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
SEC14L1_chr17_77135969_77222101	77216175	A A	AGTAGGTA others(6): Show AGTAGGTAGGGTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0078 a0001c0001t0056g0078	1	430	0.0023	13	c.21 others(24): Show c.2164_*2165insCGTAGGTAGGGTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2165	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216186	T T	TTAGTAGG others(6): Show TTAGTAGGTAGGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0062 a0002c0004t0062	a0002c0004t0062g0177 a0002c0004t0062g0177	1	430	0.0023	13	c.21 others(24): Show c.2189_*2201dupCTAGTAGGTAGGG	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2202	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216266	C C	CGTAGGTA others(6): Show CGTAGGTAGGGTTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0339 a0001c0002t0053g0339	1	430	0.0023	13	c.22 others(24): Show c.2256_*2268dupAGTAGGTAGGGTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2269	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216396	A A	AGTAGGTA others(6): Show AGTAGGTAGGGTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp1 HG02698.hp1 HG01928.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0054 a0001c0001t0008 a0001c0002t0054	a0001c0001t0008g0404 a0001c0002t0054g0375 a0001c0001t0008g0404 a0001c0002t0054g0375	2	430	0.0047	13	c.24 others(24): Show c.2412_*2424dupCGTAGGTAGGGTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2425	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L2_chr22_30392018_30430303	30411742	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00621.hp1 others(29): Show HG00280.hp2 HG00423.hp1 HG00621.hp1 HG00741.hp2 HG01169.hp1 HG01943.hp1 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02273.hp1 HG02486.hp2 HG02630.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03130.hp2 HG03490.hp2 NA18522.hp1 NA18948.hp2 NA18949.hp2 NA18971.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19030.hp2 NA19055.hp1 NA19063.hp2 NA19083.hp1 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021	a0001c0001t0001g0010 a0001c0001t0001g0243 a0001c0001t0001g0262 others(18): Show a0001c0001t0001g0010 a0001c0001t0001g0243 a0001c0001t0001g0262 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0003g0003 a0001c0001t0003g0035 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0003g0161 a0001c0001t0003g0165 a0001c0001t0003g0172 a0001c0001t0003g0236 a0001c0001t0003g0301 a0001c0001t0008g0004 a0001c0001t0008g0201 a0001c0001t0012g0261 a0001c0001t0014g0010 a0001c0001t0014g0257 a0001c0001t0021g0004 a0001c0001t0021g0200	32	420	0.0762	13	c.664 others(30): Show c.664+1070_664+1082dupAAAAAAAAAAAAA	SEC14L2	ENSG00000100003.18	transcript	ENST00000615189.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEC14L2_chr22_30392018_30430303	30411761	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG03195.hp1 others(1): Show HG02258.hp1 HG02559.hp2 HG03195.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0018 a0002c0002t0005g0202 a0002c0002t0005g0018 a0002c0002t0005g0202	4	420	0.0095	13	c.664 others(30): Show c.664+1082_664+1083insAAAAAAAAAAAAG	SEC14L2	ENSG00000100003.18	transcript	ENST00000615189.5	protein_coding	8/11			chr22	TogoVar
SEC14L5_chr16_4953330_5024157	5021852	T T	TTCCAAAT others(6): Show TTCCAAATCTCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0165 a0001c0003t0003g0165	1	376	0.0027	13	c.68 others(24): Show c.6882_*6883insTCCAAATCTCATG	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding		2696		chr16	TogoVar
SEC14L6_chr22_30517799_30551741	30528422	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0006 a0005c0011t0006	a0005c0011t0006g0145 a0005c0011t0006g0145	1	396	0.0025	13	c.664 others(28): Show c.664+652_664+664dupAAAAAAAAAAAAA	SEC14L6	ENSG00000214491.9	transcript	ENST00000402034.7	protein_coding	8/11			chr22	TogoVar
