Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SORCS1_chr10_106568663_107169706	107065510	C C	CTCCTCTC others(17): Show CTCCTCTCCTCTCCTCTCCTCTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02717.hp2 others(3): Show HG02145.hp1 HG02451.hp1 HG02717.hp2 HG02723.hp2 HG03209.hp1 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0006 others(1): Show a0001c0002 a0001c0003 a0002c0006 a0003c0015	a0001c0002t0001 a0001c0002t0006 a0001c0003t0002 others(3): Show a0001c0002t0001 a0001c0002t0006 a0001c0003t0002 a0001c0003t0015 a0002c0006t0001 a0003c0015t0005	a0001c0002t0001g0041 a0001c0002t0006g0057 a0001c0003t0002g0047 others(3): Show a0001c0002t0001g0041 a0001c0002t0006g0057 a0001c0003t0002g0047 a0001c0003t0015g0035 a0002c0006t0001g0105 a0003c0015t0005g0007	6	61	0.0984	24	c.558 others(43): Show c.558+98458_558+98459insAAGAGAGGAGAGGAGAGGAGAGGA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7219168	T T	TTTATGCT others(17): Show TTTATGCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0129 a0001c0001t0010g0129	1	168	0.0060	24	c.480 others(43): Show c.480+26042_480+26043insTTATGCTGTGTGTGTGTGTGTGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0131 a0001c0002t0004g0131	1	31	0.0323	24	c.481 others(43): Show c.481-22809_481-22808insATATATATATATATATTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403961	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0110 a0002c0004t0005g0110	1	101	0.0099	24	c.548 others(41): Show c.548+7620_548+7643dupATATATATATATATATATATATAT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7469273	G G	GTGATGGT others(17): Show GTGATGGTGATGGTGGTGTTGGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02717.hp2 HG02809.hp2 others(5): Show HG01109.hp2 HG02717.hp2 HG02809.hp2 HG02976.hp2 HG03540.hp2 HG03579.hp1 NA19043.hp2 NA20300.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0008	a0001c0002 a0001c0005 a0001c0009 others(5): Show a0001c0002 a0001c0005 a0001c0009 a0001c0015 a0003c0046 a0004c0007 a0005c0022 a0008c0056	a0001c0002t0003 a0001c0005t0001 a0001c0009t0037 others(5): Show a0001c0002t0003 a0001c0005t0001 a0001c0009t0037 a0001c0015t0011 a0003c0046t0001 a0004c0007t0001 a0005c0022t0033 a0008c0056t0018	a0001c0002t0003g0028 a0001c0005t0001g0156 a0001c0009t0037g0042 others(5): Show a0001c0002t0003g0028 a0001c0005t0001g0156 a0001c0009t0037g0042 a0001c0015t0011g0015 a0003c0046t0001g0164 a0004c0007t0001g0126 a0005c0022t0033g0153 a0008c0056t0018g0061	8	168	0.0476	24	c.549 others(43): Show c.549-62252_549-62251insGTGATGGTGGTGTTGGTGATGATG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7469276	A A	ATGGTGAT others(17): Show ATGGTGATGGTGATGGTGGTGTTGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0011 a0001c0001t0013g0011	1	168	0.0060	24	c.549 others(43): Show c.549-62252_549-62251insGTGATGGTGATGGTGGTGTTGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7507177	A A	ATTATTTA others(17): Show ATTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02280.hp1 others(10): Show HG01109.hp2 HG01884.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02647.hp2 HG02809.hp2 HG02970.hp1 HG03195.hp1 HG03225.hp1 NA18906.hp1 NA19043.hp2 NA20300.hp2	a0001 a0005 a0008 others(2): Show a0001 a0005 a0008 a0014 a0016	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0001c0015 a0005c0021 a0005c0022 a0008c0056 a0014c0052 a0016c0040	a0001c0001t0006 a0001c0001t0017 a0001c0001t0054 others(10): Show a0001c0001t0006 a0001c0001t0017 a0001c0001t0054 a0001c0002t0003 a0001c0005t0016 a0001c0010t0059 a0001c0010t0060 a0001c0015t0011 a0005c0021t0056 a0005c0022t0033 a0008c0056t0018 a0014c0052t0003 a0016c0040t0003	a0001c0001t0006g0125 a0001c0001t0017g0052 a0001c0001t0054g0007 others(10): Show a0001c0001t0006g0125 a0001c0001t0017g0052 a0001c0001t0054g0007 a0001c0002t0003g0028 a0001c0005t0016g0104 a0001c0010t0059g0163 a0001c0010t0060g0167 a0001c0015t0011g0015 a0005c0021t0056g0103 a0005c0022t0033g0153 a0008c0056t0018g0061 a0014c0052t0003g0030 a0016c0040t0003g0024	13	52	0.2500	24	c.549 others(43): Show c.549-24339_549-24338insATTTATTTATTTATTTATTTATTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7543887	C C	CCCACCCA others(17): Show CCCACCCATCCATCCATCCACCCAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03453.hp1 HG03471.hp2 others(1): Show HG00438.hp2 HG03453.hp1 HG03471.