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
SCCPDH_chr1_246719409_246773137	246764930	GGTATAAT others(37): Show GGTATAATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	410	0.0024	-44	c.110 others(61): Show c.1102+617_1102+660delAGTATAATTACTGTCAGAGACAGACAGG TCCACTTGTGAACTGT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCCPDH_chr1_246719409_246773137	246764974	AGTATAAT others(37): Show AGTATAATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG01433.hp2 others(5): Show HG00735.hp1 HG01175.hp1 HG01433.hp2 HG02559.hp1 HG02572.hp2 HG03195.hp2 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0134 a0001c0001t0006g0027 a0001c0001t0006g0028 others(3): Show a0001c0001t0001g0134 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0061 a0001c0001t0006g0064 a0001c0001t0006g0065	8	410	0.0195	-44	c.110 others(61): Show c.1102+837_1103-821delGGTATAATTACTGTCAGAGACAGACAGG TCCACTTGTGAACTGT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCD5_chr4_82624539_82803796	82712243	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02976.hp1 HG03225.hp2 others(3): Show HG01109.hp2 HG02976.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0030	a0001c0001t0002g0042 a0001c0001t0002g0080 a0001c0001t0005g0077 others(3): Show a0001c0001t0002g0042 a0001c0001t0002g0080 a0001c0001t0005g0077 a0001c0001t0012g0092 a0001c0001t0012g0181 a0001c0001t0030g0203	6	210	0.0286	-44	c.233 others(61): Show c.233-6874_233-6831delATATATATATATATATATATATATATAT ATATATATATATATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77531009	ATATTTGC others(37): Show ATATTTGCAGTGTGGCTCATGATTGTCTCCAGAAAATGTGGACCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	356	0.0028	-44	c.-48 others(55): Show c.-4834_-4791delTATTTGCAGTGTGGCTCATGATTGTCTCCAGAAA ATGTGGACCC	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding		4696		chr13	TogoVar
SCHIP1_chr3_159268244_159902359	159704864	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03579.hp2 HG01243.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0087 a0001c0004t0001g0018 a0001c0001t0001g0087 a0001c0004t0001g0018	2	100	0.0200	-44	c.64- others(61): Show c.64-59546_64-59503delTTTCTTTCTTTATTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159704900	CTTTCTTT others(37): Show CTTTCTTTATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	100	0.0100	-44	c.64- others(61): Show c.64-59542_64-59499delTTTCTTTATTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCCTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159828388	CATATATA others(37): Show CATATATACGTATATATATACGTATATATACGTATATATATACGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp1 HG02922.hp2 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0034 a0002c0003t0001g0091 a0002c0003t0001g0034 a0002c0003t0001g0091	2	100	0.0200	-44	c.760 others(63): Show c.760-37745_760-37702delCGTATATATATACGTATATATACGTA TATATATACGTATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938522	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0051 a0001c0002t0004g0051	1	314	0.0032	-44	c.488 others(61): Show c.488+6845_488+6888delAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963380	TATATATG others(37): Show TATATATGATGGAGATATATATATATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	314	0.0032	-44	c.-27 others(63): Show c.-279-3001_-279-2958delCTCCATCATATATATATATATATATA TATATCTCCATCATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCT_chr11_621309_632181	628919	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03453.hp1 HG02896.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	2	411	0.0049	-44	c.-18 others(55): Show c.-1820_-1777delGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1739		chr11	TogoVar
