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	106822782	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02273.hp1 HG01258.hp2 HG02273.hp1	a0001 a0009 a0001 a0009	a0001c0027 a0009c0020 a0001c0027 a0009c0020	a0001c0027t0002 a0009c0020t0001 a0001c0027t0002 a0009c0020t0001	a0001c0027t0002g0123 a0009c0020t0001g0098 a0001c0027t0002g0123 a0009c0020t0001g0098	2	92	0.0217	11	c.726 others(28): Show c.726+6781_726+6791dupAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	3/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106878649	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0011 a0012c0021t0011	a0012c0021t0011g0076 a0012c0021t0011g0076	1	130	0.0077	11	c.627 others(30): Show c.627-48977_627-48976insTATATATATAT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106891504	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02257.hp1 HG02280.hp2 others(3): Show HG00438.hp1 HG02257.hp1 HG02280.hp2 HG02717.hp2 HG03098.hp2 NA18977.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0002 a0001c0009 a0001c0013 others(2): Show a0001c0002 a0001c0009 a0001c0013 a0005c0010 a0006c0026	a0001c0002t0001 a0001c0002t0003 a0001c0009t0010 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0009t0010 a0001c0013t0007 a0005c0010t0001 a0006c0026t0001	a0001c0002t0001g0041 a0001c0002t0003g0106 a0001c0009t0010g0039 others(3): Show a0001c0002t0001g0041 a0001c0002t0003g0106 a0001c0009t0010g0039 a0001c0013t0007g0065 a0005c0010t0001g0125 a0006c0026t0001g0064	6	50	0.1200	11	c.627 others(30): Show c.627-61842_627-61832dupAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106944871	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01243.hp2 HG02723.hp1 others(3): Show HG00609.hp2 HG01243.hp2 HG02723.hp1 HG02735.hp2 HG02976.hp1 NA18971.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0005c0010 a0008c0029	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0003t0001 a0005c0010t0001 a0008c0029t0005	a0001c0001t0001g0024 a0001c0001t0004g0072 a0001c0002t0003g0071 others(3): Show a0001c0001t0001g0024 a0001c0001t0004g0072 a0001c0002t0003g0071 a0001c0003t0001g0056 a0005c0010t0001g0126 a0008c0029t0005g0127	6	77	0.0779	11	c.626 others(30): Show c.626+11641_626+11642insAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106963110	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01496.hp1 NA19074.hp1 HG00597.hp1 HG01496.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0002 a0001c0001t0001 a0001c0001t0003 a0001c0004t0002	a0001c0001t0001g0110 a0001c0001t0003g0083 a0001c0004t0002g0102 a0001c0001t0001g0110 a0001c0001t0003g0083 a0001c0004t0002g0102	3	28	0.1071	11	c.559 others(28): Show c.559-6541_559-6531dupAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106976333	G G	GGTTTTTT others(4): Show GGTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0086 a0001c0003t0001g0086	1	75	0.0133	11	c.559 others(30): Show c.559-19754_559-19753insACAAAAAAAAC	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106976333	G G	GTTTTGTT others(4): Show GTTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0090 a0001c0003t0001g0090	1	75	0.0133	11	c.559 others(30): Show c.559-19754_559-19753insACAAAACAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106976333	G G	GTTTTTTT others(4): Show GTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01891.hp2 HG02056.hp1 others(18): Show HG00597.hp1 HG01891.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp2 HG03139.hp2 HG03516.hp2 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA19074.