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
SEMA3C_chr7_80737538_80924051	80905267	AGAGAGAG others(3): Show AGAGAGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0119 a0001c0006t0001g0119	1	244	0.0041	-10	c.103 others(29): Show c.103+11402_103+11411delCCCCTCTCTC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85010838	AATAGCCT others(3): Show AATAGCCTCTG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01952.hp1 HG01978.hp2 others(4): Show HG01496.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02293.hp1 HG02300.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0205 a0001c0001t0002g0206 others(4): Show a0001c0001t0002g0193 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0222 a0001c0001t0002g0228	7	266	0.0263	-10	c.176 others(29): Show c.1768+1934_1768+1943delCAGAGGCTAT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	17/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85050072	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp1 HG01258.hp1 others(3): Show HG01175.hp1 HG01243.hp1 HG01258.hp1 HG02683.hp1 HG03471.hp2 HG03834.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0007 others(1): Show a0001c0001 a0002c0003 a0002c0007 a0003c0008	a0001c0001t0046 a0002c0003t0006 a0002c0007t0018 others(1): Show a0001c0001t0046 a0002c0003t0006 a0002c0007t0018 a0003c0008t0009	a0001c0001t0046g0249 a0002c0003t0006g0234 a0002c0007t0018g0120 others(3): Show a0001c0001t0046g0249 a0002c0003t0006g0234 a0002c0007t0018g0120 a0002c0007t0018g0121 a0003c0008t0009g0085 a0003c0008t0009g0097	6	266	0.0226	-10	c.861 others(27): Show c.861+5635_861+5644delGTGTGTGTGT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	9/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85055645	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp1 HG02257.hp1 others(7): Show HG00609.hp1 HG02056.hp1 HG02257.hp1 HG02615.hp1 HG02922.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp2 HG03927.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0014 a0001c0001t0041 others(5): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0006t0019 a0002c0002t0003 a0002c0002t0035	a0001c0001t0001g0127 a0001c0001t0014g0039 a0001c0001t0014g0049 others(7): Show a0001c0001t0001g0127 a0001c0001t0014g0039 a0001c0001t0014g0049 a0001c0001t0041g0245 a0001c0001t0042g0246 a0001c0001t0043g0211 a0001c0006t0019g0186 a0002c0002t0003g0001 a0002c0002t0003g0003 a0002c0002t0035g0231	10	266	0.0376	-10	c.861 others(23): Show c.861+62_861+71delATATATATAT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	9/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85151598	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0249 a0001c0001t0046g0249	1	266	0.0038	-10	c.-41 others(27): Show c.-41+2000_-41+2009delACACACACAC	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	2/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85181319	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02976.hp2 others(1): Show HG02559.hp1 HG02559.hp2 HG02976.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0041 a0001c0001t0042 a0001c0004t0002 others(1): Show a0001c0001t0041 a0001c0001t0042 a0001c0004t0002 a0002c0002t0010	a0001c0001t0041g0245 a0001c0001t0042g0246 a0001c0004t0002g0244 others(1): Show a0001c0001t0041g0245 a0001c0001t0042g0246 a0001c0004t0002g0244 a0002c0002t0010g0191	4	266	0.0150	-10	c.-17 others(29): Show c.-173+5349_-173+5358delGTGTGTGTGT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	1/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83363859	CATTTTTT others(3): Show CATTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG03195.hp2 HG02895.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0077 a0001c0001t0035 a0001c0001t0077	a0001c0001t0035g0001 a0001c0001t0077g0153 a0001c0001t0035g0001 a0001c0001t0077g0153	2	226	0.0089	-10	c.37 others(21): Show c.3717_*3726delAAAAAAAAAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	17/17	3717		chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83363860	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02083.hp2 others(1): Show HG01070.hp1 HG01071.hp1 HG02083.