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
SIAH3_chr13_45772242_45856753	45843034	C C	CTCTCTGT others(25): Show CTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp2 HG01256.hp2 others(7): Show HG01123.hp1 HG01167.hp2 HG01256.hp2 HG01943.hp2 HG01993.hp2 HG02273.hp1 NA18953.hp1 NA18965.hp2 NA18992.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0075 a0001c0001t0104	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(7): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0004g0084 a0001c0001t0005g0074 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0087 a0001c0001t0075g0085 a0001c0001t0104g0086	10	83	0.1205	32	c.135 others(49): Show c.135+8460_135+8461insCACACACACACACACACACACACACACA GAGA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIDT1_chr3_113527555_113634575	113620025	T T	TTAGATAG others(25): Show TTAGATAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02300.hp2 NA18969.hp1 others(1): Show HG01952.hp1 HG02300.hp2 NA18969.hp1 NA18986.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0047 a0001c0007t0001g0054 a0001c0007t0001g0060 others(1): Show a0001c0007t0001g0047 a0001c0007t0001g0054 a0001c0007t0001g0060 a0001c0007t0001g0281	4	308	0.0130	32	c.209 others(49): Show c.2090+320_2090+321insAGATAGATAGATAGATAGATAGATAGAT AGAT	SIDT1	ENSG00000072858.11	transcript	ENST00000264852.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SIGIRR_chr11_400716_419999	400883	C C	CACCCGCC others(25): Show CACCCGCCCCGCTCACACCCGGCCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	237	0.0042	32	c.50 others(43): Show c.5012_*5013insTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4832		chr11	TogoVar
SIGIRR_chr11_400716_419999	400887	C C	CGCCCCGC others(25): Show CGCCCCGCTCACACCCGGCCCCGCTCACACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	165	0.0061	32	c.50 others(43): Show c.5008_*5009insCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4828		chr11	TogoVar
SIGIRR_chr11_400716_419999	400961	A A	ACCCGCCC others(25): Show ACCCGCCCCCGCTCACACCCCGCCCCGCTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	182	0.0055	32	c.49 others(43): Show c.4934_*4935insGGTGAGCGGGGCGGGGTGTGAGCGGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4754		chr11	TogoVar
SIGIRR_chr11_400716_419999	401213	G G	GCCCCGCT others(25): Show GCCCCGCTCACCCCCCGCCCCGCTCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	237	0.0042	32	c.46 others(43): Show c.4682_*4683insGCGGGTGTGAGCGGGGCGGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4502		chr11	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCCGCT others(25): Show GCCCCGCTCACACCCGCCCCGCTCACCCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	67	0.0149	32	c.43 others(43): Show c.4343_*4344insGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SIGIRR_chr11_400716_419999	402628	C C	CGGCTCCA others(25): Show CGGCTCCACTGACCCCGGCCCCGCTCACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	120	0.0083	32	c.32 others(43): Show c.3267_*3268insCGGGGGTGAGCGGGGCCGGGGTCAGTGGAGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3087		chr11	TogoVar
SIGIRR_chr11_400716_419999	402659	G G	GCCCCGCT others(25): Show GCCCCGCTCACCCCGCCCCGCCCCGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0053 a0008c0013t0001g0053	1	169	0.0059	32	c.32 others(43): Show c.3236_*3237insGAGCGGGGCGGGGCGGGGCGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3056		chr11	TogoVar
SIGIRR_chr11_400716_419999	403015	C C	CCCCGGAC others(25): Show CCCCGGACCCCGCTCACCCCCGCCCCACTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00735.hp2 others(21): Show HG00323.hp2 HG00597.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01346.hp2 HG01358.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG02074.hp1 HG02148.hp2 HG02273.hp2 HG03017.hp1 HG03492.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp2 NA18612.hp2 NA18971.hp2 NA18983.hp2 NA19065.hp1 NA20752.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0003c0005 a0005c0009 others(1): Show a0001c0001 a0003c0005 a0005c0009 a0008c0013	a0001c0001t0001 a0001c0001t0004 a0003c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0003c0005t0001 a0005c0009t0001 a0008c0013t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0024 others(20): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0155 a0001c0001t0004g0100 a0003c0005t0001g0032 a0003c0005t0001g0062 a0003c0005t0001g0072 a0003c0005t0001g0073 a0003c0005t0001g0076 a0003c0005t0001g0082 a0005c0009t0001g0067 a0005c0009t0001g0071 a0008c0013t0001g0053	24	175	0.1371	32	c.28 others(43): Show c.2880_*2881insTGTGAGTGGGGCGGGGGTGAGCGGGGTCCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2700		chr11	TogoVar
