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
SORCS1_chr10_106568663_107169706	106878620	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02723.hp2 NA21309.hp2 HG00544.hp2 HG02723.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0007 a0002c0006 a0001c0004 a0001c0007 a0002c0006	a0001c0004t0004 a0001c0007t0016 a0002c0006t0001 a0001c0004t0004 a0001c0007t0016 a0002c0006t0001	a0001c0004t0004g0107 a0001c0007t0016g0078 a0002c0006t0001g0105 a0001c0004t0004g0107 a0001c0007t0016g0078 a0002c0006t0001g0105	3	130	0.0231	18	c.627 others(37): Show c.627-48965_627-48948dupTATATATATATATATATA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106878646	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02040.hp2 HG02071.hp1 others(1): Show HG01433.hp1 HG02040.hp2 HG02071.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0002t0003 a0001c0003t0001 a0001c0001t0004 a0001c0002t0003 a0001c0003t0001	a0001c0001t0004g0004 a0001c0001t0004g0101 a0001c0002t0003g0026 others(1): Show a0001c0001t0004g0004 a0001c0001t0004g0101 a0001c0002t0003g0026 a0001c0003t0001g0119	4	130	0.0308	18	c.627 others(37): Show c.627-48974_627-48973insAATATATATATATATATA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106891504	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02896.hp1 HG01884.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0004 a0001c0001t0008 a0001c0002t0004	a0001c0001t0008g0001 a0001c0002t0004g0043 a0001c0001t0008g0001 a0001c0002t0004g0043	2	130	0.0154	18	c.627 others(37): Show c.627-61832_627-61831insAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106944874	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	130	0.0077	18	c.626 others(37): Show c.626+11621_626+11638dupAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106970336	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA21309.hp1 HG02559.hp1 NA21309.hp1	a0001 a0013 a0001 a0013	a0001c0014 a0013c0017 a0001c0014 a0013c0017	a0001c0014t0001 a0013c0017t0003 a0001c0014t0001 a0013c0017t0003	a0001c0014t0001g0068 a0013c0017t0003g0020 a0001c0014t0001g0068 a0013c0017t0003g0020	2	130	0.0154	18	c.559 others(37): Show c.559-13774_559-13757dupAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107034680	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	130	0.0077	18	c.559 others(37): Show c.559-78118_559-78101dupTTTTTTTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107165292	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	130	0.0077	18	c.-76 others(27): Show c.-767_-766insACACACACACACACACAC	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding		587		chr10	TogoVar
SORCS2_chr4_7187538_7747827	7219170	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp2 HG01346.hp2 others(5): Show HG00642.hp1 HG01261.hp2 HG01346.hp2 HG02015.hp2 HG02056.hp2 HG04228.hp1 NA19066.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0033 a0001c0049	a0001c0001t0007 a0001c0001t0032 a0001c0001t0069 others(5): Show a0001c0001t0007 a0001c0001t0032 a0001c0001t0069 a0001c0002t0047 a0001c0003t0002 a0001c0003t0016 a0001c0033t0009 a0001c0049t0001	a0001c0001t0007g0063 a0001c0001t0032g0141 a0001c0001t0069g0092 others(5): Show a0001c0001t0007g0063 a0001c0001t0032g0141 a0001c0001t0069g0092 a0001c0002t0047g0020 a0001c0003t0002g0073 a0001c0003t0016g0091 a0001c0033t0009g0093 a0001c0049t0001g0059	8	168	0.0476	18	c.480 others(37): Show c.480+26061_480+26062insGTGTGTGTGTGTGTGTGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7294887	C C	CCCTCCTC others(11): Show CCCTCCTCCTCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	168	0.0060	18	c.481 others(39): Show c.481-101390_481-101373dupTCCCTCCTCCTCCTCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7295013	C C	CCCTTCTC others(11): Show CCCTTCTCCTCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0125 a0001c0001t0013g0125	1	168	0.0060	18	c.481 others(39): Show c.481-101273_481-101272insTTCTCCTCTCCCTCCTCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7295033	C C	CCCCCCTC others(11): Show CCCCCCTCCTCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0161 a0001c0001t0072g0161	1	168	0.0060	18	c.481 others(39): Show c.481-101250_481-101233dupCTCCTCTCCCTCCTCCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7302767	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0014 a0001c0001t0009g0014	1	168	0.0060	18	c.481 others(37): Show c.481-93520_481-93519insGTGTGTGTGTGTGTGTGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373458	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0146 a0001c0048t0001g0146	1	168	0.0060	18	c.481 others(37): Show c.481-22826_481-22809dupATATATATATATATATAT	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(11): Show ATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0062 a0001c0026t0062	a0001c0026t0062g0049 a0001c0026t0062g0049	1	168	0.0060	18	c.481 others(37): Show c.481-22809_481-22808insATATATTTTTTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403959	G G	GTATGTAT others(11): Show GTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp2 HG02559.