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0038 a0001c0001 a0001c0002 a0001c0038	a0001c0001t0010 a0001c0001t0013 a0001c0002t0002 others(1): Show a0001c0001t0010 a0001c0001t0013 a0001c0002t0002 a0001c0038t0032	a0001c0001t0010g0129 a0001c0001t0013g0099 a0001c0002t0002g0133 others(1): Show a0001c0001t0010g0129 a0001c0001t0013g0099 a0001c0002t0002g0133 a0001c0038t0032g0128	4	110	0.0364	24	c.648 others(43): Show c.648+12270_648+12293dupTCCATCCACCCATCCACCCATCCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7543939	C C	CCCATCCA others(17): Show CCCATCCACCCATCCACCCATCCAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0110 a0002c0004t0005g0110	1	49	0.0204	24	c.648 others(43): Show c.648+12317_648+12318insCCCATCCACCCATCCATCCATCCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7641760	T T	TGATGGAT others(17): Show TGATGGATGGATGGATAAATGGATG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	168	0.0060	24	c.813 others(41): Show c.813+3284_813+3307dupAAATGGATGGATGGATGGATGGAT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7695320	G G	GTGGGTGG others(17): Show GTGGGTGGGTGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG02257.hp1 HG02572.hp2	a0006 a0012 a0006 a0012	a0006c0008 a0012c0039 a0006c0008 a0012c0039	a0006c0008t0001 a0012c0039t0049 a0006c0008t0001 a0012c0039t0049	a0006c0008t0001g0029 a0012c0039t0049g0064 a0006c0008t0001g0029 a0012c0039t0049g0064	2	138	0.0145	24	c.159 others(43): Show c.1592-1875_1592-1874insGTGGGTGGATGGATGGATGGATGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724169	G G	GTGATAGT others(17): Show GTGATAGTGGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02615.hp1 others(9): Show HG02109.hp1 HG02257.hp2 HG02615.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA19043.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0010 a0015	a0001c0002 a0001c0005 a0001c0009 others(9): Show a0001c0002 a0001c0005 a0001c0009 a0001c0029 a0001c0048 a0003c0046 a0004c0007 a0005c0022 a0006c0008 a0006c0045 a0010c0032 a0015c0054	a0001c0002t0001 a0001c0005t0008 a0001c0009t0037 others(9): Show a0001c0002t0001 a0001c0005t0008 a0001c0009t0037 a0001c0029t0061 a0001c0048t0001 a0003c0046t0001 a0004c0007t0001 a0005c0022t0033 a0006c0008t0001 a0006c0045t0001 a0010c0032t0019 a0015c0054t0020	a0001c0002t0001g0123 a0001c0005t0008g0065 a0001c0009t0037g0042 others(9): Show a0001c0002t0001g0123 a0001c0005t0008g0065 a0001c0009t0037g0042 a0001c0029t0061g0162 a0001c0048t0001g0146 a0003c0046t0001g0164 a0004c0007t0001g0126 a0005c0022t0033g0153 a0006c0008t0001g0006 a0006c0045t0001g0148 a0010c0032t0019g0149 a0015c0054t0020g0113	12	48	0.2500	24	c.261 others(41): Show c.2611+290_2611+291insAGTGGTGGTGGTGATGGTGATGAT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724633	G G	GTGATGGT others(17): Show GTGATGGTGGTGGTGATGGCAGTGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02148.hp2 HG02257.hp1 others(1): Show HG02015.hp2 HG02148.hp2 HG02257.hp1 NA19043.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0003 a0012c0039 a0001c0001 a0001c0003 a0012c0039	a0001c0001t0002 a0001c0001t0008 a0001c0003t0023 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0003t0023 a0012c0039t0049	a0001c0001t0002g0067 a0001c0001t0008g0063 a0001c0003t0023g0147 others(1): Show a0001c0001t0002g0067 a0001c0001t0008g0063 a0001c0003t0023g0147 a0012c0039t0049g0064	4	157	0.0255	24	c.261 others(41): Show c.2612-512_2612-511insTGGTGATGGCAGTGATGATGGTGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724633	G G	GTGATGGT others(17): Show GTGATGGTGGTGGTGATGGCGGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02165.hp1 HG02615.hp2 others(4): Show HG01243.hp2 HG02165.hp1 HG02615.hp2 HG02809.hp2 HG04115.hp2 HG06807.