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0022 a0004c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0004t0002 a0001c0004t0007 a0001c0004t0013 a0001c0005t0001 a0001c0007t0021 a0001c0022t0001 a0004c0023t0006	a0001c0001t0001g0006 a0001c0001t0001g0055 a0001c0001t0001g0087 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0055 a0001c0001t0001g0087 a0001c0001t0001g0110 a0001c0001t0002g0012 a0001c0001t0002g0059 a0001c0001t0003g0083 a0001c0001t0004g0015 a0001c0001t0004g0060 a0001c0002t0001g0122 a0001c0002t0002g0028 a0001c0002t0003g0058 a0001c0003t0001g0056 a0001c0003t0001g0100 a0001c0004t0002g0115 a0001c0004t0007g0002 a0001c0004t0013g0013 a0001c0005t0001g0052 a0001c0007t0021g0113 a0001c0022t0001g0010 a0004c0023t0006g0091	21	95	0.2211	11	c.559 others(30): Show c.559-19754_559-19753insACAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106976338	T T	TTTTTGTT others(4): Show TTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG02886.hp2 others(3): Show HG02615.hp2 HG02717.hp1 HG02886.hp2 NA18522.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0005t0002 a0001c0007t0016	a0001c0001t0002g0074 a0001c0002t0001g0037 a0001c0002t0006g0051 others(3): Show a0001c0001t0002g0074 a0001c0002t0001g0037 a0001c0002t0006g0051 a0001c0003t0001g0089 a0001c0005t0002g0022 a0001c0007t0016g0078	6	130	0.0462	11	c.559 others(30): Show c.559-19759_559-19758insCAAAAACAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106994086	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0043 a0001c0002t0004g0043	1	67	0.0149	11	c.559 others(30): Show c.559-37507_559-37506insCTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107034680	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp2 HG03225.hp1 others(1): Show HG02622.hp2 HG02965.hp2 HG03225.hp1 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0006 a0003c0008 others(1): Show a0001c0001 a0002c0006 a0003c0008 a0010c0012	a0001c0001t0002 a0002c0006t0001 a0003c0008t0005 others(1): Show a0001c0001t0002 a0002c0006t0001 a0003c0008t0005 a0010c0012t0005	a0001c0001t0002g0061 a0002c0006t0001g0017 a0003c0008t0005g0018 others(1): Show a0001c0001t0002g0061 a0002c0006t0001g0017 a0003c0008t0005g0018 a0010c0012t0005g0067	4	29	0.1379	11	c.559 others(30): Show c.559-78111_559-78101dupTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7338173	A A	ATGGATGG others(4): Show ATGGATGGATGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00642.hp2 others(87): Show HG00099.hp2 HG00323.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18962.hp1 NA19000.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0013 a0017 a0018	a0001c0001 a0001c0002 a0001c0003 others(35): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0016 a0001c0017 a0001c0029 a0001c0030 a0001c0033 a0001c0034 a0001c0036 a0001c0041 a0001c0047 a0001c0048 a0001c0051 a0001c0053 a0002c0004 a0003c0013 a0003c0042 a0003c0046 a0004c0007 a0004c0044 a0005c0018 a0005c0020 a0005c0021 a0006c0008 a0006c0045 a0007c0027 a0008c0056 a0012c0039 a0013c0055 a0017c0019 a0018c0025	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(76): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0036 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0042 a0001c0002t0051 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0011 a0001c0003t0014 a0001c0003t0015 a0001c0003t0020 a0001c0003t0023 a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 a0001c0005t0006 a0001c0005t0008 a0001c0005t0016 a0001c0006t0002 a0001c0006t0003 a0001c0006t0052 a0001c0009t0001 a0001c0009t0028 a0001c0009t0037 a0001c0010t0059 a0001c0010t0060 a0001c0011t0015 a0001c0015t0011 a0001c0016t0001 a0001c0016t0006 a0001c0017t0002 a0001c0017t0015 a0001c0029t0061 a0001c0030t0021 a0001c0033t0062 a0001c0034t0005 a0001c0036t0040 a0001c0041t0006 a0001c0047t0057 a0001c0048t0001 a0001c0051t0001 a0001c0053t0001 a0002c0004t0004 a0002c0004t0005 a0002c0004t0022 a0003c0013t0030 a0003c0042t0004 a0003c0046t0001 a0004c0007t0001 a0004c0007t0014 a0004c0044t0041 a0005c0018t0043 a0005c0020t0017 a0005c0021t0056 a0006c0008t0001 a0006c0008t0006 a0006c0045t0001 a0007c0027t0002 a0008c0056t0018 a0012c0039t0049 a0013c0055t0006 a0017c0019t0013 a0018c0025t0019	a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0003g0003 others(87): Show a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0003g0003 a0001c0001t0003g0097 a0001c0001t0003g0138 