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0037 a0001c0002 a0001c0037	a0001c0002t0004 a0001c0037t0020 a0001c0002t0004 a0001c0037t0020	a0001c0002t0004g0018 a0001c0037t0020g0017 a0001c0002t0004g0018 a0001c0037t0020g0017	2	168	0.0119	18	c.548 others(35): Show c.548+7605_548+7606insATGTATATATATATATAT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403961	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0004 a0001c0002t0065g0004	1	168	0.0060	18	c.548 others(35): Show c.548+7626_548+7643dupATATATATATATATATAT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7453552	G G	GTGTGTTG others(11): Show GTGTGTTGGGGTCAGATGC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0076 a0001c0010t0076	a0001c0010t0076g0163 a0001c0010t0076g0163	1	168	0.0060	18	c.548 others(37): Show c.548+57211_548+57212insATGCTGTGTTGGGGTCAG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7455210	T T	TGTGTTGG others(11): Show TGTGTTGGGGTCAGGCTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp2 HG02717.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0037 a0001c0005 a0001c0037	a0001c0005t0001 a0001c0037t0020 a0001c0005t0001 a0001c0037t0020	a0001c0005t0001g0156 a0001c0037t0020g0017 a0001c0005t0001g0156 a0001c0037t0020g0017	2	168	0.0119	18	c.548 others(37): Show c.548+58871_548+58888dupTCCGTGTTGGGGTCAGGC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7455474	A A	ATTGGGGT others(11): Show ATTGGGGTCAGGCTCCGTG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0026 a0001c0030t0026	a0001c0030t0026g0144 a0001c0030t0026g0144	1	168	0.0060	18	c.548 others(37): Show c.548+59148_548+59165dupGCTCCGTGTTGGGGTCAG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7655202	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG03139.hp1 HG02280.hp2 HG02615.hp2 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0014 a0001c0041 a0001c0005 a0001c0014 a0001c0041	a0001c0005t0042 a0001c0014t0034 a0001c0041t0013 a0001c0005t0042 a0001c0014t0034 a0001c0041t0013	a0001c0005t0042g0157 a0001c0014t0034g0040 a0001c0041t0013g0031 a0001c0005t0042g0157 a0001c0014t0034g0040 a0001c0041t0013g0031	3	168	0.0179	18	c.887 others(35): Show c.887+1003_887+1020dupCACACACACACACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7655202	T T	TGTACACA others(11): Show TGTACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18522.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0015 a0001c0005t0014 a0001c0003t0015 a0001c0005t0014	a0001c0003t0015g0034 a0001c0005t0014g0102 a0001c0003t0015g0034 a0001c0005t0014g0102	2	168	0.0119	18	c.887 others(33): Show c.887+995_887+996insGTACACACACACACACAC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	5/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7685684	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0026 a0004c0007t0001g0026	1	168	0.0060	18	c.148 others(37): Show c.1488+2798_1488+2799insTATATATATATATATATA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724126	G G	GGTGGTGG others(11): Show GGTGGTGGTGGTGATGGTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG03453.hp2 HG01891.hp2 HG02451.hp1 HG03453.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0005 a0004c0007 a0005c0021 a0001c0005 a0004c0007 a0005c0021	a0001c0005t0014 a0004c0007t0001 a0005c0021t0070 a0001c0005t0014 a0004c0007t0001 a0005c0021t0070	a0001c0005t0014g0102 a0004c0007t0001g0026 a0005c0021t0070g0103 a0001c0005t0014g0102 a0004c0007t0001g0026 a0005c0021t0070g0103	3	168	0.0179	18	c.261 others(35): Show c.2611+255_2611+256insATGGTCGTGGTGGTGGTG	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(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02647.hp1 HG01106.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0076 a0001c0001t0002g0095 a0001c0001t0001g0076 a0001c0001t0002g0095	2	134	0.0149	18	c.627 others(37): Show c.627+29381_627+29398dupTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696006	T T	TATAATAT others(11): Show TATAATATATCATATACAC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	134	0.0075	18	c.627 others(37): Show c.627+54055_627+54056insATATATCATATACACATA	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(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	134	0.0075	18	c.627 others(37): Show c.627+93506_627+93523dupTTTTTTTTTTTTTTTTTT	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(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG01123.hp1 others(26): Show HG00140.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp1 HG01243.