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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SNX9_chr6_157818246_157950077	157827318	A A	AAACATAT others(21): Show AAACATATATTATAGTTTATATAATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0090 a0005c0006t0001g0090	1	300	0.0033	28	c.12+ others(43): Show c.12+3875_12+3902dupCATATATTATAGTTTATATAATATATAA		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827347	A A	AAACATAT others(21): Show AAACATATATTATAGTTTATATAATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02572.hp1 others(4): Show HG02109.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG03041.hp1 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0085 others(4): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089	7	300	0.0233	28	c.12+ others(43): Show c.12+3904_12+3931dupCATATATTATAGTTTATATAATATATAA		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827376	A A	AAACATAT others(21): Show AAACATATATTATAGTTTATATAATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02976.hp2 HG03540.hp1 HG01934.hp1 HG02976.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0084	3	300	0.0100	28	c.12+ others(43): Show c.12+3933_12+3960dupCATATATTATAGTTTATATAATATATAA		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS4_chr14_55022236_55054489	55041783	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01361.hp1 HG01433.hp2 others(1): Show HG01258.hp1 HG01361.hp1 HG01433.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0145 a0001c0001t0002g0155 a0001c0001t0003g0046 a0001c0001t0002g0145 a0001c0001t0002g0155 a0001c0001t0003g0046	4	50	0.0800	28	c.-90 others(45): Show c.-90-1143_-90-1142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		SOCS4	ENSG00000180008.9	transcript	ENST00000555846.2	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr14	TogoVar
SOCS7_chr17_38346844_38410593	38387107	A A	ATATATAT others(21): Show ATATATATATATATATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0027 a0001c0002t0015g0027	1	262	0.0038	28	c.168 others(47): Show c.1682-8187_1682-8186insGTATGTATGTATGTATATATATATAT AT		SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38387133	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp2 HG02723.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0005 a0002c0003t0010g0007 a0002c0003t0010g0005 a0002c0003t0010g0007	2	195	0.0103	28	c.168 others(47): Show c.1682-8175_1682-8174insGTATATATATATATATATATATATAT AT		SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389863	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0026 a0001c0002t0015g0026	1	152	0.0066	28	c.168 others(47): Show c.1682-5445_1682-5444insATATATATATATATATATATATATAT AT		SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389906	T T	TATATATG others(21): Show TATATATGTACATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0121 a0001c0001t0014g0121	1	239	0.0042	28	c.168 others(47): Show c.1682-5402_1682-5401insTATATGTACATATATATATATATAGA GA		SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389906	T T	TATATATG others(21): Show TATATATGTACATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0122 a0001c0001t0014g0122	1	239	0.0042	28	c.168 others(47): Show c.1682-5402_1682-5401insTATATGTACATATATATATATATATA GA		SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
SORBS1_chr10_95306773_95566371	95365173	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19002.hp1 NA19074.hp1 HG01243.hp1 NA19002.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0021 a0001c0002t0001 a0001c0002t0021	a0001c0002t0001g0065 a0001c0002t0021g0264 a0001c0002t0021g0265 a0001c0002t0001g0065 a0001c0002t0021g0264 a0001c0002t0021g0265	3	18	0.1667	28	c.195 others(47): Show c.1955+2449_1955+2476dupCACACACACACACACACACACACACA CA		SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	22/32						chr10	TogoVar
SORBS1_chr10_95306773_95566371	95378737	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0144 a0001c0003t0002g0144	1	59	0.0169	28	c.165 others(47): Show c.1654-2682_1654-2681insCACACACACACACACACACACACACA CA		SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	18/32						chr10	TogoVar
SORBS1_chr10_95306773_95566371	95467886	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19077.hp2 NA18940.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0002 a0001c0009t0005 a0001c0003t0002 a0001c0009t0005	a0001c0003t0002g0240 a0001c0009t0005g0193 a0001c0003t0002g0240 a0001c0009t0005g0193	2	108	0.0185	28	c.-46 others(47): Show c.-46+23121_-46+23148dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA		SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	2/32						chr10	TogoVar