SEC16A_chr9_136435105_136488040	136452449	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG04184.hp2 HG01123.hp2 HG04184.hp2	a0002 a0014 a0002 a0014	a0002c0012 a0014c0036 a0002c0012 a0014c0036	a0002c0012t0003 a0014c0036t0003 a0002c0012t0003 a0014c0036t0003	a0002c0012t0003g0243 a0014c0036t0003g0233 a0002c0012t0003g0243 a0014c0036t0003g0233	2	306	0.0065	13	c.615 others(30): Show c.6159+966_6159+978dupTTTTTTTTTTTTT	SEC16A	ENSG00000148396.19	transcript	ENST00000684901.1	protein_coding	22/31			chr9	TogoVar
SEC22A_chr3_123196943_123279136	123271887	G G	GACCTGCT others(6): Show GACCTGCTAGGAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(60): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02886.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03516.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18747.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18967.hp2 NA18981.hp2 NA18991.hp2 NA19007.hp2 NA19030.hp1 NA19055.hp2 NA19080.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0020 others(1): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021	a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 others(57): Show a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0202 a0001c0001t0014g0018 a0001c0001t0020g0053 a0001c0001t0021g0014	63	340	0.1853	13	c.16 others(22): Show c.166_*167insCCTGCTAGGAAAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	7/7	167	INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22C_chr3_42542969_42586967	42545494	G G	GAAACTGC others(6): Show GAAACTGCTGGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0059 a0001c0003t0029g0059	1	394	0.0025	13	c.77 others(24): Show c.7753_*7754insTGACCAGCAGTTT	SEC22C	ENSG00000093183.14	transcript	ENST00000264454.8	protein_coding		2474		chr3	TogoVar
SEC23A_chr14_39026919_39108235	39065997	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01256.hp1 HG01943.hp2 others(2): Show HG01074.hp1 HG01256.hp1 HG01943.hp2 HG02293.hp2 HG03927.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0012 a0002c0002 a0003c0012	a0002c0002t0001 a0003c0012t0001 a0002c0002t0001 a0003c0012t0001	a0002c0002t0001g0311 a0002c0002t0001g0319 a0002c0002t0001g0321 others(2): Show a0002c0002t0001g0311 a0002c0002t0001g0319 a0002c0002t0001g0321 a0002c0002t0001g0326 a0003c0012t0001g0334	5	366	0.0137	13	c.122 others(32): Show c.1228-1017_1228-1005dupTTTTTTTTTTTTT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	10/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39083563	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03225.hp1 HG02055.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0005 a0002c0002t0004g0205 a0002c0002t0001g0005 a0002c0002t0004g0205	2	366	0.0055	13	c.828 others(30): Show c.828+2186_828+2198dupAAAAAAAAAAAAA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	7/19			chr14	TogoVar
SEC24B_chr4_109428815_109545896	109439116	T T	TCAAAGTT others(6): Show TCAAAGTTAAAGGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	222	0.0045	13	c.133 others(30): Show c.133+5114_133+5115insCAAAGTTAAAGGG	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	1/23			chr4	TogoVar
SEC24C_chr10_73739372_73777161	73763667	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19078.hp1 HG02074.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0001g0187 a0001c0001t0001g0224	2	322	0.0062	13	c.109 others(28): Show c.1099+86_1099+98dupTTTTTTTTTTTTT	SEC24C	ENSG00000176986.16	transcript	ENST00000345254.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
SEC24D_chr4_118717823_118841126	118810137	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	300	0.0033	13	c.802 others(30): Show c.802-4184_802-4183insCACACACACACAC	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	6/22			chr4	TogoVar
SEC61A1_chr3_128047437_128076683	128062870	T T	TAGGGGGT others(6): Show TAGGGGGTTTGGAG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	382	0.0026	13	c.617 others(30): Show c.617-2007_617-2006insAGGGGGTTTGGAG	SEC61A1	ENSG00000058262.11	transcript	ENST00000243253.8	protein_coding	7/11			chr3	TogoVar