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01981.hp1 HG02622.hp1 HG02738.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03927.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp2 NA18970.hp2 NA18988.hp1 NA18995.hp2 NA19004.hp1 NA19079.hp1 NA20905.hp1	a0001 a0005 a0010 others(1): Show a0001 a0005 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0005c0007 a0010c0021 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0003t0003 a0005c0007t0001 a0010c0021t0001 a0011c0017t0003	a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0100 others(26): Show a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0063 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0004g0112 a0001c0001t0010g0127 a0001c0002t0001g0008 a0001c0002t0001g0035 a0001c0002t0001g0051 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0003g0070 a0001c0003t0003g0054 a0005c0007t0001g0061 a0005c0007t0001g0062 a0010c0021t0001g0117 a0011c0017t0003g0088	29	134	0.2164	18	c.628 others(37): Show c.628-56232_628-56215dupATAATAATAATAATAATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940204	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0004 a0013c0016t0004	a0013c0016t0004g0059 a0013c0016t0004g0059	1	134	0.0075	18	c.795 others(37): Show c.795+24290_795+24307dupATATATATATATATATAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104957554	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0078 a0001c0002t0007g0078	1	134	0.0075	18	c.796 others(37): Show c.796-19772_796-19755dupACACACACACACACACAC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105003998	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01123.hp2 others(1): Show HG00140.hp1 HG00642.hp2 HG01123.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0046 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0004g0048	4	134	0.0299	18	c.954 others(37): Show c.954+26506_954+26507insTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105125676	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG02922.hp1 others(1): Show HG01515.hp2 HG01517.hp2 HG02922.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0002 a0001c0002t0003 a0001c0018t0002 a0001c0001t0002 a0001c0002t0003 a0001c0018t0002	a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0002t0003g0060 others(1): Show a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0002t0003g0060 a0001c0018t0002g0064	4	134	0.0299	18	c.121 others(39): Show c.1213-13720_1213-13719insCACACACACACACACACA	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(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01433.hp1 HG02622.hp2 others(13): Show HG01346.hp2 HG01433.hp1 HG02622.hp2 HG02717.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 NA18906.hp1 NA18906.hp2 NA19010.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0009	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0005c0007 a0006c0010 a0009c0020	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0005t0001 a0002c0004t0001 a0005c0007t0001 a0006c0010t0001 a0009c0020t0001	a0001c0001t0001g0009 a0001c0002t0001g0008 a0001c0002t0001g0030 others(13): Show a0001c0001t0001g0009 a0001c0002t0001g0008 a0001c0002t0001g0030 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0002g0129 a0001c0002t0003g0070 a0001c0002t0003g0120 a0001c0002t0003g0128 a0001c0002t0005g0074 a0001c0005t0001g0081 a0002c0004t0001g0132 a0005c0007t0001g0061 a0005c0007t0001g0062 a0006c0010t0001g0068 a0009c0020t0001g0024	16	134	0.1194	18	c.121 others(39): Show c.1213-13705_1213-13688dupCACACACACACACACACA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105182230	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	134	0.0075	18	c.200 others(37): Show c.2009+4063_2009+4080dupTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105207272	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG01070.hp2 others(10): Show HG00609.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01891.hp1 HG01981.hp2 HG03453.hp1 HG03688.hp2 HG04115.hp1 HG04184.hp2 NA18988.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0003 a0003c0009 others(1): Show a0001c0001 a0001c0003 a0003c0009 a0007c0019	a0001c0001t0002 a0001c0003t0002 a0003c0009t0002 others(1): Show a0001c0001t0002 a0001c0003t0002 a0003c0009t0002 a0007c0019t0002	a0001c0001t0002g0014 a0001c0001t0002g0082 a0001c0001t0002g0083 others(10): Show a0001c0001t0002g0014 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0002g0115 a0001c0001t0002g0121 a0001c0003t0002g0010 a0003c0009t0002g0097 a0007c0019t0002g0109	13	134	0.0970	18	c.226 others(37): Show c.2262-3850_2262-3833dupATTATTATTATTATTATT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121540522	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01952.hp1 HG02273.hp2 others(7): Show HG00738.hp2 HG01952.hp1 HG02273.hp2 HG02300.hp2 HG02809.hp1 HG03688.hp2 HG06807.hp1 NA19009.