Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SORCS2_chr4_7187538_7747827	7657489	GAATGAAT others(5): Show GAATGAATGAGTA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0118 a0001c0006t0002g0118	1	168	0.0060	-12	c.887 others(29): Show c.887+3298_887+3309delGAATGAGTAAAT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7657613	GTGAGTCA others(5): Show GTGAGTCACTGAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp2 HG02922.hp1 others(1): Show HG01109.hp2 HG02572.hp2 HG02922.hp1 HG03209.hp2	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0015	a0001c0037 a0006c0008 a0008c0056 others(1): Show a0001c0037 a0006c0008 a0008c0056 a0015c0054	a0001c0037t0020 a0006c0008t0001 a0008c0056t0021 others(1): Show a0001c0037t0020 a0006c0008t0001 a0008c0056t0021 a0015c0054t0022	a0001c0037t0020g0017 a0006c0008t0001g0029 a0008c0056t0021g0061 others(1): Show a0001c0037t0020g0017 a0006c0008t0001g0029 a0008c0056t0021g0061 a0015c0054t0022g0113	4	168	0.0238	-12	c.887 others(29): Show c.887+3412_887+3423delCACTGAATGAGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7674578	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0151 a0001c0009t0001g0151	1	168	0.0060	-12	c.116 others(31): Show c.1162-1456_1162-1445delAAAAAAAAAAAA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7676799	TTCTGTCT others(5): Show TTCTGTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp2 others(45): Show HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01361.hp1 HG01952.hp1 HG02015.hp2 HG02040.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02922.hp1 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03492.hp1 HG03540.hp1 HG03688.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19066.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0008 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0031 a0001c0037 a0001c0038 a0001c0053 a0002c0004 a0003c0012 a0003c0035 a0005c0018 a0005c0021 a0005c0022 a0006c0008 a0008c0056 a0011c0023 a0012c0039 a0013c0055 a0014c0052 a0015c0054 a0016c0040	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(41): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0025 a0001c0001t0032 a0001c0001t0050 a0001c0001t0072 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0043 a0001c0002t0047 a0001c0002t0054 a0001c0002t0061 a0001c0003t0003 a0001c0003t0005 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0031t0026 a0001c0037t0020 a0001c0038t0038 a0001c0053t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0024 a0003c0012t0055 a0003c0035t0007 a0005c0018t0059 a0005c0021t0070 a0005c0022t0039 a0006c0008t0001 a0008c0056t0021 a0011c0023t0008 a0012c0039t0063 a0013c0055t0048 a0014c0052t0004 a0015c0054t0022 a0016c0040t0004	a0001c0001t0003g0053 a0001c0001t0004g0097 a0001c0001t0004g0138 others(45): Show a0001c0001t0003g0053 a0001c0001t0004g0097 a0001c0001t0004g0138 a0001c0001t0005g0130 a0001c0001t0006g0055 a0001c0001t0007g0063 a0001c0001t0012g0047 a0001c0001t0013g0125 a0001c0001t0017g0003 a0001c0001t0025g0071 a0001c0001t0025g0072 a0001c0001t0032g0141 a0001c0001t0050g0106 a0001c0001t0072g0161 a0001c0002t0003g0131 a0001c0002t0004g0018 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0043g0070 a0001c0002t0047g0020 a0001c0002t0054g0050 a0001c0002t0061g0121 a0001c0003t0003g0088 a0001c0003t0005g0079 a0001c0005t0007g0065 a0001c0005t0007g0154 a0001c0006t0001g0119 a0001c0006t0002g0118 a0001c0031t0026g0144 a0001c0037t0020g0017 a0001c0038t0038g0128 a0001c0053t0001g0044 a0002c0004t0003g0046 a0002c0004t0008g0078 a0002c0004t0024g0114 a0003c0012t0055g0033 a0003c0035t0007g0075 a0005c0018t0059g0145 a0005c0021t0070g0103 a0005c0022t0039g0153 a0006c0008t0001g0029 a0008c0056t0021g0061 a0011c0023t0008g0122 a0012c0039t0063g0064 a0013c0055t0048g0150 a0014c0052t0004g0030 a0015c0054t0022g0113 a0016c0040t0004g0024	48	168	0.2857	-12	c.134 others(29): Show c.1341+574_1341+585delGTCTCTCTCTCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7676903	TCTCCCTC others(5): Show TCTCCCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG02280.hp1 HG02922.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0054 a0001c0001 a0015c0054	a0001c0001t0013 a0015c0054t0022 a0001c0001t0013 a0015c0054t0022	a0001c0001t0013g0125 a0015c0054t0022g0113 a0001c0001t0013g0125 a0015c0054t0022g0113	2	168	0.0119	-12	c.134 others(29): Show c.1341+678_1341+689delCCTCTCTCCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7676919	TCTCCCTC others(5): Show TCTCCCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02970.hp2 others(3): Show HG02615.hp2 HG02647.hp2 HG02970.hp2 HG03471.