SORBS1_chr10_95306773_95566371	95494855	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTGTTTATTTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0117 a0001c0022t0001g0117	1	266	0.0038	28	c.-13 others(47): Show c.-131-3736_-131-3735insTAAATAAACAAATAAATAAATAAATA AA		SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	1/32						chr10	TogoVar
SORBS2_chr4_185580523_185817194	185751172	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03491.hp1 HG04204.hp2 HG02071.hp1 HG03491.hp1 HG04204.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0019 a0001c0001 a0005c0019	a0001c0001t0001 a0001c0001t0052 a0005c0019t0032 a0001c0001t0001 a0001c0001t0052 a0005c0019t0032	a0001c0001t0001g0192 a0001c0001t0052g0266 a0005c0019t0032g0244 a0001c0001t0001g0192 a0001c0001t0052g0266 a0005c0019t0032g0244	3	201	0.0149	28	c.-96 others(47): Show c.-96-17019_-96-17018insTTTTTTTTTTTTTTTTTTTTTTTTTT TT		SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26						chr4	TogoVar
SORCS1_chr10_106568663_107169706	106878620	G G	GCATATAT others(21): Show GCATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	36	0.0278	28	c.627 others(47): Show c.627-48948_627-48947insTATATATATATATATATATATATATA TG		SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25						chr10	TogoVar
SORCS1_chr10_106568663_107169706	106878620	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19240.hp1 HG00558.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0012 a0001c0001t0004g0079 a0001c0001t0002g0012 a0001c0001t0004g0079	2	37	0.0541	28	c.627 others(47): Show c.627-48975_627-48948dupTATATATATATATATATATATATATA TA		SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25						chr10	TogoVar
SORCS1_chr10_106568663_107169706	106878620	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp2 HG01243.hp2 others(5): Show HG00408.hp1 HG01081.hp2 HG01243.hp2 HG02451.hp1 HG02615.hp1 HG03209.hp2 HG03579.hp2 NA19070.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0003c0015 a0008c0029	a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 others(5): Show a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0005t0001 a0003c0015t0005 a0008c0029t0005	a0001c0002t0002g0045 a0001c0002t0006g0057 a0001c0003t0001g0070 others(5): Show a0001c0002t0002g0045 a0001c0002t0006g0057 a0001c0003t0001g0070 a0001c0003t0002g0029 a0001c0004t0002g0093 a0001c0005t0001g0109 a0003c0015t0005g0007 a0008c0029t0005g0127	8	43	0.1860	28	c.627 others(47): Show c.627-48948_627-48947insTATATATATATATATATATATATATA CA		SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25						chr10	TogoVar
SORCS1_chr10_106568663_107169706	106891504	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG01884.hp1 HG02145.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0002 a0002c0006t0001 a0001c0003t0002 a0002c0006t0001	a0001c0003t0002g0047 a0002c0006t0001g0050 a0001c0003t0002g0047 a0002c0006t0001g0050	2	46	0.0435	28	c.627 others(47): Show c.627-61832_627-61831insAAAAAAAAAAAAAAAAAAAAAAAAAA AA		SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25						chr10	TogoVar
SORCS1_chr10_106568663_107169706	107065415	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp1 HG02886.hp2 others(2): Show HG01243.hp2 HG02280.hp1 HG02886.hp2 HG02896.hp1 HG03139.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0003 a0004c0025 others(1): Show a0001c0001 a0001c0003 a0004c0025 a0008c0029	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0004c0025t0001 a0008c0029t0005	a0001c0001t0001g0006 a0001c0001t0008g0001 a0001c0003t0001g0089 others(2): Show a0001c0001t0001g0006 a0001c0001t0008g0001 a0001c0003t0001g0089 a0004c0025t0001g0044 a0008c0029t0005g0127	5	14	0.3571	28	c.558 others(47): Show c.558+98526_558+98553dupGAAAGAAAGAAAGAAAGAAAGAAAGA AA		SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25						chr10	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0056 a0001c0017t0002g0056	1	31	0.0323	28	c.481 others(47): Show c.481-22809_481-22808insATATATATATATATATATATATATAT TT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0026 a0001c0010t0026	a0001c0010t0026g0105 a0001c0010t0026g0105	1	31	0.0323	28	c.481 others(47): Show c.481-22809_481-22808insATATATATATATATATATATATATTT TT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0046 