SCT_chr11_621309_632181	628921	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(69): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02109.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18967.hp2 NA19000.hp2 NA19043.hp2 NA19070.hp1 NA19084.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	72	411	0.1752	-44	c.-18 others(55): Show c.-1822_-1779delAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1741		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43280875	TGTCACCT others(37): Show TGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp1 HG02080.hp1 others(7): Show HG00597.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02165.hp1 HG03492.hp1 NA19002.hp1 NA19005.hp1 NA19065.hp2 NA19066.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0012	a0001c0035 a0002c0002 a0002c0005 others(2): Show a0001c0035 a0002c0002 a0002c0005 a0006c0015 a0012c0032	a0001c0035t0004 a0002c0002t0002 a0002c0002t0007 others(3): Show a0001c0035t0004 a0002c0002t0002 a0002c0002t0007 a0002c0005t0001 a0006c0015t0007 a0012c0032t0002	a0001c0035t0004g0209 a0002c0002t0002g0036 a0002c0002t0002g0086 others(7): Show a0001c0035t0004g0209 a0002c0002t0002g0036 a0002c0002t0002g0086 a0002c0002t0002g0106 a0002c0002t0002g0250 a0002c0002t0007g0047 a0002c0005t0001g0049 a0006c0015t0007g0028 a0006c0015t0007g0066 a0012c0032t0002g0019	10	280	0.0357	-44	c.484 others(63): Show c.484+10127_484+10170delGTAGCTGAGGAGGAGATGACAGAAGG GTGGCCAAGGGAGGTGAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280876	GTCACCTC others(37): Show GTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACC	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0117	1	280	0.0036	-44	c.484 others(63): Show c.484+10126_484+10169delGGTAGCTGAGGAGGAGATGACAGAAG GGTGGCCAAGGGAGGTGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280995	CTGTCACC others(37): Show CTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02109.hp2 HG02559.hp1 others(5): Show HG02074.hp1 HG02109.hp2 HG02559.hp1 HG02559.hp2 HG02886.hp1 HG06807.hp1 NA19002.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0012 a0002c0002 others(2): Show a0001c0004 a0001c0012 a0002c0002 a0002c0009 a0002c0014	a0001c0004t0004 a0001c0012t0096 a0002c0002t0002 others(4): Show a0001c0004t0004 a0001c0012t0096 a0002c0002t0002 a0002c0002t0031 a0002c0009t0025 a0002c0014t0026 a0002c0014t0078	a0001c0004t0004g0233 a0001c0012t0096g0277 a0002c0002t0002g0086 others(5): Show a0001c0004t0004g0233 a0001c0012t0096g0277 a0002c0002t0002g0086 a0002c0002t0002g0224 a0002c0002t0031g0007 a0002c0009t0025g0259 a0002c0014t0026g0130 a0002c0014t0078g0261	8	280	0.0286	-44	c.484 others(63): Show c.484+10007_484+10050delTAGCTGAGGAGGAGATGACAGAAGGG TGGCCAAGGGAGGTGACA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281003	TCCCTTGG others(37): Show TCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCA	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0004 a0001c0035t0004	a0001c0035t0004g0209 a0001c0035t0004g0209	1	280	0.0036	-44	c.484 others(62): Show c.484+9999_484+10042delTGACAGGATAGCTGAGGAGGAGATGAC AGAAGGGTGGCCAAGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281113	CTGTCACC others(37): Show CTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18990.hp2 HG02109.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0002 a0001c0012 a0002c0002	a0001c0012t0096 a0002c0002t0013 a0001c0012t0096 a0002c0002t0013	a0001c0012t0096g0277 a0002c0002t0013g0175 a0001c0012t0096g0277 a0002c0002t0013g0175	2	280	0.0071	-44	c.484 others(61): Show c.484+9889_484+9932delTAGCTGAGGAGGAGATGACAGAAGGGTG GCCAAGGGAGGTGACA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281232	TGTCACCT others(37): Show TGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTAC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02109.hp2 HG02165.hp2 others(6): Show HG02074.hp1 HG02109.hp2 HG02165.hp2 HG02886.hp2 HG03098.hp2 HG03130.hp2 NA18747.hp2 NA19002.hp2 NA19080.