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0030 a0001c0001t0046 a0001c0003t0099 a0001c0001t0030 a0001c0001t0046 a0001c0003t0099	a0001c0001t0030g0141 a0001c0001t0030g0143 a0001c0001t0046g0034 others(1): Show a0001c0001t0030g0141 a0001c0001t0030g0143 a0001c0001t0046g0034 a0001c0003t0099g0203	4	226	0.0177	-10	c.37 others(21): Show c.3716_*3725delAAAAAAAAAA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	17/17	3716		chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83443916	GATATATA others(3): Show GATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG02559.hp1 others(13): Show HG01243.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG03041.hp1 HG03195.hp1 NA18522.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0002c0004	a0001c0001t0004 a0001c0005t0006 a0001c0005t0013 others(7): Show a0001c0001t0004 a0001c0005t0006 a0001c0005t0013 a0001c0005t0015 a0001c0005t0087 a0001c0006t0082 a0001c0008t0015 a0001c0008t0054 a0001c0008t0065 a0002c0004t0090	a0001c0001t0004g0182 a0001c0005t0006g0043 a0001c0005t0006g0044 others(13): Show a0001c0001t0004g0182 a0001c0005t0006g0043 a0001c0005t0006g0044 a0001c0005t0006g0045 a0001c0005t0006g0048 a0001c0005t0006g0049 a0001c0005t0013g0054 a0001c0005t0013g0055 a0001c0005t0013g0057 a0001c0005t0015g0180 a0001c0005t0087g0156 a0001c0006t0082g0167 a0001c0008t0015g0185 a0001c0008t0054g0051 a0001c0008t0065g0071 a0002c0004t0090g0176	16	226	0.0708	-10	c.456 others(29): Show c.456+22556_456+22565delATATATATAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83449969	TCTTAAAT others(3): Show TCTTAAATGGC	T T	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0074 a0002c0004t0074	a0002c0004t0074g0162 a0002c0004t0074g0162	1	226	0.0044	-10	c.456 others(29): Show c.456+16503_456+16512delGCCATTTAAG	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83528091	ACTATAAT others(3): Show ACTATAATGCC	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0110 a0001c0002t0008g0110	1	226	0.0044	-10	c.116 others(29): Show c.116-37827_116-37818delGGCATTATAG	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83533554	GATAAAAT others(3): Show GATAAAATAAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02145.hp1 others(9): Show HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02572.hp1 HG02630.hp2 HG02683.hp2 HG02809.hp1 HG02965.hp2 NA18954.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0014 a0002c0004	a0001c0001t0019 a0001c0001t0024 a0001c0001t0037 others(6): Show a0001c0001t0019 a0001c0001t0024 a0001c0001t0037 a0001c0002t0001 a0001c0005t0039 a0001c0006t0082 a0001c0008t0054 a0001c0014t0009 a0002c0004t0090	a0001c0001t0019g0163 a0001c0001t0019g0165 a0001c0001t0019g0166 others(9): Show a0001c0001t0019g0163 a0001c0001t0019g0165 a0001c0001t0019g0166 a0001c0001t0024g0005 a0001c0001t0037g0003 a0001c0002t0001g0098 a0001c0002t0001g0102 a0001c0005t0039g0002 a0001c0006t0082g0167 a0001c0008t0054g0051 a0001c0014t0009g0164 a0002c0004t0090g0176	12	226	0.0531	-10	c.116 others(29): Show c.116-43290_116-43281delTTTATTTTAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83539855	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0085 a0002c0004t0085	a0002c0004t0085g0095 a0002c0004t0085g0095	1	226	0.0044	-10	c.116 others(29): Show c.116-49591_116-49582delCACACACACA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83545898	ATATTATA others(3): Show ATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp1 HG00735.hp1 others(21): Show HG00438.hp2 HG00733.hp1 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01167.hp2 HG01243.hp2 HG01928.hp1 HG02083.hp1 HG02148.hp2 HG02698.hp1 HG02886.hp2 HG03490.hp1 HG03491.hp1 HG03942.hp1 HG04204.hp1 NA18951.hp2 NA18961.hp1 NA18983.hp2 NA18995.hp1 NA19004.hp1 NA19060.hp1 NA19074.