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0004c0007	a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 others(4): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0003t0014 a0001c0005t0006 a0001c0010t0026 a0004c0007t0014	a0001c0002t0001g0087 a0001c0002t0003g0028 a0001c0002t0011g0112 others(4): Show a0001c0002t0001g0087 a0001c0002t0003g0028 a0001c0002t0011g0112 a0001c0003t0014g0034 a0001c0005t0006g0157 a0001c0010t0026g0105 a0004c0007t0014g0166	7	160	0.0438	24	c.261 others(41): Show c.2612-512_2612-511insTGGTGATGGCGGTGATGATGGTGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104671325	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0108	1	6	0.1667	24	c.627 others(43): Show c.627+29375_627+29398dupTTTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696113	T T	TATATATA others(17): Show TATATATAATATATATACACATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01891.hp2 HG01433.hp2 HG01891.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0013 a0001c0002 a0002c0013	a0001c0002t0006 a0002c0013t0002 a0001c0002t0006 a0002c0013t0002	a0001c0002t0006g0071 a0002c0013t0002g0131 a0001c0002t0006g0071 a0002c0013t0002g0131	2	66	0.0303	24	c.627 others(43): Show c.627+54174_627+54175insACACATATAATATATAATATATAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104735456	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp2 HG01346.hp2 others(2): Show HG01099.hp2 HG01192.hp2 HG01346.hp2 HG02895.hp1 HG03688.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0020 a0001c0001 a0001c0002 a0009c0020	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0009c0020t0001	a0001c0001t0002g0056 a0001c0001t0003g0023 a0001c0002t0001g0086 others(2): Show a0001c0001t0002g0056 a0001c0001t0003g0023 a0001c0002t0001g0086 a0001c0002t0001g0114 a0009c0020t0001g0024	5	17	0.2941	24	c.627 others(43): Show c.627+93523_627+93524insTTTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104786549	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	60	0.0167	24	c.628 others(43): Show c.628-56238_628-56215dupATAATAATAATAATAATAATAATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104794622	G G	GGAGGGAG others(17): Show GGAGGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03486.hp2 HG02738.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0001 a0001c0005t0001 a0001c0006t0001	a0001c0005t0001g0081 a0001c0006t0001g0077 a0001c0005t0001g0081 a0001c0006t0001g0077	2	43	0.0465	24	c.628 others(43): Show c.628-48167_628-48166insGGAGAGAGAGAGAGAGAGAGAGAG	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104818360	T T	TCTTCCTT others(17): Show TCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01346.hp1 NA18941.hp2 others(5): Show HG00140.hp2 HG01346.hp1 NA18941.hp2 NA18988.hp1 NA18995.hp2 NA19079.hp1 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0002g0093 others(5): Show a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0004g0112 a0001c0002t0001g0035 a0001c0002t0001g0102	8	23	0.3478	24	c.628 others(43): Show c.628-24411_628-24388dupCTTCCTTCCTTCCTTCCTTCCTTC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104876703	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02622.hp1 HG02970.hp1 others(6): Show HG01433.hp1 HG02622.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG06807.hp2 NA19090.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0017 a0001c0001 a0001c0002 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0011c0017t0003	a0001c0001t0001g0009 a0001c0001t0002g0062 a0001c0001t0002g0123 others(6): Show a0001c0001t0001g0009 a0001c0001t0002g0062 a0001c0001t0002g0123 a0001c0002t0001g0050 a0001c0002t0001g0134 a0001c0002t0002g0053 a0001c0002t0003g0120 a0001c0002t0003g0128 a0011c0017t0003g0088	9	42	0.2143	24	c.695 others(43): Show c.695+33867_695+33890dupCCTTCCTTCCTTCCTTCCTTCCTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940204	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19012.hp1 HG01346.hp2 NA19012.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0020 a0001c0002 a0009c0020	a0001c0002t0001 a0009c0020t0001 a0001c0002t0001 a0009c0020t0001	a0001c0002t0001g0036 a0009c0020t0001g0024 a0001c0002t0001g0036 a0009c0020t0001g0024	2	121	0.0165	24	c.795 others(43): Show c.795+24284_795+24307dupATATATATATATATATATATATAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940238	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18941.hp1 NA19003.hp2 HG01106.hp1 NA18941.