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0012 a0001c0024 a0002c0002 others(2): Show a0001c0012 a0001c0024 a0002c0002 a0003c0001 a0005c0030	a0001c0012t0096 a0001c0024t0094 a0002c0002t0001 others(4): Show a0001c0012t0096 a0001c0024t0094 a0002c0002t0001 a0002c0002t0002 a0002c0002t0095 a0003c0001t0001 a0005c0030t0014	a0001c0012t0096g0277 a0001c0024t0094g0271 a0002c0002t0001g0122 others(6): Show a0001c0012t0096g0277 a0001c0024t0094g0271 a0002c0002t0001g0122 a0002c0002t0002g0107 a0002c0002t0002g0224 a0002c0002t0095g0278 a0003c0001t0001g0158 a0003c0001t0001g0179 a0005c0030t0014g0239	9	280	0.0321	-44	c.484 others(61): Show c.484+9770_484+9813delGTAGCTGAGGAGGAGATGACAGAAGGGT GGCCAAGGGAGGTGAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281352	CTGTCACC others(37): Show CTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02615.hp2 others(9): Show HG02055.hp2 HG02257.hp1 HG02615.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp2 NA18943.hp2 NA19003.hp2 NA19005.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0020 a0001c0021 a0002c0002 others(4): Show a0001c0020 a0001c0021 a0002c0002 a0003c0001 a0005c0030 a0005c0031 a0006c0015	a0001c0020t0017 a0001c0021t0005 a0001c0021t0022 others(8): Show a0001c0020t0017 a0001c0021t0005 a0001c0021t0022 a0002c0002t0002 a0002c0002t0005 a0002c0002t0018 a0003c0001t0001 a0003c0001t0051 a0005c0030t0014 a0005c0031t0005 a0006c0015t0007	a0001c0020t0017g0014 a0001c0021t0005g0076 a0001c0021t0022g0075 others(9): Show a0001c0020t0017g0014 a0001c0021t0005g0076 a0001c0021t0022g0075 a0002c0002t0002g0265 a0002c0002t0005g0034 a0002c0002t0018g0011 a0003c0001t0001g0202 a0003c0001t0001g0211 a0003c0001t0051g0142 a0005c0030t0014g0239 a0005c0031t0005g0256 a0006c0015t0007g0066	12	280	0.0429	-44	c.484 others(61): Show c.484+9650_484+9693delTAGCTGAGGAGGAGATGACAGAAGGGTG GCCAAGGGAGGTGACA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281364	TTGGCCAC others(37): Show TTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0173 a0002c0002t0002g0173	1	280	0.0036	-44	c.484 others(61): Show c.484+9638_484+9681delGAGGTGACAGGATAGCTGAGGAGGAGAT GACAGAAGGGTGGCCA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCYL3_chr1_169844631_169898896	169854094	CATTTTTC others(37): Show CATTTTTCTGGGGGAAGGAAAGATAGATACCAATGATAGAAACTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp2 HG03041.hp2 others(2): Show HG01884.hp1 HG02976.hp2 HG03041.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0021 a0001c0001t0019g0100 a0001c0001t0019g0167 others(1): Show a0001c0001t0019g0021 a0001c0001t0019g0100 a0001c0001t0019g0167 a0001c0001t0019g0177	5	418	0.0120	-44	c.200 others(61): Show c.2007+132_2007+175delCAGTTTCTATCATTGGTATCTATCTTTC CTTCCCCCAGAAAAAT	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	12/12			chr1	TogoVar
SDK2_chr17_73329384_73649445	73371223	CTGATGCT others(37): Show CTGATGCTAAAAGTTTGCCATTATTAGCACACAGGTGGTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02976.hp1 HG02109.hp1 HG02451.hp2 HG02976.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0073 a0002c0059 a0006c0042 a0001c0073 a0002c0059 a0006c0042	a0001c0073t0038 a0002c0059t0063 a0006c0042t0053 a0001c0073t0038 a0002c0059t0063 a0006c0042t0053	a0001c0073t0038g0079 a0002c0059t0063g0144 a0006c0042t0053g0030 a0001c0073t0038g0079 a0002c0059t0063g0144 a0006c0042t0053g0030	3	204	0.0147	-44	c.498 others(63): Show c.4981-2674_4981-2631delCGGAAGACCACCTGTGTGCTAATAAT GGCAAACTTTTAGCATCA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	36/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73595948	TGGAGAAG others(37): Show TGGAGAAGCCCTTGACACATAGGATTGCAGAAGTCAGAGGTCTTG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01981.hp2 HG04115.hp2 HG01361.hp1 HG01981.