Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEC23A_chr14_39026919_39108235	39065997	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(65): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01257.hp1 HG01433.hp1 HG01496.hp1 HG01975.hp1 HG02056.hp2 HG02155.hp1 HG02293.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18948.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18990.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19058.hp2 NA19064.hp1 NA19068.hp2 NA19090.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0024 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0004g0011 a0001c0001t0004g0155 a0001c0005t0001g0143 a0002c0002t0001g0313	68	366	0.1858	-17	c.122 others(36): Show c.1228-1021_1228-1005delTTTTTTTTTTTTTTTTT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	10/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39092847	ATTTGTTT others(10): Show ATTTGTTTGTTTGTTTGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02886.hp1 others(3): Show HG02630.hp2 HG02647.hp1 HG02886.hp1 HG03041.hp2 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 others(3): Show a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0350 a0001c0001t0001g0351	6	366	0.0164	-17	c.280 others(32): Show c.280-237_280-221delACAAACAAACAAACAAA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	3/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094425	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	366	0.0027	-17	c.222 others(34): Show c.222-1198_222-1182delTATATATATATATATAT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094426	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01257.hp1 NA18966.hp2 others(2): Show HG00642.hp2 HG01257.hp1 NA18966.hp2 NA18995.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 others(2): Show a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140	5	366	0.0137	-17	c.222 others(34): Show c.222-1199_222-1183delATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094428	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	366	0.0027	-17	c.222 others(34): Show c.222-1201_222-1185delAAATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094430	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	366	0.0027	-17	c.222 others(34): Show c.222-1203_222-1187delAAAAATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094432	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG03098.hp1 others(1): Show HG02630.hp2 HG02647.hp1 HG03098.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0295 a0001c0001t0001g0350 others(1): Show a0001c0001t0001g0286 a0001c0001t0001g0295 a0001c0001t0001g0350 a0001c0001t0001g0351	4	366	0.0109	-17	c.222 others(34): Show c.222-1205_222-1189delAAAAAAATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC24B_chr4_109428815_109545896	109439474	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01255.hp1 others(15): Show HG00642.hp2 HG00735.hp1 HG01255.hp1 HG01258.hp2 HG01361.hp1 HG02647.hp1 HG03195.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03834.hp2 HG04115.hp2 NA18948.hp2 NA18960.hp2 NA18979.hp2 NA19240.hp1 NA20752.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0002 a0004c0007 others(1): Show a0001c0001 a0001c0002 a0004c0007 a0009c0013	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0015 a0004c0007t0003 a0009c0013t0003	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0217 others(15): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0217 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0110 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0099 a0001c0002t0004g0100 a0001c0002t0004g0101 a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0004g0104 a0001c0002t0015g0098 a0004c0007t0003g0214 a0004c0007t0003g0215 a0009c0013t0003g0213	18	222	0.0811	-17	c.133 others(34): Show c.133+5501_133+5517delTTTTTTTTTTTTTTTTT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC31A_chr4_82813509_82896153	82837182	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0228	1	328	0.0031	-17	c.296 others(36): Show c.2968+4941_2968+4957delTATATATATATATATAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SECISBP2L_chr15_48983638_49051446	49035283	ACTAATAT others(10): Show ACTAATATAAGTAATATC	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18951.hp1 NA18962.hp2 others(3): Show NA18947.hp1 NA18951.hp1 NA18962.hp2 NA18981.hp2 NA18990.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0239 a0001c0001t0001g0240 others(3): Show a0001c0001t0001g0220 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243	6	378	0.0159	-17	c.528 others(30): Show c.528+34_528+50delGATATTACTTATATTAG	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	3/17			chr15	TogoVar
