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	106944874	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG01081.hp1 others(1): Show HG00597.hp1 HG00639.hp1 HG01081.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0004t0002	a0001c0001t0001g0110 a0001c0001t0002g0103 a0001c0003t0002g0097 others(1): Show a0001c0001t0001g0110 a0001c0001t0002g0103 a0001c0003t0002g0097 a0001c0004t0002g0102	4	76	0.0526	15	c.626 others(34): Show c.626+11624_626+11638dupAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106952542	A A	ATATATTA others(8): Show ATATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01433.hp1 HG01433.hp2 others(14): Show HG00408.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG02056.hp1 HG02451.hp2 HG02622.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03516.hp2 NA18962.hp1 NA18981.hp2 NA18995.hp1 NA19030.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0019 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0004t0023 a0001c0005t0001 a0001c0005t0002 a0001c0019t0001 a0002c0006t0001	a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0001t0002g0059 others(14): Show a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0001t0002g0059 a0001c0001t0003g0042 a0001c0001t0003g0083 a0001c0001t0004g0053 a0001c0002t0002g0077 a0001c0002t0004g0043 a0001c0002t0006g0049 a0001c0003t0001g0100 a0001c0003t0001g0116 a0001c0003t0001g0119 a0001c0004t0023g0130 a0001c0005t0001g0052 a0001c0005t0002g0030 a0001c0019t0001g0016 a0002c0006t0001g0014	17	41	0.4146	15	c.626 others(32): Show c.626+3956_626+3970dupATATAATATAATATA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106963110	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19074.hp2 HG03098.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0010 a0001c0003t0001 a0001c0009t0010	a0001c0003t0001g0117 a0001c0009t0010g0039 a0001c0003t0001g0117 a0001c0009t0010g0039	2	27	0.0741	15	c.559 others(32): Show c.559-6545_559-6531dupAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107065466	C C	CCCTCTCC others(8): Show CCCTCTCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp2 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0037 a0001c0003t0001g0090 a0001c0002t0001g0037 a0001c0003t0001g0090	2	70	0.0286	15	c.558 others(34): Show c.558+98488_558+98502dupAGAGGAGAGGAGAGG	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7351709	C C	CCATCCAT others(8): Show CCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0013 a0017c0019t0013	a0017c0019t0013g0027 a0017c0019t0013g0027	1	110	0.0091	15	c.481 others(34): Show c.481-44578_481-44577insATCCATCCATCCATC	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(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0072 a0001c0001t0024g0072	1	31	0.0323	15	c.481 others(34): Show c.481-22809_481-22808insATATATATTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403998	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG04228.hp1 NA18962.hp2 HG00438.hp1 HG04228.hp1 NA18962.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0007 a0001c0001t0029 a0002c0004t0002 a0001c0001t0007 a0001c0001t0029 a0002c0004t0002	a0001c0001t0007g0111 a0001c0001t0029g0141 a0002c0004t0002g0013 a0001c0001t0007g0111 a0001c0001t0029g0141 a0002c0004t0002g0013	3	152	0.0197	15	c.548 others(32): Show c.548+7643_548+7644insATATATATATATATA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7413391	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03492.hp1 HG03710.hp2 HG02486.hp1 HG03492.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0010 a0001c0002t0042 a0001c0011t0015 a0001c0001t0010 a0001c0002t0042 a0001c0011t0015	a0001c0001t0010g0129 a0001c0002t0042g0050 a0001c0011t0015g0077 a0001c0001t0010g0129 a0001c0002t0042g0050 a0001c0011t0015g0077	3	16	0.1875	15	c.548 others(34): Show c.548+17042_548+17056dupTTTTTTTTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448997	T T	TCCCTTCC others(8): Show TCCCTTCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp2 HG03239.hp2 HG01123.hp2 HG01346.