a0001c0001t0003g0168 a0001c0001t0004g0098 a0001c0001t0005g0085 a0001c0001t0006g0125 a0001c0001t0007g0055 a0001c0001t0012g0137 a0001c0001t0013g0011 a0001c0001t0036g0106 a0001c0001t0054g0007 a0001c0001t0055g0092 a0001c0001t0058g0161 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0002t0003g0028 a0001c0002t0004g0131 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0008g0008 a0001c0002t0008g0121 a0001c0002t0042g0050 a0001c0002t0051g0004 a0001c0003t0004g0088 a0001c0003t0005g0086 a0001c0003t0009g0135 a0001c0003t0010g0001 a0001c0003t0011g0080 a0001c0003t0014g0034 a0001c0003t0015g0091 a0001c0003t0020g0043 a0001c0003t0023g0147 a0001c0005t0001g0156 a0001c0005t0003g0032 a0001c0005t0003g0101 a0001c0005t0005g0102 a0001c0005t0006g0157 a0001c0005t0008g0154 a0001c0005t0016g0104 a0001c0006t0002g0118 a0001c0006t0002g0165 a0001c0006t0003g0117 a0001c0006t0052g0084 a0001c0009t0001g0151 a0001c0009t0028g0038 a0001c0009t0037g0042 a0001c0010t0059g0163 a0001c0010t0060g0167 a0001c0011t0015g0077 a0001c0015t0011g0002 a0001c0016t0001g0009 a0001c0016t0006g0039 a0001c0017t0002g0056 a0001c0017t0015g0124 a0001c0029t0061g0162 a0001c0030t0021g0109 a0001c0033t0062g0160 a0001c0034t0005g0093 a0001c0036t0040g0022 a0001c0041t0006g0031 a0001c0047t0057g0051 a0001c0048t0001g0146 a0001c0051t0001g0068 a0001c0053t0001g0044 a0002c0004t0004g0012 a0002c0004t0005g0083 a0002c0004t0022g0057 a0003c0013t0030g0041 a0003c0042t0004g0066 a0003c0046t0001g0164 a0004c0007t0001g0026 a0004c0007t0001g0126 a0004c0007t0014g0166 a0004c0044t0041g0016 a0005c0018t0043g0145 a0005c0020t0017g0037 a0005c0021t0056g0103 a0006c0008t0001g0006 a0006c0008t0001g0029 a0006c0008t0006g0155 a0006c0045t0001g0148 a0007c0027t0002g0116 a0008c0056t0018g0061 a0012c0039t0049g0064 a0013c0055t0006g0150 a0017c0019t0013g0027 a0018c0025t0019g0025	90	168	0.5357	11	c.481 others(30): Show c.481-58108_481-58098dupGATGTTGGATG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7351709	C C	CCATCCAT others(4): Show CCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01346.hp1 HG02280.hp2 others(6): Show HG00099.hp1 HG01346.hp1 HG02280.hp2 HG02300.hp2 HG03017.hp1 HG03540.hp2 NA18962.hp2 NA19066.hp1 NA19240.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0018	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0001c0041 a0002c0004 a0005c0018 a0009c0024 a0018c0025	a0001c0001t0002 a0001c0002t0044 a0001c0009t0037 others(6): Show a0001c0001t0002 a0001c0002t0044 a0001c0009t0037 a0001c0041t0006 a0002c0004t0002 a0002c0004t0005 a0005c0018t0043 a0009c0024t0002 a0018c0025t0019	a0001c0001t0002g0130 a0001c0002t0044g0019 a0001c0009t0037g0042 others(6): Show a0001c0001t0002g0130 a0001c0002t0044g0019 a0001c0009t0037g0042 a0001c0041t0006g0031 a0002c0004t0002g0013 a0002c0004t0005g0110 a0005c0018t0043g0145 a0009c0024t0002g0108 a0018c0025t0019g0025	9	118	0.0763	11	c.481 others(30): Show c.481-44578_481-44577insATCCATCCATC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7360571	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01361.hp1 others(2): Show HG01109.hp1 HG01109.hp2 HG01361.hp1 HG03579.hp2 NA18906.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0003c0035 a0008c0056	a0001c0002t0001 a0001c0003t0009 a0001c0010t0059 others(2): Show a0001c0002t0001 a0001c0003t0009 a0001c0010t0059 a0003c0035t0008 a0008c0056t0018	a0001c0002t0001g0123 a0001c0003t0009g0135 a0001c0010t0059g0163 others(2): Show a0001c0002t0001g0123 a0001c0003t0009g0135 a0001c0010t0059g0163 a0003c0035t0008g0075 a0008c0056t0018g0061	5	9	0.5556	11	c.481 others(30): Show c.481-35702_481-35692dupTTTTTTTTTTT	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(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0018 a0018	a0018c0025 a0018c0025	a0018c0025t0019 a0018c0025t0019	a0018c0025t0019g0025 a0018c0025t0019g0025	1	31	0.0323	11	c.481 others(30): Show c.481-22809_481-22808insATATATTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373479	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0017 a0005c0020t0017	a0005c0020t0017g0037 a0005c0020t0017g0037	1	161	0.0062	11	c.481 others(30): Show c.481-22809_481-22808insATATATATATA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403997	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02148.hp2 HG01934.