Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SIK3_chr11_116838402_117103428	117016394	G G	GGGAGGGA others(13): Show GGGAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp2 HG02895.hp2 others(2): Show HG01243.hp2 HG01261.hp2 HG02895.hp2 HG03139.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0004 a0001c0002t0005 a0004c0006t0008 a0001c0001t0004 a0001c0002t0005 a0004c0006t0008	a0001c0001t0004g0129 a0001c0002t0005g0312 a0001c0002t0005g0339 others(2): Show a0001c0001t0004g0129 a0001c0002t0005g0312 a0001c0002t0005g0339 a0001c0002t0005g0345 a0004c0006t0008g0361	5	366	0.0137	20	c.274 others(39): Show c.274-59331_274-59330insTTCCTTCCTTCCTTCCCTCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117016394	G G	GGGAGGGA others(13): Show GGGAGGGAGGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03017.hp1 others(6): Show HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03704.hp2 HG04184.hp1 NA18522.hp2 NA18956.hp1 NA19030.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0004 a0001c0001t0011 a0002c0003t0008 others(1): Show a0001c0001t0004 a0001c0001t0011 a0002c0003t0008 a0002c0004t0006	a0001c0001t0004g0118 a0001c0001t0011g0034 a0001c0001t0011g0035 others(6): Show a0001c0001t0004g0118 a0001c0001t0011g0034 a0001c0001t0011g0035 a0001c0001t0011g0036 a0002c0003t0008g0355 a0002c0004t0006g0156 a0002c0004t0006g0157 a0002c0004t0006g0166 a0002c0004t0006g0365	9	366	0.0246	20	c.274 others(39): Show c.274-59331_274-59330insTTCCTTCCTTCCCTCCCTCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117016394	G G	GGGAGGGA others(13): Show GGGAGGGAGGGAGGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03486.hp1 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0027 a0001c0002t0005g0167 a0001c0002t0005g0027 a0001c0002t0005g0167	2	366	0.0055	20	c.274 others(39): Show c.274-59331_274-59330insTTCCTTCCCTCCCTCCCTCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117021928	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19090.hp1 HG02040.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0234 a0001c0001t0001g0191 a0001c0001t0001g0234	2	366	0.0055	20	c.274 others(39): Show c.274-64884_274-64865dupTTTTTTTTTTTTTTTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023619	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0155 a0002c0004t0006g0155	1	366	0.0027	20	c.274 others(39): Show c.274-66556_274-66555insATATATATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0007	1	366	0.0027	20	c.274 others(39): Show c.274-66558_274-66557insATATATATATATATATTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139057314	T T	TTAAAAAA others(13): Show TTAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp1 HG02257.hp2 others(2): Show HG00642.hp1 HG01346.hp1 HG02257.hp2 HG02970.hp2 HG03195.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0007c0011t0001 a0001c0001t0001 a0007c0011t0001	a0001c0001t0001g0023 a0001c0001t0001g0089 a0001c0001t0001g0094 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0168 a0007c0011t0001g0196	5	200	0.0250	20	c.245 others(37): Show c.245-6269_245-6268insTTTTTTTTTTTTTTTTTTTA	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	3/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139058970	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG01993.hp1 others(3): Show HG01109.hp2 HG01891.hp1 HG01993.hp1 HG02145.hp2 HG02895.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0006 a0001c0001 a0002c0003 a0002c0006	a0001c0001t0001 a0002c0003t0001 a0002c0006t0001 a0001c0001t0001 a0002c0003t0001 a0002c0006t0001	a0001c0001t0001g0030 a0001c0001t0001g0088 a0001c0001t0001g0133 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0088 a0001c0001t0001g0133 a0001c0001t0001g0166 a0002c0003t0001g0160 a0002c0006t0001g0097	6	200	0.0300	20	c.245 others(37): Show c.245-7925_245-7924insCACACACACACACACACACA	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	3/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139143340	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0196 a0007c0011t0001g0196	1	200	0.0050	20	c.