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0034 a0001c0002 a0001c0003 a0001c0034	a0001c0002t0008 a0001c0003t0011 a0001c0034t0005 a0001c0002t0008 a0001c0003t0011 a0001c0034t0005	a0001c0002t0008g0121 a0001c0003t0011g0080 a0001c0034t0005g0093 a0001c0002t0008g0121 a0001c0003t0011g0080 a0001c0034t0005g0093	3	130	0.0231	15	c.548 others(34): Show c.548+52642_548+52643insCCCTTCCTCCCTCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449051	C C	CCTCCCTC others(8): Show CCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0001 a0001c0003t0010g0001	1	151	0.0066	15	c.548 others(34): Show c.548+52697_548+52698insTCCCTCCCTCCCTTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449130	T T	TTCCGTAC others(8): Show TTCCGTACTTCCTCTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02717.hp1 HG02922.hp2 HG01361.hp1 HG02717.hp1 HG02922.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0016 a0003c0035 a0006c0008 a0001c0016 a0003c0035 a0006c0008	a0001c0016t0006 a0003c0035t0008 a0006c0008t0001 a0001c0016t0006 a0003c0035t0008 a0006c0008t0001	a0001c0016t0006g0039 a0003c0035t0008g0075 a0006c0008t0001g0006 a0001c0016t0006g0039 a0003c0035t0008g0075 a0006c0008t0001g0006	3	168	0.0179	15	c.548 others(34): Show c.548+52775_548+52776insTCCGTACTTCCTCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449153	T T	TCCCCTCC others(8): Show TCCCCTCCATCCCGCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02717.hp1 HG02922.hp2 HG01361.hp1 HG02717.hp1 HG02922.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0016 a0003c0035 a0006c0008 a0001c0016 a0003c0035 a0006c0008	a0001c0016t0006 a0003c0035t0008 a0006c0008t0001 a0001c0016t0006 a0003c0035t0008 a0006c0008t0001	a0001c0016t0006g0039 a0003c0035t0008g0075 a0006c0008t0001g0006 a0001c0016t0006g0039 a0003c0035t0008g0075 a0006c0008t0001g0006	3	130	0.0231	15	c.548 others(34): Show c.548+52799_548+52800insCCCTCCATCCCGCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104671325	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01167.hp2 HG01169.hp2 others(7): Show HG00140.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01257.hp1 HG04184.hp2 NA18941.hp2 NA19002.hp2 NA19012.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0098 a0001c0001t0002g0099 a0001c0001t0002g0103 others(7): Show a0001c0001t0001g0098 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0002t0001g0035 a0001c0002t0001g0102	10	15	0.6667	15	c.627 others(34): Show c.627+29384_627+29398dupTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696674	A A	ATATATAA others(8): Show ATATATAATATATACG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01175.hp2 HG01243.hp2 others(1): Show HG01123.hp1 HG01175.hp2 HG01243.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0001g0100 a0001c0001t0002g0099 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0100 a0001c0001t0002g0099 a0001c0001t0002g0133	4	128	0.0313	15	c.627 others(34): Show c.627+54720_627+54721insTATATAATATATACG	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26			chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696674	A A	ATATATAT others(8): Show ATATATATTATATACG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp2 HG01517.hp2 others(3): Show HG00140.hp2 HG01515.hp2 HG01517.hp2 HG02965.hp1 HG03688.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0098 a0001c0001t0002g0016 a0001c0001t0002g0019 others(3): Show a0001c0001t0001g0098 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0104 a0001c0001t0002g0115 a0001c0002t0001g0075	6	130	0.0462	15	c.627 others(34): Show c.627+54720_627+54721insTATATATTATATACG	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26			chr10	TogoVar
SORCS3_chr10_104636290_105270242	104735456	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG01123.hp1 others(10): Show HG00140.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01346.hp1 HG02622.hp1 HG02895.hp2 NA18941.hp2 NA18943.hp1 NA18988.hp1 NA19003.hp2 NA19090.hp2 NA20905.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0017 a0001c0001 a0001c0002 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0011c0017t0003	a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0098 others(10): Show a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0004g0039 a0001c0002t0001g0035 a0001c0002t0001g0102 a0001c0002t0002g0108 a0001c0002t0003g0004 a0011c0017t0003g0088	13	25	0.5200	15	c.627 others(34): Show c.627+93509_627+93523dupTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104786549	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp1 NA18943.hp2 others(3): Show HG02280.hp2 HG02976.hp1 NA18943.hp2 NA19003.hp2 NA19012.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0002g0093 a0001c0001t0002g0103 a0001c0001t0004g0107 others(3): Show a0001c0001t0002g0093 a0001c0001t0002g0103 a0001c0001t0004g0107 a0001c0001t0004g0125 a0001c0002t0002g0053 a0001c0002t0002g0108	6	65	0.0923	15	c.628 others(34): Show c.628-56229_628-56215dupATAATAATAATAATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940239	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	129	0.0078	15	c.795 others(34): Show c.795+24307_795+24308insATATATATATATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26			chr10	TogoVar