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010	a0001c0001t0018 a0001c0003t0015 a0001c0005t0004 others(3): Show a0001c0001t0018 a0001c0003t0015 a0001c0005t0004 a0001c0005t0042 a0001c0010t0027 a0001c0010t0073	a0001c0001t0018g0099 a0001c0003t0015g0034 a0001c0005t0004g0101 others(3): Show a0001c0001t0018g0099 a0001c0003t0015g0034 a0001c0005t0004g0101 a0001c0005t0042g0157 a0001c0010t0027g0105 a0001c0010t0073g0167	6	168	0.0357	-12	c.134 others(29): Show c.1341+694_1341+705delCCTCTCTCCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7676944	CTCCCTCT others(5): Show CTCCCTCTGCCTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01071.hp2 others(8): Show HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01952.hp1 HG02148.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp2 HG02922.hp1 HG03195.hp1 HG04204.hp2	a0001 a0011 a0015 others(1): Show a0001 a0011 a0015 a0016	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0011c0023 a0015c0054 a0016c0040	a0001c0001t0003 a0001c0001t0013 a0001c0002t0006 others(6): Show a0001c0001t0003 a0001c0001t0013 a0001c0002t0006 a0001c0002t0043 a0001c0003t0003 a0001c0005t0007 a0011c0023t0008 a0015c0054t0022 a0016c0040t0004	a0001c0001t0003g0053 a0001c0001t0013g0125 a0001c0002t0006g0158 others(8): Show a0001c0001t0003g0053 a0001c0001t0013g0125 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0043g0070 a0001c0003t0003g0088 a0001c0005t0007g0065 a0001c0005t0007g0154 a0011c0023t0008g0122 a0015c0054t0022g0113 a0016c0040t0004g0024	11	168	0.0655	-12	c.134 others(29): Show c.1341+716_1341+727delTCCCTCTGCCTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7695516	GTGGGTGA others(5): Show GTGGGTGAGTGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG04204.hp1 HG01884.hp1 HG02809.hp1 HG04204.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0050 a0003c0012 a0001c0001 a0002c0050 a0003c0012	a0001c0001t0020 a0002c0050t0045 a0003c0012t0036 a0001c0001t0020 a0002c0050t0045 a0003c0012t0036	a0001c0001t0020g0052 a0002c0050t0045g0132 a0003c0012t0036g0010 a0001c0001t0020g0052 a0002c0050t0045g0132 a0003c0012t0036g0010	3	168	0.0179	-12	c.159 others(31): Show c.1592-1675_1592-1664delAGTGGATGGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7695551	GATGGATG others(5): Show GATGGATGGATGC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01070.hp1 others(15): Show HG00323.hp1 HG00323.hp2 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02293.hp2 HG02602.hp2 HG03017.hp1 HG03239.hp1 HG03492.hp1 HG03688.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0030 a0001c0031 a0002c0004	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(14): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0025 a0001c0001t0050 a0001c0002t0005 a0001c0002t0054 a0001c0003t0005 a0001c0003t0010 a0001c0006t0001 a0001c0006t0017 a0001c0006t0066 a0001c0030t0040 a0001c0031t0026 a0002c0004t0008 a0002c0004t0056	a0001c0001t0005g0130 a0001c0001t0006g0055 a0001c0001t0007g0063 others(15): Show a0001c0001t0005g0130 a0001c0001t0006g0055 a0001c0001t0007g0063 a0001c0001t0009g0014 a0001c0001t0025g0071 a0001c0001t0025g0072 a0001c0001t0050g0106 a0001c0002t0005g0069 a0001c0002t0054g0050 a0001c0003t0005g0079 a0001c0003t0010g0001 a0001c0006t0001g0119 a0001c0006t0017g0117 a0001c0006t0066g0084 a0001c0030t0040g0109 a0001c0031t0026g0144 a0002c0004t0008g0078 a0002c0004t0056g0134	18	168	0.1071	-12	c.159 others(31): Show c.1592-1635_1592-1624delCATGGATGGATG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7695624	ATGGATGG others(5): Show ATGGATGGGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01169.hp1 others(13): Show HG00639.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG02109.hp1 HG02293.hp2 HG02486.hp2 HG02886.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG04204.hp2 NA18522.hp1 NA18906.hp1 NA19240.