-10 others(39): Show c.-10-15488_-10-15487insATATATATATATATATATAT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139143344	C C	CACACACA others(13): Show CACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	200	0.0050	20	c.-10 others(39): Show c.-10-15492_-10-15491insATATATATATATGTGTGTGT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139143344	C C	CACACATA others(13): Show CACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	200	0.0050	20	c.-10 others(39): Show c.-10-15492_-10-15491insATATATATATATATATGTGT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139155448	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03041.hp2 HG04204.hp2 others(3): Show HG01081.hp2 HG03041.hp2 HG04204.hp2 NA18965.hp2 NA18979.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0001g0174 others(3): Show a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0001g0174 a0001c0002t0001g0073 a0001c0002t0001g0099 a0001c0002t0001g0173	6	200	0.0300	20	c.-10 others(39): Show c.-10-27615_-10-27596dupTCTCTCTCTCTCTCTCTCTC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIM1_chr6_100380009_100469921	100418359	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02083.hp1 HG02257.hp2 others(5): Show HG01175.hp1 HG02083.hp1 HG02257.hp2 HG02559.hp1 HG03453.hp2 NA18970.hp2 NA18986.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0001t0027 a0001c0001t0070 a0001c0001t0073	a0001c0001t0002g0086 a0001c0001t0004g0111 a0001c0001t0004g0293 others(5): Show a0001c0001t0002g0086 a0001c0001t0004g0111 a0001c0001t0004g0293 a0001c0001t0008g0087 a0001c0001t0018g0311 a0001c0001t0027g0029 a0001c0001t0070g0177 a0001c0001t0073g0115	8	320	0.0250	20	c.116 others(39): Show c.1167+2411_1167+2430dupATTTATTTATTTATTTATTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100450696	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0227 a0001c0001t0006g0227	1	320	0.0031	20	c.259 others(35): Show c.259-341_259-340insTGTGTGTGAGAGAGAGAGAG	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	3/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100458006	T T	TTCTCTCT others(13): Show TTCTCTCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0222 a0002c0002t0001g0222	1	320	0.0031	20	c.176 others(37): Show c.176-4163_176-4162insGAGAGAGAGGGAGAGAGAGA	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	2/11			chr6	TogoVar
SIM2_chr21_36694115_36754917	36737961	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01258.hp1 others(9): Show HG00621.hp2 HG00673.hp2 HG01258.hp1 HG03239.hp2 NA18939.hp1 NA18941.hp2 NA18954.hp1 NA18965.hp2 NA18980.hp2 NA19082.hp2 NA19087.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0002t0002 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0002t0002 a0001c0002t0023	a0001c0001t0004g0027 a0001c0001t0004g0035 a0001c0001t0004g0074 others(9): Show a0001c0001t0004g0027 a0001c0001t0004g0035 a0001c0001t0004g0074 a0001c0001t0004g0084 a0001c0001t0004g0106 a0001c0001t0004g0238 a0001c0001t0004g0243 a0001c0001t0004g0251 a0001c0001t0008g0179 a0001c0001t0008g0193 a0001c0002t0002g0212 a0001c0002t0023g0165	12	410	0.0293	20	c.851 others(37): Show c.851-3754_851-3735dupAAAAAAAAAAAAAAAAAAAA	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIM2_chr21_36694115_36754917	36740009	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0279 a0001c0001t0004g0279	1	410	0.0024	20	c.851 others(37): Show c.851-1676_851-1657dupAAGAAAGAAAGAAAGAAAGA	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIN3B_chr19_16824398_16885349	16857553	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	372	0.0027	20	c.105 others(39): Show c.1058+3293_1058+3294insGTGTGTGTGTGTGTGTGTAT	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SINHCAF_chr12_31275584_31331150	31285418	T T	TATACACA others(13): Show TATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03492.hp1 HG00408.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0263 a0001c0001t0002g0264	2	349	0.0057	20	c.506 others(37): Show c.506+2215_506+2216insGTGTGTGTGTGTGTGTGTAT	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding	5/5			chr12	TogoVar
