35023787	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	396	0.0025	-12	c.132 others(29): Show c.1327+732_1327+743delACACACACACAC		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062729	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00558.hp2 others(108): Show HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18988.hp1 NA18997.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0002c0005 a0005c0007 others(1): Show a0001c0001 a0002c0005 a0005c0007 a0008c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0002c0005t0002 a0005c0007t0002 a0008c0019t0002	a0001c0001t0001g0132 a0001c0001t0002g0005 a0001c0001t0002g0006 others(105): Show a0001c0001t0001g0132 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0006g0044 a0001c0001t0006g0082 a0001c0001t0006g0116 a0001c0001t0008g0071 a0002c0005t0002g0337 a0002c0005t0002g0339 a0005c0007t0002g0027 a0008c0019t0002g0340	111	365	0.3041	-12	c.562 others(29): Show c.562-1167_562-1156delTATATATATATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76072428	TGCCACCG others(5): Show TGCCACCGCCGCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18962.hp2 NA18962.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0020 a0009c0010t0001g0020	1	365	0.0027	-12	c.52_ others(17): Show c.52_63delGGCGGCGGTGGC	p.Gly others(11): Show p.Gly18_Gly21del	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	1/16	89/2831	52/1884	18/627			chr17	TogoVar
SRP9_chr1_225772826_225795464	225784229	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00597.hp1 others(47): Show HG00280.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG01106.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp2 HG01928.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02273.hp1 HG02559.hp2 HG03017.hp1 HG03491.hp1 HG03669.hp1 HG03834.hp1 NA18940.hp1 NA18941.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA19002.hp1 NA19006.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19076.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0014 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259	50	474	0.1055	-12	c.141 others(27): Show c.141+885_141+896delTTTTTTTTTTTT		SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK1_chr6_35827966_35926098	35832248	ATATTTAT others(5): Show ATATTTATTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01070.hp1 others(20): Show HG00639.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG02074.hp2 HG02132.hp1 HG02647.hp2 HG02698.hp2 HG03139.hp2 HG03579.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp2 HG06807.hp1 NA18906.hp2 NA18946.hp2 NA18947.hp2 NA18959.hp2 NA18975.hp2 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA19007.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0003 a0001c0001t0005 a0004c0006t0005 a0001c0001t0003 a0001c0001t0005 a0004c0006t0005	a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(20): Show a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0232 a0001c0001t0005g0007 a0001c0001t0005g0008 a0004c0006t0005g0235	23	342	0.0673	-12	c.30 others(23): Show c.3044_*3055delAATAAATAAATA		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding					717		chr6	TogoVar
SRPK1_chr6_35827966_35926098	35836754	CAATAATA others(5): Show CAATAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	342	0.0029	-12	c.178 others(31): Show c.1784-1278_1784-1267delATTATTATTATT		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	15/15						chr6	TogoVar
SRPK1_chr6_35827966_35926098	35863622	GGGAGGGG others(5): Show GGGAGGGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01070.hp1 others(17): Show HG00639.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG02074.hp2 HG02132.hp1 HG02698.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp2 HG06807.hp1 NA18906.hp2 NA18946.hp2 NA18947.hp2 NA18959.hp2 NA18975.hp2 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(17): Show a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0232	20	342	0.0585	-12	c.151 others(31): Show c.1512+5376_1512+5387delACCTCCCCCTCC		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	12/15						chr6	TogoVar
SRPK1_chr6_35827966_35926098	35881426	CATATAGA others(5): Show CATATAGATATAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00733.hp2 others(37): Show HG00323.hp1 HG00597.hp1 HG00733.hp2 HG01106.hp2 HG01243.hp1 HG01255.hp1 HG01496.hp1 HG01884.hp2 HG02004.hp1 HG02056.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp2 NA18522.hp2 NA18941.hp1 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18986.hp1 NA19001.hp2 NA19030.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0003c0005t0002 a0004c0006t0005	a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0053 others(37): Show a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0135 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0004g0016 a0001c0001t0005g0007 a0001c0002t0002g0239 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0307 a0001c0002t0002g0310 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0326 a0003c0005t0002g0325 a0004c0006t0005g0235	40	342	0.1170	-12	c.478 others(29): Show c.478+5286_478+5297delCTATATCTATAT		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15						chr6	TogoVar