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0008 a0001c0002t0014 a0001c0002t0072 a0001c0002t0080 a0001c0003t0001 a0001c0003t0002 a0001c0003t0020 a0001c0003t0079 a0001c0005t0021 a0001c0005t0062 a0002c0004t0003	a0001c0001t0001g0088 a0001c0001t0004g0182 a0001c0001t0009g0092 others(21): Show a0001c0001t0001g0088 a0001c0001t0004g0182 a0001c0001t0009g0092 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0008g0089 a0001c0002t0014g0087 a0001c0002t0072g0083 a0001c0002t0080g0094 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0082 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0002g0078 a0001c0003t0002g0080 a0001c0003t0002g0086 a0001c0003t0002g0096 a0001c0003t0020g0075 a0001c0003t0020g0081 a0001c0003t0079g0076 a0001c0005t0021g0074 a0001c0005t0062g0063 a0002c0004t0003g0090	24	226	0.1062	-10	c.116 others(29): Show c.116-55634_116-55625delATATATAATA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83546321	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02886.hp1 others(7): Show HG01243.hp1 HG01884.hp1 HG02886.hp1 HG03225.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0001c0010 a0002c0004 a0003c0009	a0001c0001t0023 a0001c0003t0020 a0001c0008t0015 others(6): Show a0001c0001t0023 a0001c0003t0020 a0001c0008t0015 a0001c0010t0058 a0001c0010t0059 a0001c0010t0060 a0002c0004t0091 a0003c0009t0061 a0003c0009t0066	a0001c0001t0023g0186 a0001c0001t0023g0187 a0001c0003t0020g0075 others(7): Show a0001c0001t0023g0186 a0001c0001t0023g0187 a0001c0003t0020g0075 a0001c0008t0015g0185 a0001c0010t0058g0060 a0001c0010t0059g0059 a0001c0010t0060g0061 a0002c0004t0091g0189 a0003c0009t0061g0062 a0003c0009t0066g0067	10	226	0.0443	-10	c.116 others(29): Show c.116-56057_116-56048delACACACACAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83593280	CTCTCTGT others(3): Show CTCTCTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp1 HG03471.hp1 HG02615.hp1 HG03195.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0021 a0001c0005t0013 a0001c0005t0021	a0001c0005t0013g0054 a0001c0005t0013g0055 a0001c0005t0021g0157 a0001c0005t0013g0054 a0001c0005t0013g0055 a0001c0005t0021g0157	3	226	0.0133	-10	c.115 others(29): Show c.115+55138_115+55147delCACACAGAGA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83593284	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0021 a0001c0005t0021	a0001c0005t0021g0101 a0001c0005t0021g0101	1	226	0.0044	-10	c.115 others(29): Show c.115+55134_115+55143delCACACACACA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83600486	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp1 HG00735.hp1 others(37): Show HG00438.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01167.hp2 HG01243.hp1 HG01515.hp2 HG01891.hp2 HG02055.hp2 HG02083.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02683.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03942.hp1 HG04204.hp1 NA18951.hp2 NA18961.hp1 NA18983.hp2 NA18995.hp1 NA19004.hp1 NA19060.hp1 NA19074.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 others(19): Show a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0002t0001 a0001c0002t0008 a0001c0002t0014 a0001c0002t0032 a0001c0002t0034 a0001c0002t0080 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0020 a0001c0003t0079 a0001c0005t0015 a0001c0005t0028 a0002c0004t0003 a0002c0004t0018 a0002c0004t0031 a0002c0004t0089 a0002c0004t0091	a0001c0001t0022g0177 a0001c0001t0022g0199 a0001c0001t0022g0200 others(37): Show a0001c0001t0022g0177 a0001c0001t0022g0199 a0001c0001t0022g0200 a0001c0001t0023g0186 a0001c0001t0029g0172 a0001c0001t0031g0192 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0008g0089 a0001c0002t0014g0087 a0001c0002t0032g0188 a0001c0002t0034g0224 a0001c0002t0080g0094 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0082 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0002g0078 a0001c0003t0002g0080 a0001c0003t0002g0086 a0001c0003t0002g0096 a0001c0003t0004g0193 a0001c0003t0004g0194 a0001c0003t0004g0195 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0003t0004g0198 a0001c0003t0020g0075 a0001c0003t0079g0076 a0001c0005t0015g0180 a0001c0005t0015g0201 a0001c0005t0015g0202 a0001c0005t0028g0069 a0001c0005t0028g0070 a0002c0004t0003g0090 a0002c0004t0018g0171 a0002c0004t0031g0178 a0002c0004t0089g0179 a0002c0004t0091g0189	40	226	0.1770	-10	c.115 others(29): Show c.115+47932_115+47941delAAAAAAAAAA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83629069	GCTGGAGT others(3): Show GCTGGAGTTCA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0065 a0001c0008t0065	a0001c0008t0065g0071 a0001c0008t0065g0071	1	226	0.0044	-10	c.115 others(29): Show c.115+19349_115+19358delTGAACTCCAG	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83639108	CTCAAAAA others(3): Show CTCAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp2 HG03209.hp2 HG02109.hp2 HG02818.