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0023 a0001c0002 a0001c0007 a0001c0023	a0001c0002t0001 a0001c0007t0003 a0001c0023t0017 a0001c0002t0001 a0001c0007t0003 a0001c0023t0017	a0001c0002t0001g0137 a0001c0007t0003g0026 a0001c0023t0017g0189 a0001c0002t0001g0137 a0001c0007t0003g0026 a0001c0023t0017g0189	3	204	0.0147	-44	c.64+ others(61): Show c.64+48033_64+48076delCAAGACCTCTGACTTCTGCAATCCTATG TGTCAAGGGCTTCTCC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SELENON_chr1_25795193_25823221	25808294	CTGCGCCT others(37): Show CTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	392	0.0026	-44	c.538 others(59): Show c.538-285_538-242delTGCGCCTGGGTGGGCTGTGCCTGGGTGGGC TGTGCCTGGGTGGG	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	4/12		WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SEMA6A_chr5_116438555_116579823	116471619	ATAGATGA others(37): Show ATAGATGAGGGAACATTAAAGTTGGATGAATTCTGTGGGCTTATC	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0261 a0001c0001t0066g0261	1	304	0.0033	-44	c.172 others(63): Show c.1729+1410_1729+1453delGATAAGCCCACAGAATTCATCCAACT TTAATGTTCCCTCATCTA	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	17/18			chr5	TogoVar
SENP3_chr17_7556919_7576969	7571868	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0161 a0001c0001t0161	a0001c0001t0161g0010 a0001c0001t0161g0010	1	446	0.0022	-44	c.39 others(53): Show c.393_*436delTATATATATATATATATATATATATATATATATAAA AATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	393	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN7_chr7_35796057_35912110	35838282	TTCCTTCC others(37): Show TTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG01123.hp2 others(1): Show HG00140.hp2 HG01099.hp1 HG01123.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0159 a0001c0001t0002g0161 others(1): Show a0001c0001t0002g0073 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0166	4	346	0.0116	-44	c.169 others(61): Show c.169+5386_169+5429delTTCCTTCCTTCCTTCCTTCCCTCCCTCC CTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838286	TTCCTTCC others(37): Show TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18973.hp1 NA18991.hp2 others(3): Show HG00609.hp2 NA18973.hp1 NA18991.hp2 NA19006.hp2 NA19070.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 others(3): Show a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0007g0157	6	346	0.0173	-44	c.169 others(61): Show c.169+5390_169+5433delTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838290	TTCCTTCC others(37): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00673.hp1 others(36): Show HG00408.hp1 HG00438.hp1 HG00673.hp1 HG02074.hp1 HG02080.hp2 HG02257.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG04115.hp1 NA18906.hp1 NA18940.hp1 NA18954.hp2 NA18966.hp1 NA18974.hp1 NA18974.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA19001.hp1 NA19010.hp2 NA19043.hp1 NA19072.hp1 NA19078.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0028 a0001c0001t0031 a0001c0002t0001 a0001c0004t0013	a0001c0001t0001g0182 a0001c0001t0002g0025 a0001c0001t0002g0108 others(34): Show a0001c0001t0001g0182 a0001c0001t0002g0025 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0125 a0001c0001t0002g0149 a0001c0001t0003g0005 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0213 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0004g0006 a0001c0001t0006g0057 a0001c0001t0008g0016 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0011g0065 a0001c0001t0011g0067 a0001c0001t0017g0210 a0001c0001t0017g0217 a0001c0001t0028g0053 a0001c0001t0031g0167 a0001c0002t0001g0302 a0001c0004t0013g0043	39	346	0.1127	-44	c.169 others(61): Show c.169+5394_169+5437delTTCCTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838294	TTCCTTCC others(37): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0194 a0001c0001t0022g0195 a0001c0001t0022g0194 a0001c0001t0022g0195	2	346	0.0058	-44	c.169 others(61): Show c.169+5398_169+5441delTTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838298	TTCCTTCC others(37): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18941.hp1 HG01517.