a0002c0004t0004g0046	1	31	0.0323	28	c.481 others(47): Show c.481-22809_481-22808insATATATATATATATATTTTTTTTTTT TT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403997	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0015 a0001c0001t0005 a0001c0003t0015	a0001c0001t0005g0014 a0001c0003t0015g0091 a0001c0001t0005g0014 a0001c0003t0015g0091	2	147	0.0136	28	c.548 others(45): Show c.548+7643_548+7644insATATATATATATATATATATATATATTT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448875	T T	TCTCCTCC others(21): Show TCTCCTCCTCCTCCCTCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0001 a0001c0003t0010g0001	1	26	0.0385	28	c.548 others(47): Show c.548+52522_548+52523insCCTCCTCCTCCCTCCTCCCTCCCTCC CT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449007	T T	TCCTCCCT others(21): Show TCCTCCCTCCCTCCCTCCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02886.hp1 others(4): Show HG02258.hp1 HG02451.hp2 HG02886.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0003 a0001c0005 a0001c0053 others(3): Show a0001c0003 a0001c0005 a0001c0053 a0003c0012 a0003c0013 a0014c0052	a0001c0003t0014 a0001c0003t0023 a0001c0005t0003 others(4): Show a0001c0003t0014 a0001c0003t0023 a0001c0005t0003 a0001c0053t0001 a0003c0012t0046 a0003c0013t0018 a0014c0052t0003	a0001c0003t0014g0034 a0001c0003t0023g0147 a0001c0005t0003g0032 others(4): Show a0001c0003t0014g0034 a0001c0003t0023g0147 a0001c0005t0003g0032 a0001c0053t0001g0044 a0003c0012t0046g0033 a0003c0013t0018g0100 a0014c0052t0003g0030	7	125	0.0560	28	c.548 others(47): Show c.548+52671_548+52672insCCCTTCCTCCCTCCCTCCCTCCCTCC CT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7543939	C C	CCCATCCA others(21): Show CCCATCCACCCATCCACCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG01069.hp1 others(8): Show HG00438.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01175.hp1 HG02258.hp2 HG02293.hp1 NA18966.hp1 NA18966.hp2 NA19000.hp1	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0007c0027 a0013c0055	a0001c0001t0007 a0001c0001t0012 a0001c0002t0002 others(7): Show a0001c0001t0007 a0001c0001t0012 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0002t0038 a0001c0006t0002 a0001c0011t0003 a0007c0027t0002 a0013c0055t0006	a0001c0001t0007g0111 a0001c0001t0012g0047 a0001c0002t0002g0062 others(8): Show a0001c0001t0007g0111 a0001c0001t0012g0047 a0001c0002t0002g0062 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0010g0045 a0001c0002t0038g0096 a0001c0006t0002g0165 a0001c0011t0003g0120 a0007c0027t0002g0116 a0013c0055t0006g0150	11	59	0.1864	28	c.648 others(47): Show c.648+12317_648+12318insCCCATCCACCCATCCATCCATCCATC CA		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104735456	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03130.hp1 HG03017.hp1 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0001c0002t0001 a0002c0004t0001	a0001c0002t0001g0050 a0002c0004t0001g0001 a0001c0002t0001g0050 a0002c0004t0001g0001	2	14	0.1429	28	c.627 others(47): Show c.627+93523_627+93524insTTTTTTTTTTTTTTTTTTTTTTTTTT TT		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(21): Show GGAGGGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	42	0.0238	28	c.628 others(47): Show c.628-48167_628-48166insGGAGAGAGAGAGAGAGAGAGAGAGAG AG		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(21): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01243.hp2 HG02976.hp1 others(3): Show HG01169.hp1 HG01243.hp2 HG02976.hp1 HG04204.hp1 NA18943.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0002t0002	a0001c0001t0002g0017 a0001c0001t0002g0099 a0001c0001t0002g0101 others(3): Show a0001c0001t0002g0017 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0004g0107 a0001c0001t0010g0127 a0001c0002t0002g0053	6	21	0.2857	28	c.628 others(47): Show c.628-24415_628-24388dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC		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(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	34	0.0294	28	c.695 others(47): Show c.695+33863_695+33890dupCCTTCCTTCCTTCCTTCCTTCCTTCC TT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105243025	A A	ATATATAT others(21): Show ATATATATTTACATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01123.hp1 others(10): Show HG00140.hp1 HG00140.hp2 HG01123.hp1 HG01175.hp1 HG01346.hp1 HG01515.hp1 HG02647.hp1 HG02738.hp2 HG03139.hp2 HG03225.hp2 NA19030.hp2 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0040 others(10): Show a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0004g0048 a0001c0002t0001g0043 a0001c0002t0001g0051 a0001c0006t0001g0077	13	134	0.0970	28	c.286 others(47): Show c.2869-2506_2869-2479dupCATATATTTATATATATTTATATATT TA		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0002 a0002c0048t0002	a0002c0048t0002g0201 a0002c0048t0002g0201	1	11	0.0909	28	c.205 others(47): Show c.2051+1989_2051+2016dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA		SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47					INFO_REALIGN_3_PRIME	chr11	TogoVar