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0063 a0001c0001t0064 a0001c0005t0015 a0001c0001t0063 a0001c0001t0064 a0001c0005t0015	a0001c0001t0063g0065 a0001c0001t0064g0064 a0001c0005t0015g0180 a0001c0001t0063g0065 a0001c0001t0064g0064 a0001c0005t0015g0180	3	226	0.0133	-10	c.115 others(27): Show c.115+9310_115+9319delTTTTTTTTGA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83639110	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0066 a0003c0009t0066	a0003c0009t0066g0067 a0003c0009t0066g0067	1	226	0.0044	-10	c.115 others(27): Show c.115+9308_115+9317delTTTTTTTTTT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3G_chr3_52428035_52450103	52448230	CCTCAGCT others(3): Show CCTCAGCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	310	0.0032	-10	c.-32 others(21): Show c.-3213_-3204delAAGAGCTGAG	SEMA3G	ENSG00000010319.7	transcript	ENST00000231721.7	protein_coding		3128		chr3	TogoVar
SEMA4A_chr1_156148585_156182744	156151838	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02486.hp2 NA18906.hp2 others(1): Show HG01496.hp1 HG02486.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0132 a0001c0002t0002g0133 others(1): Show a0001c0002t0002g0129 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134	4	374	0.0107	-10	c.-19 others(21): Show c.-1955_-1946delAAAAAAAAAA	SEMA4A	ENSG00000196189.14	transcript	ENST00000368285.8	protein_coding		1746		chr1	TogoVar
SEMA4A_chr1_156148585_156182744	156153334	GAGAAGAA others(3): Show GAGAAGAAACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0282 a0002c0003t0001g0282	1	374	0.0027	-10	c.-45 others(19): Show c.-459_-450delAGAAGAAACC	SEMA4A	ENSG00000196189.14	transcript	ENST00000368285.8	protein_coding		250		chr1	TogoVar
SEMA4A_chr1_156148585_156182744	156179113	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02145.hp2 HG02257.hp1 others(22): Show HG01255.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp1 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0007 a0001c0001 a0001c0002 a0009c0007	a0001c0001t0001 a0001c0002t0002 a0009c0007t0001 a0001c0001t0001 a0001c0002t0002 a0009c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0043 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0002t0002g0054 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0124 a0001c0002t0002g0147 a0009c0007t0001g0141	25	374	0.0668	-10	c.21 others(21): Show c.2117_*2126delTGTGTGTGTG	SEMA4A	ENSG00000196189.14	transcript	ENST00000368285.8	protein_coding		1370		chr1	TogoVar
SEMA4B_chr15_90196330_90234660	90220362	CTTTTCTT others(3): Show CTTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0261 a0001c0005t0003g0261	1	420	0.0024	-10	c.483 others(25): Show c.483+476_483+485delCTTTTTTTTT	SEMA4B	ENSG00000185033.15	transcript	ENST00000411539.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
SEMA4D_chr9_89372235_89503113	89421780	GGTGTGTG others(3): Show GGTGTGTGACC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp2 HG02615.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0003 a0001c0001t0010 a0001c0003t0003	a0001c0001t0010g0165 a0001c0003t0003g0037 a0001c0001t0010g0165 a0001c0003t0003g0037	2	370	0.0054	-10	c.-24 others(31): Show c.-243-16091_-243-16082delGGTCACACAC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89450659	GGAAAAAA others(3): Show GGAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02896.hp1 HG02897.hp2 others(2): Show HG01943.hp1 HG02896.hp1 HG02897.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0174 others(2): Show a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0174 a0001c0003t0001g0175 a0002c0002t0001g0179	5	370	0.0135	-10	c.-24 others(29): Show c.-244+5219_-244+5228delTTTTTTTTTC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89450660	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp2 HG02615.hp1 others(1): Show HG01109.hp2 HG01168.hp2 HG02615.