SEC61A2_chr10_12124677_12170407	12127557	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 NA18961.hp1 HG03704.hp2 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0240 a0001c0002t0001g0036 a0001c0002t0001g0240	2	360	0.0056	13	c.-22 others(24): Show c.-2231_-2230insCCCCCCCCCCCCC	SEC61A2	ENSG00000065665.21	transcript	ENST00000298428.14	protein_coding		2119		chr10	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00738.hp1 others(21): Show HG00544.hp2 HG00621.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01884.hp1 HG02976.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG04115.hp1 NA18952.hp1 NA18953.hp1 NA18965.hp1 NA18971.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp2 NA19007.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	24	406	0.0591	13	c.-18 others(24): Show c.-1849_-1848insTTTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SEC63_chr6_107862756_107963208	107956407	A A	AGCATTAA others(6): Show AGCATTAAGACTTC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	332	0.0030	13	c.124 others(30): Show c.124+1466_124+1478dupGAAGTCTTAATGC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SECISBP2L_chr15_48983638_49051446	49002806	G G	GTCTATGT others(6): Show GTCTATGTATCTGT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	378	0.0027	13	c.202 others(32): Show c.2028-1722_2028-1710dupACAGATACATAGA	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	14/17			chr15	TogoVar
SECISBP2_chr9_89313500_89364663	89336081	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0271 a0001c0001t0008g0271	1	380	0.0026	13	c.108 others(32): Show c.1089+1366_1089+1378dupTTTTTTTTTTTTT	SECISBP2	ENSG00000187742.15	transcript	ENST00000375807.8	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
SEH1L_chr18_12943011_12992531	12962459	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG03710.hp2 others(1): Show HG00423.hp1 HG00558.hp1 HG03710.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0057 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0058	4	388	0.0103	13	c.310 others(28): Show c.310-687_310-675dupTTTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12981850	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02257.hp2 HG02486.hp2 others(6): Show HG01952.hp2 HG02257.hp2 HG02486.hp2 HG02615.hp2 HG02647.hp1 HG02896.hp2 HG03139.hp1 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0007 a0001c0001t0002g0337 a0001c0001t0002g0339 others(6): Show a0001c0001t0002g0007 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0004g0312 a0001c0001t0004g0322	9	388	0.0232	13	c.762 others(28): Show c.762-653_762-641dupTTTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEL1L2_chr20_13844247_13995614	13907742	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp1 HG02280.hp2 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0005c0007t0001 a0001c0001t0002 a0005c0007t0001	a0001c0001t0002g0059 a0005c0007t0001g0303 a0001c0001t0002g0059 a0005c0007t0001g0303	2	324	0.0062	13	c.549 others(30): Show c.549+6039_549+6040insAGAAAGAAAGAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	5/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(6): Show TATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19082.hp2 HG02155.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0152 a0001c0001t0001g0153	2	324	0.0062	13	c.115 others(30): Show c.115-2632_115-2620dupGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02735.hp1 NA19001.hp2 others(1): Show HG02698.hp1 HG02735.hp1 NA19001.hp2 NA19002.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0177 a0001c0001t0001g0178 a0004c0006t0001g0085 others(1): Show a0001c0001t0001g0177 a0001c0001t0001g0178 a0004c0006t0001g0085 a0004c0006t0001g0086	4	324	0.0124	13	c.58+ others(28): Show c.58+7441_58+7453dupTTTTTTTTTTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25744348	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02976.hp2 HG03139.hp1 HG02559.hp1 HG02976.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0036 a0002c0002 a0001c0001 a0001c0036 a0002c0002	a0001c0001t0002 a0001c0036t0002 a0002c0002t0002 a0001c0001t0002 a0001c0036t0002 a0002c0002t0002	a0001c0001t0002g0259 a0001c0036t0002g0137 a0002c0002t0002g0281 a0001c0001t0002g0259 a0001c0036t0002g0137 a0002c0002t0002g0281	3	312	0.0096	13	c.40 others(24): Show c.4076_*4077insAAAAAAAAAAAAA	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		3084		chr4	TogoVar