SORT1_chr1_109304575_109402918	109351965	G G	GGGGTGTG others(21): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0159 a0001c0005t0004g0159	1	30	0.0333	28	c.709 others(43): Show c.709-964_709-963insACACACACACACACACACACACACACCC		SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	5/19						chr1	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	50	0.0200	28	c.865 others(45): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22						chr2	TogoVar
SOS2_chr14_50112130_50236578	50209274	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18957.hp2 NA18995.hp1 HG02155.hp2 NA18957.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0003t0001g0351 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0003t0001g0351	3	36	0.0833	28	c.88- others(43): Show c.88-4893_88-4866dupACACACACACACACACACACACACACAC		SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22						chr14	TogoVar
SOWAHB_chr4_76889152_76903144	76896118	A A	ATGGCTGC others(21): Show ATGGCTGCAGACCCCCCCCCCCCCCCCCC	frameshift_variant frameshift_variant	HIGH	HG02074.hp2 HG02074.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0000 a0010c0015t0001g0000	1	436	0.0023	28	c.173 others(37): Show c.1731_1732insGGGGGGGGGGGGGGGGGGTCTGCAGCCA	p.Leu others(5): Show p.Leu578fs	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding	1/1	2026/3993	1731/2382	577/793			chr4	TogoVar
SOWAHC_chr2_109609364_109623990	109610095	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	348	0.0029	28	c.-43 others(39): Show c.-4395_-4394insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		SOWAHC	ENSG00000198142.5	transcript	ENST00000356454.5	protein_coding					4268		chr2	TogoVar
SOX30_chr5_157620679_157657438	157631051	A A	ATATATAT others(21): Show ATATATATATATATATAATATATATATTT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	367	0.0027	28	c.188 others(47): Show c.1881-4331_1881-4330insAAATATATATATTATATATATATATA TA		SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4						chr5	TogoVar
SOX5_chr12_23524504_23954670	23530798	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG01934.hp2 others(3): Show HG00609.hp2 HG00639.hp1 HG01934.hp2 HG02083.hp1 HG03098.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0040 a0001c0001t0063 a0001c0001t0078 others(3): Show a0001c0001t0040 a0001c0001t0063 a0001c0001t0078 a0001c0001t0117 a0001c0002t0046 a0001c0002t0052	a0001c0001t0040g0046 a0001c0001t0063g0140 a0001c0001t0078g0054 others(3): Show a0001c0001t0040g0046 a0001c0001t0063g0140 a0001c0001t0078g0054 a0001c0001t0117g0083 a0001c0002t0046g0161 a0001c0002t0052g0124	6	83	0.0723	28	c.34 others(39): Show c.3420_*3421insACACACACACACACACACACACACACAC		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15				3420		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp1 HG03540.hp1 HG02738.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0005 a0001c0001t0031g0031 a0001c0001t0031g0005 a0001c0001t0031g0031	2	154	0.0130	28	c.34 others(39): Show c.3400_*3401insGCGCGCGCGCACACACACACACACACAC		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15				3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG03704.hp1 NA18942.hp2 HG02723.hp2 HG03704.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0101 a0001c0001t0029 a0001c0001t0101	a0001c0001t0029g0027 a0001c0001t0029g0143 a0001c0001t0101g0145 a0001c0001t0029g0027 a0001c0001t0029g0143 a0001c0001t0101g0145	3	155	0.0194	28	c.34 others(39): Show c.3400_*3401insGCGCGCGCACACACACACACACACACAC		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15				3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0119 a0001c0001t0114g0119	1	153	0.0065	28	c.34 others(39): Show c.3400_*3401insGCGCACACACACACACACACACACACAC		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15				3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23837279	T T	TTATATTT others(21): Show TTATATTTATATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01106.hp2 HG02300.hp2 others(10): Show HG00609.hp1 HG01106.hp2 HG02300.hp2 HG02622.hp2 HG02717.hp1 HG02818.hp2 HG03098.hp2 HG03209.hp2 HG03492.hp2 HG03942.hp1 NA18973.hp1 NA18994.