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0010 a0018	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0036 a0004c0043 a0005c0020 a0010c0032 a0018c0025	a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 others(12): Show a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0002t0005 a0001c0003t0003 a0001c0005t0023 a0001c0006t0017 a0001c0006t0066 a0001c0009t0001 a0001c0010t0076 a0001c0036t0044 a0004c0043t0037 a0005c0020t0020 a0010c0032t0030 a0018c0025t0031	a0001c0001t0018g0099 a0001c0001t0023g0168 a0001c0001t0025g0071 others(13): Show a0001c0001t0018g0099 a0001c0001t0023g0168 a0001c0001t0025g0071 a0001c0001t0025g0072 a0001c0002t0005g0069 a0001c0003t0003g0088 a0001c0005t0023g0032 a0001c0006t0017g0117 a0001c0006t0066g0084 a0001c0009t0001g0151 a0001c0010t0076g0163 a0001c0036t0044g0022 a0004c0043t0037g0058 a0005c0020t0020g0037 a0010c0032t0030g0149 a0018c0025t0031g0025	16	168	0.0952	-12	c.159 others(31): Show c.1592-1566_1592-1555delGTGGGTGGATGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7695636	GTGGATGG others(5): Show GTGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0019 a0001c0002t0058g0019	1	168	0.0060	-12	c.159 others(31): Show c.1592-1522_1592-1511delATGGATGGATGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7695872	GTGGGTGG others(5): Show GTGGGTGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01175.hp2 others(2): Show HG01167.hp2 HG01169.hp1 HG01175.hp2 HG02293.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0025 a0001c0002t0005 a0001c0006t0017 others(1): Show a0001c0001t0025 a0001c0002t0005 a0001c0006t0017 a0001c0006t0066	a0001c0001t0025g0071 a0001c0001t0025g0072 a0001c0002t0005g0069 others(2): Show a0001c0001t0025g0071 a0001c0001t0025g0072 a0001c0002t0005g0069 a0001c0006t0017g0117 a0001c0006t0066g0084	5	168	0.0298	-12	c.159 others(31): Show c.1592-1322_1592-1311delGTGGATGGATGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7716628	TCCATCCA others(5): Show TCCATCCATCTAC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01981.hp1 HG02040.hp1 others(1): Show HG01934.hp1 HG01981.hp1 HG02040.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0012 a0001c0031t0026 a0001c0001t0012 a0001c0031t0026	a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0012g0137 others(1): Show a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0031t0026g0144	4	168	0.0238	-12	c.225 others(31): Show c.2252+1329_2252+1340delCCCATCCATCTA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7725005	ATGGTGGT others(5): Show ATGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02809.hp2 others(2): Show HG01243.hp2 HG02615.hp2 HG02809.hp2 HG06807.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0004c0007	a0001c0002t0004 a0001c0003t0015 a0001c0005t0042 others(2): Show a0001c0002t0004 a0001c0003t0015 a0001c0005t0042 a0001c0010t0027 a0004c0007t0015	a0001c0002t0004g0028 a0001c0003t0015g0034 a0001c0005t0042g0157 others(2): Show a0001c0002t0004g0028 a0001c0003t0015g0034 a0001c0005t0042g0157 a0001c0010t0027g0105 a0004c0007t0015g0166	5	168	0.0298	-12	c.261 others(29): Show c.2612-137_2612-126delGTGGTGGTGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7743802	GCGCGCAC others(5): Show GCGCGCACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0042 a0003c0042	a0003c0042t0003 a0003c0042t0003	a0003c0042t0003g0066 a0003c0042t0003g0066	1	168	0.0060	-12	c.35 others(23): Show c.3539_*3550delCGCGCACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding		976		chr4	TogoVar
SORCS2_chr4_7187538_7747827	7743806	GCACACAC others(5): Show GCACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02056.hp1 HG02148.hp2 others(2): Show HG01261.hp1 HG02056.hp1 HG02148.hp2 NA18966.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0002c0004	a0001c0001t0005 a0001c0002t0041 a0001c0011t0060 others(1): Show a0001c0001t0005 a0001c0002t0041 a0001c0011t0060 a0002c0004t0014	a0001c0001t0005g0067 a0001c0002t0041g0096 a0001c0011t0060g0107 others(2): Show a0001c0001t0005g0067 a0001c0002t0041g0096 a0001c0011t0060g0107 a0002c0004t0014g0083 a0002c0004t0014g0110	5	168	0.0298	-12	c.35 others(23): Show c.3543_*3554delCACACACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding		980		chr4	TogoVar