SEL1L2_chr20_13844247_13995614	13972612	ATGAAAAT others(10): Show ATGAAAATGTCTCATGTT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	324	0.0031	-17	c.59- others(34): Show c.59-16498_59-16482delAACATGAGACATTTTCA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SEL1L_chr14_81466547_81538853	81469285	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03041.hp1 HG03453.hp1 others(2): Show HG02615.hp1 HG03041.hp1 HG03453.hp1 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0041 a0001c0002t0005 a0001c0002t0041	a0001c0002t0005g0002 a0001c0002t0005g0103 a0001c0002t0041g0326 a0001c0002t0005g0002 a0001c0002t0005g0103 a0001c0002t0041g0326	5	360	0.0139	-17	c.76 others(28): Show c.7670_*7686delAAAAAAAAAAAAAAAAA	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding		2261		chr14	TogoVar
SELENOI_chr2_26341143_26400885	26371844	GACCATGG others(10): Show GACCATGGGGAGAGGGAA	G G	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	334	0.0030	-17	c.311 others(34): Show c.311-1506_311-1490delAACCATGGGGAGAGGGA	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENOI_chr2_26341143_26400885	26371861	AACCATGG others(10): Show AACCATGGGGAGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp2 HG02809.hp1 others(2): Show HG02486.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0106 a0001c0001t0006g0005 a0001c0001t0006g0106	5	334	0.0150	-17	c.311 others(34): Show c.311-1487_311-1471delCCATGGGGAGAGGGAGA	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENOI_chr2_26341143_26400885	26398037	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	334	0.0030	-17	c.89 others(28): Show c.8935_*8951delTTTTTTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding		2153		chr2	TogoVar
SELENOV_chr19_39510139_39525675	39510557	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00597.hp1 others(19): Show HG00280.hp1 HG00423.hp2 HG00597.hp1 HG02074.hp2 HG02165.hp1 HG02717.hp1 HG02976.hp2 HG03139.hp1 NA18943.hp1 NA18949.hp1 NA18963.hp2 NA18971.hp2 NA18973.hp1 NA18981.hp2 NA18984.hp1 NA18989.hp2 NA18999.hp1 NA19001.hp1 NA19005.hp2 NA19054.hp1 NA19070.hp1 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0014 a0001c0003t0001g0016 others(13): Show a0001c0003t0001g0002 a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0019 a0001c0003t0001g0025 a0001c0003t0001g0042 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0139 a0001c0003t0001g0147 a0001c0003t0001g0165 a0001c0003t0001g0203 a0001c0003t0001g0205	22	436	0.0505	-17	c.-46 others(28): Show c.-4655_-4639delTTTTTTTTTTTTTTTTT	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding		4581		chr19	TogoVar
SELENOV_chr19_39510139_39525675	39516331	TCCCCAGC others(10): Show TCCCCAGCAAGACCAACC	T T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	436	0.0023	-17	c.809 others(32): Show c.809+312_809+328delCCCAGCAAGACCAACCC	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SELPLG_chr12_108616895_108638894	108625244	TCCTATCT others(10): Show TCCTATCTTGCTTCCACC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	486	0.0021	-17	c.-5- others(30): Show c.-5-949_-5-933delGGTGGAAGCAAGATAGG	SELPLG	ENSG00000110876.10	transcript	ENST00000550948.2	protein_coding	1/1			chr12	TogoVar
SEMA3A_chr7_83950777_84199789	83965649	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03942.hp2 NA20129.hp1 HG02572.hp1 HG03942.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0001t0025 a0001c0005t0004 a0001c0001t0004 a0001c0001t0025 a0001c0005t0004	a0001c0001t0004g0216 a0001c0001t0025g0015 a0001c0005t0004g0006 a0001c0001t0004g0216 a0001c0001t0025g0015 a0001c0005t0004g0006	3	276	0.0109	-17	c.171 others(36): Show c.1718-2319_1718-2303delTATATATATATATATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965650	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02165.hp2 others(3): Show HG01167.hp2 HG01169.hp1 HG02165.hp2 HG03491.hp1 HG03492.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0022 a0001c0001t0004 a0001c0001t0022	a0001c0001t0004g0059 a0001c0001t0004g0094 a0001c0001t0004g0108 others(3): Show a0001c0001t0004g0059 a0001c0001t0004g0094 a0001c0001t0004g0108 a0001c0001t0004g0133 a0001c0001t0004g0224 a0001c0001t0022g0225	6	276	0.0217	-17	c.171 others(36): Show c.1718-2320_1718-2304delATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965654	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	276	0.0036	-17	c.171 others(36): Show c.1718-2324_1718-2308delAAAAATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80852257	ACTTGTAG others(10): Show ACTTGTAGCAGCTTCAAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp1 others(21): Show HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG02040.hp2 NA18942.