SIK2_chr11_111597449_111735855	111628083	T T	TCCTCAGT others(25): Show TCCTCAGTTTGCAAATAGGGTAGCTGCCCTAAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	196	0.0051	32	c.316 others(49): Show c.316+7682_316+7713dupCCTCAGTTTGCAAATAGGGTAGCTGCCC TAAG	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK2_chr11_111597449_111735855	111628416	A A	ATCTTTCT others(25): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01257.hp1 others(6): Show HG00140.hp2 HG01070.hp1 HG01257.hp1 HG01258.hp2 HG01943.hp1 HG02293.hp1 HG02717.hp1 HG03195.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0037 a0001c0001t0039 a0001c0001t0061	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0008g0042 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0008g0042 a0001c0001t0008g0049 a0001c0001t0011g0027 a0001c0001t0011g0029 a0001c0001t0037g0028 a0001c0001t0039g0059 a0001c0001t0061g0018	9	31	0.2903	32	c.316 others(49): Show c.316+8020_316+8051dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK3_chr11_116838402_117103428	116947120	T T	TATATATA others(25): Show TATATATAATATATAAATTATTATTTATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01106.hp2 others(1): Show HG00735.hp2 HG01069.hp1 HG01106.hp2 HG02148.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0337 a0002c0003t0001g0338 a0002c0003t0001g0341 others(1): Show a0002c0003t0001g0337 a0002c0003t0001g0338 a0002c0003t0001g0341 a0002c0003t0001g0342	4	313	0.0128	32	c.454 others(49): Show c.454+6892_454+6923dupTATATATAAATAATAATTTATATATTAT ATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013902	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19087.hp1 HG02523.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0140 a0001c0001t0022g0159 a0001c0001t0003g0140 a0001c0001t0022g0159	2	362	0.0055	32	c.274 others(51): Show c.274-56839_274-56838insTACACACACACACACACACACACACA CACACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013904	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	358	0.0028	32	c.274 others(51): Show c.274-56841_274-56840insTACACACACACACACACACACACACA CACACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117016394	G G	GGGAAGGA others(25): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	60	0.0167	32	c.274 others(51): Show c.274-59362_274-59331dupTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117016394	G G	GGGAGGGA others(25): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0129 a0011c0015t0001g0129	1	60	0.0167	32	c.274 others(51): Show c.274-59331_274-59330insTTCCTTCCTTCCTTCCTTCCTTCCCT CCCTCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117016394	G G	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0046 a0001c0002t0004g0046	1	60	0.0167	32	c.274 others(51): Show c.274-59331_274-59330insTTCCTTCCTTCCTTCCTTCCCTCCCT CCCTCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117016394	G G	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03490.hp2 HG03492.hp1 HG02280.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0162 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0162	3	62	0.0484	32	c.274 others(51): Show c.274-59331_274-59330insTTCCTTCCTTCCTTCCCTCCCTCCCT CCCTCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117016394	G G	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02080.hp2 HG02129.hp1 others(8): Show HG02040.hp1 HG02080.hp2 HG02129.hp1 NA18947.hp2 NA18948.hp2 NA18957.hp2 NA18974.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0001 a0001c0001t0003 a0001c0001t0021	a0001c0001t0001g0070 a0001c0001t0003g0069 a0001c0001t0003g0137 others(8): Show a0001c0001t0001g0070 a0001c0001t0003g0069 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0144 a0001c0001t0003g0160 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0172 a0001c0001t0021g0136	11	70	0.1571	32	c.274 others(51): Show c.274-59331_274-59330insTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117016394	G G	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	60	0.0167	32	c.274 others(51): Show c.274-59331_274-59330insTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(25): Show TATATATATATACATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0315 a0002c0003t0007g0316 a0002c0003t0007g0315 a0002c0003t0007g0316	2	230	0.0087	32	c.274 others(51): Show c.274-63183_274-63182insGTGTGTATATATATATATATGTATAT ATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0049 a0001c0002t0004g0049	1	229	0.0044	32	c.274 others(51): Show c.274-63183_274-63182insGTGTATATATATATATATATATATAT ATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG04199.hp1 NA18965.hp1 HG01074.hp1 HG04199.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0130 a0001c0001t0003g0169 a0001c0002t0004g0054 a0001c0001t0003g0130 a0001c0001t0003g0169 a0001c0002t0004g0054	3	231	0.0130	32	c.274 others(51): Show c.274-63183_274-63182insGTATATATATATATATATATATATAT ATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117021928	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	30	0.0333	32	c.274 others(51): Show c.274-64896_274-64865dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139155448	T T	TGAGAGAG others(25): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03942.hp1 NA18980.hp2 others(1): Show HG01516.hp2 HG03942.hp1 NA18980.hp2 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0009c0013t0001 a0001c0001t0001 a0009c0013t0001	a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0062 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0062 a0009c0013t0001g0045	4	120	0.0333	32	c.-10 others(51): Show c.-10-27596_-10-27595insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SINHCAF_chr12_31275584_31331150	31328401	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0304 a0001c0001t0004g0304	1	247	0.0040	32	c.-23 others(43): Show c.-2399_-2398insATATATATATATATATATTTTTTTTTTTTTTT	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding		2252		chr12	TogoVar