SORCS3_chr10_104636290_105270242	104690820	GACCCTGA others(5): Show GACCCTGATAGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00609.hp2 others(53): Show HG00140.hp1 HG00140.hp2 HG00609.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01981.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03516.hp1 HG03688.hp1 HG03688.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18941.hp1 NA18943.hp1 NA18970.hp1 NA18995.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19079.hp2 NA19090.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0012 a0013	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0018 a0002c0004 a0003c0009 a0008c0014 a0012c0012 a0013c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 a0001c0006t0001 a0001c0018t0002 a0002c0004t0001 a0003c0009t0002 a0008c0014t0001 a0012c0012t0001 a0013c0016t0004	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 others(53): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0056 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0133 a0001c0001t0003g0023 a0001c0001t0003g0033 a0001c0001t0004g0028 a0001c0001t0004g0045 a0001c0001t0004g0048 a0001c0001t0004g0094 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0086 a0001c0002t0001g0102 a0001c0002t0001g0114 a0001c0002t0001g0134 a0001c0002t0003g0006 a0001c0002t0008g0013 a0001c0002t0011g0020 a0001c0006t0001g0077 a0001c0018t0002g0064 a0002c0004t0001g0002 a0003c0009t0002g0096 a0003c0009t0002g0097 a0008c0014t0001g0015 a0012c0012t0001g0003 a0013c0016t0004g0059	56	134	0.4179	-12	c.627 others(31): Show c.627+48868_627+48879delCCCTGATAGCAA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104728021	TTCTATCT others(5): Show TTCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	134	0.0075	-12	c.627 others(31): Show c.627+86108_627+86119delTCTATCTATCTA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104749226	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03486.hp1 HG03471.hp2 HG03486.hp1	a0006 a0006	a0006c0010 a0006c0011 a0006c0010 a0006c0011	a0006c0010t0001 a0006c0011t0001 a0006c0010t0001 a0006c0011t0001	a0006c0010t0001g0068 a0006c0011t0001g0069 a0006c0010t0001g0068 a0006c0011t0001g0069	2	134	0.0149	-12	c.628 others(31): Show c.628-93535_628-93524delGTGTGTGTGTGT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104751924	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG01884.hp2 others(2): Show HG01243.hp1 HG01433.hp2 HG01884.hp2 HG02280.hp2 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0006 a0004c0008t0001	a0001c0001t0002g0011 a0001c0001t0004g0125 a0001c0002t0001g0091 others(2): Show a0001c0001t0002g0011 a0001c0001t0004g0125 a0001c0002t0001g0091 a0001c0002t0006g0071 a0004c0008t0001g0126	5	134	0.0373	-12	c.628 others(31): Show c.628-90834_628-90823delTATATATATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104818360	TCTTCCTT others(5): Show TCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG03225.hp2 HG02647.hp2 HG02965.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0051 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0002t0001g0051 a0001c0003t0003g0054 a0001c0003t0003g0055	3	134	0.0224	-12	c.628 others(31): Show c.628-24399_628-24388delCTTCCTTCCTTC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940204	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0078 a0001c0002t0007g0078	1	134	0.0075	-12	c.795 others(31): Show c.795+24296_795+24307delATATATATATAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940228	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	134	0.0075	-12	c.795 others(31): Show c.795+24298_795+24309delATATATATATTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940232	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp1 NA18906.hp2 HG02622.hp2 HG02965.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0001c0002t0005 a0002c0004t0001 a0001c0002t0001 a0001c0002t0005 a0002c0004t0001	a0001c0002t0001g0075 a0001c0002t0005g0074 a0002c0004t0001g0132 a0001c0002t0001g0075 a0001c0002t0005g0074 a0002c0004t0001g0132	3	134	0.0224	-12	c.795 others(31): Show c.795+24302_795+24313delATATATTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940238	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG01884.hp1 HG01891.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0013 a0001c0002 a0002c0013	a0001c0002t0003 a0002c0013t0002 a0001c0002t0003 a0002c0013t0002	a0001c0002t0003g0118 a0002c0013t0002g0131 a0001c0002t0003g0118 a0002c0013t0002g0131	2	134	0.0149	-12	c.795 others(31): Show c.795+24312_795+24323delTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105013974	GACACACA others(5): Show GACACACAGACAC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03516.hp1 NA20300.hp2 HG02895.hp1 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0033 a0001c0001t0003g0079 a0001c0001t0003g0023 a0001c0001t0003g0033 a0001c0001t0003g0079	3	134	0.0224	-12	c.955 others(31): Show c.955-29073_955-29062delGACACACACACA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105031320	CACACACA others(5): Show CACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01358.hp2 NA18995.hp2 HG01169.hp1 HG01358.