SELENBP1_chr1_151359304_151377705	151367344	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	438	0.0023	13	c.482 others(28): Show c.482-453_482-441dupTTTTTTTTTTTTT	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding	5/11			chr1	TogoVar
SELENOI_chr2_26341143_26400885	26381198	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG03225.hp2 others(1): Show HG02280.hp2 HG02723.hp1 HG03225.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015	a0001c0001t0005g0255 a0001c0001t0006g0252 a0001c0001t0006g0258 others(1): Show a0001c0001t0005g0255 a0001c0001t0006g0252 a0001c0001t0006g0258 a0001c0001t0015g0256	4	334	0.0120	13	c.683 others(30): Show c.683-2082_683-2070dupTTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENOK_chr3_53879417_53896859	53894212	A A	AATTATAT others(6): Show AATTATATAGTTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00735.hp2 others(63): Show HG00323.hp1 HG00558.hp2 HG00735.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01496.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG02040.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG03139.hp2 HG03225.hp1 HG03491.hp1 HG03516.hp2 HG03669.hp1 HG03710.hp1 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18953.hp2 NA18956.hp1 NA18960.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA19005.hp1 NA19009.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19076.hp2 NA19083.hp2 NA19085.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0003 a0001c0001t0004g0022 a0001c0001t0004g0035 others(3): Show a0001c0001t0004g0003 a0001c0001t0004g0022 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0042 a0001c0001t0007g0011	66	422	0.1564	13	c.-24 others(24): Show c.-2425_-2424insCTAACTATATAAT	SELENOK	ENSG00000113811.12	transcript	ENST00000495461.6	protein_coding		2354		chr3	TogoVar
SELENOM_chr22_31099777_31112568	31101809	T T	TGACCTTC others(6): Show TGACCTTCCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01175.hp1 HG00733.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	2	378	0.0053	13	c.31 others(24): Show c.3160_*3161insCAGGAGGAAGGTC	SELENOM	ENSG00000198832.11	transcript	ENST00000400299.6	protein_coding		2967		chr22	TogoVar
SELENOM_chr22_31099777_31112568	31107588	G G	GCCCCCGC others(6): Show GCCCCCGCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	13	c.-96 others(20): Show c.-96_-84dupGCGGGGGCGGGGG	SELENOM	ENSG00000198832.11	transcript	ENST00000400299.6	protein_coding		21		chr22	TogoVar
SELENOO_chr22_50196011_50222616	50202217	A A	AAAACAAT others(6): Show AAAACAATACCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(228): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(11): Show a0001 a0003 a0004 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0006 a0001c0007 others(16): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0023 a0003c0003 a0004c0004 a0007c0010 a0008c0021 a0009c0016 a0011c0019 a0012c0022 a0013c0018 a0014c0027 a0015c0026 a0016c0028 a0017c0014 a0018c0025	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 others(17): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0023t0001 a0003c0003t0001 a0003c0003t0003 a0004c0004t0001 a0007c0010t0001 a0008c0021t0001 a0009c0016t0001 a0011c0019t0001 a0012c0022t0001 a0013c0018t0001 a0014c0027t0001 a0015c0026t0001 a0016c0028t0001 a0017c0014t0001 a0018c0025t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(137): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0006t0001g0134 a0001c0006t0001g0135 a0001c0006t0001g0136 a0001c0007t0001g0029 a0001c0007t0001g0119 a0001c0008t0001g0031 a0001c0011t0001g0012 a0001c0023t0001g0130 a0003c0003t0001g0006 a0003c0003t0001g0028 a0003c0003t0001g0070 a0003c0003t0003g0006 a0003c0003t0003g0028 a0003c0003t0003g0050 a0003c0003t0003g0099 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0143 a0004c0004t0001g0147 a0004c0004t0001g0148 a0004c0004t0001g0150 a0004c0004t0001g0151 a0007c0010t0001g0110 a0007c0010t0001g0111 a0008c0021t0001g0016 a0009c0016t0001g0008 a0011c0019t0001g0125 a0012c0022t0001g0019 a0013c0018t0001g0018 a0014c0027t0001g0016 a0015c0026t0001g0131 a0016c0028t0001g0088 a0017c0014t0001g0004 a0018c0025t0001g0017	231	438	0.5274	13	c.554 others(28): Show c.554+629_554+630insACAATACCCACAA	SELENOO	ENSG00000073169.15	transcript	ENST00000380903.