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
SEPTIN9_chr17_77276499_77505593	77485100	T T	TGTGGTGA others(11): Show TGTGGTGATGTGGGTGGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02040.hp1 HG02056.hp1 others(15): Show HG00423.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp2 HG03017.hp2 HG03195.hp1 HG03486.hp2 HG03579.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18979.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0023 a0001c0001t0034 a0001c0001t0048 a0001c0001t0054 a0001c0001t0056 a0002c0002t0026 a0002c0004t0022 a0005c0006t0001	a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0093 others(15): Show a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0002g0058 a0001c0001t0002g0103 a0001c0001t0003g0062 a0001c0001t0003g0091 a0001c0001t0005g0027 a0001c0001t0023g0012 a0001c0001t0034g0043 a0001c0001t0048g0149 a0001c0001t0054g0004 a0001c0001t0056g0018 a0002c0002t0026g0057 a0002c0004t0022g0007 a0002c0004t0022g0040 a0005c0006t0001g0097	18	150	0.1200	18	c.914 others(35): Show c.914-2297_914-2280dupGTGGGTGGTGGTGGTGAT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77349091	T T	TTTTTTAT others(11): Show TTTTTTATTTTTATTTTTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	158	0.0063	18	c.22+ others(35): Show c.22+28749_22+28766dupATTTTTATTTTTATTTTT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77350610	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	158	0.0063	18	c.22+ others(35): Show c.22+30273_22+30290dupGTGTGTGTGTGTGTGTGT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485100	T T	TGTGGTGA others(11): Show TGTGGTGATGTGGGTGGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01109.hp1 HG02040.hp2 others(18): Show HG00423.hp2 HG01109.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02273.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG03017.hp2 HG03195.hp1 HG03486.hp1 HG03579.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp2 NA18944.hp2 NA18979.hp2 NA19091.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0060 a0002c0002t0008 a0002c0002t0022 a0002c0005t0011 a0005c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0086 others(18): Show a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0086 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0128 a0001c0001t0002g0007 a0001c0001t0002g0057 a0001c0001t0004g0024 a0001c0001t0005g0084 a0001c0001t0006g0116 a0001c0001t0007g0105 a0001c0001t0042g0082 a0001c0001t0044g0010 a0001c0001t0045g0001 a0001c0001t0060g0151 a0002c0002t0008g0050 a0002c0002t0022g0069 a0002c0005t0011g0129 a0002c0005t0011g0135 a0005c0007t0001g0110	21	158	0.1329	18	c.860 others(35): Show c.860-2297_860-2280dupGTGGGTGGTGGTGGTGAT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0047 a0001c0001t0030g0047	1	368	0.0027	18	c.92 others(29): Show c.9279_*9280insATATATATATATATTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERF1B_chr5_70020251_70048113	70036594	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03195.hp1 HG02486.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0188 a0001c0001t0004g0083 a0001c0001t0004g0188	2	218	0.0092	18	c.117 others(35): Show c.117-4911_117-4894dupACACACACACACACACAC	SERF1B	ENSG00000205572.11	transcript	ENST00000380750.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
SERF1B_chr5_70020251_70048113	70036627	A A	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	218	0.0046	18	c.117 others(35): Show c.117-4896_117-4895insTCTCTCTCTCTCTCTCTC	SERF1B	ENSG00000205572.11	transcript	ENST00000380750.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
SERF1B_chr5_70020251_70048113	70036629	A A	ACACACAC others(11): Show ACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0203 a0001c0001t0012g0203	1	218	0.0046	18	c.117 others(35): Show c.117-4894_117-4893insACACACTCTCTCTCTCTC	SERF1B	ENSG00000205572.11	transcript	ENST00000380750.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
SERF1B_chr5_70020251_70048113	70036629	A A	ACACACTC others(11): Show ACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	218	0.0046	18	c.117 others(35): Show c.117-4894_117-4893insACACTCTCTCTCTCTCTC	SERF1B	ENSG00000205572.11	transcript	ENST00000380750.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
SERF1B_chr5_70020251_70048113	70036629	A A	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	218	0.0046	18	c.117 others(35): Show c.117-4877_117-4860dupTCTCTCTCTCTCTCTCTC	SERF1B	ENSG00000205572.11	transcript	ENST00000380750.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