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0004g0112 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0004g0112	3	134	0.0224	-12	c.955 others(31): Show c.955-11723_955-11712delAACACACACACA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105031332	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02280.hp2 others(13): Show HG01243.hp1 HG01884.hp2 HG02280.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG04184.hp2 NA18906.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0002c0004 others(3): Show a0001c0001 a0001c0002 a0002c0004 a0004c0008 a0006c0010 a0006c0011	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0002c0004t0001 a0004c0008t0001 a0006c0010t0001 a0006c0011t0001	a0001c0001t0002g0121 a0001c0001t0004g0125 a0001c0002t0001g0008 others(13): Show a0001c0001t0002g0121 a0001c0001t0004g0125 a0001c0002t0001g0008 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0091 a0001c0002t0002g0129 a0001c0002t0003g0004 a0001c0002t0003g0070 a0001c0002t0005g0074 a0002c0004t0001g0002 a0002c0004t0001g0132 a0004c0008t0001g0005 a0004c0008t0001g0126 a0006c0010t0001g0068 a0006c0011t0001g0069	16	134	0.1194	-12	c.955 others(31): Show c.955-11703_955-11692delCACACACACACA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105227985	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	134	0.0075	-12	c.286 others(31): Show c.2868+4774_2868+4785delGTGTGTGTGTGT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORD_chr15_45018195_45082185	45030812	GCCTGGTG others(5): Show GCCTGGTGAGGAC	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01978.hp2 HG02148.hp2 HG01928.hp1 HG01978.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0029 a0002c0002t0013g0030 a0002c0002t0013g0031 a0002c0002t0013g0029 a0002c0002t0013g0030 a0002c0002t0013g0031	3	308	0.0097	-12	c.66+ others(27): Show c.66+7464_66+7475delCCTGGTGAGGAC	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	1/8			chr15	TogoVar
SORD_chr15_45018195_45082185	45038126	CCCTTCCT others(5): Show CCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp2 others(45): Show HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00642.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01496.hp2 HG01891.hp2 HG02056.hp1 HG02083.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02735.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp1 NA18612.hp1 NA18973.hp1 NA18982.hp1 NA18989.hp1 NA18990.hp2 NA19043.hp2 NA19068.hp2 NA19078.hp1 NA19085.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0008 a0002c0002 others(4): Show a0001c0001 a0001c0008 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0004c0006	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(19): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0001t0030 a0001c0008t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0012 a0002c0002t0023 a0002c0002t0037 a0002c0002t0040 a0002c0002t0044 a0002c0004t0004 a0002c0004t0009 a0003c0003t0001 a0003c0003t0005 a0003c0003t0015 a0004c0005t0004 a0004c0006t0002	a0001c0001t0001g0028 a0001c0001t0001g0072 a0001c0001t0001g0122 others(41): Show a0001c0001t0001g0028 a0001c0001t0001g0072 a0001c0001t0001g0122 a0001c0001t0001g0230 a0001c0001t0007g0026 a0001c0001t0014g0271 a0001c0001t0017g0083 a0001c0001t0017g0084 a0001c0001t0030g0154 a0001c0008t0007g0214 a0002c0002t0001g0221 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0227 a0002c0002t0003g0001 a0002c0002t0003g0111 a0002c0002t0003g0114 a0002c0002t0003g0237 a0002c0002t0003g0262 a0002c0002t0003g0279 a0002c0002t0006g0242 a0002c0002t0012g0260 a0002c0002t0023g0273 a0002c0002t0037g0117 a0002c0002t0040g0261 a0002c0002t0044g0258 a0002c0004t0004g0004 a0002c0004t0004g0015 a0002c0004t0004g0016 a0002c0004t0004g0017 a0002c0004t0004g0018 a0002c0004t0004g0019 a0002c0004t0004g0020 a0002c0004t0004g0022 a0002c0004t0009g0023 a0003c0003t0001g0294 a0003c0003t0005g0256 a0003c0003t0005g0257 a0003c0003t0005g0259 a0003c0003t0015g0009 a0004c0005t0004g0021 a0004c0006t0002g0295	48	308	0.1558	-12	c.67- others(27): Show c.67-2224_67-2213delCTTCCTTCCTTC	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SORD_chr15_45018195_45082185	45042519	TAAATAAA others(5): Show TAAATAAATAAAG	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01978.hp2 HG02148.hp2 others(17): Show HG01928.hp1 HG01978.hp2 HG02148.hp2 HG03017.hp2 HG03130.hp1 HG03579.hp1 HG03654.