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0326 a0001c0001t0001g0232 a0001c0001t0001g0326	2	346	0.0058	-44	c.169 others(61): Show c.169+5402_169+5445delTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINB13_chr18_63582343_63604192	63591366	GCCTTCCT others(37): Show GCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTTTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00544.hp2 others(56): Show HG00099.hp1 HG00140.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01496.hp2 HG01934.hp2 HG01981.hp1 HG02055.hp1 HG02083.hp2 HG02135.hp2 HG02738.hp1 HG03831.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18956.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18977.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18997.hp1 NA19002.hp1 NA19006.hp1 NA19006.hp2 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19063.hp2 NA19064.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp2 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0001c0001t0019 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0018 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0159 a0001c0001t0007g0020 a0001c0001t0017g0002 a0001c0001t0019g0015 a0003c0005t0001g0002 a0003c0005t0001g0041 a0003c0005t0001g0090	59	440	0.1341	-44	c.226 others(59): Show c.226-920_226-877delCTTCCCTCCTTCCTTCCTTTTTTCTTTCCT TCCTTCCTTCCTTC	SERPINB13	ENSG00000197641.12	transcript	ENST00000344731.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE2_chr2_223970045_224044286	223982082	GAGCAATG others(37): Show GAGCAATGACTAGATAAAGAAAATGAGGTATGTACACATCATGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02886.hp1 others(2): Show HG02145.hp2 HG02723.hp2 HG02886.hp1 HG02970.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0006 a0001c0003t0014 a0001c0003t0005 a0001c0003t0006 a0001c0003t0014	a0001c0003t0005g0024 a0001c0003t0005g0192 a0001c0003t0006g0284 others(2): Show a0001c0003t0005g0024 a0001c0003t0005g0192 a0001c0003t0006g0284 a0001c0003t0006g0285 a0001c0003t0014g0354	5	374	0.0134	-44	c.985 others(59): Show c.985+555_985+598delTCCATGATGTGTACATACCTCATTTTCTTT ATCTAGTCATTGCT	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	6/8			chr2	TogoVar
SERTM1_chr13_36669020_36702839	36677107	CTAGGATA others(37): Show CTAGGATACAACGTCTTCATGCTCAGTCTCATGACATAAAATGCG	C C	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	438	0.0023	-44	c.-17 others(63): Show c.-174+2925_-174+2968delAGGATACAACGTCTTCATGCTCAGTC TCATGACATAAAATGCGT	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETBP1_chr18_44675888_45073510	44868701	CGGAAGGA others(37): Show CGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show HG00099.hp2 HG00140.hp2 HG00438.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01192.hp2 HG01255.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02165.hp2 HG02630.hp1 HG02895.hp2 HG02896.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03654.hp2 NA18953.hp2 NA18963.hp1 NA18964.hp2 NA18989.hp1 NA19000.