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0031 a0001c0035 a0001c0061 others(1): Show a0001c0031 a0001c0035 a0001c0061 a0002c0005	a0001c0031t0010 a0001c0035t0003 a0001c0061t0011 others(4): Show a0001c0031t0010 a0001c0035t0003 a0001c0061t0011 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0009	a0001c0031t0010g0214 a0001c0035t0003g0169 a0001c0061t0011g0166 others(7): Show a0001c0031t0010g0214 a0001c0035t0003g0169 a0001c0061t0011g0166 a0002c0005t0001g0008 a0002c0005t0001g0042 a0002c0005t0001g0127 a0002c0005t0001g0223 a0002c0005t0003g0159 a0002c0005t0004g0043 a0002c0005t0009g0120	10	272	0.0368	18	c.168 others(37): Show c.1686-3012_1686-3011insAAAAAAAAAAAAAAAAAA	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(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0010 a0001c0031t0010	a0001c0031t0010g0214 a0001c0031t0010g0214	1	272	0.0037	18	c.205 others(37): Show c.2051+1999_2051+2016dupAAAAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORT1_chr1_109304575_109402918	109351965	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0160 a0001c0004t0004g0160	1	240	0.0042	18	c.709 others(33): Show c.709-981_709-964dupACACACACACACACACAC	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	5/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109378735	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0173 a0001c0004t0004g0173	1	240	0.0042	18	c.307 others(35): Show c.307-9147_307-9146insTTATATATATATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOS1_chr2_38976549_39126051	39110026	T T	TTGTGTGT others(11): Show TTGTGTGTGTGCGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18522.hp2 NA19030.hp1 HG02615.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0024 a0001c0001t0004 a0001c0001t0018 a0001c0001t0024	a0001c0001t0004g0007 a0001c0001t0018g0047 a0001c0001t0024g0046 a0001c0001t0004g0007 a0001c0001t0018g0047 a0001c0001t0024g0046	3	246	0.0122	18	c.87+ others(35): Show c.87+10309_87+10310insCACACACGCACACACACA	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39122708	G G	GTGGGGGT others(11): Show GTGGGGGTTTAAATGTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0193 a0001c0001t0036g0193	1	246	0.0041	18	c.-22 others(29): Show c.-2287_-2286insTTTACATTTAAACCCCCA	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding		1658		chr2	TogoVar
SOS2_chr14_50112130_50236578	50113915	C C	CAAAACAA others(11): Show CAAAACAAAAACAAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00558.hp2 others(83): Show HG00140.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02155.hp2 HG02523.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02896.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18940.hp1 NA18943.hp2 NA18945.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18974.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18991.hp2 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19011.hp2 NA19012.hp2 NA19063.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19078.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0009	a0001c0001 a0001c0003 a0004c0014 others(2): Show a0001c0001 a0001c0003 a0004c0014 a0006c0009 a0009c0013	a0001c0001t0001 a0001c0003t0001 a0004c0014t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0004c0014t0001 a0006c0009t0001 a0009c0013t0001	a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 others(83): Show a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0149 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0308 a0001c0001t0001g0358 a0001c0003t0001g0348 a0001c0003t0001g0349 a0001c0003t0001g0350 a0001c0003t0001g0351 a0001c0003t0001g0352 a0004c0014t0001g0296 a0006c0009t0001g0255 a0009c0013t0001g0134	86	382	0.2251	18	c.44 others(29): Show c.4428_*4429insTGTTTTTGTTTTTGTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding		3214		chr14	TogoVar
SOS2_chr14_50112130_50236578	50156257	T T	TGTACACA others(11): Show TGTACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03139.hp2 HG03195.hp1 others(1): Show HG02559.hp1 HG03139.hp2 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 others(1): Show a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0005g0138	4	382	0.0105	18	c.205 others(35): Show c.2057+741_2057+742insGTGTGTGTGTGTGTGTAC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	12/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50209274	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp1 HG02074.hp1 others(11): Show HG00639.hp1 HG01192.hp1 HG02074.hp1 HG02630.hp2 NA18940.hp1 NA18952.hp1 NA18960.hp1 NA18964.hp1 NA18974.hp1 NA18982.hp2 NA18984.hp2 NA18991.hp2 NA19070.