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
SPNS3_chr17_4428940_4493204	4468763	CTCTTTCT others(3): Show CTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03098.hp2 HG03516.hp1 HG01099.hp1 HG03098.hp2 HG03516.hp1	a0004 a0004	a0004c0017 a0004c0030 a0004c0048 a0004c0017 a0004c0030 a0004c0048	a0004c0017t0002 a0004c0030t0002 a0004c0048t0002 a0004c0017t0002 a0004c0030t0002 a0004c0048t0002	a0004c0017t0002g0033 a0004c0030t0002g0009 a0004c0048t0002g0006 a0004c0017t0002g0033 a0004c0030t0002g0009 a0004c0048t0002g0006	3	362	0.0083	-10	c.111 others(29): Show c.1114-9799_1114-9790delTTCTTTCTTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4472774	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18522.hp1 HG02280.hp2 NA18522.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0002 a0001c0012t0001 a0001c0012t0002	a0001c0012t0001g0047 a0001c0012t0002g0051 a0001c0012t0001g0047 a0001c0012t0002g0051	2	362	0.0055	-10	c.111 others(29): Show c.1114-5774_1114-5765delTTTTTTTTTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPN_chr16_29658247_29675876	29666518	TCTCTCTC others(3): Show TCTCTCTCACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02922.hp1 HG03130.hp1 HG02109.hp1 HG02922.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0088 a0001c0001t0041 a0001c0001t0088	a0001c0001t0041g0001 a0001c0001t0088g0001 a0001c0001t0041g0001 a0001c0001t0088g0001	3	394	0.0076	-10	c.15 others(21): Show c.1589_*1598delTCTCTCACAC	SPN	ENSG00000197471.12	transcript	ENST00000652691.1	protein_coding	2/2	1589	INFO_REALIGN_3_PRIME	chr16	TogoVar
SPN_chr16_29658247_29675876	29666552	ACGCGCGC others(3): Show ACGCGCGCGCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0169 a0001c0001t0169	a0001c0001t0169g0002 a0001c0001t0169g0002	1	394	0.0025	-10	c.16 others(21): Show c.1629_*1638delGCGCGCGCGC	SPN	ENSG00000197471.12	transcript	ENST00000652691.1	protein_coding	2/2	1629	INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCK1_chr5_136970298_137504326	137122247	ACACACAC others(3): Show ACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0090 a0001c0002t0006g0090	1	152	0.0066	-10	c.348 others(27): Show c.348-9696_348-9687delCGTGTGTGTG	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01099.hp2 HG01981.hp2 others(16): Show HG01071.hp2 HG01099.hp2 HG01981.hp2 HG02257.hp1 HG02698.hp2 HG02723.hp2 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03834.hp1 HG03942.hp1 NA18953.hp1 NA18954.hp2 NA19000.hp2 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0036 others(16): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0002g0105 a0001c0001t0002g0116 a0001c0001t0002g0139 a0001c0001t0003g0016 a0001c0001t0003g0032 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0007g0046 a0001c0001t0009g0069 a0001c0001t0009g0070 a0001c0001t0011g0115 a0001c0001t0017g0118	19	152	0.1250	-10	c.347 others(27): Show c.347+8581_347+8590delATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137170587	TTCTCTCT others(3): Show TTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	152	0.0066	-10	c.233 others(29): Show c.233-29903_233-29894delGAGAGAGAGA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137245777	AAAAAAAA others(3): Show AAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01981.hp2 HG02257.hp2 others(1): Show HG01516.hp1 HG01981.hp2 HG02257.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012	a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0009g0070 others(1): Show a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0009g0070 a0001c0001t0012g0102	4	152	0.0263	-10	c.232 others(29): Show c.232+21223_232+21232delGTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137292426	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18962.hp1 NA18966.hp1 others(4): Show HG03834.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA19000.hp2 NA19002.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0076 others(4): Show a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0002g0112 a0001c0001t0004g0079 a0001c0001t0008g0073	7	152	0.0461	-10	c.187 others(29): Show c.187-25381_187-25372delTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137293089	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02040.hp1 HG02109.hp1 others(25): Show HG01071.hp2 HG02040.hp1 HG02109.hp1 HG02135.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG03041.hp2 HG03453.hp2 HG03486.hp2 HG03579.