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0008 a0012	a0001c0001 a0001c0005 a0001c0010 others(7): Show a0001c0001 a0001c0005 a0001c0010 a0002c0002 a0004c0004 a0004c0015 a0006c0007 a0007c0008 a0008c0013 a0012c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0005t0001 a0001c0010t0007 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0004c0004t0001 a0004c0004t0002 a0004c0004t0007 a0004c0015t0004 a0006c0007t0023 a0007c0008t0002 a0008c0013t0021 a0012c0018t0004	a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0097 others(26): Show a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0134 a0001c0001t0002g0039 a0001c0001t0003g0059 a0001c0001t0005g0079 a0001c0001t0009g0077 a0001c0001t0015g0015 a0001c0005t0001g0084 a0001c0005t0001g0111 a0001c0010t0007g0058 a0001c0010t0007g0113 a0002c0002t0001g0020 a0002c0002t0004g0095 a0002c0002t0006g0048 a0004c0004t0001g0019 a0004c0004t0001g0024 a0004c0004t0001g0085 a0004c0004t0001g0119 a0004c0004t0002g0078 a0004c0004t0007g0070 a0004c0015t0004g0036 a0006c0007t0023g0062 a0007c0008t0002g0080 a0007c0008t0002g0086 a0008c0013t0021g0090 a0012c0018t0004g0050	29	140	0.2071	-44	c.487 others(59): Show c.487-518_487-475delGAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SF3B2_chr11_66047364_66074308	66072852	ACTGGCAA others(37): Show ACTGGCAAGGAGCTGCAGCAGAGGGGCGTGAATGAAATCATTGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	394	0.0025	-44	c.41 others(55): Show c.4108_*4151delCTGGCAAGGAGCTGCAGCAGAGGGGCGTGAATGA AATCATTGAC	SF3B2	ENSG00000087365.16	transcript	ENST00000322535.11	protein_coding		3545		chr11	TogoVar
SGCZ_chr8_14079845_15243431	14440682	CGTATACA others(37): Show CGTATACACGTATATGTATATATGTATATACATACGTATACACGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01074.hp1 others(23): Show HG00438.hp1 HG00642.hp1 HG01074.hp1 HG01081.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02135.hp2 HG02280.hp2 HG02451.hp1 HG02809.hp2 HG03195.hp1 HG03486.hp2 HG03540.hp1 HG03704.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA19000.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0001t0035 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0051 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0068 a0001c0001t0071 a0001c0001t0076 a0001c0001t0077 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0002c0002t0007 a0003c0003t0043	a0001c0001t0002g0079 a0001c0001t0003g0020 a0001c0001t0003g0021 others(23): Show a0001c0001t0002g0079 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0005g0072 a0001c0001t0019g0028 a0001c0001t0025g0022 a0001c0001t0026g0035 a0001c0001t0027g0010 a0001c0001t0032g0018 a0001c0001t0035g0014 a0001c0001t0044g0033 a0001c0001t0045g0008 a0001c0001t0048g0051 a0001c0001t0051g0074 a0001c0001t0055g0100 a0001c0001t0056g0062 a0001c0001t0059g0055 a0001c0001t0068g0064 a0001c0001t0071g0067 a0001c0001t0076g0073 a0001c0001t0077g0065 a0001c0001t0087g0088 a0001c0001t0088g0054 a0001c0001t0090g0084 a0002c0002t0007g0048 a0003c0003t0043g0041	26	102	0.2549	-44	c.234 others(65): Show c.234+114006_234+114049delACGTGTATACGTATGTATATACAT ATATACATATACGTGTATAC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15097815	CGTGTGTG others(37): Show CGTGTGTGTATATATATATACGTGTGTGTATATATATATATACGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0051 a0001c0001t0048g0051	1	102	0.0098	-44	c.39+ others(63): Show c.39+139726_39+139769delACGTATATATATATATACACACACGT ATATATATATACACACAC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66629218	CTGATTGA others(37): Show CTGATTGAACCTCCTAAGATATACAGTGGGGTTAGGACCAGAATT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0015 a0002c0002t0003g0015	1	302	0.0033	-44	c.74+ others(59): Show c.74+3310_74+3353delGATTGAACCTCCTAAGATATACAGTGGGGT TAGGACCAGAATTT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK3_chr8_66707781_66867022	66839498	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	142	0.0070	-44	c.742 others(59): Show c.742-488_742-445delATATATATATATATATATATATATATATAT ATATATATATATAT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66839515	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp1 NA18906.hp1 HG02145.hp2 HG02895.