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0010 a0001c0003t0003 a0001c0007t0001 a0001c0001t0010 a0001c0003t0003 a0001c0007t0001	a0001c0001t0010g0165 a0001c0003t0003g0037 a0001c0007t0001g0168 others(1): Show a0001c0001t0010g0165 a0001c0003t0003g0037 a0001c0007t0001g0168 a0001c0007t0001g0169	4	370	0.0108	-10	c.-24 others(29): Show c.-244+5218_-244+5227delTTTTTTTTTT	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9096554	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0052 a0001c0005t0001g0052	1	134	0.0075	-10	c.207 others(31): Show c.2073+11576_2073+11585delCACACACACA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9131607	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0129 a0001c0001t0068g0129	1	134	0.0075	-10	c.159 others(29): Show c.1599+4887_1599+4896delTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9131649	AAAAAAAA others(3): Show AAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0025 a0001c0007t0025	a0001c0007t0025g0062 a0001c0007t0025g0062	1	134	0.0075	-10	c.159 others(29): Show c.1599+4845_1599+4854delGTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9162402	GTGTATAT others(3): Show GTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02258.hp2 HG03139.hp1 others(1): Show HG00741.hp2 HG02258.hp2 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0081 a0001c0001t0001 a0001c0001t0002 a0001c0001t0081	a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0002g0131 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0002g0131 a0001c0001t0081g0133	4	134	0.0299	-10	c.127 others(29): Show c.1274-7717_1274-7708delTATATATACA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	11/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9197728	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp2 HG02809.hp2 others(2): Show HG01123.hp1 HG01243.hp2 HG02809.hp2 HG03471.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0014 a0001c0001 a0001c0007 a0002c0014	a0001c0001t0001 a0001c0001t0035 a0001c0007t0017 others(2): Show a0001c0001t0001 a0001c0001t0035 a0001c0007t0017 a0001c0007t0031 a0002c0014t0057	a0001c0001t0001g0010 a0001c0001t0035g0059 a0001c0007t0017g0084 others(2): Show a0001c0001t0001g0010 a0001c0001t0035g0059 a0001c0007t0017g0084 a0001c0007t0031g0012 a0002c0014t0057g0087	5	134	0.0373	-10	c.933 others(25): Show c.933-435_933-426delCACACACACA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	9/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9197778	GTGTGTGT others(3): Show GTGTGTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp2 HG03195.hp2 others(1): Show HG02486.hp1 HG03130.hp2 HG03195.hp2 NA18961.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0021 a0003c0020 a0001c0003 a0001c0021 a0003c0020	a0001c0003t0001 a0001c0003t0080 a0001c0021t0020 others(1): Show a0001c0003t0001 a0001c0003t0080 a0001c0021t0020 a0003c0020t0071	a0001c0003t0001g0027 a0001c0003t0080g0132 a0001c0021t0020g0004 others(1): Show a0001c0003t0001g0027 a0001c0003t0080g0132 a0001c0021t0020g0004 a0003c0020t0071g0108	4	134	0.0299	-10	c.933 others(25): Show c.933-485_933-476delAAAACACACA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	9/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9207102	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01515.hp1 HG01517.hp1 others(11): Show HG01123.hp1 HG01515.hp1 HG01517.hp1 HG02451.hp1 HG02559.hp2 HG02896.hp1 HG02897.hp2 HG03225.hp2 HG03654.hp1 NA18944.hp1 NA18964.hp1 NA18970.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011	a0001c0001t0015 a0001c0001t0046 a0001c0002t0002 others(9): Show a0001c0001t0015 a0001c0001t0046 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0006t0007 a0001c0007t0016 a0001c0007t0017 a0001c0009t0002 a0001c0011t0037	a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0001t0046g0023 others(11): Show a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0001t0046g0023 a0001c0002t0002g0099 a0001c0004t0001g0041 a0001c0004t0002g0120 a0001c0004t0002g0121 a0001c0005t0001g0054 a0001c0006t0001g0078 a0001c0006t0007g0088 a0001c0007t0016g0095 a0001c0007t0017g0084 a0001c0009t0002g0113 a0001c0011t0037g0065	14	134	0.1045	-10	c.647 others(27): Show c.647-4872_647-4863delTATATATATA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	8/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9299100	TGGTGGGC others(3): Show TGGTGGGCATC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01243.hp1 others(20): Show HG00280.hp2 HG00741.hp1 HG01243.hp1 HG02257.hp1 HG02559.hp2 HG02572.hp1 HG02683.hp2 HG02897.hp1 HG03139.hp1 HG03195.