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18953.hp2 NA18954.hp1 NA18968.hp2 NA18970.hp1 NA18983.hp1 NA19000.hp1 NA19002.hp2 NA19007.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0002t0001 a0001c0002t0007	a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0036 others(25): Show a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0003g0016 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0055 a0001c0001t0004g0063 a0001c0001t0007g0048 a0001c0001t0010g0002 a0001c0001t0010g0038 a0001c0001t0013g0137 a0001c0001t0017g0125 a0001c0001t0021g0068 a0001c0001t0022g0006 a0001c0001t0029g0123 a0001c0001t0031g0152 a0001c0001t0032g0124 a0001c0002t0001g0014 a0001c0002t0001g0049 a0001c0002t0007g0080	28	152	0.1842	-10	c.187 others(29): Show c.187-26044_187-26035delAAAAAAAAAA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356797	TAATATAT others(3): Show TAATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0006 a0001c0001t0022g0006	1	152	0.0066	-10	c.187 others(29): Show c.187-89752_187-89743delTATATATATT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356798	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0111 a0001c0002t0005g0111	1	152	0.0066	-10	c.187 others(29): Show c.187-89753_187-89744delATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137401558	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02280.hp1 HG01496.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0019 a0001c0002t0014 a0001c0002t0019	a0001c0002t0014g0017 a0001c0002t0019g0010 a0001c0002t0014g0017 a0001c0002t0019g0010	2	152	0.0132	-10	c.186 others(29): Show c.186+96805_186+96814delTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166752571	TATACACA others(3): Show TATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	144	0.0069	-10	c.931 others(27): Show c.931+1927_931+1936delGTGTGTGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	8/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166840771	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02132.hp2 HG02071.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0095 a0001c0001t0002g0121 a0001c0001t0001g0095 a0001c0001t0002g0121	2	144	0.0139	-10	c.589 others(29): Show c.589+48349_589+48358delAAAAAAAAAA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166929541	GCTTAAAT others(3): Show GCTTAAATATC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01943.hp1 others(12): Show HG00642.hp1 HG00741.hp2 HG01943.hp1 HG02004.hp2 HG02970.hp1 HG03098.hp2 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG04115.hp1 NA20129.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0004t0003 a0001c0009t0004	a0001c0001t0001g0094 a0001c0001t0002g0022 a0001c0001t0002g0027 others(12): Show a0001c0001t0001g0094 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0078 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0120 a0001c0001t0004g0028 a0001c0001t0004g0072 a0001c0001t0004g0079 a0001c0001t0004g0097 a0001c0001t0005g0105 a0001c0001t0009g0068 a0001c0004t0003g0008 a0001c0009t0004g0011	15	144	0.1042	-10	c.351 others(29): Show c.351-16808_351-16799delGATATTTAAG	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	4/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166985207	ACCTAAGA others(3): Show ACCTAAGAAAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	144	0.0069	-10	c.350 others(29): Show c.350+15132_350+15141delATTTCTTAGG	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	4/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167078308	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00558.hp2 others(24): Show HG00140.hp1 HG00140.hp2 HG00558.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG02004.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02602.hp1 HG02683.hp2 HG02895.hp1 HG03225.hp2 HG03491.hp1 HG03540.hp2 HG04115.hp2 HG04204.hp1 NA18947.hp1 NA19002.hp1 NA19063.