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0067 a0001c0001t0012g0137 a0001c0001t0002g0067 a0001c0001t0012g0137	2	147	0.0136	11	c.548 others(28): Show c.548+7643_548+7644insATATATATTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448947	C C	CCTCCCTC others(4): Show CCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01167.hp2 others(8): Show HG00642.hp1 HG00733.hp1 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG01934.hp2 HG02258.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp2 HG03471.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0049 a0002c0004 a0013c0055	a0001c0001t0003 a0001c0001t0013 a0001c0001t0024 others(7): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0024 a0001c0002t0003 a0001c0005t0006 a0001c0011t0015 a0001c0011t0045 a0001c0049t0001 a0002c0004t0004 a0013c0055t0006	a0001c0001t0003g0003 a0001c0001t0013g0099 a0001c0001t0024g0071 others(8): Show a0001c0001t0003g0003 a0001c0001t0013g0099 a0001c0001t0024g0071 a0001c0001t0024g0072 a0001c0002t0003g0082 a0001c0005t0006g0157 a0001c0011t0015g0077 a0001c0011t0045g0107 a0001c0049t0001g0059 a0002c0004t0004g0046 a0013c0055t0006g0150	11	157	0.0701	11	c.548 others(30): Show c.548+52593_548+52594insTCCCTCCCTTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448994	C C	CCCTCCCT others(4): Show CCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0083 a0002c0004t0005g0083	1	148	0.0068	11	c.548 others(30): Show c.548+52639_548+52640insCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448997	T T	TCCCTCCC others(4): Show TCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0002 a0007c0027t0002	a0007c0027t0002g0116 a0007c0027t0002g0116	1	128	0.0078	11	c.548 others(30): Show c.548+52642_548+52643insCCCTCCCTCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448997	T T	TCCCTTCC others(4): Show TCCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG01261.hp1 others(8): Show HG00642.hp1 HG01106.hp2 HG01261.hp1 HG01934.hp2 HG02055.hp1 HG02132.hp1 HG02258.hp2 HG02486.hp1 HG02615.hp2 HG03471.hp2 HG04228.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0049 a0013c0055	a0001c0001t0002 a0001c0001t0013 a0001c0001t0029 others(8): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0029 a0001c0002t0003 a0001c0002t0007 a0001c0005t0006 a0001c0011t0003 a0001c0011t0015 a0001c0011t0045 a0001c0049t0001 a0013c0055t0006	a0001c0001t0002g0089 a0001c0001t0013g0099 a0001c0001t0029g0141 others(8): Show a0001c0001t0002g0089 a0001c0001t0013g0099 a0001c0001t0029g0141 a0001c0002t0003g0082 a0001c0002t0007g0076 a0001c0005t0006g0157 a0001c0011t0003g0120 a0001c0011t0015g0077 a0001c0011t0045g0107 a0001c0049t0001g0059 a0013c0055t0006g0150	11	138	0.0797	11	c.548 others(30): Show c.548+52642_548+52643insCCCTTCCTCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449143	C C	CCCTCCCT others(4): Show CCCTCCCTTCCG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	153	0.0065	11	c.548 others(30): Show c.548+52788_548+52789insCCTCCCTTCCG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449171	T T	TCCCTCCC others(4): Show TCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02486.hp1 HG02615.hp2 others(1): Show HG01261.hp1 HG02486.hp1 HG02615.