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0025 a0001c0001t0069 a0001c0001t0093 a0001c0001t0100 a0001c0001t0111 a0001c0001t0114 a0001c0002t0005	a0001c0001t0002g0006 a0001c0001t0002g0130 a0001c0001t0003g0120 others(10): Show a0001c0001t0002g0006 a0001c0001t0002g0130 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0153 a0001c0001t0015g0102 a0001c0001t0025g0118 a0001c0001t0069g0098 a0001c0001t0093g0192 a0001c0001t0100g0096 a0001c0001t0111g0104 a0001c0001t0114g0119 a0001c0002t0005g0101	13	106	0.1226	28	c.481 others(45): Show c.481+8676_481+8703dupTCTTATATATTATATAAATATAAATATA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23837755	C C	CTATATTT others(21): Show CTATATTTATATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02109.hp2 others(5): Show HG01069.hp1 HG01071.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02559.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0001t0036 a0001c0001t0120 a0001c0002t0048	a0001c0001t0001g0108 a0001c0001t0012g0109 a0001c0001t0012g0111 others(5): Show a0001c0001t0001g0108 a0001c0001t0012g0109 a0001c0001t0012g0111 a0001c0001t0014g0110 a0001c0001t0027g0106 a0001c0001t0036g0112 a0001c0001t0120g0107 a0001c0002t0048g0113	8	133	0.0602	28	c.481 others(45): Show c.481+8227_481+8228insTCTTATATATTATATAAATATAAATATA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23837783	C C	CTATATTT others(21): Show CTATATTTATATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03195.hp1 HG02738.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0086 a0001c0001t0031 a0001c0001t0086	a0001c0001t0031g0005 a0001c0001t0086g0024 a0001c0001t0031g0005 a0001c0001t0086g0024	2	94	0.0213	28	c.481 others(45): Show c.481+8199_481+8200insTCTTATATATTATATAAATATAAATATA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23837811	C C	CTATATTT others(21): Show CTATATTTATATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp1 NA21309.hp2 HG02647.hp1 HG03041.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0060 a0001c0001t0079 a0001c0001t0001 a0001c0001t0060 a0001c0001t0079	a0001c0001t0001g0157 a0001c0001t0060g0156 a0001c0001t0079g0197 a0001c0001t0001g0157 a0001c0001t0060g0156 a0001c0001t0079g0197	3	74	0.0405	28	c.481 others(45): Show c.481+8144_481+8171dupTCTTATATATTATATAAATATAAATATA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14						chr12	TogoVar
SOX6_chr11_15961449_16361546	15979042	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0077 a0001c0002t0003g0077	1	56	0.0179	28	c.218 others(47): Show c.2184-5931_2184-5930insATATATATATATATATATATATATAT AT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	15/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16107407	A A	ATATATAT others(21): Show ATATATATACATATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	142	0.0070	28	c.898 others(45): Show c.898+4395_898+4396insCATATATATACATATATATGTATATATA		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	7/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16125816	T T	TAGGAAGG others(21): Show TAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0192 a0001c0001t0007g0192	1	47	0.0213	28	c.778 others(47): Show c.778-13921_778-13894dupTCCTTCCTTCCTTCCTTCCTTCCTTC CT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16349674	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG01099.hp2 others(12): Show HG00544.hp1 HG01069.hp1 HG01099.hp2 HG01175.hp1 HG01952.hp2 HG02129.hp2 HG02273.hp1 HG02293.hp1 HG02717.hp1 NA18945.hp1 NA18948.hp2 NA18960.hp1 NA19060.hp1 NA19066.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0029 a0001c0001t0042 a0001c0002t0001 a0001c0002t0003 a0001c0003t0010	a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0173 others(12): Show a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0173 a0001c0001t0004g0096 a0001c0001t0004g0174 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0012g0048 a0001c0001t0029g0211 a0001c0001t0042g0215 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0003g0105 a0001c0003t0010g0100	15	137	0.1095	28	c.-5+ others(43): Show c.-5+6419_-5+6420insTCCTTCCTTCCTTCCTTCCTCCCTCCCT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15						chr11	TogoVar

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