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0002t0005 a0001c0004t0002 a0001c0004t0015 a0002c0003t0006	a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0094 others(24): Show a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0002g0082 a0001c0001t0002g0122 a0001c0001t0003g0017 a0001c0001t0003g0034 a0001c0001t0003g0047 a0001c0001t0003g0076 a0001c0001t0003g0104 a0001c0001t0003g0112 a0001c0001t0004g0072 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0114 a0001c0001t0004g0130 a0001c0002t0003g0035 a0001c0002t0005g0074 a0001c0004t0002g0004 a0001c0004t0015g0001 a0002c0003t0006g0040	27	144	0.1875	-10	c.190 others(29): Show c.190-15781_190-15772delCACACACACA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109316	AATATATT others(3): Show AATATATTAAT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	144	0.0069	-10	c.190 others(29): Show c.190-46789_190-46780delATTAATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167135680	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG01346.hp1 others(15): Show HG00621.hp2 HG00642.hp2 HG01346.hp1 HG01943.hp2 HG01981.hp2 HG02071.hp1 HG02165.hp2 HG02273.hp2 HG04184.hp1 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp1 NA18969.hp1 NA18971.hp1 NA19070.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0054 others(15): Show a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0088 a0001c0001t0001g0123 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0003g0057 a0001c0001t0009g0068 a0001c0001t0010g0067	18	144	0.1250	-10	c.190 others(29): Show c.190-73153_190-73144delACACACACAC	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167235161	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	144	0.0069	-10	c.-72 others(19): Show c.-722_-713delCACACACACA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding		668		chr4	TogoVar
SPON1_chr11_13957723_14273133	13990373	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	224	0.0045	-10	c.345 others(27): Show c.345+7445_345+7454delTTTTTTTTTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14069831	CTCTATCT others(3): Show CTCTATCTACA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00558.hp2 others(97): Show HG00280.hp1 HG00408.hp2 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01516.hp2 HG01978.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18966.hp2 NA18970.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19054.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19090.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0002t0013 a0001c0002t0017 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0008 a0001c0003t0016 a0001c0004t0001 a0001c0004t0002 a0001c0008t0002 a0001c0009t0001 a0001c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0030 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0058 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0003g0179 a0001c0001t0003g0187 a0001c0001t0003g0206 a0001c0001t0004g0178 a0001c0001t0004g0183 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0196 a0001c0001t0004g0205 a0001c0001t0005g0146 a0001c0001t0006g0029 a0001c0002t0001g0003 a0001c0002t0001g0023 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0002t0001g0045 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0064 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0132 a0001c0002t0001g0137 a0001c0002t0001g0149 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0174 a0001c0002t0002g0167 a0001c0002t0003g0180 a0001c0002t0003g0197 a0001c0002t0003g0208 a0001c0002t0003g0221 a0001c0002t0007g0204 a0001c0002t0011g0148 a0001c0002t0013g0151 a0001c0002t0017g0185 a0001c0003t0001g0069 a0001c0003t0001g0072 a0001c0003t0001g0079 a0001c0003t0001g0082 a0001c0003t0001g0088 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0002g0090 a0001c0003t0002g0099 a0001c0003t0002g0100 a0001c0003t0002g0103 a0001c0003t0005g0089 a0001c0003t0008g0091 a0001c0003t0008g0092 a0001c0003t0016g0073 a0001c0004t0001g0067 a0001c0004t0001g0070 a0001c0004t0001g0077 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0087 a0001c0004t0001g0096 a0001c0004t0001g0107 a0001c0004t0001g0117 a0001c0004t0002g0074 a0001c0004t0002g0075 a0001c0008t0002g0022 a0001c0009t0001g0170 a0001c0011t0001g0111	100	224	0.4464	-10	c.480 others(27): Show c.480-5513_480-5504delTCTATCTACA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	3/15			chr11	TogoVar