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp2 NA18522.hp1 NA18944.hp2 NA18960.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0001c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0081 a0001c0002t0004 a0001c0002t0009 a0001c0003t0006 a0001c0003t0019 a0001c0003t0051 a0001c0004t0010 a0001c0004t0062 a0001c0004t0069 a0001c0005t0001 a0001c0006t0001 a0001c0006t0007 a0001c0006t0058 a0001c0008t0027 a0001c0010t0075 a0001c0010t0076 a0001c0011t0037 a0001c0017t0074	a0001c0001t0001g0076 a0001c0001t0003g0029 a0001c0001t0008g0111 others(20): Show a0001c0001t0001g0076 a0001c0001t0003g0029 a0001c0001t0008g0111 a0001c0001t0008g0122 a0001c0001t0011g0028 a0001c0001t0081g0133 a0001c0002t0004g0026 a0001c0002t0009g0003 a0001c0003t0006g0074 a0001c0003t0019g0104 a0001c0003t0051g0079 a0001c0004t0010g0049 a0001c0004t0062g0114 a0001c0004t0069g0103 a0001c0005t0001g0005 a0001c0006t0001g0024 a0001c0006t0007g0088 a0001c0006t0058g0083 a0001c0008t0027g0035 a0001c0010t0075g0107 a0001c0010t0076g0125 a0001c0011t0037g0065 a0001c0017t0074g0105	23	134	0.1716	-10	c.270 others(29): Show c.270+19262_270+19271delGATGCCCACC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	5/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353060	GAAGGAAA others(3): Show GAAGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0071 a0003c0020t0071	a0003c0020t0071g0108 a0003c0020t0071g0108	1	134	0.0075	-10	c.125 others(29): Show c.125-15258_125-15249delTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353354	GAAGGAAA others(3): Show GAAGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02572.hp2 others(4): Show HG02257.hp1 HG02559.hp1 HG02572.hp2 HG03098.hp2 HG03139.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0016 others(1): Show a0001c0001 a0001c0010 a0001c0016 a0001c0017	a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 a0001c0001t0078 a0001c0010t0075 a0001c0016t0038 a0001c0017t0074	a0001c0001t0001g0076 a0001c0001t0008g0111 a0001c0001t0016g0090 others(4): Show a0001c0001t0001g0076 a0001c0001t0008g0111 a0001c0001t0016g0090 a0001c0001t0078g0109 a0001c0010t0075g0107 a0001c0016t0038g0037 a0001c0017t0074g0105	7	134	0.0522	-10	c.125 others(29): Show c.125-15552_125-15543delTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9374622	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0003 a0001c0002t0009g0003	1	134	0.0075	-10	c.124 others(27): Show c.124+5191_124+5200delACACACACAC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384637	TAGATAGA others(3): Show TAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02572.hp1 HG02897.hp1 others(2): Show HG00140.hp2 HG02572.hp1 HG02897.hp1 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0003 a0001c0001t0008 a0001c0001t0066 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0066 a0001c0004t0001 a0001c0005t0007	a0001c0001t0003g0029 a0001c0001t0008g0122 a0001c0001t0066g0106 others(2): Show a0001c0001t0003g0029 a0001c0001t0008g0122 a0001c0001t0066g0106 a0001c0004t0001g0020 a0001c0005t0007g0086	5	134	0.0373	-10	c.-77 others(27): Show c.-77-4624_-77-4615delCTATCTATCT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384665	GATAGATA others(3): Show GATAGATAGAT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01981.hp2 HG02451.hp2 others(7): Show HG00642.hp2 HG01981.hp2 HG02451.hp2 HG02572.hp1 HG02647.hp2 HG02897.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0003 a0001c0001t0008 a0001c0001t0023 others(7): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0023 a0001c0001t0061 a0001c0001t0066 a0001c0002t0022 a0001c0004t0069 a0001c0005t0007 a0001c0006t0044 a0001c0007t0031	a0001c0001t0003g0029 a0001c0001t0008g0122 a0001c0001t0023g0017 others(7): Show a0001c0001t0003g0029 a0001c0001t0008g0122 a0001c0001t0023g0017 a0001c0001t0061g0116 a0001c0001t0066g0106 a0001c0002t0022g0073 a0001c0004t0069g0103 a0001c0005t0007g0086 a0001c0006t0044g0009 a0001c0007t0031g0012	10	134	0.0746	-10	c.