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
SCN9A_chr2_166190185_166380944	166358034	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	119	0.0084	-20	c.-51 others(39): Show c.-51+17643_-51+17662delTAAATAAATAAATAAATAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23333194	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0004 a0003c0005t0001g0004	1	304	0.0033	-20	c.-8- others(37): Show c.-8-15394_-8-15375delGAAGGAAGGAAGGAAGAAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23343581	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19085.hp2 NA20805.hp2 HG01884.hp1 NA19085.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0223 a0001c0001t0001g0254 a0001c0001t0001g0001 a0001c0001t0001g0223 a0001c0001t0001g0254	3	115	0.0261	-20	c.-8- others(35): Show c.-8-4961_-8-4942delGAAAGAAAGAAAGAAAGAAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23343631	GAAAGAAA others(13): Show GAAAGAAAGAAAGAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG04199.hp1 HG03579.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0016 a0002c0004t0001g0234 a0001c0001t0001g0016 a0002c0004t0001g0234	2	304	0.0066	-20	c.-8- others(35): Show c.-8-4952_-8-4933delAAAGAAAGAAAAAAAGAAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288221	CCGTGTCT others(13): Show CCGTGTCTCTGCTCCGTCCCG	C C	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	275	0.0036	-20	c.166 others(37): Show c.1662+185_1662+204delCGTGTCTCTGCTCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288686	TGTCCCTG others(13): Show TGTCCCTGCTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03225.hp1 NA20752.hp1 HG02015.hp2 HG03225.hp1 NA20752.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0019 a0001c0001 a0010c0019	a0001c0001t0001 a0001c0001t0011 a0010c0019t0003 a0001c0001t0001 a0001c0001t0011 a0010c0019t0003	a0001c0001t0001g0197 a0001c0001t0011g0267 a0010c0019t0003g0097 a0001c0001t0001g0197 a0001c0001t0011g0267 a0010c0019t0003g0097	3	277	0.0108	-20	c.166 others(37): Show c.1662+653_1662+672delCCTGCTCCGTCCCCCGAGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288690	CCTGCTCC others(13): Show CCTGCTCCGTCCCCCGAGTCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp2 HG01069.hp1 HG01109.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0005c0016 a0003c0004 a0005c0016	a0003c0004t0003 a0005c0016t0001 a0003c0004t0003 a0005c0016t0001	a0003c0004t0003g0150 a0005c0016t0001g0280 a0003c0004t0003g0150 a0005c0016t0001g0280	2	104	0.0192	-20	c.166 others(37): Show c.1662+666_1662+685delCCGAGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288798	TGTCCCTG others(13): Show TGTCCCTGTTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18967.hp2 HG00438.hp2 NA18967.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0003 a0002c0002t0001 a0003c0004t0003	a0002c0002t0001g0004 a0003c0004t0003g0152 a0002c0002t0001g0004 a0003c0004t0003g0152	2	282	0.0071	-20	c.166 others(37): Show c.1662+765_1662+784delCCTGTTCCGTCCCCCGAGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288802	CCTGTTCC others(13): Show CCTGTTCCGTCCCCCGAGTCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0268 a0006c0010t0007g0268	1	116	0.0086	-20	c.166 others(37): Show c.1662+769_1662+788delTTCCGTCCCCCGAGTCTCTG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288928	TGTCCCTG others(13): Show TGTCCCTGTTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02145.hp2 HG02896.hp2 others(3): Show HG01361.hp2 HG02145.hp2 HG02896.hp2 NA18967.hp2 NA19043.hp2 NA19077.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0029	a0001c0001 a0002c0003 a0003c0004 others(1): Show a0001c0001 a0002c0003 a0003c0004 a0029c0040	a0001c0001t0001 a0002c0003t0001 a0003c0004t0003 others(1): Show a0001c0001t0001 a0002c0003t0001 a0003c0004t0003 a0029c0040t0012	a0001c0001t0001g0175 a0002c0003t0001g0070 a0002c0003t0001g0095 others(3): Show a0001c0001t0001g0175 a0002c0003t0001g0070 a0002c0003t0001g0095 a0003c0004t0003g0146 a0003c0004t0003g0152 a0029c0040t0012g0132	6	277	0.0217	-20	c.166 others(37): Show c.1662+895_1662+914delCCTGTTCCGTCCCCCGAGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288932	CCTGTTCC others(13): Show CCTGTTCCGTCCCCCGAGTCT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0107 a0002c0003t0002g0107	1	100	0.0100	-20	c.166 others(37): Show c.1662+899_1662+918delTTCCGTCCCCCGAGTCTCTG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289024	CCTGCTCC others(13): Show CCTGCTCCGTCCCCCGAGTCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18983.hp1 HG00558.hp2 NA18983.