SERGEF_chr11_17783048_18018047	17910185	A A	ACTCTCTC others(11): Show ACTCTCTCTCTCACTCTCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp2 HG02155.hp1 others(1): Show HG02015.hp1 HG02015.hp2 HG02155.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0002t0002g0148 others(1): Show a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0002t0002g0148 a0001c0002t0002g0170	4	226	0.0177	18	c.101 others(39): Show c.1012-31942_1012-31941insAGAGAGTGAGAGAGAGAG	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG01175.hp1 others(28): Show HG00544.hp1 HG00673.hp1 HG01175.hp1 HG02056.hp1 HG02129.hp1 HG02145.hp2 HG02293.hp2 HG02698.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03669.hp2 HG04199.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18990.hp1 NA19000.hp2 NA19067.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0040 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0002g0005 a0001c0001t0002g0027 a0001c0001t0002g0115 a0001c0001t0018g0264 a0001c0002t0001g0202	31	366	0.0847	18	c.37 others(29): Show c.3716_*3717insTTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERINC1_chr6_122438351_122476807	122445883	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	366	0.0027	18	c.122 others(35): Show c.1227-705_1227-704insTTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	9/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18978.hp2 NA18981.hp2 NA18747.hp2 NA18978.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0146 a0001c0001t0001g0172 a0001c0001t0001g0173	3	366	0.0082	18	c.760 others(31): Show c.760-23_760-22insATATATATATTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG01891.hp1 HG02896.hp1 HG02897.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0191 a0001c0001t0001g0192 others(1): Show a0001c0001t0001g0168 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193	4	366	0.0109	18	c.760 others(31): Show c.760-23_760-22insATATATATATATTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0143 a0001c0001t0007g0143	1	366	0.0027	18	c.760 others(31): Show c.760-40_760-23dupATATATATATATATATAT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC2_chr1_31408213_31439678	31414421	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02922.hp2 others(1): Show HG02622.hp2 HG02809.hp2 HG02922.hp2 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0118 a0001c0003t0002g0119 a0001c0003t0002g0120 others(1): Show a0001c0003t0002g0118 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0121	4	376	0.0106	18	c.39+ others(33): Show c.39+1134_39+1151dupTGTGTGTGTGTGTGTGTG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31429577	G G	GAGGGCCC others(11): Show GAGGGCCCTGAGCCAGAGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0336 a0002c0002t0001g0336	1	376	0.0027	18	c.101 others(33): Show c.1013+40_1013+57dupAGGGCCCTGAGCCAGAGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(11): Show ATAGGGTGGTTAGGGTGGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0123 a0001c0010t0002g0123	1	376	0.0027	18	c.101 others(37): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431804	A A	ATAGGGTG others(11): Show ATAGGGTGGAGAGGGTGGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0367 a0002c0002t0001g0367	1	376	0.0027	18	c.101 others(37): Show c.1014-1163_1014-1162insTAGGGTGGAGAGGGTGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431840	A A	AGAGGGTG others(11): Show AGAGGGTGGATAGGATGGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0344 a0001c0001t0002g0344	1	376	0.0027	18	c.101 others(37): Show c.1014-1127_1014-1126insGAGGGTGGATAGGATGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431886	C C	CAGGGTGG others(11): Show CAGGGTGGATAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	376	0.0027	18	c.101 others(37): Show c.1014-1064_1014-1047dupATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431903	A A	ATAGGGTG others(11): Show ATAGGGTGGTTAGGGTGGT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0179 a0001c0004t0003g0179	1	376	0.0027	18	c.101 others(37): Show c.1014-1056_1014-1055insTTAGGGTGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431953	G G	GTGGATAG others(11): Show GTGGATAGGGTGGATAGGA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0202 a0001c0004t0003g0202	1	376	0.0027	18	c.101 others(37): Show c.1014-1011_1014-1010insATAGGGTGGATAGGATGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431984	A A	ATAGGGTG others(11): Show ATAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0224 a0001c0004t0016g0224	1	376	0.0027	18	c.101 others(35): Show c.1014-966_1014-965insTTAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432011	A A	ACAGGGTG others(11): Show ACAGGGTGGACAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0036	1	376	0.0027	18	c.101 others(35): Show c.1014-956_1014-955insCAGGGTGGACAGGGTGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432079	G G	GTGGACAG others(11): Show GTGGACAGGGTGGATAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0028 a0001c0001t0020g0028	1	376	0.0027	18	c.101 others(35): Show c.1014-885_1014-884insACAGGGTGGATAGGATGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432110	A A	ATAGGGTG