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 NA18906.hp2 NA19009.hp2 others(1): Show HG01243.hp1 NA18906.hp2 NA19009.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0004g0035 others(1): Show a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0004g0035 a0001c0001t0004g0147	4	380	0.0105	13	c.35 others(24): Show c.3573_*3574insAAAAAAAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SELENOV_chr19_39510139_39525675	39517964	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG03225.hp1 others(1): Show HG01884.hp2 HG02630.hp2 HG03225.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0002 a0001c0001t0001 a0001c0008t0002	a0001c0001t0001g0126 a0001c0001t0001g0200 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0008t0002g0127	4	436	0.0092	13	c.810 others(28): Show c.810-629_810-617dupAAAAAAAAAAAAA	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SELENOV_chr19_39510139_39525675	39517991	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp2 HG03098.hp2 others(1): Show HG02622.hp1 HG02896.hp2 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0053 a0001c0002t0001g0211 a0001c0002t0001g0212	4	436	0.0092	13	c.810 others(28): Show c.810-617_810-616insAAAAAAAAAAAAG	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5			chr19	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0139 a0001c0005t0010g0139	1	276	0.0036	13	c.171 others(32): Show c.1718-2320_1718-2319insATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 NA18951.hp2 others(3): Show HG00621.hp1 HG00621.hp2 NA18951.hp2 NA18973.hp1 NA19076.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 a0001c0001t0001 a0001c0001t0003 a0001c0005t0003	a0001c0001t0001g0106 a0001c0001t0001g0167 a0001c0001t0003g0054 others(3): Show a0001c0001t0001g0106 a0001c0001t0001g0167 a0001c0001t0003g0054 a0001c0001t0003g0102 a0001c0001t0003g0124 a0001c0005t0003g0141	6	276	0.0217	13	c.171 others(32): Show c.1718-2320_1718-2319insAAATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18945.hp1 NA18981.hp1 HG01981.hp1 NA18945.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0098 a0001c0001t0003g0127 a0001c0001t0003g0053 a0001c0001t0003g0098 a0001c0001t0003g0127	3	276	0.0109	13	c.171 others(32): Show c.1718-2320_1718-2319insAAAAATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp2 NA18952.hp1 HG02071.hp1 HG02071.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0027 a0001c0005t0001 a0001c0001t0001 a0001c0001t0027 a0001c0005t0001	a0001c0001t0001g0182 a0001c0001t0027g0272 a0001c0005t0001g0140 a0001c0001t0001g0182 a0001c0001t0027g0272 a0001c0005t0001g0140	3	276	0.0109	13	c.171 others(32): Show c.1718-2320_1718-2319insAAAAAAATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	276	0.0036	13	c.171 others(32): Show c.1718-2320_1718-2319insAAAAAAAAATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965667	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0180 a0001c0001t0010g0180	1	276	0.0036	13	c.171 others(32): Show c.1718-2321_1718-2320insTATATATATATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3B_chr3_50264147_50282546	50272855	A A	ATAATAAT others(6): Show ATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	390	0.0026	13	c.665 others(28): Show c.665-443_665-442insTAATAATAATAAT	SEMA3B	ENSG00000012171.20	transcript	ENST00000616701.5	protein_coding	6/16			chr3	TogoVar