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0003 a0002c0002t0001 a0003c0004t0003	a0002c0002t0001g0079 a0003c0004t0003g0149 a0002c0002t0001g0079 a0003c0004t0003g0149	2	100	0.0200	-20	c.166 others(39): Show c.1662+1000_1662+1019delCCGAGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289058	TGTCTCTG others(13): Show TGTCTCTGCTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	287	0.0035	-20	c.166 others(39): Show c.1662+1041_1662+1060delAGTCTCTGCTCCGTCCCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289375	TCCCGTGT others(13): Show TCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18969.hp2 HG02258.hp1 NA18969.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0008 a0002c0002 a0004c0008	a0002c0002t0001 a0004c0008t0001 a0002c0002t0001 a0004c0008t0001	a0002c0002t0001g0053 a0004c0008t0001g0223 a0002c0002t0001g0053 a0004c0008t0001g0223	2	260	0.0077	-20	c.166 others(37): Show c.1663-874_1663-855delCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289413	TCCCGTGT others(13): Show TCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0224 a0004c0008t0001g0224	1	261	0.0038	-20	c.166 others(37): Show c.1663-836_1663-817delCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289656	TGTCCCTG others(13): Show TGTCCCTGCTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19004.hp2 NA19072.hp2 HG02622.hp2 NA19004.hp2 NA19072.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0003 a0005c0011 a0002c0002 a0002c0003 a0005c0011	a0002c0002t0001 a0002c0003t0005 a0005c0011t0001 a0002c0002t0001 a0002c0003t0005 a0005c0011t0001	a0002c0002t0001g0083 a0002c0003t0005g0003 a0005c0011t0001g0157 a0002c0002t0001g0083 a0002c0003t0005g0003 a0005c0011t0001g0157	3	287	0.0105	-20	c.166 others(37): Show c.1663-611_1663-592delCCTGCTCCGTCCCCCGAGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289707	TCCCGTGT others(13): Show TCCCGTGTCCCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	255	0.0039	-20	c.166 others(37): Show c.1663-555_1663-536delCCTGCTCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289774	TCTGCTCC others(13): Show TCTGCTCCGTCCCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	268	0.0037	-20	c.166 others(37): Show c.1663-484_1663-465delCCGTGTCCCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290108	TCCCGTGT others(13): Show TCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01952.hp1 others(2): Show HG00621.hp2 HG00673.hp2 HG01952.hp1 HG02922.hp1 NA18980.hp2	a0002 a0008 a0027 a0002 a0008 a0027	a0002c0002 a0002c0028 a0008c0007 others(1): Show a0002c0002 a0002c0028 a0008c0007 a0027c0027	a0002c0002t0001 a0002c0028t0001 a0008c0007t0004 others(1): Show a0002c0002t0001 a0002c0028t0001 a0008c0007t0004 a0027c0027t0001	a0002c0002t0001g0021 a0002c0002t0001g0051 a0002c0028t0001g0041 others(2): Show a0002c0002t0001g0021 a0002c0002t0001g0051 a0002c0028t0001g0041 a0008c0007t0004g0265 a0027c0027t0001g0022	5	241	0.0207	-20	c.166 others(37): Show c.1663-141_1663-122delCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23204288	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0057 a0001c0004t0005g0057	1	151	0.0066	-20	c.107 others(39): Show c.1078-5434_1078-5415delTATATATATATATATATATA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204322	TATATATA others(13): Show TATATATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	304	0.0033	-20	c.107 others(39): Show c.1078-5426_1078-5407delTATATATATATAGAGAGAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCOC_chr4_140368646_140390728	140369857	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01975.hp1 HG01978.hp1 others(22): Show HG01884.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp1 HG02559.hp1 HG02572.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA19004.hp2 NA19030.hp2 NA19058.hp1 NA19064.hp2 NA19078.hp1 NA19084.hp1 NA19090.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0033	a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0046 others(7): Show a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0005g0003 a0001c0001t0005g0025 a0001c0001t0005g0074 a0001c0001t0008g0009 a0001c0001t0008g0044 a0001c0001t0033g0045	25	168	0.1488	-20	c.-39 others(31): Show c.-3910_-3891delTTTTTTTTTTTTTTTTTTTT	SCOC	ENSG00000153130.18	transcript	ENST00000608372.6	protein_coding		3788		chr4	TogoVar