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18972.hp1 NA18984.hp2 NA18990.hp1 NA18994.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19074.hp1 NA19079.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0013t0002 a0002c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0060 others(21): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0227 a0001c0002t0001g0041 a0001c0002t0001g0059 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0160 a0001c0003t0002g0001 a0001c0003t0002g0002 a0001c0003t0002g0007 a0001c0013t0002g0083 a0002c0005t0001g0071 a0002c0005t0001g0077	24	244	0.0984	-17	c.104 others(36): Show c.104-23529_104-23513delGTTGAAGCTGCTACAAG	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85168821	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0086 a0002c0002t0003g0086	1	266	0.0038	-17	c.-17 others(38): Show c.-172-15099_-172-15083delTCTTTCTTTCTTTCTTT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	1/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83363859	CATTTTTT others(10): Show CATTTTTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG02896.hp2 others(1): Show HG01884.hp1 HG02630.hp1 HG02896.hp2 NA18906.hp1	a0003 a0003	a0003c0007 a0003c0009 a0003c0007 a0003c0009	a0003c0007t0025 a0003c0007t0036 a0003c0009t0066 a0003c0007t0025 a0003c0007t0036 a0003c0009t0066	a0003c0007t0025g0029 a0003c0007t0025g0037 a0003c0007t0036g0007 others(1): Show a0003c0007t0025g0029 a0003c0007t0025g0037 a0003c0007t0036g0007 a0003c0009t0066g0067	4	226	0.0177	-17	c.37 others(28): Show c.3710_*3726delAAAAAAAAAAAAAAAAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	17/17	3710		chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83363860	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02809.hp1 others(4): Show HG01243.hp1 HG02451.hp2 HG02809.hp1 HG02818.hp1 HG03209.hp1 HG03540.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0008 a0001c0010 others(1): Show a0001c0006 a0001c0008 a0001c0010 a0002c0004	a0001c0006t0047 a0001c0006t0053 a0001c0006t0055 others(4): Show a0001c0006t0047 a0001c0006t0053 a0001c0006t0055 a0001c0006t0094 a0001c0008t0054 a0001c0010t0059 a0002c0004t0091	a0001c0006t0047g0040 a0001c0006t0053g0047 a0001c0006t0055g0056 others(4): Show a0001c0006t0047g0040 a0001c0006t0053g0047 a0001c0006t0055g0056 a0001c0006t0094g0174 a0001c0008t0054g0051 a0001c0010t0059g0059 a0002c0004t0091g0189	7	226	0.0310	-17	c.37 others(28): Show c.3709_*3725delAAAAAAAAAAAAAAAAA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	17/17	3709		chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83600486	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0043 a0001c0006t0043	a0001c0006t0043g0011 a0001c0006t0043g0011	1	226	0.0044	-17	c.115 others(36): Show c.115+47925_115+47941delAAAAAAAAAAAAAAAAA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89372393	GGGGGTGT others(10): Show GGGGGTGTGTGTGTGTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02717.hp2 HG01884.hp2 HG02559.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0030 a0001c0004t0004g0083 a0001c0004t0004g0084 a0001c0004t0004g0030 a0001c0004t0004g0083 a0001c0004t0004g0084	3	370	0.0081	-17	c.62 others(28): Show c.6294_*6310delAGACACACACACACCCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding		4841		chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89423939	TACTCCCT others(10): Show TACTCCCTCAGCACCTCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	370	0.0027	-17	c.-24 others(38): Show c.-243-18257_-243-18241delGGAGGTGCTGAGGGAGT	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89438964	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG01261.hp2 others(5): Show HG00642.hp1 HG01106.hp1 HG01261.hp2 HG01346.hp1 HG03017.hp1 HG03239.hp1 HG03704.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0093 a0001c0001t0003g0098 others(5): Show a0001c0001t0003g0013 a0001c0001t0003g0093 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0106 a0001c0001t0003g0130 a0001c0001t0003g0213 a0001c0001t0003g0273	8	370	0.0216	-17	c.-24 others(38): Show c.-244+16907_-244+16923delAAAAAAAAAAAAAAAAA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9123258	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01123.hp2 others(16): Show HG00639.hp1 HG00735.hp1 HG01123.hp2 HG01884.hp2 HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02818.hp1 HG02818.