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0049 a0001c0002t0002g0056 a0001c0002t0002g0057	3	142	0.0211	-44	c.742 others(59): Show c.742-486_742-443delATATATATATATATATATATATATATATAT ATATATATATATTT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50399762	CTCACACC others(37): Show CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	312	0.0032	-44	c.-23 others(65): Show c.-232+33670_-232+33713delTCCGCCTGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGTGTGA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGSM1_chr22_24801211_24932578	24900365	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG03017.hp1 HG03098.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0008	a0001c0001 a0001c0004 a0001c0006 others(9): Show a0001c0001 a0001c0004 a0001c0006 a0001c0014 a0001c0023 a0001c0027 a0001c0029 a0001c0044 a0002c0011 a0005c0024 a0007c0036 a0008c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0006t0002 a0001c0014t0002 a0001c0023t0012 a0001c0027t0003 a0001c0029t0001 a0001c0044t0002 a0002c0011t0001 a0005c0024t0002 a0007c0036t0039 a0008c0037t0002	a0001c0001t0001g0028 a0001c0001t0001g0053 a0001c0001t0001g0073 others(103): Show a0001c0001t0001g0028 a0001c0001t0001g0053 a0001c0001t0001g0073 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0300 a0001c0001t0001g0315 a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0129 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0197 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0257 a0001c0001t0002g0263 a0001c0001t0002g0270 a0001c0001t0002g0280 a0001c0001t0002g0296 a0001c0001t0003g0027 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0211 a0001c0001t0003g0241 a0001c0001t0003g0250 a0001c0001t0003g0258 a0001c0001t0003g0265 a0001c0001t0004g0163 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0184 a0001c0001t0004g0191 a0001c0001t0005g0160 a0001c0001t0005g0165 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0179 a0001c0001t0005g0189 a0001c0001t0006g0098 a0001c0001t0006g0215 a0001c0001t0006g0217 a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0007g0026 a0001c0001t0007g0086 a0001c0001t0007g0114 a0001c0001t0007g0198 a0001c0001t0010g0297 a0001c0001t0018g0158 a0001c0001t0026g0116 a0001c0001t0033g0269 a0001c0001t0034g0328 a0001c0001t0036g0334 a0001c0001t0038g0231 a0001c0004t0002g0111 a0001c0004t0002g0118 a0001c0004t0002g0248 a0001c0004t0002g0333 a0001c0004t0004g0182 a0001c0004t0005g0181 a0001c0004t0006g0149 a0001c0006t0002g0261 a0001c0014t0002g0148 a0001c0023t0012g0285 a0001c0027t0003g0095 a0001c0029t0001g0041 a0001c0044t0002g0230 a0002c0011t0001g0091 a0002c0011t0001g0278 a0005c0024t0002g0219 a0007c0036t0039g0253 a0008c0037t0002g0104	106	338	0.3136	-44	c.261 others(63): Show c.2611-1466_2611-1423delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTGT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SH3BP5L_chr1_248805446_248830915	248812508	GCCTTCCC others(37): Show GCCTTCCCTGCTCCACTCTCAGCACCCACCACAGACCCACAACAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(96): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00741.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01884.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18967.hp1 NA18972.hp1 NA18977.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19078.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0014 a0001c0001t0002g0026 a0001c0001t0002g0028 others(50): Show a0001c0001t0002g0014 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0104 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0004g0136 a0001c0001t0006g0021 a0001c0001t0006g0055 a0001c0001t0006g0096 a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0008g0022 a0001c0001t0008g0118 a0001c0001t0009g0051 a0001c0001t0009g0151	99	412	0.2403	-44	c.712 others(59): Show c.712-182_712-139delGTGTTGTGGGTCTGTGGTGGGTGCTGAGAG TGGAGCAGGGAAGG	SH3BP5L	ENSG00000175137.11	transcript	ENST00000366472.6	protein_coding	6/6			chr1	TogoVar