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0011 a0001c0001 a0001c0005 a0001c0011	a0001c0001t0013 a0001c0005t0006 a0001c0011t0015 others(1): Show a0001c0001t0013 a0001c0005t0006 a0001c0011t0015 a0001c0011t0045	a0001c0001t0013g0099 a0001c0005t0006g0157 a0001c0011t0015g0077 others(1): Show a0001c0001t0013g0099 a0001c0005t0006g0157 a0001c0011t0015g0077 a0001c0011t0045g0107	4	141	0.0284	11	c.548 others(30): Show c.548+52816_548+52817insCCCTCCCTCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449171	T T	TCCCTTCC others(4): Show TCCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0071 a0001c0001t0024g0072 a0001c0001t0024g0071 a0001c0001t0024g0072	2	139	0.0144	11	c.548 others(30): Show c.548+52816_548+52817insCCCTTCCTCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7601671	G G	GTTTGTTT others(4): Show GTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01069.hp2 others(16): Show HG00099.hp2 HG00642.hp1 HG01069.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp2 HG01891.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG03017.hp1 HG03139.hp1 HG03209.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0014 a0018	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0014 a0001c0015 a0001c0036 a0001c0049 a0002c0004 a0004c0007 a0005c0021 a0005c0022 a0014c0052 a0018c0025	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0008 a0001c0003t0014 a0001c0006t0002 a0001c0014t0001 a0001c0015t0011 a0001c0036t0040 a0001c0049t0001 a0002c0004t0004 a0004c0007t0014 a0005c0021t0056 a0005c0022t0033 a0014c0052t0003 a0018c0025t0019	a0001c0001t0002g0130 a0001c0001t0003g0097 a0001c0001t0005g0085 others(16): Show a0001c0001t0002g0130 a0001c0001t0003g0097 a0001c0001t0005g0085 a0001c0001t0006g0125 a0001c0002t0001g0123 a0001c0002t0008g0008 a0001c0003t0014g0034 a0001c0006t0002g0165 a0001c0014t0001g0040 a0001c0015t0011g0002 a0001c0015t0011g0015 a0001c0036t0040g0022 a0001c0049t0001g0059 a0002c0004t0004g0012 a0004c0007t0014g0166 a0005c0021t0056g0103 a0005c0022t0033g0153 a0014c0052t0003g0030 a0018c0025t0019g0025	19	167	0.1138	11	c.649 others(30): Show c.649-36650_649-36649insGTTTTTTGTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706449	G G	GCTGGGCT others(4): Show GCTGGGCTCCGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0015 a0015	a0015c0054 a0015c0054	a0015c0054t0020 a0015c0054t0020	a0015c0054t0020g0113 a0015c0054t0020g0113	1	159	0.0063	11	c.186 others(30): Show c.1868+2171_1868+2172insTCCGTCTGGGC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706449	G G	GCTGGGCT others(4): Show GCTGGGCTCTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG02572.hp1 others(3): Show HG00639.hp1 HG01243.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02976.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0016 a0003c0042 a0004c0007 others(2): Show a0001c0016 a0003c0042 a0004c0007 a0004c0043 a0004c0044	a0001c0016t0006 a0003c0042t0004 a0004c0007t0001 others(3): Show a0001c0016t0006 a0003c0042t0004 a0004c0007t0001 a0004c0007t0014 a0004c0043t0031 a0004c0044t0041	a0001c0016t0006g0039 a0003c0042t0004g0066 a0004c0007t0001g0126 others(3): Show a0001c0016t0006g0039 a0003c0042t0004g0066 a0004c0007t0001g0126 a0004c0007t0014g0166 a0004c0043t0031g0058 a0004c0044t0041g0016	6	164	0.0366	11	c.186 others(30): Show c.1868+2171_1868+2172insTCTGTCTGGGC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104735456	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01071.hp2 others(6): Show HG00140.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01192.hp1 HG01257.hp2 HG01891.hp1 HG01981.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0003c0009t0002	a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0042 others(6): Show a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0002g0014 a0001c0001t0002g0084 a0001c0001t0004g0045 a0001c0001t0004g0048 a0003c0009t0002g0096 a0003c0009t0002g0097	9	21	0.4286	11	c.627 others(30): Show c.627+93513_627+93523dupTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940238	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0001	1	99	0.0101	11	c.795 others(30): Show c.795+24307_795+24308insATATATATATT	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(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp2 HG01358.hp1 others(3): Show HG01099.hp1 HG01167.hp2 HG01358.hp1 HG01981.hp2 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0005t0001	a0001c0001t0002g0014 a0001c0001t0004g0039 a0001c0001t0004g0045 others(3): Show a0001c0001t0002g0014 a0001c0001t0004g0039 a0001c0001t0004g0045 a0001c0002t0002g0053 a0001c0005t0001g0007 a0001c0005t0001g0092	6	62	0.0968	11	c.954 others(30): Show c.954+26506_954+26507insTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105045037	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02809.hp1 others(2): Show HG01884.hp1 HG01891.hp2 HG02809.hp1 HG02922.