SIPA1L1_chr14_71315476_71746209	71356567	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18965.hp1 homoSapiens_chm13v2.hp1 HG01256.hp1 NA18965.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0001c0001t0001 a0001c0001t0002 a0001c0011t0001	a0001c0001t0001g0026 a0001c0001t0002g0062 a0001c0011t0001g0119 a0001c0001t0001g0026 a0001c0001t0002g0062 a0001c0011t0001g0119	3	174	0.0172	20	c.-46 others(41): Show c.-465+35387_-465+35406dupAAAAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71417469	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	174	0.0058	20	c.-46 others(41): Show c.-464-95259_-464-95240dupAAAAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71446894	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG04184.hp2 HG01361.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0123 a0001c0002t0001g0124	2	174	0.0115	20	c.-46 others(41): Show c.-464-65838_-464-65837insTTTTTTTTTTTTTTTTTTTT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71491761	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19030.hp2 NA19009.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0146 a0001c0001t0002g0074 a0001c0001t0001g0146 a0001c0001t0002g0074	2	174	0.0115	20	c.-46 others(41): Show c.-464-20949_-464-20930dupACACACACACACACACACAC	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71502253	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	174	0.0058	20	c.-46 others(41): Show c.-464-10489_-464-10488insTATATATATATATATATATA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71633110	T T	TTGTTATG others(13): Show TTGTTATGTTATGTTATGTTA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0142 a0001c0002t0006g0142	1	174	0.0058	20	c.181 others(39): Show c.1818+8904_1818+8923dupATGTTATGTTATGTTATGTT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71742353	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18993.hp2 NA18965.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0091 a0001c0011t0001g0119 a0001c0001t0001g0091 a0001c0011t0001g0119	2	174	0.0115	20	c.31 others(31): Show c.3192_*3193insAAAAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding		1145		chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232528102	A A	ATATATAT others(13): Show ATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02717.hp2 HG03927.hp2 HG01978.hp1 HG02717.hp2 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0007 a0002c0008 a0001c0005 a0002c0007 a0002c0008	a0001c0005t0003 a0002c0007t0001 a0002c0008t0006 a0001c0005t0003 a0002c0007t0001 a0002c0008t0006	a0001c0005t0003g0262 a0002c0007t0001g0129 a0002c0008t0006g0014 a0001c0005t0003g0262 a0002c0007t0001g0129 a0002c0008t0006g0014	3	292	0.0103	20	c.-26 others(41): Show c.-269-12495_-269-12494insGATATATATATATATATATA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232541247	T T	TTAACATA others(13): Show TTAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18978.hp1 NA19007.hp1 NA18939.hp2 NA18978.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0183 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0001g0183 a0001c0001t0003g0230 a0001c0001t0003g0231	3	292	0.0103	20	c.-26 others(41): Show c.-269-25659_-269-25640dupTGTTATGTTATGTTATGTTA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232541933	A A	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0280 a0001c0001t0023g0280	1	292	0.0034	20	c.-26 others(41): Show c.-269-26326_-269-26325insGAGAGAGAGAGAGAGAGAGA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp2 HG02723.hp2 others(6): Show HG02145.hp1 HG02717.hp2 HG02723.hp2 HG02922.hp2 HG03130.hp2 HG03486.hp2 HG03579.hp2 HG03710.hp1 NA19007.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0004 a0001c0006t0010 a0002c0002t0001 a0003c0005t0003	a0001c0001t0002g0056 a0001c0001t0002g0087 a0001c0001t0004g0127 others(6): Show a0001c0001t0002g0056 a0001c0001t0002g0087 a0001c0001t0004g0127 a0001c0001t0005g0071 a0001c0003t0004g0124 a0001c0006t0010g0085 a0002c0002t0001g0083 a0002c0002t0001g0088 a0003c0005t0003g0110	9	164	0.0549	20	c.