SH3RF2_chr5_145931578_146068292	146064656	GAGAGAAA others(37): Show GAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG01070.hp2 others(6): Show HG00099.hp1 HG00408.hp2 HG01070.hp2 HG01071.hp1 HG02040.hp1 HG02559.hp1 HG02622.hp2 NA19002.hp1 NA20300.hp1	a0002 a0003 a0021 a0002 a0003 a0021	a0002c0002 a0003c0003 a0021c0019 a0002c0002 a0003c0003 a0021c0019	a0002c0002t0001 a0003c0003t0001 a0021c0019t0001 a0002c0002t0001 a0003c0003t0001 a0021c0019t0001	a0002c0002t0001g0002 a0002c0002t0001g0043 a0002c0002t0001g0189 others(5): Show a0002c0002t0001g0002 a0002c0002t0001g0043 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0255 a0003c0003t0001g0215 a0003c0003t0001g0219 a0021c0019t0001g0033	9	272	0.0331	-44	c.19 others(55): Show c.1956_*1999delAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1365		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064691	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 NA20805.hp2 HG03017.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0199 a0002c0002t0001g0111 a0002c0002t0001g0199	2	272	0.0074	-44	c.19 others(55): Show c.1991_*2034delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGGAAGG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1400		chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109170275	TTCTCTTC others(37): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01928.hp2 others(7): Show HG01167.hp1 HG01169.hp2 HG01928.hp2 HG02027.hp2 HG02523.hp1 HG03239.hp1 NA18964.hp1 NA18975.hp1 NA19009.hp2 NA19011.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0013 a0003c0006 a0001c0001 a0002c0013 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0058 a0002c0013t0033 a0003c0006t0003	a0001c0001t0001g0054 a0001c0001t0002g0070 a0001c0001t0002g0098 others(7): Show a0001c0001t0001g0054 a0001c0001t0002g0070 a0001c0001t0002g0098 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0008g0011 a0001c0001t0015g0125 a0001c0001t0058g0086 a0002c0013t0033g0168 a0003c0006t0003g0095	10	172	0.0581	-44	c.573 others(63): Show c.573+40168_573+40211delTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTCCTCTCTCT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHISAL1_chr22_44238665_44317951	44266527	TATGTGTG others(37): Show TATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGAGGGCTCTG	T T	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp2 NA18950.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0097 a0001c0001t0015 a0001c0001t0097	a0001c0001t0015g0318 a0001c0001t0097g0331 a0001c0001t0015g0318 a0001c0001t0097g0331	2	380	0.0053	-44	c.600 others(63): Show c.600-16886_600-16843delCAGAGCCCTCCAACACACACACACAC ACACACACACACACACAT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SIAH3_chr13_45772242_45856753	45813194	GTCAGTAC others(37): Show GTCAGTACTGAGTCCCGGACCCAGTGGGAACATGGTGAGCCTATA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp2 HG03041.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0033 a0001c0001t0012g0032 a0001c0001t0009g0033 a0001c0001t0012g0032	2	364	0.0055	-44	c.136 others(63): Show c.136-29181_136-29138delTATAGGCTCACCATGTTCCCACTGGG TCCGGGACTCAGTACTGA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIGIRR_chr11_400716_419999	400884	CCCCGCCC others(37): Show CCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	242	0.0041	-44	c.49 others(55): Show c.4968_*5011delTGAGCGGGGTCCGGGGTGAGCGGGGCGGGGGTGA GCGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4831		chr11	TogoVar
SIM1_chr6_100380009_100469921	100412595	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0100 a0002c0002t0007g0100	1	320	0.0031	-44	c.116 others(63): Show c.1167+8151_1167+8194delTTTCTTTCTTTCTTTCCTTCTTTCTT TCCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar

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