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0013 a0001c0002 a0002c0013	a0001c0002t0001 a0001c0002t0003 a0002c0013t0002 a0001c0002t0001 a0001c0002t0003 a0002c0013t0002	a0001c0002t0001g0052 a0001c0002t0001g0085 a0001c0002t0003g0006 others(2): Show a0001c0002t0001g0052 a0001c0002t0001g0085 a0001c0002t0003g0006 a0001c0002t0003g0118 a0002c0013t0002g0131	5	122	0.0410	11	c.102 others(30): Show c.1028+1911_1028+1912insGAAAGAAAGAA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105092608	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0055 a0001c0003t0003g0055	1	46	0.0217	11	c.109 others(30): Show c.1093+2769_1093+2770insCACACACACAC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	6/26			chr10	TogoVar
SORCS3_chr10_104636290_105270242	105182230	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01358.hp2 HG01981.hp2 others(5): Show HG01257.hp1 HG01358.hp2 HG01981.hp2 HG03098.hp1 HG03688.hp2 HG04115.hp1 HG04184.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0015t0002 a0001c0001t0002 a0001c0015t0002	a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0065 others(5): Show a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0065 a0001c0001t0002g0087 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0015t0002g0130	8	17	0.4706	11	c.200 others(30): Show c.2009+4070_2009+4080dupTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORD_chr15_45018195_45082185	45078218	T T	TCTCCTTA others(4): Show TCTCCTTAAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02895.hp2 HG02897.hp2 others(1): Show HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03579.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0011 a0002c0007t0011	a0002c0007t0011g0087 a0002c0007t0011g0097 a0002c0007t0011g0098 others(1): Show a0002c0007t0011g0087 a0002c0007t0011g0097 a0002c0007t0011g0098 a0002c0007t0011g0278	4	306	0.0131	11	c.46 others(22): Show c.4688_*4689insCTCCTTAAGTA	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding		1034		chr15	TogoVar
SORL1_chr11_121447314_121638763	121540522	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0054 a0001c0016t0002g0054	1	26	0.0385	11	c.168 others(30): Show c.1686-3022_1686-3012dupAAAAAAAAAAA	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(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03139.hp2 HG03225.hp1 others(2): Show HG02809.hp2 HG03139.hp2 HG03225.hp1 NA19043.hp1 NA21309.hp2	a0001 a0016 a0001 a0016	a0001c0009 a0001c0010 a0001c0036 others(2): Show a0001c0009 a0001c0010 a0001c0036 a0001c0039 a0016c0047	a0001c0009t0011 a0001c0010t0003 a0001c0036t0003 others(2): Show a0001c0009t0011 a0001c0010t0003 a0001c0036t0003 a0001c0039t0002 a0016c0047t0007	a0001c0009t0011g0255 a0001c0010t0003g0257 a0001c0036t0003g0266 others(2): Show a0001c0009t0011g0255 a0001c0010t0003g0257 a0001c0036t0003g0266 a0001c0039t0002g0267 a0016c0047t0007g0182	5	15	0.3333	11	c.205 others(30): Show c.2051+2006_2051+2016dupAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORT1_chr1_109304575_109402918	109375541	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00639.hp1 others(56): Show HG00140.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01891.hp1 HG01952.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18944.hp1 NA18946.