-77 others(27): Show c.-77-4652_-77-4643delATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9426432	TAAATAAA others(3): Show TAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02572.hp2 HG03516.hp2 others(1): Show HG01517.hp2 HG02572.hp2 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0016 a0001c0001t0033 others(1): Show a0001c0001t0008 a0001c0001t0016 a0001c0001t0033 a0001c0002t0001	a0001c0001t0008g0111 a0001c0001t0016g0090 a0001c0001t0033g0057 others(1): Show a0001c0001t0008g0111 a0001c0001t0016g0090 a0001c0001t0033g0057 a0001c0002t0001g0069	4	134	0.0299	-10	c.-78 others(29): Show c.-78+11314_-78+11323delTATTTTATTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9428088	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG00738.hp2 others(41): Show HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01243.hp2 HG02040.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02683.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04115.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18989.hp1 NA18989.hp2 NA19012.hp2 NA19030.hp1 NA19068.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0015 a0001c0016 a0001c0021 a0002c0014 a0003c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(37): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0035 a0001c0001t0054 a0001c0001t0056 a0001c0001t0061 a0001c0002t0004 a0001c0002t0060 a0001c0003t0006 a0001c0003t0012 a0001c0003t0051 a0001c0003t0072 a0001c0003t0079 a0001c0003t0080 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0049 a0001c0005t0001 a0001c0005t0048 a0001c0006t0001 a0001c0006t0021 a0001c0006t0043 a0001c0007t0016 a0001c0007t0025 a0001c0007t0031 a0001c0007t0034 a0001c0008t0001 a0001c0008t0027 a0001c0010t0076 a0001c0013t0036 a0001c0015t0008 a0001c0016t0038 a0001c0021t0020 a0002c0014t0057 a0003c0020t0071	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0042 others(41): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0003g0029 a0001c0001t0008g0122 a0001c0001t0013g0056 a0001c0001t0016g0090 a0001c0001t0018g0098 a0001c0001t0035g0059 a0001c0001t0054g0094 a0001c0001t0056g0096 a0001c0001t0061g0116 a0001c0002t0004g0034 a0001c0002t0060g0085 a0001c0003t0006g0074 a0001c0003t0012g0068 a0001c0003t0051g0079 a0001c0003t0072g0124 a0001c0003t0079g0126 a0001c0003t0080g0132 a0001c0004t0001g0030 a0001c0004t0001g0039 a0001c0004t0002g0120 a0001c0004t0002g0121 a0001c0004t0005g0044 a0001c0004t0049g0011 a0001c0005t0001g0005 a0001c0005t0048g0022 a0001c0006t0001g0024 a0001c0006t0021g0001 a0001c0006t0043g0007 a0001c0007t0016g0095 a0001c0007t0025g0062 a0001c0007t0031g0012 a0001c0007t0034g0033 a0001c0008t0001g0046 a0001c0008t0027g0035 a0001c0010t0076g0125 a0001c0013t0036g0008 a0001c0015t0008g0112 a0001c0016t0038g0037 a0001c0021t0020g0004 a0002c0014t0057g0087 a0003c0020t0071g0108	44	134	0.3284	-10	c.-78 others(27): Show c.-78+9658_-78+9667delTATATATATA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9545510	AGCGGCGC others(3): Show AGCGGCGCGGC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	134	0.0075	-10	c.-17 others(25): Show c.-175+64_-175+73delGCCGCGCCGC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	1/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122909265	TTGTGTGT others(3): Show TTGTGTGTGCG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01884.hp2 others(16): Show HG00639.hp1 HG00735.hp1 HG01884.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02572.hp2 HG02647.hp1 HG02965.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA20300.hp2	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0011 a0017	a0001c0004 a0001c0005 a0006c0009 others(3): Show a0001c0004 a0001c0005 a0006c0009 a0007c0011 a0011c0017 a0017c0020	a0001c0004t0017 a0001c0005t0003 a0001c0005t0024 others(5): Show a0001c0004t0017 a0001c0005t0003 a0001c0005t0024 a0006c0009t0003 a0006c0009t0017 a0007c0011t0003 a0011c0017t0016 a0017c0020t0003	a0001c0004t0017g0017 a0001c0005t0003g0026 a0001c0005t0003g0038 others(16): Show a0001c0004t0017g0017 a0001c0005t0003g0026 a0001c0005t0003g0038 a0001c0005t0003g0050 a0001c0005t0003g0171 a0001c0005t0003g0173 a0001c0005t0003g0179 a0001c0005t0003g0195 a0001c0005t0024g0136 a0006c0009t0003g0023 a0006c0009t0003g0039 a0006c0009t0003g0045 a0006c0009t0017g0014 a0007c0011t0003g0169 a0007c0011t0003g0181 a0007c0011t0003g0283 a0011c0017t0016g0011 a0011c0017t0016g0012 a0017c0020t0003g0029	19	290	0.0655	-10	c.86 others(19): Show c.868_*877delCGCACACACA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	23/23	868		chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122932243	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00639.hp1 others(30): Show HG00280.hp1 HG00408.