SPON1_chr11_13957723_14273133	14088623	CTCGGGGA others(3): Show CTCGGGGAGTA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01074.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0002 a0001c0004t0001g0076 a0001c0001t0001g0002 a0001c0004t0001g0076	2	224	0.0089	-10	c.676 others(27): Show c.676+8605_676+8614delGGGGAGTATC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14113568	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01167.hp2 others(7): Show HG00735.hp2 HG01081.hp2 HG01167.hp2 HG01884.hp2 HG02572.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0002g0008 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0002g0008 a0001c0001t0004g0178 a0001c0002t0001g0120 a0001c0002t0001g0168 a0001c0002t0002g0167 a0001c0002t0003g0213 a0001c0003t0001g0176 a0001c0004t0001g0080	10	224	0.0446	-10	c.677 others(29): Show c.677-21809_677-21800delTTTTTTTTTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160391	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	224	0.0045	-10	c.825 others(29): Show c.825+24825_825+24834delATATATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160689	ATTTATAT others(3): Show ATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02897.hp2 HG03579.hp1 others(1): Show HG02886.hp2 HG02897.hp2 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0001t0001 a0001c0001t0004 a0001c0002t0003	a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0004g0200 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0004g0200 a0001c0002t0003g0201	4	224	0.0179	-10	c.825 others(29): Show c.825+25123_825+25132delTTATATATTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160879	TTATATAT others(3): Show TTATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	224	0.0045	-10	c.825 others(29): Show c.825+25327_825+25336delATTTATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14161037	ATCTATAT others(3): Show ATCTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0113 a0001c0004t0001g0113	1	224	0.0045	-10	c.825 others(29): Show c.825+25471_825+25480delCTATATATTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14200814	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18943.hp1 HG03486.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0062 a0001c0009t0001g0170 a0001c0001t0001g0062 a0001c0009t0001g0170	2	224	0.0089	-10	c.826 others(29): Show c.826-42494_826-42485delAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14240589	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02258.hp2 HG00735.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0173 a0001c0001t0004g0222 a0001c0001t0002g0173 a0001c0001t0004g0222	2	224	0.0089	-10	c.826 others(27): Show c.826-2705_826-2696delGTGTGTGTGT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON2_chr4_1161932_1177583	1172311	AGTCCGAG others(3): Show AGTCCGAGTCC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	432	0.0023	-10	c.-4+ others(23): Show c.-4+223_-4+232delGGACTCGGAC	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding	1/5			chr4	TogoVar
SPOPL_chr2_138496770_138578547	138498341	AAAAAGAA others(3): Show AAAAAGAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0120 a0001c0001t0017g0120	1	372	0.0027	-10	c.-38 others(21): Show c.-3838_-3829delAAAAGAAAAG	SPOPL	ENSG00000144228.9	transcript	ENST00000280098.9	protein_coding		3428		chr2	TogoVar
SPOPL_chr2_138496770_138578547	138529498	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01109.hp2 others(29): Show HG00741.hp2 HG01069.hp2 HG01109.hp2 HG01255.hp2 HG01361.hp1 HG02040.hp1 HG02155.hp2 HG03704.hp1 NA18945.hp2 NA18952.hp1 NA18967.hp2 NA18970.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19057.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19083.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0024 a0001c0001t0001 a0001c0001t0007 a0001c0001t0024	a0001c0001t0001g0005 a0001c0001t0001g0031 a0001c0001t0001g0039 others(27): Show a0001c0001t0001g0005 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0191 a0001c0001t0001g0277 a0001c0001t0007g0003 a0001c0001t0007g0094 a0001c0001t0007g0097 a0001c0001t0007g0100 a0001c0001t0024g0081	32	372	0.0860	-10	c.-60 others(29): Show c.-60-20631_-60-20622delGTGTGTGTGT	SPOPL	ENSG00000144228.9	transcript	ENST00000280098.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPOPL_chr2_138496770_138578547	138530922	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	372	0.0027	-10	c.-60 others(29): Show c.-60-19214_-60-19205delGTGTGTGTGT	SPOPL	ENSG00000144228.9	transcript	ENST00000280098.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPOPL_chr2_138496770_138578547	138567372	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG00741.hp2 others(37): Show HG00099.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01496.hp1 HG01993.hp2 HG02129.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp2 HG02602.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03486.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18951.hp2 NA18952.hp2 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19087.