SIPA1L1_chr14_71315476_71746209	71446894	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	90	0.0111	32	c.-46 others(53): Show c.-464-65838_-464-65837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232528102	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02486.hp1 HG03688.hp2 others(4): Show HG01081.hp2 HG02486.hp1 HG03688.hp2 NA18942.hp2 NA18999.hp2 NA19000.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0017 a0002c0007 others(2): Show a0001c0003 a0001c0017 a0002c0007 a0002c0012 a0003c0013	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0017t0005 a0002c0007t0001 a0002c0012t0001 a0003c0013t0001	a0001c0003t0001g0227 a0001c0003t0002g0024 a0001c0003t0006g0013 others(4): Show a0001c0003t0001g0227 a0001c0003t0002g0024 a0001c0003t0006g0013 a0001c0017t0005g0073 a0002c0007t0001g0200 a0002c0012t0001g0171 a0003c0013t0001g0190	7	69	0.1014	32	c.-26 others(53): Show c.-269-12495_-269-12494insGATATATATATATATATATATATA TATATATA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0020 a0020	a0020c0037 a0020c0037	a0020c0037t0001 a0020c0037t0001	a0020c0037t0001g0129 a0020c0037t0001g0129	1	44	0.0227	32	c.-37 others(53): Show c.-379+30406_-379+30407insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	37968063	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02132.hp2 HG02148.hp1 others(4): Show HG01952.hp1 HG02132.hp2 HG02148.hp1 HG02622.hp1 NA18945.hp2 NA18948.hp2 NA19074.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0020	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0004c0011 a0020c0037	a0001c0001t0001 a0001c0001t0006 a0001c0003t0004 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0004 a0002c0002t0003 a0004c0011t0004 a0020c0037t0001	a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0006g0024 others(4): Show a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0006g0024 a0001c0003t0004g0026 a0002c0002t0003g0025 a0004c0011t0004g0102 a0020c0037t0001g0129	7	83	0.0843	32	c.-37 others(53): Show c.-379+60730_-379+60731insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	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(25): Show AATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0018 a0002c0015t0018	a0002c0015t0018g0115 a0002c0015t0018g0115	1	111	0.0090	32	c.-31 others(51): Show c.-311+1470_-311+1471insCATATATATATATATATATATATATA TATATA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRPB1_chr20_1556385_1625009	1559135	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0007 a0003c0003t0005g0007	1	292	0.0034	32	c.63 others(43): Show c.6364_*6365insTATATATATATATATATATATATATATATATA	SIRPB1	ENSG00000101307.16	transcript	ENST00000381605.9	protein_coding		2249		chr20	TogoVar
SIRPD_chr20_1529251_1562705	1559135	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0147 a0001c0004t0001g0147	1	318	0.0031	32	c.-14 others(43): Show c.-1483_-1482insTATATATATATATATATATATATATATATATA	SIRPD	ENSG00000125900.13	transcript	ENST00000381623.4	protein_coding		1431		chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650002	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG01070.hp2 others(7): Show HG00438.hp1 HG00544.hp1 HG01070.hp2 HG02965.hp1 HG03710.hp1 NA18939.hp2 NA18946.hp1 NA19010.hp2 NA19011.hp2 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007	a0002c0002t0001g0120 a0002c0002t0003g0009 a0002c0002t0003g0070 others(4): Show a0002c0002t0001g0120 a0002c0002t0003g0009 a0002c0002t0003g0070 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0007g0253	10	145	0.0690	32	c.74- others(45): Show c.74-595_74-594insTATATATATATATATATATATATATATATATA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650002	G G	GTATGTAT others(25): Show GTATGTATGTATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0097 a0002c0002t0003g0097	1	136	0.0074	32	c.74- others(45): Show c.74-595_74-594insTATATATATATATATATATACATACATACATA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(25): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp2 NA18965.hp2 others(2): Show NA18959.hp1 NA18959.hp2 NA18965.hp2 NA18999.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0005g0008 a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0005g0008	5	26	0.1923	32	c.21 others(43): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SIT1_chr9_35644295_35655931	35653281	T T	TCACTCCA others(25): Show TCACTCCACTGCACTGCAGCCTGGGCGACAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01175.hp2 HG02055.hp1 others(23): Show HG00639.hp2 HG01175.hp2 HG02055.hp1 HG02055.hp2 HG02165.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03486.hp1 HG03688.hp1 HG04228.hp2 HG06807.hp2 NA18962.hp1 NA18962.hp2 NA18992.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	26	431	0.0603	32	c.-24 others(43): Show c.-2429_-2428insCTCTGTCGCCCAGGCTGCAGTGCAGTGGAGTG	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		2351		chr9	TogoVar