others(11): Show ATAGGGTGGATAGGATGGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0183 a0001c0004t0014g0183	1	376	0.0027	18	c.101 others(35): Show c.1014-849_1014-848insATAGGATGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432115	G G	GTGGTTAG others(11): Show GTGGTTAGGGTGGATAGGA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0353 a0002c0002t0023g0353	1	376	0.0027	18	c.101 others(35): Show c.1014-835_1014-834insATGGTTAGGGTGGATAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432156	C C	CAGGGTGG others(11): Show CAGGGTGGAGAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0028 a0001c0001t0020g0028	1	376	0.0027	18	c.101 others(35): Show c.1014-803_1014-802insGAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432156	C C	CAGGGTGG others(11): Show CAGGGTGGATAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0043 a0001c0005t0002g0043	1	376	0.0027	18	c.101 others(35): Show c.1014-794_1014-793insGAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432156	C C	CAGGGTGG others(11): Show CAGGGTGGATAGGGTGGAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0242 a0002c0002t0006g0242	1	376	0.0027	18	c.101 others(35): Show c.1014-794_1014-777dupATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432164	A A	ATAGGGTG others(11): Show ATAGGGTGGATAGGATGGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02970.hp1 HG03225.hp2 HG01884.hp1 HG02970.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0132 a0001c0001t0007g0029 a0001c0001t0007g0032 a0001c0001t0005g0132 a0001c0001t0007g0029 a0001c0001t0007g0032	3	376	0.0080	18	c.101 others(35): Show c.1014-790_1014-789insATGGTTAGGGTGGATAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432165	T T	TAGGATGG others(11): Show TAGGATGGTTAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0357 a0002c0002t0001g0357	1	376	0.0027	18	c.101 others(35): Show c.1014-799_1014-798insATGGTTAGGGTGGACAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432165	T T	TAGGGTGG others(11): Show TAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0050 a0001c0003t0002g0050	1	376	0.0027	18	c.101 others(35): Show c.1014-785_1014-784insCAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGGTGG others(11): Show TAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0203 a0001c0004t0010g0203	1	376	0.0027	18	c.101 others(35): Show c.1014-777_1014-776insACAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC5_chr5_80133727_80261048	80139596	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp2 HG03098.hp2 HG03041.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0102 a0001c0001t0029g0144 a0001c0001t0029g0102 a0001c0001t0029g0144	2	286	0.0070	18	c.40 others(29): Show c.4066_*4067insCTCTCTCTCTCTCTCTCT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	12/12	4066		chr5	TogoVar
SERINC5_chr5_80133727_80261048	80161013	T T	TACGTGTA others(11): Show TACGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01346.hp1 HG01361.hp2 others(1): Show HG01074.hp2 HG01346.hp1 HG01361.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0047 a0001c0001t0002g0097 a0001c0001t0002g0098 others(1): Show a0001c0001t0002g0047 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0007g0083	4	286	0.0140	18	c.860 others(35): Show c.860-2069_860-2052dupGTGTATATATATACACGT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	7/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80174369	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG02015.hp1 others(20): Show HG00438.hp2 HG00741.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02258.hp1 HG02965.hp1 HG02976.hp1 HG03471.hp1 NA18522.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18963.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19043.hp1 NA19057.hp2 NA19074.hp2 NA19082.hp1 NA19084.hp2 NA19087.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0021 a0001c0001t0030 a0001c0001t0060 a0001c0002t0003 a0001c0002t0005 a0001c0002t0016 a0001c0002t0027 a0003c0007t0002	a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0089 others(20): Show a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0177 a0001c0001t0001g0200 a0001c0001t0002g0056 a0001c0001t0002g0071 a0001c0001t0002g0104 a0001c0001t0007g0275 a0001c0001t0014g0152 a0001c0001t0021g0053 a0001c0001t0021g0141 a0001c0001t0030g0257 a0001c0001t0060g0017 a0001c0002t0003g0031 a0001c0002t0003g0036 a0001c0002t0003g0168 a0001c0002t0003g0224 a0001c0002t0005g0038 a0001c0002t0016g0034 a0001c0002t0027g0274 a0003c0007t0002g0124	23	286	0.0804	18	c.551 others(33): Show c.551+567_551+584dupATTATTATTATTATTATT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	5/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80181416	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0260 a0001c0001t0046g0260	1	286	0.0035	18	c.196 others(35): Show c.196-3370_196-3353dupCACACACACACACACACA	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	2/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80222561	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01515.hp1 HG01109.