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18957.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18985.hp2 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0029 a0001c0008t0001 a0002c0002t0004 a0002c0002t0013 a0003c0003t0005 a0003c0003t0041	a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0123 a0001c0001t0001g0286 a0001c0001t0004g0080 a0001c0001t0005g0285 a0001c0001t0016g0282 a0001c0001t0029g0284 a0001c0008t0001g0283 a0002c0002t0004g0013 a0002c0002t0004g0014 a0002c0002t0013g0029 a0002c0002t0013g0030 a0002c0002t0013g0031 a0003c0003t0005g0254 a0003c0003t0041g0253	20	308	0.0649	-12	c.101 others(27): Show c.101-737_101-726delAAATAAATAAAG	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	2/8			chr15	TogoVar
SORL1_chr11_121447314_121638763	121502124	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00741.hp2 others(77): Show HG00099.hp2 HG00280.hp2 HG00741.hp2 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03688.hp1 HG04184.hp1 HG04199.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18952.hp1 NA18957.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18972.hp1 NA18977.hp1 NA18983.hp1 NA18985.hp2 NA18991.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19043.hp1 NA19056.hp2 NA19063.hp2 NA19074.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0006 a0007 a0015 a0016	a0001c0002 a0001c0003 a0001c0004 others(19): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0018 a0001c0021 a0001c0022 a0001c0023 a0001c0033 a0001c0035 a0001c0036 a0001c0042 a0001c0045 a0003c0034 a0005c0041 a0006c0072 a0007c0043 a0015c0037 a0016c0047	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(45): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0015 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0012 a0001c0003t0023 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0009 a0001c0004t0022 a0001c0004t0029 a0001c0006t0001 a0001c0006t0009 a0001c0006t0028 a0001c0009t0003 a0001c0010t0002 a0001c0011t0001 a0001c0011t0002 a0001c0011t0012 a0001c0011t0020 a0001c0011t0021 a0001c0018t0002 a0001c0021t0003 a0001c0021t0016 a0001c0022t0003 a0001c0022t0008 a0001c0023t0002 a0001c0023t0003 a0001c0033t0003 a0001c0035t0001 a0001c0036t0003 a0001c0042t0002 a0001c0045t0020 a0003c0034t0003 a0005c0041t0013 a0006c0072t0002 a0007c0043t0026 a0015c0037t0005 a0016c0047t0007	a0001c0002t0001g0010 a0001c0002t0001g0092 a0001c0002t0001g0103 others(77): Show a0001c0002t0001g0010 a0001c0002t0001g0092 a0001c0002t0001g0103 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0188 a0001c0002t0002g0091 a0001c0002t0002g0109 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0004g0003 a0001c0002t0004g0007 a0001c0002t0004g0077 a0001c0002t0004g0078 a0001c0002t0004g0079 a0001c0002t0004g0084 a0001c0002t0004g0085 a0001c0002t0004g0087 a0001c0002t0004g0093 a0001c0002t0004g0108 a0001c0002t0004g0126 a0001c0002t0004g0143 a0001c0002t0006g0020 a0001c0002t0015g0017 a0001c0003t0002g0080 a0001c0003t0002g0105 a0001c0003t0002g0128 a0001c0003t0002g0229 a0001c0003t0003g0254 a0001c0003t0003g0262 a0001c0003t0005g0226 a0001c0003t0005g0228 a0001c0003t0007g0261 a0001c0003t0007g0264 a0001c0003t0007g0265 a0001c0003t0008g0208 a0001c0003t0008g0263 a0001c0003t0012g0184 a0001c0003t0023g0183 a0001c0004t0001g0082 a0001c0004t0001g0088 a0001c0004t0001g0144 a0001c0004t0002g0132 a0001c0004t0003g0224 a0001c0004t0004g0011 a0001c0004t0004g0012 a0001c0004t0009g0015 a0001c0004t0022g0086 a0001c0004t0029g0187 a0001c0006t0001g0068 a0001c0006t0001g0072 a0001c0006t0009g0200 a0001c0006t0028g0031 a0001c0009t0003g0147 a0001c0010t0002g0190 a0001c0011t0001g0107 a0001c0011t0002g0271 a0001c0011t0012g0242 a0001c0011t0020g0106 a0001c0011t0021g0243 a0001c0018t0002g0013 a0001c0018t0002g0081 a0001c0018t0002g0156 a0001c0021t0003g0216 a0001c0021t0016g0206 a0001c0022t0003g0213 a0001c0022t0008g0211 a0001c0023t0002g0070 a0001c0023t0003g0193 a0001c0033t0003g0169 a0001c0035t0001g0071 a0001c0036t0003g0266 a0001c0042t0002g0002 a0001c0045t0020g0102 a0003c0034t0003g0227 a0005c0041t0013g0189 a0006c0072t0002g0256 a0007c0043t0026g0215 a0015c0037t0005g0259 a0016c0047t0007g0182	80	272	0.2941	-12	c.939 others(29): Show c.939+5093_939+5104delTTTTTTTTTTTT	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORL1_chr11_121447314_121638763	121543190	CAAAAAAA others(5): Show CAAAAAAAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp2 