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0004 a0001c0002t0002 a0001c0018t0002 a0001c0001t0004 a0001c0002t0002 a0001c0018t0002	a0001c0001t0004g0028 a0001c0002t0002g0108 a0001c0018t0002g0063 a0001c0001t0004g0028 a0001c0002t0002g0108 a0001c0018t0002g0063	3	101	0.0297	24	c.795 others(43): Show c.795+24307_795+24308insATATATATATATATATATATTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105125676	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	74	0.0135	24	c.121 others(45): Show c.1213-13720_1213-13719insCACACACACACACACACACACACA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105125679	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	1	17	0.0588	24	c.121 others(45): Show c.1213-13711_1213-13688dupCACACACACACACACACACACACA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105207272	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	38	0.0263	24	c.226 others(43): Show c.2262-3856_2262-3833dupATTATTATTATTATTATTATTATT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105242284	G G	GTTTATAT others(17): Show GTTTATATATATATTTATACATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	133	0.0075	24	c.286 others(43): Show c.2869-3198_2869-3175dupATTTATACATATATTTATATATAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORD_chr15_45018195_45082185	45038128	C C	CTTCCTTC others(17): Show CTTCCTTCCTTCTTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0029 a0002c0002t0014g0029	1	304	0.0033	24	c.67- others(39): Show c.67-2269_67-2268insTTTCCTTCCTTCTTTCCTTCCTTC	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SORL1_chr11_121447314_121638763	121540522	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp2 HG03688.hp1 HG00741.hp2 HG01192.hp2 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0011 a0001c0045 a0001c0003 a0001c0011 a0001c0045	a0001c0003t0002 a0001c0011t0020 a0001c0045t0020 a0001c0003t0002 a0001c0011t0020 a0001c0045t0020	a0001c0003t0002g0229 a0001c0011t0020g0106 a0001c0045t0020g0102 a0001c0003t0002g0229 a0001c0011t0020g0106 a0001c0045t0020g0102	3	28	0.1071	24	c.168 others(43): Show c.1686-3012_1686-3011insAAAAAAAAAAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	12/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0003 a0002c0025t0003	a0002c0025t0003g0260 a0002c0025t0003g0260	1	11	0.0909	24	c.205 others(43): Show c.2051+1993_2051+2016dupAAAAAAAAAAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01258.hp2 HG01261.hp1 others(21): Show HG01106.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01978.hp1 HG01978.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02809.hp1 HG03139.hp2 HG03195.hp1 HG03516.hp2 HG03710.hp2 NA18948.hp2 NA18953.hp2 NA18972.hp2 NA18980.hp2 NA18994.hp1 NA19000.hp2 NA19056.hp1 NA19056.hp2 NA19083.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 a0002c0003t0003 a0003c0005t0003	a0001c0001t0001g0011 a0001c0001t0001g0072 a0001c0001t0001g0076 others(21): Show a0001c0001t0001g0011 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0174 a0001c0001t0003g0053 a0001c0001t0003g0070 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0027g0067 a0002c0003t0003g0170 a0003c0005t0003g0171	24	73	0.3288	24	c.865 others(41): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50113915	C C	CAAAACAA others(17): Show CAAAACAAAAACAAAAACAAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	50	0.0200	24	c.44 others(35): Show c.4428_*4429insTGTTTTTGTTTTTGTTTTTGTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding		3214		chr14	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01192.hp1 others(13): Show HG00140.hp2 HG01109.hp1 HG01192.hp1 HG01361.hp1 HG01978.hp2 HG02083.hp2 HG02258.hp1 HG02523.hp2 HG03688.hp2 HG04228.hp1 NA18945.hp1 NA18960.hp1 NA18964.hp1 NA18985.hp1 NA18995.