SORCS3_chr10_104636290_105270242	104945236	C C	CTGTTTTG others(8): Show CTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp2 HG03139.hp1 others(5): Show HG01884.hp2 HG02970.hp2 HG03139.hp1 HG06807.hp2 NA18906.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0008 a0005c0007 a0001c0001 a0004c0008 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0004c0008t0001 a0005c0007t0001	a0001c0001t0001g0122 a0001c0001t0002g0062 a0001c0001t0002g0065 others(5): Show a0001c0001t0001g0122 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0123 a0001c0001t0004g0066 a0004c0008t0001g0126 a0005c0007t0001g0060 a0005c0007t0001g0061	8	99	0.0808	15	c.795 others(34): Show c.795+29321_795+29335dupGTTTTGTTTTGTTTT	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(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	57	0.0175	15	c.954 others(34): Show c.954+26506_954+26507insTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105129331	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0131 a0002c0013t0002g0131	1	61	0.0164	15	c.121 others(36): Show c.1213-10065_1213-10064insCTCTCTCTCTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105182230	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	10	0.1000	15	c.200 others(34): Show c.2009+4066_2009+4080dupTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105207272	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02280.hp2 HG02970.hp2 others(3): Show HG01192.hp2 HG02280.hp2 HG02970.hp2 HG03098.hp1 HG06807.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0001t0004 a0001c0015t0002 a0001c0001t0002 a0001c0001t0004 a0001c0015t0002	a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0123 others(3): Show a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0123 a0001c0001t0004g0066 a0001c0001t0004g0125 a0001c0015t0002g0130	6	43	0.1395	15	c.226 others(34): Show c.2262-3847_2262-3833dupATTATTATTATTATT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121540522	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	26	0.0385	15	c.168 others(34): Show c.1686-3012_1686-3011insAAAAAAAAAAAAAAA	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(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0178 a0001c0012t0002g0178	1	11	0.0909	15	c.205 others(34): Show c.2051+2002_2051+2016dupAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS1_chr2_38976549_39126051	39003066	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0037 a0001c0001t0021g0037	1	160	0.0063	15	c.279 others(34): Show c.2791+3345_2791+3346insTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	17/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp2 HG02818.hp2 others(8): Show HG00738.hp2 HG01106.hp2 HG02818.hp2 NA18906.hp2 NA18952.hp1 NA18956.hp1 NA18967.hp2 NA19003.hp2 NA19012.hp2 NA19068.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0040 a0001c0002t0004 a0001c0002t0005 others(1): Show a0001c0001t0040 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008	a0001c0001t0040g0227 a0001c0002t0004g0028 a0001c0002t0004g0030 others(8): Show a0001c0001t0040g0227 a0001c0002t0004g0028 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0005g0026 a0001c0002t0005g0027 a0001c0002t0005g0034 a0001c0002t0005g0064 a0001c0002t0008g0017	11	60	0.1833	15	c.865 others(32): Show c.865-3247_865-3233dupTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50209321	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	377	0.0027	15	c.88- others(30): Show c.88-4913_88-4912insACACACACACACACA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50220405	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00558.hp2 others(90): Show HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01123.hp2 HG01255.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02735.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03516.hp1 HG03669.hp1 HG03704.hp2 HG04115.