-37 others(41): Show c.-379+30387_-379+30406dupAAAAAAAAAAAAAAAAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	37992060	T T	TCCTCGTG others(13): Show TCCTCGTGGGAGGCAGTGTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(147): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0018 a0019 a0020 a0021 a0022 a0024	a0001c0001 a0001c0003 a0001c0004 others(33): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0025 a0001c0026 a0001c0030 a0001c0032 a0001c0033 a0002c0002 a0002c0014 a0002c0015 a0002c0020 a0003c0005 a0003c0012 a0004c0011 a0004c0039 a0004c0040 a0005c0007 a0005c0017 a0006c0010 a0007c0008 a0008c0009 a0009c0018 a0010c0013 a0011c0016 a0012c0021 a0013c0036 a0014c0031 a0015c0034 a0018c0024 a0019c0027 a0020c0037 a0021c0023 a0022c0022 a0024c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0004t0003 a0001c0004t0013 a0001c0006t0009 a0001c0006t0010 a0001c0025t0005 a0001c0026t0004 a0001c0030t0001 a0001c0032t0003 a0001c0033t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0015 a0002c0002t0020 a0002c0014t0001 a0002c0014t0014 a0002c0015t0004 a0002c0015t0018 a0002c0020t0001 a0003c0005t0003 a0003c0005t0011 a0003c0012t0003 a0004c0011t0001 a0004c0011t0004 a0004c0011t0006 a0004c0039t0001 a0004c0040t0004 a0005c0007t0002 a0005c0017t0002 a0005c0017t0006 a0006c0010t0004 a0007c0008t0002 a0007c0008t0008 a0008c0009t0001 a0008c0009t0007 a0009c0018t0004 a0009c0018t0016 a0010c0013t0001 a0011c0016t0002 a0011c0016t0004 a0012c0021t0003 a0013c0036t0004 a0014c0031t0004 a0015c0034t0001 a0018c0024t0002 a0019c0027t0003 a0020c0037t0001 a0021c0023t0002 a0022c0022t0001 a0024c0029t0002	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0097 others(147): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0134 a0001c0001t0001g0156 a0001c0001t0002g0039 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0067 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0139 a0001c0001t0002g0159 a0001c0001t0004g0021 a0001c0001t0004g0036 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0127 a0001c0001t0005g0037 a0001c0001t0005g0046 a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0096 a0001c0001t0005g0115 a0001c0001t0005g0122 a0001c0001t0005g0152 a0001c0001t0006g0007 a0001c0001t0006g0010 a0001c0001t0006g0024 a0001c0001t0006g0052 a0001c0001t0006g0062 a0001c0001t0006g0072 a0001c0001t0012g0103 a0001c0001t0017g0069 a0001c0001t0019g0022 a0001c0001t0021g0045 a0001c0001t0023g0078 a0001c0001t0024g0077 a0001c0001t0025g0095 a0001c0003t0001g0092 a0001c0003t0001g0144 a0001c0003t0001g0151 a0001c0003t0004g0026 a0001c0003t0004g0091 a0001c0003t0004g0111 a0001c0003t0004g0112 a0001c0003t0004g0124 a0001c0003t0005g0073 a0001c0003t0007g0043 a0001c0003t0007g0068 a0001c0003t0007g0120 a0001c0003t0007g0148 a0001c0003t0007g0153 a0001c0004t0003g0032 a0001c0004t0003g0033 a0001c0004t0003g0070 a0001c0004t0003g0100 a0001c0004t0003g0158 a0001c0004t0013g0089 a0001c0006t0009g0140 a0001c0006t0009g0141 a0001c0006t0010g0084 a0001c0006t0010g0085 a0001c0025t0005g0155 a0001c0026t0004g0157 a0001c0030t0001g0080 a0001c0032t0003g0023 a0001c0033t0005g0131 a0002c0002t0001g0014 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0074 a0002c0002t0001g0083 a0002c0002t0001g0088 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0002g0028 a0002c0002t0002g0051 a0002c0002t0003g0017 a0002c0002t0003g0025 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0053 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0086 a0002c0002t0003g0094 a0002c0002t0003g0106 a0002c0002t0003g0116 a0002c0002t0003g0147 a0002c0002t0008g0031 a0002c0002t0008g0082 a0002c0002t0015g0117 a0002c0002t0020g0038 a0002c0014t0001g0149 a0002c0014t0014g0035 a0002c0015t0004g0076 a0002c0015t0018g0108 a0002c0020t0001g0133 a0003c0005t0003g0110 a0003c0005t0003g0138 a0003c0005t0011g0029 a0003c0005t0011g0163 a0003c0012t0003g0160 a0003c0012t0003g0161 a0004c0011t0001g0162 a0004c0011t0004g0102 a0004c0011t0006g0142 a0004c0039t0001g0123 