HG02970.hp2 others(1): Show HG01243.hp1 HG02818.hp2 HG02970.hp2 HG03516.hp2	a0001 a0011 a0001 a0011	a0001c0065 a0001c0066 a0001c0067 others(1): Show a0001c0065 a0001c0066 a0001c0067 a0011c0064	a0001c0065t0003 a0001c0066t0016 a0001c0067t0013 others(1): Show a0001c0065t0003 a0001c0066t0016 a0001c0067t0013 a0011c0064t0024	a0001c0065t0003g0152 a0001c0066t0016g0194 a0001c0067t0013g0204 others(1): Show a0001c0065t0003g0152 a0001c0066t0016g0194 a0001c0067t0013g0204 a0011c0064t0024g0168	4	272	0.0147	-12	c.168 others(29): Show c.1686-340_1686-329delAAAAGAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	12/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORT1_chr1_109304575_109402918	109326428	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0154 a0001c0003t0012g0155 a0001c0003t0012g0154 a0001c0003t0012g0155	2	240	0.0083	-12	c.164 others(29): Show c.1643+552_1643+563delATATATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	13/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109326454	TATATATA others(5): Show TATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0156 a0001c0003t0012g0156	1	240	0.0042	-12	c.164 others(29): Show c.1643+526_1643+537delGTATATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	13/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109326460	TATATACA others(5): Show TATATACATACAC	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04115.hp1 HG03492.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0192 a0001c0001t0002g0193	2	240	0.0083	-12	c.164 others(29): Show c.1643+520_1643+531delGTGTATGTATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	13/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109326510	CATACACA others(5): Show CATACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03017.hp2 HG01168.hp1 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0206 a0001c0002t0003g0236 a0001c0002t0003g0206 a0001c0002t0003g0236	2	240	0.0083	-12	c.164 others(29): Show c.1643+470_1643+481delATATATGTGTAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	13/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109378698	TGATATAT others(5): Show TGATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp2 HG02451.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0178 a0001c0003t0004g0179 a0001c0003t0004g0178 a0001c0003t0004g0179	2	240	0.0083	-12	c.307 others(29): Show c.307-9121_307-9110delTATATATATATC	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109378699	GATATATA others(5): Show GATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01081.hp2 others(13): Show HG00323.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01433.hp2 HG02145.hp2 HG02165.hp2 HG02615.hp2 HG03098.hp2 HG03139.hp1 HG03540.hp1 HG03669.hp1 NA19065.hp2 NA19066.hp1 NA21309.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0003c0011 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0003t0026 a0001c0004t0004 a0003c0011t0031 a0008c0008t0011	a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0050 others(13): Show a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0095 a0001c0001t0001g0133 a0001c0001t0002g0053 a0001c0001t0002g0063 a0001c0001t0002g0114 a0001c0001t0017g0052 a0001c0001t0021g0049 a0001c0001t0022g0096 a0001c0003t0026g0153 a0001c0004t0004g0172 a0001c0004t0004g0174 a0003c0011t0031g0146 a0008c0008t0011g0031	16	240	0.0667	-12	c.307 others(29): Show c.307-9122_307-9111delATATATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOS1_chr2_38976549_39126051	39042712	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0236 a0001c0001t0006g0236	1	246	0.0041	-12	c.865 others(29): Show c.865-7224_865-7213delAAAAAAAAAAAA	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39062423	AAAAAAAA others(5): Show AAAAAAAAAAATT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	246	0.0041	-12	c.214 others(29): Show c.214-3631_214-3620delAATTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	2/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50113794	CGGGGGGG others(5): Show CGGGGGGGGGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02622.hp2 others(2): Show HG02257.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0345 a0001c0001t0001g0346 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0011t0001g0344	5	382	0.0131	-12	c.45 others(23): Show c.4538_*4549delCCCCCCCCCCCC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding		3335		chr14	TogoVar