SEMA3C_chr7_80737538_80924051	80815554	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18965.hp2 NA18966.hp2 others(3): Show HG02080.hp2 NA18965.hp2 NA18966.hp2 NA19007.hp1 NA19063.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0001t0001 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0085 a0001c0001t0001g0218 a0001c0001t0001g0222 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0002t0001g0070 a0001c0002t0001g0081 a0001c0003t0002g0021	6	244	0.0246	13	c.447 others(30): Show c.447+2732_447+2744dupTTTTTTTTTTTTT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	5/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80819224	A A	ATTATTCC others(6): Show ATTATTCCACTGAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01257.hp2 HG01258.hp1 others(8): Show HG00280.hp1 HG01257.hp2 HG01258.hp1 HG02280.hp1 HG02622.hp2 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG04228.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0009 others(2): Show a0001c0002 a0001c0007 a0001c0009 a0001c0012 a0001c0017	a0001c0002t0001 a0001c0007t0005 a0001c0009t0001 others(3): Show a0001c0002t0001 a0001c0007t0005 a0001c0009t0001 a0001c0009t0007 a0001c0012t0001 a0001c0017t0003	a0001c0002t0001g0062 a0001c0002t0001g0080 a0001c0007t0005g0064 others(8): Show a0001c0002t0001g0062 a0001c0002t0001g0080 a0001c0007t0005g0064 a0001c0009t0001g0004 a0001c0009t0007g0005 a0001c0009t0007g0006 a0001c0012t0001g0039 a0001c0012t0001g0040 a0001c0012t0001g0132 a0001c0012t0001g0194 a0001c0017t0003g0093	11	244	0.0451	13	c.328 others(28): Show c.328-807_328-806insATCAGTGGAATAA	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	4/17			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83456622	A A	ATTTATTT others(6): Show ATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00597.hp2 others(53): Show HG00408.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01261.hp2 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp2 HG02257.hp1 HG02523.hp2 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03942.hp1 HG04204.hp1 NA18939.hp1 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18984.hp1 NA18995.hp1 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19074.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0015 a0002c0004 a0004c0016	a0001c0001t0017 a0001c0001t0022 a0001c0001t0063 others(28): Show a0001c0001t0017 a0001c0001t0022 a0001c0001t0063 a0001c0001t0075 a0001c0001t0088 a0001c0001t0097 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0014 a0001c0002t0016 a0001c0002t0044 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010 a0001c0003t0016 a0001c0003t0020 a0001c0003t0027 a0001c0003t0033 a0001c0003t0079 a0001c0003t0081 a0001c0005t0021 a0001c0006t0082 a0001c0010t0059 a0001c0010t0060 a0001c0015t0005 a0002c0004t0012 a0002c0004t0090 a0002c0004t0101 a0004c0016t0005	a0001c0001t0017g0012 a0001c0001t0022g0199 a0001c0001t0022g0200 others(53): Show a0001c0001t0017g0012 a0001c0001t0022g0199 a0001c0001t0022g0200 a0001c0001t0063g0065 a0001c0001t0075g0148 a0001c0001t0088g0173 a0001c0001t0097g0226 a0001c0002t0001g0093 a0001c0002t0001g0098 a0001c0002t0001g0102 a0001c0002t0003g0106 a0001c0002t0008g0089 a0001c0002t0014g0087 a0001c0002t0014g0120 a0001c0002t0016g0218 a0001c0002t0044g0013 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0082 a0001c0003t0001g0084 a0001c0003t0001g0099 a0001c0003t0001g0114 a0001c0003t0001g0117 a0001c0003t0001g0140 a0001c0003t0001g0146 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0002g0078 a0001c0003t0002g0080 a0001c0003t0002g0096 a0001c0003t0002g0112 a0001c0003t0002g0152 a0001c0003t0004g0193 a0001c0003t0004g0194 a0001c0003t0004g0195 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0003t0004g0198 a0001c0003t0010g0208 a0001c0003t0010g0222 a0001c0003t0016g0204 a0001c0003t0016g0210 a0001c0003t0020g0075 a0001c0003t0027g0025 a0001c0003t0033g0184 a0001c0003t0079g0076 a0001c0003t0081g0129 a0001c0005t0021g0074 a0001c0006t0082g0167 a0001c0010t0059g0059 a0001c0010t0060g0061 a0001c0015t0005g0027 a0002c0004t0012g0039 a0002c0004t0090g0176 a0002c0004t0101g0221 a0004c0016t0005g0022	56	226	0.2478	13	c.456 others(30): Show c.456+9859_456+9860insATAAATAAATAAA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83464458	T T	TGTTTACA others(6): Show TGTTTACACTGCCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(108): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp1 NA18939.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19077.hp1 NA19240.