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0036 a0001c0001t0038 a0001c0002t0013	a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0044 others(36): Show a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0208 a0001c0001t0002g0013 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0294 a0001c0001t0002g0312 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0002g0350 a0001c0001t0003g0170 a0001c0001t0003g0180 a0001c0001t0004g0246 a0001c0001t0005g0047 a0001c0001t0005g0049 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0122 a0001c0001t0005g0133 a0001c0001t0006g0065 a0001c0001t0006g0067 a0001c0001t0009g0024 a0001c0001t0009g0025 a0001c0001t0015g0061 a0001c0001t0015g0062 a0001c0001t0017g0120 a0001c0001t0036g0315 a0001c0001t0038g0023 a0001c0002t0013g0164	40	372	0.1075	-10	c.103 others(29): Show c.1035-1511_1035-1502delGTGTGTGTGT	SPOPL	ENSG00000144228.9	transcript	ENST00000280098.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPOP_chr17_49593884_49683097	49614802	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00673.hp1 others(53): Show HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02683.hp2 HG02698.hp1 HG03130.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18952.hp1 NA18959.hp1 NA18962.hp1 NA18968.hp1 NA18980.hp2 NA19005.hp2 NA19063.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19088.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0025 a0001c0003t0001	a0001c0001t0001g0334 a0001c0001t0001g0345 a0001c0001t0001g0346 others(53): Show a0001c0001t0001g0334 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0362 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0004g0027 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0020 a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0224 a0001c0001t0012g0026 a0001c0001t0025g0019 a0001c0003t0001g0350	56	390	0.1436	-10	c.481 others(27): Show c.481-3355_481-3346delACACACACAC	SPOP	ENSG00000121067.19	transcript	ENST00000504102.6	protein_coding	5/9			chr17	TogoVar
SPOP_chr17_49593884_49683097	49624331	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG01168.hp2 others(24): Show HG00621.hp2 HG00673.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01516.hp2 HG02027.hp1 HG02055.hp2 HG02129.hp1 HG02273.hp1 HG02300.hp2 HG02683.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04228.hp1 NA18952.hp1 NA18959.hp1 NA18962.hp1 NA18980.hp2 NA19058.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0025	a0001c0001t0004g0027 a0001c0001t0006g0012 a0001c0001t0006g0014 others(24): Show a0001c0001t0004g0027 a0001c0001t0006g0012 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0020 a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0006g0036 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0224 a0001c0001t0012g0026 a0001c0001t0025g0019	27	390	0.0692	-10	c.-66 others(27): Show c.-66-1465_-66-1456delTGTGTGTGTG	SPOP	ENSG00000121067.19	transcript	ENST00000504102.6	protein_coding	1/9			chr17	TogoVar
SPOP_chr17_49593884_49683097	49665649	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01081.hp1 others(33): Show HG00639.hp1 HG00738.hp1 HG01081.hp1 HG01109.hp1 HG01243.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02074.hp1 HG02300.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp2 HG04115.hp1 NA18957.hp2 NA19030.hp2 NA19066.hp2 NA19082.hp1 NA19090.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0278 a0001c0001t0001g0279 others(32): Show a0001c0001t0001g0005 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0334 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0362 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0002g0001 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0351 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0003t0001g0350	36	390	0.0923	-10	c.-67 others(29): Show c.-67+12274_-67+12283delGTGTGTGTGT	SPOP	ENSG00000121067.19	transcript	ENST00000504102.6	protein_coding	1/9			chr17	TogoVar
SPOP_chr17_49593884_49683097	49666448	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01256.hp1 HG02647.hp2 others(7): Show HG01243.hp2 HG01256.hp1 HG02647.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03486.hp2 NA18522.hp1 NA19030.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0018	a0001c0001t0002g0001 a0001c0001t0002g0059 a0001c0001t0006g0015 others(6): Show a0001c0001t0002g0001 a0001c0001t0002g0059 a0001c0001t0006g0015 a0001c0001t0010g0064 a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0010g0078 a0001c0001t0018g0007 a0001c0001t0018g0008	10	390	0.0256	-10	c.-67 others(29): Show c.-67+11475_-67+11484delGTGTGTGTGT	SPOP	ENSG00000121067.19	transcript	ENST00000504102.6	protein_coding	1/9			chr17	TogoVar