SOS2_chr14_50112130_50236578	50135089	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03139.hp2 HG06807.hp2 HG03098.hp2 HG03139.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0005 a0001c0013t0012 a0001c0003t0005 a0001c0013t0012	a0001c0003t0005g0137 a0001c0003t0005g0138 a0001c0013t0012g0380 a0001c0003t0005g0137 a0001c0003t0005g0138 a0001c0013t0012g0380	3	382	0.0079	-12	c.295 others(29): Show c.2959-862_2959-851delCTTTCTTTCTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	18/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50175428	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG01175.hp2 HG00323.hp2 HG00642.hp2 HG01175.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0353 a0001c0005t0001g0354 a0001c0005t0001g0355 a0001c0005t0001g0353 a0001c0005t0001g0354 a0001c0005t0001g0355	3	382	0.0079	-12	c.970 others(27): Show c.970-888_970-877delAAAAAAAAAAAA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	7/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50178668	GTGCATAT others(5): Show GTGCATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00621.hp1 others(64): Show HG00323.hp1 HG00423.hp2 HG00621.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01993.hp2 HG02004.hp2 HG02165.hp1 HG02293.hp2 HG02723.hp2 HG02738.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18947.hp2 NA18953.hp2 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18971.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19009.hp1 NA19030.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19087.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0005	a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0142 others(64): Show a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0269 a0001c0001t0001g0307 a0001c0001t0001g0357 a0001c0001t0002g0179 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0306 a0001c0001t0006g0199 a0001c0001t0006g0222 a0001c0003t0005g0137 a0001c0003t0005g0138	67	382	0.1754	-12	c.969 others(29): Show c.969+1892_969+1903delTATATATATGCA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	7/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50178670	GCATATAT others(5): Show GCATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01258.hp2 others(8): Show HG00099.hp1 HG00733.hp1 HG01258.hp2 HG01891.hp2 HG02300.hp1 HG02717.hp1 HG03098.hp1 HG03225.hp1 HG03540.hp2 NA19074.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0163 a0001c0001t0001g0207 a0001c0001t0001g0208 others(8): Show a0001c0001t0001g0163 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0002t0001g0021 a0001c0002t0001g0105 a0001c0003t0001g0092 a0001c0003t0001g0359 a0001c0003t0001g0360 a0002c0004t0001g0371 a0002c0004t0001g0376	11	382	0.0288	-12	c.969 others(29): Show c.969+1890_969+1901delTATATATATATG	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	7/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50209274	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02165.hp2 HG02717.hp1 others(9): Show HG02071.hp1 HG02165.hp2 HG02717.hp1 HG03225.hp2 HG03516.hp2 HG04115.hp2 NA18942.hp2 NA19012.hp1 NA19030.hp2 NA19078.hp1 NA19086.hp2 NA20905.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0003 a0002c0004 others(1): Show a0001c0002 a0001c0003 a0002c0004 a0007c0015	a0001c0002t0001 a0001c0003t0001 a0002c0004t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0002c0004t0001 a0007c0015t0001	a0001c0002t0001g0011 a0001c0002t0001g0039 a0001c0002t0001g0040 others(9): Show a0001c0002t0001g0011 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0079 a0001c0002t0001g0098 a0001c0002t0001g0105 a0001c0003t0001g0092 a0002c0004t0001g0364 a0007c0015t0001g0078	12	382	0.0314	-12	c.88- others(27): Show c.88-4877_88-4866delACACACACACAC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50224302	AAAATATA others(5): Show AAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	382	0.0026	-12	c.87+ others(27): Show c.87+6883_87+6894delATATATATATTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50224314	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02683.hp1 NA20752.hp1 HG02630.hp2 HG02683.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0123 a0001c0001t0001g0238 a0001c0001t0001g0239	3	382	0.0079	-12	c.87+ others(27): Show c.87+6871_87+6882delGTGTGTGTGTGT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar

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