SRPK1_chr6_35827966_35926098	35882118	CTAGTAGT others(5): Show CTAGTAGTAGTAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02717.hp2 others(3): Show HG02109.hp2 HG02280.hp1 HG02717.hp2 HG02976.hp2 HG03209.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0001 a0001c0001t0004 a0001c0001t0021	a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0004g0225 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0021g0335	6	342	0.0175	-12	c.478 others(29): Show c.478+4594_478+4605delCTACTACTACTA		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15						chr6	TogoVar
SRPK1_chr6_35827966_35926098	35892653	AAACAACA others(5): Show AAACAACAACAAC	A A	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	342	0.0029	-12	c.75- others(27): Show c.75-1652_75-1641delGTTGTTGTTGTT		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	2/15						chr6	TogoVar
SRPK1_chr6_35827966_35926098	35915995	TATACACA others(5): Show TATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02630.hp1 others(2): Show HG02257.hp1 HG02486.hp2 HG02630.hp1 HG02886.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0099	5	342	0.0146	-12	c.74+ others(27): Show c.74+4461_74+4472delGTGTGTGTGTAT		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	2/15						chr6	TogoVar
SRPK1_chr6_35827966_35926098	35915997	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0042 a0001c0001t0015g0042	1	342	0.0029	-12	c.74+ others(27): Show c.74+4459_74+4470delGTGTGTGTGTGT		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	2/15						chr6	TogoVar
SRPK2_chr7_105111374_105393921	105170825	GAGAAAGA others(5): Show GAGAAAGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03579.hp2 HG02897.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0012 a0001c0001t0001g0014	2	282	0.0071	-12	c.230 others(29): Show c.230-1572_230-1561delTCCTTTCTTTCT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170836	GAAGAAAG others(5): Show GAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01496.hp2 HG02056.hp1 others(12): Show HG01257.hp2 HG01496.hp2 HG02056.hp1 HG02109.hp2 HG02809.hp1 HG02922.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 NA18941.hp1 NA18971.hp2 NA18975.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 a0001c0001t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0099 others(12): Show a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0099 a0001c0001t0001g0191 a0001c0001t0001g0207 a0001c0001t0001g0223 a0001c0001t0001g0232 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0002g0240 a0004c0005t0001g0269	15	282	0.0532	-12	c.230 others(29): Show c.230-1583_230-1572delTCTTTCTTTCTT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105190708	TGGAAGGC others(5): Show TGGAAGGCTCCAA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	282	0.0036	-12	c.229 others(31): Show c.229+12908_229+12919delTTGGAGCCTTCC		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105205513	TCTCTCAC others(5): Show TCTCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03017.hp1 HG00423.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0216 a0001c0001t0001g0058 a0001c0001t0001g0216	2	282	0.0071	-12	c.72- others(27): Show c.72-1740_72-1729delTGTGTGTGAGAG		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105205515	TCTCACAC others(5): Show TCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01175.hp2 HG01256.hp2 others(14): Show HG00280.hp1 HG01175.hp2 HG01256.hp2 HG01361.hp2 HG01496.hp2 HG01993.hp1 HG02300.hp1 HG02615.hp1 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG03834.hp1 HG04184.hp1 NA18981.hp1 NA18985.hp1 NA19078.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 others(14): Show a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0212 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0281 a0001c0001t0009g0154	17	282	0.0603	-12	c.72- others(27): Show c.72-1742_72-1731delTGTGTGTGTGAG		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105205517	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01071.hp2 others(19): Show HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02040.hp2 HG02280.hp1 HG02559.hp1 HG02976.hp1 NA18970.hp1 NA19043.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0003	a0001c0001t0001g0032 a0001c0001t0001g0075 a0001c0001t0001g0093 others(19): Show a0001c0001t0001g0032 a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0211 a0001c0001t0001g0238 a0001c0001t0001g0264 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0011g0273 a0001c0002t0003g0039	22	282	0.0780	-12	c.72- others(27): Show c.72-1744_72-1733delTGTGTGTGTGTG		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15						chr7	TogoVar
SRPK2_chr7_105111374_105393921	105233080	AAAGGAAG others(5): Show AAAGGAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	282	0.0036	-12	c.72- others(29): Show c.72-29307_72-29296delCTTTCCTTCCTT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15						chr7	TogoVar

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