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18986.hp1 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0005c0010 a0007c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0003t0001 a0005c0010t0001 a0007c0015t0001	a0001c0001t0001g0109 a0001c0001t0001g0175 a0001c0001t0001g0176 others(90): Show a0001c0001t0001g0109 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0189 a0001c0001t0001g0204 a0001c0001t0001g0228 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0120 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0009g0060 a0001c0002t0010g0378 a0001c0002t0013g0381 a0001c0003t0001g0052 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0114 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0348 a0001c0003t0001g0349 a0001c0003t0001g0350 a0001c0003t0001g0351 a0001c0003t0001g0352 a0001c0003t0001g0360 a0005c0010t0001g0061 a0007c0015t0001g0036	93	132	0.7045	15	c.87+ others(32): Show c.87+10777_87+10791dupTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50220405	C C	CGAAAAAA others(8): Show CGAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	40	0.0250	15	c.87+ others(32): Show c.87+10791_87+10792insTTTTTTTTTTTTTTC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOX11_chr2_5687384_5706385	5688867	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	15	c.-38 others(26): Show c.-3855_-3854insGTGTGTGTGTGTGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		3516		chr2	TogoVar
SOX13_chr1_204068115_204132743	204105413	C C	CTCTTTTT others(8): Show CTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03139.hp2 HG03453.hp2 others(2): Show HG01243.hp2 HG03139.hp2 HG03453.hp2 HG03831.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0056 a0001c0001t0001g0214 a0001c0001t0002g0149 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0214 a0001c0001t0002g0149 a0001c0001t0005g0213 a0001c0001t0006g0187	5	142	0.0352	15	c.-1- others(30): Show c.-1-7501_-1-7500insCTTTTTTTTTTTTTT	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOX13_chr1_204068115_204132743	204105413	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02258.hp1 HG02280.hp2 others(4): Show HG02027.hp2 HG02258.hp1 HG02280.hp2 HG02647.hp1 HG02818.hp2 HG02895.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0006	a0001c0001t0001g0157 a0001c0001t0002g0345 a0001c0001t0005g0158 others(4): Show a0001c0001t0001g0157 a0001c0001t0002g0345 a0001c0001t0005g0158 a0002c0002t0006g0043 a0002c0002t0006g0044 a0002c0002t0006g0045 a0002c0002t0006g0046	7	144	0.0486	15	c.-1- others(30): Show c.-1-7492_-1-7491insTTTTTTTTTTTTTTT	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOX13_chr1_204068115_204132743	204129987	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0341 a0001c0001t0002g0341	1	38	0.0263	15	c.38 others(26): Show c.3853_*3854insGGGGGGGGGGGGGGG	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding		2245		chr1	TogoVar
SOX30_chr5_157620679_157657438	157632047	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp1 HG01255.hp2 others(8): Show HG00738.hp1 HG01175.hp1 HG01255.hp2 HG01891.hp2 HG01981.hp1 HG03041.hp2 HG03471.hp1 HG03579.hp2 NA19063.hp1 NA19087.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0001 a0004c0007t0001 a0001c0002t0001 a0004c0007t0001	a0001c0002t0001g0022 a0001c0002t0001g0068 a0001c0002t0001g0074 others(7): Show a0001c0002t0001g0022 a0001c0002t0001g0068 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0087 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0004c0007t0001g0107 a0004c0007t0001g0110	11	131	0.0840	15	c.188 others(34): Show c.1881-5341_1881-5327dupTTTTTTTTTTTTTTT	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0207 a0001c0001t0084g0207	1	12	0.0833	15	c.116 others(34): Show c.1165-2294_1165-2280dupTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23674336	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0177 a0001c0001t0013g0177	1	5	0.2000	15	c.811 others(32): Show c.811-8787_811-8773dupAAAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23715292	C C	CAAAATAA others(8): Show CAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01168.hp2 others(6): Show HG00639.hp2 HG01106.hp1 HG01168.hp2 HG01258.hp1 HG01261.hp2 HG01516.hp1 HG02486.hp2 HG02683.