SCP2_chr1_52922276_53056698	52960478	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp1 NA21309.hp2 HG03130.hp1 HG03453.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0011 a0001c0004t0008 a0001c0004t0011	a0001c0004t0008g0044 a0001c0004t0011g0047 a0001c0004t0011g0048 a0001c0004t0008g0044 a0001c0004t0011g0047 a0001c0004t0011g0048	3	256	0.0117	-20	c.397 others(37): Show c.397-1023_397-1004delATGTGTGTGTGTGTGTGTGT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53037875	TACATACA others(13): Show TACATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp1 HG06807.hp2 HG02622.hp1 HG02922.hp1 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0263 a0001c0005t0007g0264 a0001c0005t0007g0265 a0001c0005t0007g0263 a0001c0005t0007g0264 a0001c0005t0007g0265	3	278	0.0108	-20	c.133 others(39): Show c.1339-1038_1339-1019delTACACACACACACACACACA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53037879	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	128	0.0078	-20	c.133 others(38): Show c.1339-1006_1339-987delCACACACACACACACACACA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCPEP1_chr17_56973131_57011768	56978047	TCAGGCCC others(13): Show TCAGGCCCCGCCCCCGACCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18945.hp1 NA18975.hp1 others(4): Show HG02165.hp1 NA18945.hp1 NA18975.hp1 NA18983.hp2 NA18998.hp1 NA19011.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0002 a0001c0001t0001 a0001c0001t0002 a0002c0004t0002	a0001c0001t0001g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 others(2): Show a0001c0001t0001g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0082 a0002c0004t0002g0003	7	376	0.0186	-20	c.-11 others(28): Show c.-112_-93delCAGGCCCCGCCCCCGACCCG	SCPEP1	ENSG00000121064.13	transcript	ENST00000262288.8	protein_coding		83		chr17	TogoVar
SCRN1_chr7_29915109_29994801	29966159	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	32	0.0313	-20	c.159 others(37): Show c.159+2730_159+2749delCTCTCTCTCTCTCTCTCTCT	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	2/7			chr7	TogoVar
SCRT2_chr20_656596_680802	674713	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00735.hp1 others(29): Show HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02145.hp1 HG02257.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03239.hp2 HG03654.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0037 others(21): Show a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0004g0060 a0001c0001t0006g0151 a0001c0001t0006g0158 a0001c0001t0006g0165 a0001c0001t0006g0167 a0001c0001t0006g0184 a0001c0001t0008g0159 a0001c0001t0008g0166 a0001c0001t0011g0164 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0003g0198 a0002c0002t0003g0200 a0002c0002t0004g0199	32	456	0.0702	-20	c.133 others(35): Show c.133+736_133+755delTACACACACACACACACACA	SCRT2	ENSG00000215397.4	transcript	ENST00000246104.7	protein_coding	1/1			chr20	TogoVar
SCTR_chr2_119434843_119529483	119444268	CATATATA others(13): Show CATATATACATATGAATATAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	281	0.0036	-20	c.114 others(39): Show c.1140+2471_1140+2490delATATATTCATATGTATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCT_chr11_621309_632181	628939	TTCTTTCT others(13): Show TTCTTTCTTTCTTTCTTTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	409	0.0024	-20	c.-18 others(31): Show c.-1816_-1797delGAAAAAGAAAGAAAGAAAGA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1759		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43195202	GCCTGGAT others(13): Show GCCTGGATGTTGATGGGGATT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02818.hp2 HG02922.hp1 others(5): Show HG02004.hp1 HG02818.hp2 HG02922.hp1 HG03486.hp1 HG03579.hp2 HG04204.hp1 NA19043.hp1 NA20905.