SPOP_chr17_49593884_49683097	49679066	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03486.hp2 HG01243.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0007 a0001c0001t0018g0008 a0001c0001t0018g0007 a0001c0001t0018g0008	2	390	0.0051	-10	c.-12 others(21): Show c.-1210_-1201delTTTTTTTTTT	SPOP	ENSG00000121067.19	transcript	ENST00000504102.6	protein_coding		970		chr17	TogoVar
SPPL2A_chr15_50697266_50770706	50697342	TCCAGCCT others(3): Show TCCAGCCTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00544.hp1 others(80): Show HG00140.hp2 HG00423.hp1 HG00544.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02698.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0005c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 others(40): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0051 a0001c0001t0133 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0002c0002t0040 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0003c0004t0003 a0003c0004t0004 a0003c0004t0155 a0005c0006t0125	a0001c0001t0003g0007 a0001c0001t0003g0257 a0001c0001t0003g0261 others(79): Show a0001c0001t0003g0007 a0001c0001t0003g0257 a0001c0001t0003g0261 a0001c0001t0003g0265 a0001c0001t0003g0271 a0001c0001t0003g0274 a0001c0001t0003g0280 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0302 a0001c0001t0003g0305 a0001c0001t0003g0309 a0001c0001t0004g0270 a0001c0001t0004g0272 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0286 a0001c0001t0004g0292 a0001c0001t0004g0295 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0011g0269 a0001c0001t0011g0278 a0001c0001t0011g0281 a0001c0001t0011g0290 a0001c0001t0011g0297 a0001c0001t0011g0315 a0001c0001t0017g0256 a0001c0001t0017g0307 a0001c0001t0017g0311 a0001c0001t0017g0321 a0001c0001t0020g0287 a0001c0001t0020g0304 a0001c0001t0020g0310 a0001c0001t0021g0296 a0001c0001t0021g0300 a0001c0001t0021g0301 a0001c0001t0031g0246 a0001c0001t0031g0247 a0001c0001t0035g0259 a0001c0001t0035g0306 a0001c0001t0036g0279 a0001c0001t0036g0293 a0001c0001t0037g0266 a0001c0001t0037g0314 a0001c0001t0038g0273 a0001c0001t0038g0313 a0001c0001t0051g0189 a0001c0001t0133g0202 a0001c0001t0140g0289 a0001c0001t0141g0277 a0001c0001t0142g0260 a0001c0001t0143g0291 a0001c0001t0144g0258 a0001c0001t0145g0276 a0001c0001t0146g0312 a0001c0001t0147g0267 a0001c0001t0148g0323 a0001c0001t0149g0268 a0001c0001t0150g0262 a0001c0001t0151g0263 a0001c0001t0152g0320 a0001c0001t0153g0319 a0001c0001t0154g0275 a0001c0001t0157g0255 a0001c0001t0158g0264 a0001c0001t0159g0324 a0002c0002t0040g0244 a0002c0002t0041g0239 a0002c0002t0042g0241 a0002c0002t0043g0242 a0002c0002t0044g0240 a0002c0002t0045g0243 a0002c0002t0046g0245 a0002c0002t0047g0249 a0003c0004t0003g0329 a0003c0004t0004g0327 a0003c0004t0004g0328 a0003c0004t0155g0326 a0005c0006t0125g0209	83	336	0.2470	-10	c.10 others(23): Show c.10448_*10457delCCCAGGCTGG	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding		4923		chr15	TogoVar
SPPL2A_chr15_50697266_50770706	50698903	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 NA18978.hp2 NA18992.hp2 others(1): Show HG01123.hp2 NA18978.hp2 NA18992.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0001c0001t0020 a0001c0001t0158 others(1): Show a0001c0001t0011 a0001c0001t0020 a0001c0001t0158 a0002c0002t0040	a0001c0001t0011g0315 a0001c0001t0020g0287 a0001c0001t0158g0264 others(1): Show a0001c0001t0011g0315 a0001c0001t0020g0287 a0001c0001t0158g0264 a0002c0002t0040g0244	4	336	0.0119	-10	c.88 others(21): Show c.8887_*8896delAAAAAAAAAA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding		3362		chr15	TogoVar