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 others(6): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0038 a0001c0001t0058 a0001c0001t0094 a0001c0001t0110 a0001c0003t0080	a0001c0001t0010g0003 a0001c0001t0012g0116 a0001c0001t0021g0139 others(6): Show a0001c0001t0010g0003 a0001c0001t0012g0116 a0001c0001t0021g0139 a0001c0001t0022g0176 a0001c0001t0038g0168 a0001c0001t0058g0132 a0001c0001t0094g0133 a0001c0001t0110g0056 a0001c0003t0080g0183	9	135	0.0667	15	c.810 others(34): Show c.810+19377_810+19391dupATTTTATTTTATTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23792622	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	14	0.0714	15	c.482 others(34): Show c.482-36913_482-36899dupTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23860952	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03017.hp1 NA18957.hp1 others(3): Show HG02165.hp2 HG03017.hp1 NA18957.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0033 a0001c0001t0040 others(3): Show a0001c0001t0019 a0001c0001t0033 a0001c0001t0040 a0001c0001t0041 a0001c0001t0075 a0001c0001t0097	a0001c0001t0019g0066 a0001c0001t0033g0065 a0001c0001t0040g0046 others(3): Show a0001c0001t0019g0066 a0001c0001t0033g0065 a0001c0001t0040g0046 a0001c0001t0041g0010 a0001c0001t0075g0073 a0001c0001t0097g0062	6	145	0.0414	15	c.271 others(34): Show c.271-14774_271-14760dupTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23872164	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG03209.hp1 HG02109.hp1 HG02257.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0018 a0001c0001t0049 a0001c0001t0007 a0001c0001t0018 a0001c0001t0049	a0001c0001t0007g0023 a0001c0001t0018g0022 a0001c0001t0049g0021 a0001c0001t0007g0023 a0001c0001t0018g0022 a0001c0001t0049g0021	3	88	0.0341	15	c.270 others(34): Show c.270+23614_270+23628dupAAAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16146619	T T	TATCCAGA others(8): Show TATCCAGAATCTACAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	216	0.0046	15	c.778 others(34): Show c.778-34711_778-34697dupTTGTAGATTCTGGAT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16268483	T T	TATGATAT others(8): Show TATGATATGATATATG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	216	0.0046	15	c.446 others(34): Show c.446-33827_446-33813dupCATATATCATATCAT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230497488	G G	GGAGGAGA others(8): Show GGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01516.hp2 HG02486.hp2 others(2): Show HG00140.hp1 HG01516.hp2 HG02486.hp2 HG02922.hp1 HG03942.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0006 a0009c0018 a0001c0001 a0004c0006 a0009c0018	a0001c0001t0021 a0004c0006t0004 a0009c0018t0004 a0001c0001t0021 a0004c0006t0004 a0009c0018t0004	a0001c0001t0021g0090 a0004c0006t0004g0153 a0004c0006t0004g0238 others(2): Show a0001c0001t0021g0090 a0004c0006t0004g0153 a0004c0006t0004g0238 a0004c0006t0004g0282 a0009c0018t0004g0043	5	206	0.0243	15	c.164 others(32): Show c.1646-927_1646-913dupGAGGAGAGGAGAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497524	G G	GAGGAAAG others(8): Show GAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0271 a0003c0004t0003g0271	1	278	0.0036	15	c.164 others(32): Show c.1646-933_1646-932insAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497529	G G	GAGGAAAG others(8): Show GAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0137 a0003c0004t0003g0137	1	264	0.0038	15	c.164 others(32): Show c.1646-928_1646-927insAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497534	G G	GAGGAAAG others(8): Show GAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0002 a0001c0003t0008g0002	1	197	0.0051	15	c.164 others(32): Show c.1646-923_1646-922insAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497544	G G	GAGGAAAG others(8): Show GAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0277 a0004c0006t0004g0277	1	143	0.0070	15	c.164 others(32): Show c.1646-857_1646-843dupAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497544	G G	GAGGAGAG others(8): Show GAGGAGAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0103 a0003c0004t0003g0103	1	143	0.0070	15	c.164 others(32): Show c.1646-913_1646-912insGAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP110_chr2_230160186_230224984	230206595	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	36	0.0278	15	c.898 others(32): Show c.898+1395_898+1396insTATATATATATATAT	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar

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