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0002 a0001c0003 a0001c0005 others(4): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0002c0006 a0005c0010 a0006c0014	a0001c0002t0003 a0001c0002t0006 a0001c0003t0004 others(14): Show a0001c0002t0003 a0001c0002t0006 a0001c0003t0004 a0001c0003t0005 a0001c0003t0010 a0001c0003t0018 a0001c0003t0024 a0001c0003t0026 a0001c0003t0034 a0001c0005t0004 a0001c0005t0038 a0001c0007t0035 a0001c0007t0036 a0002c0006t0003 a0002c0006t0016 a0005c0010t0005 a0006c0014t0003	a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0195 others(56): Show a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0195 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0211 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0006g0194 a0001c0002t0006g0196 a0001c0002t0006g0232 a0001c0002t0006g0236 a0001c0003t0004g0176 a0001c0003t0004g0177 a0001c0003t0004g0178 a0001c0003t0004g0180 a0001c0003t0005g0025 a0001c0003t0005g0026 a0001c0003t0010g0148 a0001c0003t0010g0150 a0001c0003t0010g0152 a0001c0003t0018g0151 a0001c0003t0024g0005 a0001c0003t0026g0149 a0001c0003t0034g0173 a0001c0005t0004g0158 a0001c0005t0004g0159 a0001c0005t0038g0160 a0001c0007t0035g0198 a0001c0007t0036g0221 a0002c0006t0003g0230 a0002c0006t0003g0231 a0002c0006t0016g0228 a0002c0006t0016g0229 a0005c0010t0005g0021 a0006c0014t0003g0197	59	76	0.7763	11	c.307 others(28): Show c.307-5963_307-5953dupTTTTTTTTTTT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOS1_chr2_38976549_39126051	39003066	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp1 HG01993.hp1 others(15): Show HG01106.hp2 HG01361.hp1 HG01993.hp1 HG02559.hp1 HG02572.hp2 HG02922.hp2 HG02965.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA18952.hp1 NA18956.hp1 NA18982.hp1 NA18995.hp2 NA19003.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0033 a0001c0002t0004	a0001c0001t0004g0025 a0001c0001t0004g0048 a0001c0001t0005g0100 others(15): Show a0001c0001t0004g0025 a0001c0001t0004g0048 a0001c0001t0005g0100 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0145 a0001c0001t0033g0184 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040	18	177	0.1017	11	c.279 others(30): Show c.2791+3335_2791+3345dupTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	17/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39046495	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp1 NA19012.hp1 HG02622.hp1 HG02886.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0035 a0001c0001t0039 a0001c0001t0012 a0001c0001t0035 a0001c0001t0039	a0001c0001t0012g0188 a0001c0001t0035g0189 a0001c0001t0039g0202 a0001c0001t0012g0188 a0001c0001t0035g0189 a0001c0001t0039g0202	3	11	0.2727	11	c.864 others(28): Show c.864+4638_864+4648dupAAAAAAAAAAA	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39102204	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	35	0.0286	11	c.87+ others(28): Show c.87+18121_87+18131dupTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50172419	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00639.hp1 others(59): Show HG00140.hp2 HG00544.hp2 HG00639.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03486.hp2 HG03490.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp1 NA18906.hp1 NA18943.hp2 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18964.hp1 NA18975.hp2 NA18977.hp2 NA18991.hp2 NA19063.hp1 NA19063.hp2 NA19070.hp1 NA19085.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0002c0004 a0004c0012 a0006c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0013t0012 a0002c0004t0001 a0004c0012t0001 a0006c0008t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0149 others(59): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0347 a0001c0002t0001g0022 a0001c0002t0001g0063 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0085 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0013t0012g0380 a0002c0004t0001g0363 a0004c0012t0001g0296 a0006c0008t0001g0265	62	110	0.5636	11	c.106 others(30): Show c.1068+2024_1068+2034dupAAAAAAAAAAA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	8/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00558.hp1 others(74): Show HG00099.hp2 HG00423.hp1 HG00558.