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01361.hp1 HG01934.hp1 HG02055.hp1 HG02109.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03491.hp1 HG04184.hp1 HG06807.hp2 NA18906.hp2 NA18990.hp1 NA19030.hp1 NA19043.hp2 NA19074.hp2 NA20300.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0007 a0009 a0013 a0017 a0020 a0021	a0001c0005 a0002c0002 a0004c0006 others(6): Show a0001c0005 a0002c0002 a0004c0006 a0007c0011 a0009c0035 a0013c0013 a0017c0020 a0020c0022 a0021c0023	a0001c0005t0003 a0001c0005t0024 a0002c0002t0001 others(10): Show a0001c0005t0003 a0001c0005t0024 a0002c0002t0001 a0002c0002t0005 a0002c0002t0007 a0002c0002t0023 a0004c0006t0001 a0007c0011t0003 a0009c0035t0020 a0013c0013t0007 a0017c0020t0003 a0020c0022t0001 a0021c0023t0002	a0001c0005t0003g0026 a0001c0005t0003g0171 a0001c0005t0003g0173 others(29): Show a0001c0005t0003g0026 a0001c0005t0003g0171 a0001c0005t0003g0173 a0001c0005t0003g0179 a0001c0005t0003g0195 a0001c0005t0024g0136 a0002c0002t0001g0032 a0002c0002t0001g0051 a0002c0002t0005g0095 a0002c0002t0005g0123 a0002c0002t0005g0170 a0002c0002t0005g0208 a0002c0002t0005g0224 a0002c0002t0005g0246 a0002c0002t0005g0248 a0002c0002t0005g0252 a0002c0002t0007g0068 a0002c0002t0007g0168 a0002c0002t0007g0183 a0002c0002t0023g0227 a0004c0006t0001g0030 a0004c0006t0001g0103 a0004c0006t0001g0104 a0004c0006t0001g0118 a0004c0006t0001g0155 a0007c0011t0003g0181 a0007c0011t0003g0283 a0009c0035t0020g0016 a0013c0013t0007g0004 a0017c0020t0003g0029 a0020c0022t0001g0281 a0021c0023t0002g0022	33	290	0.1138	-10	c.475 others(27): Show c.475-3195_475-3186delAAAAAAAAAA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	5/22			chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122963501	AAAAGAAA others(3): Show AAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0010 a0004c0008t0010	a0004c0008t0010g0005 a0004c0008t0010g0005	2	290	0.0069	-10	c.-38 others(27): Show c.-38-2210_-38-2201delCTTTTTCTTT	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	1/22			chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122983716	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01515.hp2 HG01884.hp2 others(4): Show HG01192.hp2 HG01515.hp2 HG01884.hp2 HG02717.hp2 HG02735.hp2 HG03209.hp1 HG03688.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0021	a0001c0001 a0003c0003 a0005c0007 others(2): Show a0001c0001 a0003c0003 a0005c0007 a0006c0009 a0021c0023	a0001c0001t0015 a0003c0003t0014 a0005c0007t0008 others(2): Show a0001c0001t0015 a0003c0003t0014 a0005c0007t0008 a0006c0009t0003 a0021c0023t0002	a0001c0001t0015g0007 a0001c0001t0015g0008 a0003c0003t0014g0001 others(3): Show a0001c0001t0015g0007 a0001c0001t0015g0008 a0003c0003t0014g0001 a0005c0007t0008g0047 a0006c0009t0003g0023 a0021c0023t0002g0022	7	290	0.0241	-10	c.-38 others(29): Show c.-38-22425_-38-22416delTTTTTTTTTT	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	1/22			chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122999870	CAGAGAGA others(3): Show CAGAGAGAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp1 NA20300.hp2 HG02109.hp1 HG02809.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0003 a0002c0002t0007 a0002c0002t0011 a0001c0005t0003 a0002c0002t0007 a0002c0002t0011	a0001c0005t0003g0026 a0002c0002t0007g0183 a0002c0002t0011g0182 a0001c0005t0003g0026 a0002c0002t0007g0183 a0002c0002t0011g0182	3	290	0.0103	-10	c.-39 others(29): Show c.-39+27584_-39+27593delTTTTCTCTCT	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	1/22			chr3	TogoVar

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