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0012 a0001c0001 a0001c0002 a0004c0012	a0001c0001t0001 a0001c0002t0001 a0004c0012t0001 a0001c0001t0001 a0001c0002t0001 a0004c0012t0001	a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0244 others(13): Show a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0002t0001g0274 a0004c0012t0001g0296	16	62	0.2581	24	c.511 others(39): Show c.511-632_511-631insTTTTTTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50209274	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01261.hp1 NA18906.hp1 others(3): Show HG00558.hp2 HG01261.hp1 NA18906.hp1 NA18943.hp2 NA19078.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0134 a0001c0001t0001g0231 a0001c0001t0001g0264 others(3): Show a0001c0001t0001g0134 a0001c0001t0001g0231 a0001c0001t0001g0264 a0001c0001t0001g0281 a0001c0003t0001g0135 a0001c0003t0001g0350	6	39	0.1538	24	c.88- others(39): Show c.88-4889_88-4866dupACACACACACACACACACACACAC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03195.hp1 HG03579.hp2 HG02976.hp2 HG03195.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0001 a0003c0004t0003 a0001c0003t0001 a0003c0004t0003	a0001c0003t0001g0000 a0003c0004t0003g0000 a0001c0003t0001g0000 a0003c0004t0003g0000	3	330	0.0091	24	c.-58 others(33): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOX11_chr2_5687384_5706385	5688834	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	50	0.0200	24	c.-38 others(35): Show c.-3888_-3887insTGTGTGTGTGTGTGTGTGTGTGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		3549		chr2	TogoVar
SOX11_chr2_5687384_5706385	5694419	G G	GAAATTCG others(17): Show GAAATTCGTGATTGCAACAAAGGCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0000 a0001c0001t0137g0000	1	432	0.0023	24	c.37 others(33): Show c.373_*396dupAAATTCGTGATTGCAACAAAGGCA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding	1/1	397	INFO_REALIGN_3_PRIME	chr2	TogoVar
SOX30_chr5_157620679_157657438	157631051	A A	ATATATAT others(17): Show ATATATATATACAATATATATATTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	367	0.0027	24	c.188 others(43): Show c.1881-4331_1881-4330insAAATATATATATTGTATATATATA	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX5_chr12_23524504_23954670	23530798	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01243.hp1 others(21): Show HG00639.hp2 HG01074.hp1 HG01243.hp1 HG01496.hp2 HG01934.hp1 HG01993.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02273.hp2 HG02486.hp1 HG02602.hp2 HG02683.hp1 HG02886.hp1 HG02970.hp1 HG03491.hp2 HG03492.hp1 HG04199.hp1 HG06807.hp1 NA18944.hp1 NA18944.hp2 NA18959.hp2 NA19072.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 others(9): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0034 a0001c0001t0036 a0001c0001t0044 a0001c0001t0058 a0001c0001t0071 a0001c0001t0074 a0001c0001t0102 a0001c0002t0006	a0001c0001t0006g0068 a0001c0001t0010g0003 a0001c0001t0010g0038 others(21): Show a0001c0001t0006g0068 a0001c0001t0010g0003 a0001c0001t0010g0038 a0001c0001t0010g0173 a0001c0001t0010g0184 a0001c0001t0011g0082 a0001c0001t0011g0131 a0001c0001t0011g0144 a0001c0001t0014g0097 a0001c0001t0014g0110 a0001c0001t0014g0128 a0001c0001t0034g0015 a0001c0001t0034g0122 a0001c0001t0036g0112 a0001c0001t0036g0117 a0001c0001t0044g0206 a0001c0001t0058g0132 a0001c0001t0071g0014 a0001c0001t0074g0175 a0001c0001t0102g0016 a0001c0002t0006g0019 a0001c0002t0006g0043 a0001c0002t0006g0061 a0001c0002t0006g0126	24	101	0.2376	24	c.34 others(35): Show c.3420_*3421insACACACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3420		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG02738.hp2 NA18942.hp1 others(1): Show HG01261.hp2 HG02738.hp2 NA18942.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0028 a0001c0001t0021 a0001c0001t0028	a0001c0001t0021g0129 a0001c0001t0021g0139 a0001c0001t0028g0185 others(1): Show a0001c0001t0021g0129 a0001c0001t0021g0139 a0001c0001t0028g0185 a0001c0001t0028g0203	4	156	0.0256	24	c.34 others(35): Show c.3400_*3401insGCGCACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG02970.hp2 HG03486.hp2 others(1): Show HG00597.hp2 HG02970.hp2 HG03486.