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0016	a0001c0001t0001 a0001c0001t0016 a0001c0001t0017 others(16): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0032 a0001c0001t0035 a0001c0001t0039 a0001c0001t0056 a0001c0001t0067 a0001c0001t0077 a0001c0003t0012 a0001c0003t0080 a0001c0004t0001 a0001c0005t0001 a0001c0005t0007 a0001c0008t0027 a0001c0011t0037 a0001c0016t0038	a0001c0001t0001g0038 a0001c0001t0016g0090 a0001c0001t0017g0091 others(16): Show a0001c0001t0001g0038 a0001c0001t0016g0090 a0001c0001t0017g0091 a0001c0001t0018g0098 a0001c0001t0019g0118 a0001c0001t0032g0067 a0001c0001t0035g0059 a0001c0001t0039g0072 a0001c0001t0056g0096 a0001c0001t0067g0128 a0001c0001t0077g0101 a0001c0003t0012g0068 a0001c0003t0080g0132 a0001c0004t0001g0030 a0001c0005t0001g0005 a0001c0005t0007g0082 a0001c0008t0027g0035 a0001c0011t0037g0065 a0001c0016t0038g0037	19	134	0.1418	-17	c.160 others(34): Show c.1600-438_1600-422delTTTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116532687	ACTCTTTT others(10): Show ACTCTTTTCCCTTCCCTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	304	0.0033	-17	c.-38 others(36): Show c.-38-27722_-38-27706delAAGGGAAGGGAAAAGAG	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SENP3_chr17_7556919_7576969	7571836	TTTATATA others(10): Show TTTATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 NA18612.hp1 HG02735.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0006 a0001c0001t0070g0013 a0001c0001t0070g0006 a0001c0001t0070g0013	2	446	0.0045	-17	c.35 others(26): Show c.355_*371delTATATATATATATATAT	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	355	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7573020	CGGCCGAC others(10): Show CGGCCGACGCGGCCACCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18997.hp1 NA18967.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	2	446	0.0045	-17	c.15 others(28): Show c.1538_*1554delGGCCGACGCGGCCACCA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding		1052		chr17	TogoVar
SENP6_chr6_75596880_75723281	75617263	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0073 a0001c0001t0017g0073	1	362	0.0028	-17	c.53- others(32): Show c.53-4258_53-4242delTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75638606	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	362	0.0028	-17	c.459 others(34): Show c.459-2076_459-2060delATATATATATATATATT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75638608	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG01884.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0066 a0001c0001t0002g0067	2	362	0.0055	-17	c.459 others(34): Show c.459-2074_459-2058delATATATATATATATTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75638610	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	362	0.0028	-17	c.459 others(34): Show c.459-2072_459-2056delATATATATATATTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75638614	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01256.hp2 others(3): Show HG00280.hp2 HG00642.hp1 HG01256.hp2 HG03654.hp1 HG03688.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 others(3): Show a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0157 a0001c0001t0005g0158	6	362	0.0166	-17	c.459 others(34): Show c.459-2068_459-2052delATATATATTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75638616	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0005 a0009c0013t0005	a0009c0013t0005g0140 a0009c0013t0005g0140	1	362	0.0028	-17	c.459 others(34): Show c.459-2066_459-2050delATATATTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP7_chr3_101319205_101518212	101402519	GGCTGAGG others(10): Show GGCTGAGGCAGGAGAATC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00558.hp1 others(95): Show HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02717.hp1 HG02738.hp2 HG02895.hp1 HG02976.hp1 HG03139.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp1 NA19075.hp1 NA19086.hp1 NA19090.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0005 a0009c0014 a0001c0001 a0001c0005 a0009c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0005t0001 a0009c0014t0004	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 others(95): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0004g0191 a0001c0001t0004g0194 a0001c0001t0004g0218 a0001c0001t0004g0237 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0250 a0001c0001t0004g0280 a0001c0001t0008g0223 a0001c0001t0008g0224 a0001c0001t0014g0277 a0001c0005t0001g0279 a0009c0014t0004g0189	98	370	0.2649	-17	c.483 others(34): Show c.483-3481_483-3465delGATTCTCCTGCCTCAGC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	5/23			chr3	TogoVar
SEPTIN14_chr7_55788540_55867752	55865392	GGGATTTC others(10): Show GGGATTTCTAAGACAGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	390	0.0026	-17	c.-27 others(28): Show c.-2737_-2721delATCTGTCTTAGAAATCC	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding		2641		chr7	TogoVar