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0231 others(11): Show a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0273 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0308	14	382	0.0367	18	c.88- others(33): Show c.88-4883_88-4866dupACACACACACACACACAC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50220405	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 NA19000.hp2 HG02895.hp1 HG02897.hp1 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0086 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0086	3	382	0.0079	18	c.87+ others(35): Show c.87+10791_87+10792insTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOWAHC_chr2_109609364_109623990	109619183	A A	AAAAGCTG others(11): Show AAAAGCTGTTAGTAAGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	432	0.0023	18	c.31 others(29): Show c.3116_*3117insAAAGCTGTTAGTAAGATT	SOWAHC	ENSG00000198142.5	transcript	ENST00000356454.5	protein_coding		194		chr2	TogoVar
SOX11_chr2_5687384_5706385	5688834	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00642.hp2 others(38): Show HG00140.hp2 HG00558.hp1 HG00642.hp2 HG00738.hp2 HG01071.hp2 HG01099.hp1 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG02055.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02615.hp2 HG02735.hp1 HG02886.hp1 HG02922.hp2 HG03225.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18947.hp2 NA18951.hp1 NA18963.hp2 NA18970.hp2 NA18973.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0031 a0001c0001t0033 a0001c0001t0036 a0001c0001t0039 a0001c0001t0054 a0001c0001t0067 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0079 a0001c0001t0096 a0001c0001t0100 a0001c0001t0149 a0001c0001t0155 a0001c0001t0163 a0001c0001t0167 a0001c0001t0204	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(23): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0009g0000 a0001c0001t0014g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0026g0000 a0001c0001t0031g0000 a0001c0001t0033g0000 a0001c0001t0036g0000 a0001c0001t0039g0000 a0001c0001t0054g0000 a0001c0001t0067g0000 a0001c0001t0074g0000 a0001c0001t0075g0000 a0001c0001t0076g0000 a0001c0001t0079g0000 a0001c0001t0096g0000 a0001c0001t0100g0000 a0001c0001t0149g0000 a0001c0001t0155g0000 a0001c0001t0163g0000 a0001c0001t0167g0000 a0001c0001t0204g0000	41	434	0.0945	18	c.-38 others(29): Show c.-3888_-3887insTGTGTGTGTGTGTGTGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		3549		chr2	TogoVar
SOX30_chr5_157620679_157657438	157632047	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01070.hp2 others(6): Show HG00558.hp2 HG00621.hp1 HG01070.hp2 HG01167.hp2 HG01169.hp1 HG02622.hp2 NA18906.hp1 NA18964.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0025 a0001c0001t0002g0123 a0001c0001t0002g0124 others(5): Show a0001c0001t0002g0025 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0084 a0001c0002t0001g0085	9	394	0.0228	18	c.188 others(37): Show c.1881-5344_1881-5327dupTTTTTTTTTTTTTTTTTT	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX5_chr12_23524504_23954670	23530798	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01981.hp1 others(19): Show HG01516.hp2 HG01517.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02257.hp1 HG02300.hp1 HG02622.hp2 HG02647.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG04184.hp1 HG04204.hp1 NA19072.hp2 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 others(5): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0026 a0001c0001t0039 a0001c0001t0049 a0001c0001t0066	a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0120 others(19): Show a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0153 a0001c0001t0003g0208 a0001c0001t0009g0017 a0001c0001t0009g0041 a0001c0001t0009g0053 a0001c0001t0009g0057 a0001c0001t0009g0187 a0001c0001t0013g0044 a0001c0001t0013g0045 a0001c0001t0013g0177 a0001c0001t0016g0088 a0001c0001t0016g0147 a0001c0001t0016g0199 a0001c0001t0026g0012 a0001c0001t0026g0127 a0001c0001t0039g0004 a0001c0001t0049g0021 a0001c0001t0066g0048	22	212	0.1038	18	c.34 others(29): Show c.3403_*3420dupACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3420		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0142 a0001c0001t0056g0142	1	212	0.0047	18	c.34 others(29): Show c.3400_*3401insGCACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp2 HG03942.hp2 others(1): Show HG02717.hp2 HG03209.hp2 HG03942.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0068 others(1): Show a0001c0001t0001 a0001c0001t0027 a0001c0001t0068 a0001c0001t0114	a0001c0001t0001g0172 a0001c0001t0027g0146 a0001c0001t0068g0060 others(1): Show a0001c0001t0001g0172 a0001c0001t0027g0146 a0001c0001t0068g0060 a0001c0001t0114g0119	4	212	0.0189	18	c.116 others(37): Show c.1165-2297_1165-2280dupTTTTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar

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