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0105 a0001c0001t0115 others(1): Show a0001c0001t0081 a0001c0001t0105 a0001c0001t0115 a0001c0001t0121	a0001c0001t0081g0193 a0001c0001t0105g0063 a0001c0001t0115g0179 others(1): Show a0001c0001t0081g0193 a0001c0001t0105g0063 a0001c0001t0115g0179 a0001c0001t0121g0186	4	156	0.0256	24	c.34 others(35): Show c.3400_*3401insGCACACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23600522	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02683.hp2 HG03098.hp1 HG02148.hp2 HG02683.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0059 a0001c0001t0117 a0001c0001t0022 a0001c0001t0059 a0001c0001t0117	a0001c0001t0022g0171 a0001c0001t0059g0160 a0001c0001t0117g0083 a0001c0001t0022g0171 a0001c0001t0059g0160 a0001c0001t0117g0083	3	39	0.0769	24	c.116 others(43): Show c.1164+3841_1164+3864dupATATATATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23674336	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02809.hp1 HG00735.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0073 a0001c0001t0004 a0001c0001t0073	a0001c0001t0004g0030 a0001c0001t0073g0189 a0001c0001t0004g0030 a0001c0001t0073g0189	2	6	0.3333	24	c.811 others(41): Show c.811-8773_811-8772insAAAAAAAAAAAAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23704687	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0128 a0001c0001t0014g0128	1	52	0.0192	24	c.810 others(43): Show c.810+29973_810+29996dupATATATATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23704715	T T	TATATATA others(17): Show TATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01168.hp2 others(2): Show HG00639.hp2 HG01106.hp1 HG01168.hp2 HG01261.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 others(2): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0001t0058 a0001c0001t0110	a0001c0001t0010g0003 a0001c0001t0012g0116 a0001c0001t0021g0139 others(2): Show a0001c0001t0010g0003 a0001c0001t0012g0116 a0001c0001t0021g0139 a0001c0001t0058g0132 a0001c0001t0110g0056	5	146	0.0342	24	c.810 others(43): Show c.810+29968_810+29969insGTGTGTGTGTATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16022331	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	106	0.0094	24	c.162 others(43): Show c.1624-7305_1624-7282dupGGAAGGAAGGAAGGAAGGAAGGAA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	12/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16125816	T T	TAGGAAGG others(17): Show TAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19240.hp1 NA18998.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0020 a0001c0001t0006 a0001c0001t0020	a0001c0001t0006g0121 a0001c0001t0020g0055 a0001c0001t0006g0121 a0001c0001t0020g0055	2	48	0.0417	24	c.778 others(43): Show c.778-13917_778-13894dupTCCTTCCTTCCTTCCTTCCTTCCT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132444	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0059 a0001c0002t0034g0059	1	127	0.0079	24	c.778 others(43): Show c.778-20522_778-20521insCTTTCTTTCTTTTTTCTTTCTTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349674	G G	GAGGGAGG others(17): Show GAGGGAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01167.hp2 HG01169.hp1 others(9): Show HG00597.hp1 HG01167.hp2 HG01169.hp1 HG02027.hp1 HG02056.hp1 HG02300.hp1 HG03139.hp2 HG04115.hp1 NA18964.hp2 NA18968.hp2 NA18998.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0038 a0001c0003t0002 a0001c0006t0001	a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 others(9): Show a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0169 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0005g0085 a0001c0001t0008g0086 a0001c0002t0038g0170 a0001c0003t0002g0087 a0001c0003t0002g0089 a0001c0006t0001g0090	12	134	0.0896	24	c.-5+ others(39): Show c.-5+6419_-5+6420insTCCTTCCTTCCTTCCTCCCTCCCT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349674	G G	GAGGGAGG others(17): Show GAGGGAGGGAGGGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18969.hp2 NA18977.hp1 HG02622.hp2 NA18969.hp2 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0002	a0001c0002t0001g0082 a0001c0003t0002g0081 a0001c0003t0002g0116 a0001c0002t0001g0082 a0001c0003t0002g0081 a0001c0003t0002g0116	3	125	0.0240	24	c.-5+ others(39): Show c.-5+6419_-5+6420insTCCTTCCTTCCTCCCTCCCTCCCT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar

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