SIX5_chr19_45759785_45774252	45770204	C C	CAGCAGCA others(25): Show CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	6	0.1667	32	c.-13 others(43): Show c.-1361_-1360insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		953		chr19	TogoVar
SI_chr3_164973898_165083496	165065464	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01169.hp1 HG02155.hp1 others(9): Show HG00544.hp2 HG01169.hp1 HG02155.hp1 HG02602.hp1 HG02976.hp2 HG03834.hp2 NA18941.hp2 NA18964.hp2 NA18980.hp2 NA18989.hp1 NA18990.hp1 NA19077.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0026 a0004c0004 a0001c0001 a0001c0026 a0004c0004	a0001c0001t0001 a0001c0026t0001 a0004c0004t0004 a0001c0001t0001 a0001c0026t0001 a0004c0004t0004	a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 others(9): Show a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0026t0001g0113 a0004c0004t0004g0111	12	123	0.0976	32	c.636 others(45): Show c.636-33_636-32insATATATATATATATATATATATATATATATAT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	6/47			chr3	TogoVar
SKAP1_chr17_48128442_48435214	48367536	G G	GTATATAT others(25): Show GTATATATATATATATATGGATATATATCCATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	101	0.0099	32	c.153 others(49): Show c.153-3723_153-3722insTATGGATATATATCCATATATATATATA TATA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	2/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48367561	C C	CATATATA others(25): Show CATATATATATATATATATGGATATATATCCAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	241	0.0041	32	c.153 others(49): Show c.153-3748_153-3747insATGGATATATATCCATATATATATATAT ATAT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	2/12			chr17	TogoVar
SKOR2_chr18_47201169_47256660	47245478	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03486.hp2 HG02257.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0122 a0001c0001t0001g0045 a0001c0001t0001g0122	2	98	0.0204	32	c.267 others(47): Show c.2677+19_2677+20insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SKOR2	ENSG00000215474.8	transcript	ENST00000425639.3	protein_coding	3/8			chr18	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01167.hp2 HG02559.hp1 others(3): Show HG00140.hp2 HG01167.hp2 HG02559.hp1 HG03688.hp2 NA18950.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0082 a0001c0001t0001g0143 a0001c0001t0001g0150 others(3): Show a0001c0001t0001g0082 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0317 a0001c0001t0002g0034 a0001c0001t0013g0204	6	100	0.0600	32	c.46 others(43): Show c.4678_*4709dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(25): Show TACATACATACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG06807.hp2 HG01106.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0308 a0001c0001t0001g0046 a0001c0001t0001g0308	2	96	0.0208	32	c.47 others(43): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(25): Show TACATACATACATACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG02738.hp1 HG01070.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0154 a0001c0001t0001g0004 a0001c0001t0001g0154	2	96	0.0208	32	c.47 others(43): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(25): Show TACATACATACATATACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG01517.hp1 others(9): Show HG00280.hp1 HG00609.hp2 HG01517.hp1 HG02135.hp1 HG02451.hp2 HG02897.hp2 HG03486.hp1 HG03516.hp2 HG04228.hp1 NA18906.hp2 NA18978.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0001 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0124 a0001c0001t0001g0149 a0001c0001t0001g0160 others(9): Show a0001c0001t0001g0124 a0001c0001t0001g0149 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0196 a0001c0001t0001g0228 a0001c0001t0001g0238 a0001c0001t0001g0262 a0001c0001t0001g0278 a0001c0001t0001g0309 a0001c0001t0006g0337 a0001c0001t0014g0284	12	106	0.1132	32	c.47 others(43): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTATATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACTTACA others(25): Show TACTTACATACATACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	95	0.0105	32	c.47 others(43): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTATGTATGTAAGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLC10A1_chr14_69770416_69802241	69788802	T T	TCCCCCGG others(25): Show TCCCCCGGGCCTCCCCCCCCCCCCCCCCACCCC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	338	0.0030	32	c.357 others(49): Show c.357-2496_357-2495insGGGGTGGGGGGGGGGGGGGGGAGGCCCG GGGG	SLC10A1	ENSG00000100652.5	transcript	ENST00000216540.5	protein_coding	1/4			chr14	TogoVar
SLC10A6_chr4_86818468_86854384	86837225	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	195	0.0051	32	c.378 others(49): Show c.378-3833_378-3802dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar

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