a0004c0040t0004g0040 a0005c0007t0002g0090 a0005c0007t0002g0126 a0005c0007t0002g0150 a0005c0017t0002g0118 a0005c0017t0006g0093 a0006c0010t0004g0012 a0006c0010t0004g0013 a0007c0008t0002g0135 a0007c0008t0002g0137 a0007c0008t0008g0002 a0008c0009t0001g0011 a0008c0009t0007g0020 a0008c0009t0007g0034 a0009c0018t0004g0018 a0009c0018t0016g0154 a0010c0013t0001g0050 a0010c0013t0001g0128 a0011c0016t0002g0006 a0011c0016t0004g0004 a0012c0021t0003g0015 a0013c0036t0004g0057 a0014c0031t0004g0027 a0015c0034t0001g0081 a0018c0024t0002g0119 a0019c0027t0003g0075 a0020c0037t0001g0129 a0021c0023t0002g0019 a0022c0022t0001g0030 a0024c0029t0002g0121	150	164	0.9146	20	c.-37 others(41): Show c.-378-37027_-378-37026insTCGTGGGAGGCAGTGTCACC	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38030623	A A	AATACATA others(13): Show AATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02280.hp1 others(12): Show HG01109.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp1 HG02886.hp2 HG02896.hp1 HG03130.hp2 HG03225.hp1 HG03486.hp1 HG06807.hp1 NA18950.hp2 NA18954.hp1 NA18962.hp2 NA19009.hp1 NA19010.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0008 a0021	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0005c0007 a0007c0008 a0008c0009 a0021c0023	a0001c0001t0002 a0001c0003t0007 a0001c0004t0003 others(7): Show a0001c0001t0002 a0001c0003t0007 a0001c0004t0003 a0002c0002t0003 a0002c0002t0008 a0005c0007t0002 a0007c0008t0008 a0008c0009t0001 a0008c0009t0007 a0021c0023t0002	a0001c0001t0002g0055 a0001c0001t0002g0087 a0001c0001t0002g0098 others(12): Show a0001c0001t0002g0055 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0130 a0001c0001t0002g0159 a0001c0003t0007g0148 a0001c0004t0003g0100 a0002c0002t0003g0147 a0002c0002t0008g0031 a0005c0007t0002g0126 a0007c0008t0008g0002 a0008c0009t0001g0011 a0008c0009t0007g0020 a0008c0009t0007g0034 a0021c0023t0002g0019	15	164	0.0915	20	c.-31 others(39): Show c.-311+1470_-311+1471insCATATATATATATATATATA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38065834	C C	CTATTTAT others(13): Show CTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03453.hp2 HG02257.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0109 a0001c0001t0002g0039 a0001c0001t0002g0109	2	164	0.0122	20	c.-31 others(41): Show c.-310-15412_-310-15393dupATTTATTTATTTATTTATTT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38065915	C C	CTATCTAT others(13): Show CTATCTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02109.hp1 HG02145.hp1 others(6): Show HG00140.hp2 HG02109.hp1 HG02145.hp1 HG02622.hp1 HG03041.hp1 HG03225.hp2 HG03516.hp2 NA18979.hp1 NA20300.hp2	a0001 a0002 a0020 a0001 a0002 a0020	a0001c0001 a0001c0030 a0002c0002 others(2): Show a0001c0001 a0001c0030 a0002c0002 a0002c0014 a0020c0037	a0001c0001t0005 a0001c0030t0001 a0002c0002t0001 others(2): Show a0001c0001t0005 a0001c0030t0001 a0002c0002t0001 a0002c0014t0014 a0020c0037t0001	a0001c0001t0005g0115 a0001c0030t0001g0080 a0002c0002t0001g0014 others(6): Show a0001c0001t0005g0115 a0001c0030t0001g0080 a0002c0002t0001g0014 a0002c0002t0001g0058 a0002c0002t0001g0083 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0014t0014g0035 a0020c0037t0001g0129	9	164	0.0549	20	c.-31 others(41): Show c.-310-15338_-310-15337insCTATTTATTTATTTATTTAT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38070191	C C	CCTATCTA others(13): Show CCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01361.hp1 others(33): Show HG00140.hp2 HG01109.hp1 HG01361.hp1 HG01515.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19009.