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0015 a0002c0012 a0004c0016	a0001c0001t0017 a0001c0001t0029 a0001c0001t0051 others(51): Show a0001c0001t0017 a0001c0001t0029 a0001c0001t0051 a0001c0001t0052 a0001c0001t0063 a0001c0001t0097 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0016 a0001c0002t0026 a0001c0002t0027 a0001c0002t0032 a0001c0002t0034 a0001c0002t0040 a0001c0002t0044 a0001c0002t0045 a0001c0002t0050 a0001c0002t0057 a0001c0002t0069 a0001c0002t0071 a0001c0002t0072 a0001c0002t0073 a0001c0002t0080 a0001c0002t0083 a0001c0002t0084 a0001c0002t0095 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010 a0001c0003t0016 a0001c0003t0020 a0001c0003t0027 a0001c0003t0033 a0001c0003t0048 a0001c0003t0079 a0001c0003t0081 a0001c0003t0099 a0001c0005t0006 a0001c0005t0015 a0001c0005t0021 a0001c0005t0062 a0001c0005t0086 a0001c0005t0087 a0001c0011t0033 a0001c0015t0005 a0002c0012t0068 a0004c0016t0005	a0001c0001t0017g0012 a0001c0001t0029g0113 a0001c0001t0029g0172 others(108): Show a0001c0001t0017g0012 a0001c0001t0029g0113 a0001c0001t0029g0172 a0001c0001t0051g0046 a0001c0001t0052g0050 a0001c0001t0063g0065 a0001c0001t0097g0226 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0123 a0001c0002t0001g0159 a0001c0002t0002g0103 a0001c0002t0002g0122 a0001c0002t0003g0106 a0001c0002t0005g0021 a0001c0002t0005g0030 a0001c0002t0008g0089 a0001c0002t0008g0110 a0001c0002t0008g0115 a0001c0002t0008g0119 a0001c0002t0010g0207 a0001c0002t0011g0017 a0001c0002t0011g0018 a0001c0002t0011g0024 a0001c0002t0011g0038 a0001c0002t0014g0087 a0001c0002t0014g0120 a0001c0002t0014g0125 a0001c0002t0016g0216 a0001c0002t0016g0218 a0001c0002t0026g0019 a0001c0002t0026g0035 a0001c0002t0027g0014 a0001c0002t0032g0188 a0001c0002t0034g0213 a0001c0002t0034g0224 a0001c0002t0040g0008 a0001c0002t0044g0013 a0001c0002t0045g0026 a0001c0002t0050g0020 a0001c0002t0057g0053 a0001c0002t0069g0072 a0001c0002t0071g0107 a0001c0002t0072g0083 a0001c0002t0073g0127 a0001c0002t0080g0094 a0001c0002t0083g0116 a0001c0002t0084g0161 a0001c0002t0095g0217 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0099 a0001c0003t0001g0108 a0001c0003t0001g0114 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0124 a0001c0003t0001g0140 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0002g0078 a0001c0003t0002g0080 a0001c0003t0002g0086 a0001c0003t0002g0096 a0001c0003t0002g0112 a0001c0003t0002g0128 a0001c0003t0002g0145 a0001c0003t0002g0152 a0001c0003t0002g0155 a0001c0003t0004g0193 a0001c0003t0004g0194 a0001c0003t0004g0195 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0003t0004g0198 a0001c0003t0010g0208 a0001c0003t0010g0222 a0001c0003t0016g0204 a0001c0003t0016g0210 a0001c0003t0020g0075 a0001c0003t0020g0081 a0001c0003t0020g0121 a0001c0003t0027g0025 a0001c0003t0033g0184 a0001c0003t0048g0031 a0001c0003t0079g0076 a0001c0003t0081g0129 a0001c0003t0099g0203 a0001c0005t0006g0043 a0001c0005t0006g0044 a0001c0005t0006g0045 a0001c0005t0006g0048 a0001c0005t0006g0049 a0001c0005t0015g0180 a0001c0005t0021g0074 a0001c0005t0021g0101 a0001c0005t0062g0063 a0001c0005t0086g0154 a0001c0005t0087g0156 a0001c0011t0033g0190 a0001c0015t0005g0027 a0002c0012t0068g0068 a0004c0016t0005g0022	111	226	0.4912	13	c.456 others(30): Show c.456+2023_456+2024insCGGCAGTGTAAAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83464458	T T	TGTTTACC others(6): Show TGTTTACCCTGCCG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG06807.hp2 NA18522.hp1 HG03041.hp2 HG06807.hp2 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0168 a0002c0004t0018g0169 a0002c0004t0018g0171 a0002c0004t0018g0168 a0002c0004t0018g0169 a0002c0004t0018g0171	3	226	0.0133	13	c.456 others(30): Show c.456+2023_456+2024insCGGCAGGGTAAAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83539896	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01978.hp2 HG03704.hp2 HG01168.hp2 HG01978.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0027 a0001c0002t0002 a0001c0002t0011 a0001c0002t0027	a0001c0002t0002g0103 a0001c0002t0011g0038 a0001c0002t0027g0014 a0001c0002t0002g0103 a0001c0002t0011g0038 a0001c0002t0027g0014	3	226	0.0133	13	c.116 others(32): Show c.116-49623_116-49622insCACACACACACAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar

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