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0008 a0004c0028 a0013c0033 a0001c0008 a0004c0028 a0013c0033	a0001c0008t0009 a0001c0008t0019 a0004c0028t0009 others(2): Show a0001c0008t0009 a0001c0008t0019 a0004c0028t0009 a0004c0028t0081 a0013c0033t0009	a0001c0008t0009g0113 a0001c0008t0009g0197 a0001c0008t0009g0247 others(5): Show a0001c0008t0009g0113 a0001c0008t0009g0197 a0001c0008t0009g0247 a0001c0008t0019g0029 a0001c0008t0019g0091 a0004c0028t0009g0043 a0004c0028t0081g0274 a0013c0033t0009g0057	8	278	0.0288	-20	c.87 others(31): Show c.8775_*8794delAATCCCCATCAACATCCAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		2077		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280986	TCAGTCAC others(13): Show TCAGTCACCCTGTCACCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0002 a0005c0016t0002	a0005c0016t0002g0024 a0005c0016t0002g0024	1	220	0.0045	-20	c.484 others(39): Show c.484+10040_484+10059delGGGAGGTGACAGGGTGACTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE3_chr6_35208956_35258079	35210679	CCCCTATG others(13): Show CCCCTATGTCAGATGAGAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	288	0.0035	-20	c.-37 others(31): Show c.-3739_-3720delCCCTATGTCAGATGAGAAAA	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding		3276		chr6	TogoVar
SCUBE3_chr6_35208956_35258079	35217233	GGGGCGGG others(13): Show GGGGCGGGGGGGAGGCGCGGC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0218 a0001c0001t0006g0218	1	288	0.0035	-20	c.85+ others(35): Show c.85+2734_85+2753delCGGGGGGGAGGCGCGGCGGG	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCYGR1_chr2_227382683_227392949	227387217	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02896.hp2 HG03195.hp1 others(1): Show HG01952.hp1 HG02896.hp2 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000	4	360	0.0111	-20	c.44 others(29): Show c.446_*465delTATATAGAGAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		465		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387219	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01167.hp2 HG01169.hp1 others(13): Show HG00140.hp2 HG01167.hp2 HG01169.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp2 HG01952.hp2 HG02148.hp1 HG02615.hp1 HG02723.hp2 HG02965.hp1 HG03098.hp1 HG03942.hp2 HG04204.hp2 NA19084.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000	16	390	0.0410	-20	c.44 others(29): Show c.444_*463delTATATATAGAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		463		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387221	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00738.hp2 HG01975.hp1 others(14): Show HG00558.hp1 HG00738.hp2 HG01975.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02922.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03834.hp2 HG06807.hp1 NA18948.hp2 NA18973.hp1 NA18993.hp1 NA18995.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0004c0005	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0004c0005t0001	a0001c0002t0001g0000 a0001c0003t0001g0000 a0002c0001t0001g0000 others(1): Show a0001c0002t0001g0000 a0001c0003t0001g0000 a0002c0001t0001g0000 a0004c0005t0001g0000	17	413	0.0412	-20	c.44 others(29): Show c.442_*461delTATATATATAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		461		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387223	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01433.hp1 HG02135.hp1 others(6): Show HG00423.hp1 HG01433.hp1 HG02135.hp1 HG02559.hp2 HG03831.hp1 HG04228.hp2 NA18946.hp1 NA18968.hp1 NA19082.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0005 a0001c0003 a0004c0005	a0001c0003t0001 a0004c0005t0001 a0001c0003t0001 a0004c0005t0001	a0001c0003t0001g0000 a0004c0005t0001g0000 a0001c0003t0001g0000 a0004c0005t0001g0000	9	436	0.0206	-20	c.44 others(29): Show c.440_*459delTATATATATATAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		459		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387227	CTCTCTAT others(13): Show CTCTCTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	431	0.0023	-20	c.43 others(29): Show c.436_*455delTATATATATATATATAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		455		chr2	TogoVar
SCYGR5_chr2_227661804_227672061	227669564	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	131	0.0076	-20	c.25 others(31): Show c.2504_*2523delAAAATAAAATAAAATAAAAT	SCYGR5	ENSG00000284667.1	transcript	ENST00000641976.1	protein_coding		2504		chr2	TogoVar