SPPL2A_chr15_50697266_50770706	50703337	TATATATA others(3): Show TATATATATAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG01515.hp2 HG01517.hp1 others(28): Show HG00408.hp1 HG01515.hp2 HG01517.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02486.hp1 HG03704.hp1 HG04115.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18947.hp1 NA18948.hp2 NA18959.hp2 NA18964.hp1 NA18969.hp2 NA18981.hp2 NA18982.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA19000.hp2 NA19004.hp1 NA19057.hp1 NA19058.hp1 NA19079.hp1 NA19087.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0016 others(8): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0016 a0001c0001t0039 a0001c0001t0121 a0001c0001t0123 a0001c0001t0127 a0001c0001t0128 a0001c0001t0130 a0001c0001t0162 a0001c0001t0163	a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0199 others(28): Show a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0014g0197 a0001c0001t0014g0207 a0001c0001t0014g0217 a0001c0001t0014g0221 a0001c0001t0014g0222 a0001c0001t0016g0194 a0001c0001t0016g0218 a0001c0001t0016g0225 a0001c0001t0016g0232 a0001c0001t0039g0206 a0001c0001t0121g0203 a0001c0001t0123g0210 a0001c0001t0127g0205 a0001c0001t0128g0227 a0001c0001t0130g0198 a0001c0001t0162g0322 a0001c0001t0163g0325	31	336	0.0923	-10	c.44 others(21): Show c.4453_*4462delGTATATATAT	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4453		chr15	TogoVar
SPPL2A_chr15_50697266_50770706	50703350	ATATATAT others(3): Show ATATATATTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG01169.hp1 others(1): Show HG01109.hp1 HG01168.hp1 HG01169.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0132 a0001c0001t0019 a0001c0001t0132	a0001c0001t0019g0191 a0001c0001t0019g0192 a0001c0001t0019g0195 others(1): Show a0001c0001t0019g0191 a0001c0001t0019g0192 a0001c0001t0019g0195 a0001c0001t0132g0212	4	336	0.0119	-10	c.44 others(21): Show c.4440_*4449delAAAATATATA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4440		chr15	TogoVar
SPPL2A_chr15_50697266_50770706	50739170	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	336	0.0030	-10	c.733 others(25): Show c.733+500_733+509delAAAAAAAAAA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	6/14			chr15	TogoVar
SPPL2B_chr19_2323684_2360095	2336280	GTGTGTCT others(3): Show GTGTGTCTGTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp2 HG06807.hp2 others(1): Show HG02258.hp1 HG02965.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0014 a0001c0004t0001g0099 a0001c0004t0001g0014 a0001c0004t0001g0099	4	414	0.0097	-10	c.187 others(27): Show c.187-1157_187-1148delCTGTATGTGT	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2348890	CTCCACAC others(3): Show CTCCACACACA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00735.hp1 others(38): Show HG00323.hp1 HG00639.hp2 HG00735.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01978.hp1 HG02004.hp1 HG02040.hp1 HG02273.hp2 HG02300.hp2 HG02602.hp2 HG02683.hp2 HG02738.hp2 HG03017.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18940.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18980.hp2 NA18990.hp1 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19057.hp2 NA19082.hp1 NA19082.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0006 a0005c0012	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0013 a0003c0006t0001 a0005c0012t0001	a0001c0001t0002g0049 a0001c0001t0002g0260 a0001c0001t0002g0273 others(31): Show a0001c0001t0002g0049 a0001c0001t0002g0260 a0001c0001t0002g0273 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0003t0001g0200 a0001c0004t0001g0003 a0001c0004t0001g0020 a0001c0004t0001g0053 a0001c0004t0001g0078 a0001c0004t0001g0080 a0001c0004t0001g0101 a0001c0004t0001g0103 a0001c0004t0001g0105 a0001c0004t0001g0106 a0001c0004t0001g0107 a0001c0004t0001g0117 a0001c0004t0001g0127 a0001c0004t0013g0020 a0001c0004t0013g0050 a0003c0006t0001g0003 a0003c0006t0001g0077 a0003c0006t0001g0079 a0003c0006t0001g0081 a0003c0006t0001g0082 a0003c0006t0001g0083 a0003c0006t0001g0084 a0003c0006t0001g0085 a0003c0006t0001g0137 a0003c0006t0001g0138 a0005c0012t0001g0100 a0005c0012t0001g0109 a0005c0012t0001g0110 a0005c0012t0001g0111	41	414	0.0990	-10	c.135 others(29): Show c.1355-2543_1355-2534delTCCACACACA	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14			chr19	TogoVar
SPPL3_chr12_120757510_120909358	120778111	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	320	0.0031	-10	c.502 others(27): Show c.502+4534_502+4543delAAAAAAAAAA	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	6/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120781555	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0102 a0001c0002t0005g0102	1	320	0.0031	-10	c.502 others(27): Show c.502+1090_502+1099delAAAAAAAAAA	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	6/10			chr12	TogoVar

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