SEPTIN2_chr2_241310925_241359027	241354779	GTCTGCAG others(10): Show GTCTGCAGGCAGGGATCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG02630.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0275 a0001c0001t0019g0276 a0001c0001t0019g0275 a0001c0001t0019g0276	2	408	0.0049	-17	c.28 others(28): Show c.2843_*2859delTCTGCAGGCAGGGATCC	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		753		chr2	TogoVar
SEPTIN7_chr7_35796057_35912110	35838331	TCCCTCCC others(10): Show TCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	346	0.0029	-17	c.169 others(34): Show c.169+5434_169+5450delCTCCCTCCCTCCCTCCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838335	TCCCTCCC others(10): Show TCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	346	0.0029	-17	c.169 others(34): Show c.169+5438_169+5454delCTCCCTCCCTCCCTCCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77328150	GGTGTCCC others(10): Show GGTGTCCCCGTGCCCAGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp2 HG01261.hp2 others(15): Show HG00738.hp1 HG01168.hp2 HG01261.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG04199.hp1 HG06807.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0019 a0001c0001t0029 a0001c0001t0038 a0001c0001t0039 a0001c0001t0049 a0002c0002t0004 a0002c0002t0041 a0002c0002t0045 a0002c0004t0022 a0003c0003t0055 a0005c0008t0003	a0001c0001t0001g0110 a0001c0001t0002g0130 a0001c0001t0006g0128 others(15): Show a0001c0001t0001g0110 a0001c0001t0002g0130 a0001c0001t0006g0128 a0001c0001t0007g0026 a0001c0001t0010g0135 a0001c0001t0019g0060 a0001c0001t0019g0076 a0001c0001t0029g0117 a0001c0001t0038g0118 a0001c0001t0039g0102 a0001c0001t0049g0035 a0002c0002t0004g0024 a0002c0002t0004g0036 a0002c0002t0041g0041 a0002c0002t0045g0042 a0002c0004t0022g0040 a0003c0003t0055g0095 a0005c0008t0003g0054	18	150	0.1200	-17	c.76+ others(34): Show c.76+20961_76+20977delCGTGCCCAGTGTGTCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77328186	CGTCCCCA others(10): Show CGTCCCCATGCCCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0002 a0002c0002t0043g0002	1	150	0.0067	-17	c.76+ others(34): Show c.76+21005_76+21021delGTGTCCCCATGCCCAGG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77328150	GGTGTCCC others(10): Show GGTGTCCCCGTGCCCAGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp2 HG01261.hp1 others(15): Show HG00738.hp1 HG01168.hp2 HG01261.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02922.hp2 HG03041.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp1 HG04199.hp1 HG06807.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0033 a0001c0001t0034 a0001c0001t0048 a0001c0001t0049 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0005t0011 a0003c0003t0043 a0005c0008t0004	a0001c0001t0001g0132 a0001c0001t0002g0142 a0001c0001t0002g0155 others(15): Show a0001c0001t0001g0132 a0001c0001t0002g0142 a0001c0001t0002g0155 a0001c0001t0003g0138 a0001c0001t0005g0126 a0001c0001t0016g0091 a0001c0001t0016g0144 a0001c0001t0033g0125 a0001c0001t0034g0137 a0001c0001t0048g0131 a0001c0001t0049g0145 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0009g0136 a0002c0002t0012g0140 a0002c0005t0011g0135 a0003c0003t0043g0046 a0005c0008t0004g0146	18	158	0.1139	-17	c.22+ others(32): Show c.22+7810_22+7826delCGTGCCCAGTGTGTCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77328186	CGTCCCCA others(10): Show CGTCCCCATGCCCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0124 a0002c0002t0028g0124	1	158	0.0063	-17	c.22+ others(32): Show c.22+7854_22+7870delGTGTCCCCATGCCCAGG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158126474	AAGGGAGG others(10): Show AAGGGAGGGAGGAGATGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0021 a0008c0008t0021	a0008c0008t0021g0025 a0008c0008t0021g0025	1	366	0.0027	-17	c.101 others(36): Show c.1015+1617_1015+1633delCCATCTCCTCCCTCCCT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	10/16			chr6	TogoVar
SERF1B_chr5_70020251_70048113	70046392	CCTTTTTT others(10): Show CCTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01069.hp1 others(3): Show HG00099.hp1 HG00280.hp2 HG01069.hp1 HG01071.hp1 HG03017.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0165 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0165 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197	6	218	0.0275	-17	c.46 others(28): Show c.4653_*4669delCTTTTTTTTTTTTTTTT	SERF1B	ENSG00000205572.11	transcript	ENST00000380750.8	protein_coding		3280		chr5	TogoVar

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