SCYL1_chr11_65520083_65543704	65542956	GGATGGAT others(13): Show GGATGGATGGATGGATGGATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	276	0.0036	-20	c.43 others(31): Show c.4391_*4410delGATGGATGGATGGATGGATA	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		4253		chr11	TogoVar
SCYL2_chr12_100262177_100346715	100320549	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp1 HG02976.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0001t0007g0060 a0001c0001t0007g0061	2	34	0.0588	-20	c.139 others(39): Show c.1395+2652_1395+2671delTAAATAAATAAATAAATAAA	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDAD1_chr4_75944915_75995945	75966267	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0004 a0004c0006t0002 a0004c0006t0004	a0004c0006t0002g0273 a0004c0006t0002g0275 a0004c0006t0004g0274 a0004c0006t0002g0273 a0004c0006t0002g0275 a0004c0006t0004g0274	3	137	0.0219	-20	c.104 others(37): Show c.1046-465_1046-446delGTGTGTGTGTGTGTGTGTGT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	12/21			chr4	TogoVar
SDC2_chr8_96488813_96616790	96601833	CACTGCAA others(13): Show CACTGCAACCTCCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0218 a0003c0006t0003g0218	1	332	0.0030	-20	c.173 others(35): Show c.173-561_173-542delACTGCAACCTCCACCTCCAG	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	2/4			chr8	TogoVar
SDHAF1_chr19_35990188_36001312	35990823	GGAAGGAG others(13): Show GGAAGGAGGAAGAAGGAGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG02630.hp1 others(6): Show HG01884.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	9	210	0.0429	-20	c.-44 others(31): Show c.-4451_-4432delGAAGGAGGAAGAAGGAGGAA	SDHAF1	ENSG00000205138.4	transcript	ENST00000378887.4	protein_coding		4364		chr19	TogoVar
SDHAF1_chr19_35990188_36001312	35990868	GAGGAAGA others(13): Show GAGGAAGAAGGAGGAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	390	0.0026	-20	c.-44 others(31): Show c.-4406_-4387delAGGAAGAAGGAGGAAGAAGA	SDHAF1	ENSG00000205138.4	transcript	ENST00000378887.4	protein_coding		4319		chr19	TogoVar
SDK1_chr7_3296252_4274000	3299226	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02897.hp1 HG02922.hp1 others(1): Show HG02559.hp2 HG02897.hp1 HG02922.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0025 a0001c0026 a0001c0027 others(1): Show a0001c0025 a0001c0026 a0001c0027 a0002c0066	a0001c0025t0024 a0001c0026t0002 a0001c0027t0020 others(1): Show a0001c0025t0024 a0001c0026t0002 a0001c0027t0020 a0002c0066t0023	a0001c0025t0024g0089 a0001c0026t0002g0086 a0001c0027t0020g0087 others(1): Show a0001c0025t0024g0089 a0001c0026t0002g0086 a0001c0027t0020g0087 a0002c0066t0023g0088	4	27	0.1481	-20	c.-23 others(31): Show c.-2360_-2341delTTTATTTATTTATTTATTTA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding		2025		chr7	TogoVar
SDK1_chr7_3296252_4274000	3357328	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0027 a0027	a0027c0089 a0027c0089	a0027c0089t0047 a0027c0089t0047	a0027c0089t0047g0056 a0027c0089t0047g0056	1	25	0.0400	-20	c.298 others(39): Show c.298+55464_298+55483delTTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3403824	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03209.hp1 NA20129.hp1 HG01243.hp1 HG03209.hp1 NA20129.hp1	a0001 a0015 a0001 a0015	a0001c0037 a0001c0046 a0015c0074 a0001c0037 a0001c0046 a0015c0074	a0001c0037t0002 a0001c0046t0022 a0015c0074t0042 a0001c0037t0002 a0001c0046t0022 a0015c0074t0042	a0001c0037t0002g0077 a0001c0046t0022g0091 a0015c0074t0042g0081 a0001c0037t0002g0077 a0001c0046t0022g0091 a0015c0074t0042g0081	3	41	0.0732	-20	c.298 others(41): Show c.298+101966_298+101985delTATATATATATATATATATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3427827	TTGTCTCT others(13): Show TTGTCTCTTAGATGTCGTTAG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA20300.hp1 NA20752.hp2 HG01175.hp1 NA20300.hp1 NA20752.hp2	a0004 a0006 a0010 a0004 a0006 a0010	a0004c0076 a0006c0016 a0010c0079 a0004c0076 a0006c0016 a0010c0079	a0004c0076t0003 a0006c0016t0001 a0010c0079t0054 a0004c0076t0003 a0006c0016t0001 a0010c0079t0054	a0004c0076t0003g0073 a0006c0016t0001g0114 a0010c0079t0054g0071 a0004c0076t0003g0073 a0006c0016t0001g0114 a0010c0079t0054g0071	3	77	0.0390	-20	c.298 others(41): Show c.298+126019_298+126038delGTTAGTGTCTCTTAGATGTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar

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