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0021	a0001c0001 a0001c0004 a0002c0002 others(6): Show a0001c0001 a0001c0004 a0002c0002 a0002c0015 a0003c0005 a0003c0012 a0004c0011 a0005c0007 a0021c0023	a0001c0001t0002 a0001c0001t0005 a0001c0004t0003 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0004t0003 a0001c0004t0013 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0020 a0002c0015t0018 a0003c0005t0011 a0003c0012t0003 a0004c0011t0001 a0005c0007t0002 a0021c0023t0002	a0001c0001t0002g0056 a0001c0001t0002g0079 a0001c0001t0002g0087 others(33): Show a0001c0001t0002g0056 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0159 a0001c0001t0005g0115 a0001c0004t0003g0070 a0001c0004t0013g0089 a0002c0002t0001g0014 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0083 a0002c0002t0001g0088 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0002g0028 a0002c0002t0003g0017 a0002c0002t0003g0053 a0002c0002t0003g0063 a0002c0002t0003g0065 a0002c0002t0003g0147 a0002c0002t0008g0082 a0002c0002t0020g0038 a0002c0015t0018g0108 a0003c0005t0011g0029 a0003c0005t0011g0163 a0003c0012t0003g0160 a0003c0012t0003g0161 a0004c0011t0001g0162 a0005c0007t0002g0126 a0021c0023t0002g0019	36	164	0.2195	20	c.-31 others(41): Show c.-310-11052_-310-11033dupCTATCTATCTATCTATCTAT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38138910	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01361.hp1 HG02145.hp1 others(3): Show HG01168.hp2 HG01361.hp1 HG02145.hp1 HG03540.hp1 NA18906.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0003 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0004t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0020	a0001c0004t0003g0033 a0002c0002t0001g0083 a0002c0002t0001g0145 others(3): Show a0001c0004t0003g0033 a0002c0002t0001g0083 a0002c0002t0001g0145 a0002c0002t0003g0106 a0002c0002t0003g0147 a0002c0002t0020g0038	6	164	0.0366	20	c.314 others(39): Show c.3144-2269_3144-2268insAAAAAAAACAAAAACAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38196615	A A	AGAGCGTG others(13): Show AGAGCGTGGAGGTCAAGGGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	164	0.0061	20	c.484 others(39): Show c.4841-1770_4841-1769insGTGGAGGTCAAGGGAGGAGC	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1_chr11_65633101_65655912	65642901	C C	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG02809.hp1 others(4): Show HG02572.hp2 HG02615.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 NA19056.hp2 NA19088.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0021 a0001c0001 a0002c0002 a0007c0021	a0001c0001t0005 a0002c0002t0001 a0007c0021t0005 a0001c0001t0005 a0002c0002t0001 a0007c0021t0005	a0001c0001t0005g0017 a0001c0001t0005g0077 a0002c0002t0001g0081 others(2): Show a0001c0001t0005g0017 a0001c0001t0005g0077 a0002c0002t0001g0081 a0002c0002t0001g0082 a0007c0021t0005g0017	7	406	0.0172	20	c.984 others(35): Show c.984+274_984+293dupATTTATTTATTTATTTATTT	SIPA1	ENSG00000213445.10	transcript	ENST00000534313.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIPA1_chr11_65633101_65655912	65642901	C C	CTTTCTTT others(13): Show CTTTCTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	406	0.0025	20	c.984 others(35): Show c.984+265_984+266insCTTTATTTATTTATTTATTT	SIPA1	ENSG00000213445.10	transcript	ENST00000534313.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIRPB1_chr20_1556385_1625009	1559135	G G	GTATATAT others(13): Show GTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0210 a0004c0004t0005g0210	1	364	0.0028	20	c.63 others(31): Show c.6364_*6365insTATATATATATATATATATA	SIRPB1	ENSG00000101307.16	transcript	ENST00000381605.9	protein_coding		2249		chr20	TogoVar
SIRPD_chr20_1529251_1562705	1559135	G G	GTATATAT others(13): Show GTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0145 a0001c0004t0001g0145	1	390	0.0026	20	c.-14 others(31): Show c.-1483_-1482insTATATATATATATATATATA	SIRPD	ENSG00000125900.13	transcript	ENST00000381623.4	protein_coding		1431		chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650002	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01361.hp2 HG01496.hp2 others(9): Show HG01257.hp2 HG01361.hp2 HG01496.hp2 HG02004.hp1 HG02004.hp2 HG02148.hp1 HG03130.hp2 HG03195.hp2 NA18940.hp2 NA18954.hp2 NA18971.hp2 NA19009.