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01361.hp2 HG01433.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02040.hp1 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02630.hp1 HG02717.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03669.hp1 HG03704.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18977.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006 a0005c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0003t0001 a0003c0006t0001 a0005c0010t0001	a0001c0001t0001g0109 a0001c0002t0001g0008 a0001c0002t0001g0009 others(74): Show a0001c0001t0001g0109 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0120 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0009g0060 a0001c0002t0010g0378 a0001c0002t0013g0381 a0001c0003t0001g0052 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0348 a0001c0003t0001g0352 a0003c0006t0001g0027 a0005c0010t0001g0061	77	123	0.6260	11	c.511 others(26): Show c.511-642_511-632dupTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50220405	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01943.hp1 HG01975.hp1 others(6): Show HG00639.hp1 HG01943.hp1 HG01975.hp1 HG02109.hp1 HG02897.hp2 HG03041.hp2 NA18906.hp1 NA18974.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0139 a0001c0001t0001g0234 a0001c0001t0001g0238 others(6): Show a0001c0001t0001g0139 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0003t0001g0135 a0001c0003t0001g0136	9	48	0.1875	11	c.87+ others(28): Show c.87+10781_87+10791dupTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50224883	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18947.hp2 NA18747.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0221 a0001c0001t0002g0222	2	47	0.0426	11	c.87+ others(26): Show c.87+6303_87+6313dupTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOST_chr17_43748738_43763791	43753273	G G	GGGGTGCT others(4): Show GGGGTGCTAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	420	0.0024	11	c.20 others(22): Show c.2068_*2069insACTTAGCACCC	SOST	ENSG00000167941.3	transcript	ENST00000301691.3	protein_coding		464		chr17	TogoVar
SOWAHB_chr4_76889152_76903144	76892167	T T	TACCTCAC others(4): Show TACCTCACTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0000 a0001c0001t0019g0000	1	436	0.0023	11	c.33 others(22): Show c.3300_*3301insCACAGTGAGGT	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding		1984		chr4	TogoVar
SOWAHC_chr2_109609364_109623990	109610095	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	348	0.0029	11	c.-43 others(22): Show c.-4395_-4394insTTTTTTTTTTT	SOWAHC	ENSG00000198142.5	transcript	ENST00000356454.5	protein_coding		4268		chr2	TogoVar
SOX11_chr2_5687384_5706385	5688834	T T	TTGGTGTG others(4): Show TTGGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0144	a0001c0001t0144g0000 a0001c0001t0144g0000	1	50	0.0200	11	c.-38 others(22): Show c.-3888_-3887insTGGTGTGTGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		3549		chr2	TogoVar
SOX13_chr1_204068115_204132743	204105413	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 NA19043.hp2 HG02559.hp2 HG02615.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0049 a0001c0001t0012g0177 a0001c0001t0012g0296 a0001c0001t0012g0049 a0001c0001t0012g0177 a0001c0001t0012g0296	3	140	0.0214	11	c.-1- others(26): Show c.-1-7492_-1-7491insTTTTTTTTTTT	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOX1_chr13_112062149_112076706	112072215	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 NA19077.hp2 HG03453.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0007 a0001c0001t0005 a0002c0002t0007	a0001c0001t0005g0000 a0002c0002t0007g0000 a0001c0001t0005g0000 a0002c0002t0007g0000	2	339	0.0059	11	c.33 others(22): Show c.3381_*3382insCCCCCCCCCCC	SOX1	ENSG00000182968.5	transcript	ENST00000330949.3	protein_coding		510		chr13	TogoVar

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