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0063 a0001c0001t0002 a0001c0001t0063	a0001c0001t0002g0163 a0001c0001t0063g0164 a0001c0001t0002g0163 a0001c0001t0063g0164	2	286	0.0070	18	c.28- others(35): Show c.28-19509_28-19508insACACACACACACACACAC	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERPINA11_chr14_94437464_94457800	94452598	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG00733.hp2 others(7): Show HG00558.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01099.hp1 HG01168.hp1 HG01243.hp1 HG01361.hp1 HG01516.hp2 HG02486.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0005 a0003c0003 a0002c0002 a0002c0005 a0003c0003	a0002c0002t0001 a0002c0005t0001 a0003c0003t0001 a0002c0002t0001 a0002c0005t0001 a0003c0003t0001	a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 others(6): Show a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0005t0001g0031 a0003c0003t0001g0292	10	452	0.0221	18	c.-4+ others(31): Show c.-4+113_-4+130dupGTGTGTGTGTGTGTGTGT	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94591612	C C	CTATTCTA others(11): Show CTATTCTATTCTATTCTAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18967.hp2 NA18906.hp1 NA18967.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0008 a0001c0001t0001 a0002c0002t0008	a0001c0001t0001g0179 a0002c0002t0008g0202 a0001c0001t0001g0179 a0002c0002t0008g0202	2	464	0.0043	18	c.103 others(35): Show c.1039-444_1039-443insATTCTATTCTATTCTATT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINA9_chr14_94457721_94481197	94464308	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0280 a0002c0014t0001g0280	1	466	0.0022	18	c.105 others(35): Show c.1050+398_1050+399insGGAGAGAGAGAGAGAGAG	SERPINA9	ENSG00000170054.16	transcript	ENST00000674397.2	protein_coding	4/4			chr14	TogoVar
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01168.hp1 others(17): Show HG00735.hp2 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01943.hp2 HG02040.hp2 HG02683.hp2 HG03041.hp2 NA18747.hp2 NA18961.hp2 NA18977.hp1 NA18990.hp1 NA19056.hp2 NA19062.hp2 NA19074.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0052 others(9): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0011g0200	20	402	0.0498	18	c.304 others(33): Show c.304-534_304-517dupTTCTTTCTTTCTTTCTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB6_chr6_2943159_2976567	2944802	T T	TTAATTCC others(11): Show TTAATTCCCTTCCCATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00558.hp1 others(38): Show HG00280.hp1 HG00408.hp1 HG00558.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG03017.hp1 HG03490.hp2 HG03492.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18962.hp1 NA18968.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA19012.hp1 NA19056.hp2 NA19062.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp2 NA19090.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0005 a0001c0001 a0003c0004 a0004c0005	a0001c0001t0001 a0003c0004t0001 a0004c0005t0001 a0001c0001t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0028 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0183 a0003c0004t0001g0099 a0003c0004t0001g0100 a0004c0005t0001g0106 a0004c0005t0001g0200	41	384	0.1068	18	c.34 others(29): Show c.3495_*3496insTGTATGGGAAGGGAATTA	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		3356		chr6	TogoVar
SERPINB7_chr18_63770418_63810370	63783232	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18964.hp2 HG02155.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0336 a0001c0001t0008g0103 a0001c0001t0001g0336 a0001c0001t0008g0103	2	432	0.0046	18	c.168 others(33): Show c.168+693_168+694insAAGAAAGAAAGAAAGAAA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783232	G G	GAGAGAGA others(11): Show GAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19010.hp2 HG03486.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0006 a0001c0001t0001 a0001c0004t0006	a0001c0001t0001g0354 a0001c0004t0006g0259 a0001c0001t0001g0354 a0001c0004t0006g0259	2	432	0.0046	18	c.168 others(33): Show c.168+695_168+696insGAGAGAAAGAAAGAAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783232	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0254 a0001c0004t0006g0254	1	432	0.0023	18	c.168 others(33): Show c.168+695_168+696insGAGAGAGAGAAAGAAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63786210	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0381 a0001c0004t0006g0381	1	432	0.0023	18	c.168 others(35): Show c.168+3677_168+3694dupTATATATATATATATATA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar

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