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0001c0006 a0001c0018 others(2): Show a0001c0004 a0001c0006 a0001c0018 a0002c0002 a0004c0008	a0001c0004t0004 a0001c0006t0002 a0001c0018t0001 others(2): Show a0001c0004t0004 a0001c0006t0002 a0001c0018t0001 a0002c0002t0003 a0004c0008t0003	a0001c0004t0004g0247 a0001c0006t0002g0248 a0001c0018t0001g0097 others(5): Show a0001c0004t0004g0247 a0001c0006t0002g0248 a0001c0018t0001g0097 a0002c0002t0003g0005 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0096 a0004c0008t0003g0095	12	396	0.0303	20	c.74- others(33): Show c.74-595_74-594insTATATATATATATATATATA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650004	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0049 a0007c0015t0001g0049	1	396	0.0025	20	c.74- others(33): Show c.74-597_74-596insTATATATATATATATATACA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRT3_chr11_210030_241342	234403	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02572.hp1 HG02717.hp2 others(3): Show HG01192.hp2 HG02572.hp1 HG02717.hp2 HG03139.hp2 HG03516.hp1 HG03540.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0015 a0004c0004 a0008c0015	a0004c0004t0003 a0008c0015t0003 a0004c0004t0003 a0008c0015t0003	a0004c0004t0003g0059 a0004c0004t0003g0223 a0004c0004t0003g0224 others(2): Show a0004c0004t0003g0059 a0004c0004t0003g0223 a0004c0004t0003g0224 a0004c0004t0003g0226 a0008c0015t0003g0225	6	414	0.0145	20	c.282 others(35): Show c.282-889_282-870dupCAAAACAAAACAAAACAAAA	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	1/6			chr11	TogoVar
SIRT6_chr19_4169109_4187563	4182965	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02074.hp2 NA18957.hp2 HG00099.hp2 HG02074.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0002g0005 a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0002g0005	3	410	0.0073	20	c.-44 others(29): Show c.-446_-427dupCACACACACACACACACACA	SIRT6	ENSG00000077463.15	transcript	ENST00000337491.7	protein_coding		403		chr19	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02071.hp2 others(10): Show HG01168.hp1 HG01169.hp1 HG02071.hp2 HG02165.hp2 HG02273.hp2 HG02738.hp2 HG02976.hp2 HG03669.hp1 NA18955.hp1 NA18977.hp2 NA18986.hp1 NA19003.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0006g0015	13	434	0.0300	20	c.21 others(31): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SI_chr3_164973898_165083496	164989389	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0195 a0003c0003t0001g0195	1	266	0.0038	20	c.510 others(39): Show c.5108+1944_5108+1963dupTCTTTCTTTCTTTCTTTCTT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	44/47			chr3	TogoVar
SI_chr3_164973898_165083496	164989443	A A	AAGAAGAG others(13): Show AAGAAGAGAGGAGAGGAGAGG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	266	0.0038	20	c.510 others(39): Show c.5108+1890_5108+1909dupCCTCTCCTCTCCTCTCTTCT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	44/47			chr3	TogoVar
SI_chr3_164973898_165083496	165029568	G G	GTGTATAT others(13): Show GTGTATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp2 HG03471.hp2 HG03579.hp2	a0004 a0018 a0004 a0018	a0004c0029 a0018c0032 a0004c0029 a0018c0032	a0004c0029t0009 a0018c0032t0003 a0004c0029t0009 a0018c0032t0003	a0004c0029t0009g0108 a0018c0032t0003g0200 a0004c0029t0009g0108 a0018c0032t0003g0200	2	266	0.0075	20	c.289 others(39): Show c.2892+1124_2892+1143dupTATATATGTATATATATACA	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	25/47			chr3	TogoVar
SI_chr3_164973898_165083496	165065464	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp1 HG01433.hp2 others(8): Show HG01106.hp2 HG01192.hp1 HG01433.hp2 HG01952.hp1 HG02723.hp1 HG06807.hp2 NA18945.hp1 NA18975.hp2 NA18995.hp2 NA19060.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0004c0004t0004 a0001c0001t0001 a0001c0001t0003 a0004c0004t0004	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0080 others(8): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0001g0142 a0001c0001t0003g0101 a0004c0004t0004g0083 a0004c0004t0004g0096	11	266	0.0414	20	c.636 others(33): Show c.636-52_636-33dupATATATATATATATATATAT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	6/47			chr3	TogoVar

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