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
CCNQ_chrX_153582925_153604139	153590231	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG02145.hp1 others(1): Show HG00741.hp1 HG01243.hp1 HG02145.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0046	4	62	0.0645	13	c.658 others(30): Show c.658-1790_658-1778dupTTTTTTTTTTTTT	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding	4/4			chrX	TogoVar
CCNT1_chr12_48683458_48721707	48697522	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0098 a0001c0002t0018g0098	1	349	0.0029	13	c.542 others(28): Show c.542+603_542+615dupTTTTTTTTTTTTT	CCNT1	ENSG00000129315.12	transcript	ENST00000261900.8	protein_coding	6/8			chr12	TogoVar
CCNT1_chr12_48683458_48721707	48702835	T T	TGTAGCTA others(6): Show TGTAGCTAGGCATG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	384	0.0026	13	c.373 others(30): Show c.373-1775_373-1763dupCATGCCTAGCTAC	CCNT1	ENSG00000129315.12	transcript	ENST00000261900.8	protein_coding	3/8			chr12	TogoVar
CCNT2_chr2_134913822_134964342	134928274	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0296 a0001c0001t0005g0296	1	108	0.0093	13	c.240 others(30): Show c.240+8390_240+8402dupTTTTTTTTTTTTT	CCNT2	ENSG00000082258.13	transcript	ENST00000264157.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCNT2_chr2_134913822_134964342	134931262	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01346.hp2 HG02040.hp2 others(11): Show HG00408.hp1 HG01346.hp2 HG02040.hp2 HG02148.hp2 HG02523.hp2 HG02559.hp2 HG02970.hp1 NA18944.hp2 NA18968.hp1 NA18982.hp1 NA18983.hp1 NA18999.hp2 NA19057.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0005 a0001c0003t0022 a0001c0001t0003 a0001c0001t0005 a0001c0003t0022	a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0184 others(9): Show a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0001t0003g0192 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0210 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0005g0324 a0001c0003t0022g0124	14	86	0.1628	13	c.241 others(30): Show c.241-5566_241-5554dupTTTTTTTTTTTTT	CCNT2	ENSG00000082258.13	transcript	ENST00000264157.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCNYL1_chr2_207706640_207761174	207708084	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp2 others(50): Show HG00408.hp1 HG00544.hp2 HG00597.hp2 HG01169.hp2 HG01346.hp2 HG02015.hp2 HG02083.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02897.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18969.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18982.hp2 NA18988.hp2 NA18999.hp2 NA19007.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0002g0012 a0001c0001t0003g0289 a0001c0001t0006g0054 a0001c0001t0013g0074 a0001c0002t0001g0293 a0001c0002t0001g0295	53	74	0.7162	13	c.-38 others(24): Show c.-3813_-3812insTTTTTTTTTTTTT	CCNYL1	ENSG00000163249.13	transcript	ENST00000295414.8	protein_coding		3555		chr2	TogoVar
CCNY_chr10_35331509_35577667	35389901	T T	TGGTCATG others(6): Show TGGTCATGAGCATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp2 HG02818.hp1 others(5): Show HG02559.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0008 a0001c0001t0009 a0003c0004t0009 a0001c0001t0008 a0001c0001t0009 a0003c0004t0009	a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0139 others(5): Show a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0139 a0001c0001t0008g0140 a0001c0001t0009g0142 a0003c0004t0009g0135 a0003c0004t0009g0136 a0003c0004t0009g0141	8	294	0.0272	13	c.154 others(32): Show c.154+52696_154+52708dupGTCATGAGCATAG	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCNY_chr10_35331509_35577667	35419533	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	141	0.0071	13	c.155 others(32): Show c.155-63868_155-63856dupTTTTTTTTTTTTT	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCNY_chr10_35331509_35577667	35431354	C C	CCCCCCCT others(6): Show CCCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03927.hp1 HG01256.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0048 a0001c0001t0011g0124 a0001c0001t0002g0048 a0001c0001t0011g0124	2	291	0.0069	13	c.155 others(32): Show c.155-52044_155-52032dupCTCCCCCTCCCCC	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCNY_chr10_35331509_35577667	35431355	C C	CCCCCCCT others(6): Show CCCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0072 a0002c0003t0002g0072	1	201	0.0050	13	c.155 others(32): Show c.155-52044_155-52043insCTCCCCCTCCCCC	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCNY_chr10_35331509_35577667	35431361	T T	TCCCCCTC others(6): Show TCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18999.hp2 NA19083.hp1 HG02486.hp2 NA18999.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0094 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0094	3	293	0.0102	13	c.155 others(32): Show c.155-52038_155-52026dupCTCCCCCTCCCCC	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCNY_chr10_35331509_35577667	35431367	T T	TCCCCCTC others(6): Show TCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	294	0.0034	13	c.155 others(32): Show c.155-52025_155-52024insCCCCCCTCCCCCT	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCNY_chr10_35331509_35577667	35431372	C C	CCCCCCCT others(6): Show CCCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	294	0.0034	13	c.155 others(32): Show c.155-52032_155-52031insCCCCCCTCCCCCT	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9			chr10	TogoVar
CCNY_chr10_35331509_35577667	35431379	T T	TCCCCCTC others(6): Show TCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	279	0.0036	13	c.155 others(32): Show c.155-52025_155-52024insCCCCCTCCCCCTC	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9			chr10	TogoVar
CCNY_chr10_35331509_35577667	35431385	T T	TCCCCCTT others(6): Show TCCCCCTTCCCCTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	293	0.0034	13	c.155 others(32): Show c.155-52015_155-52014insCTTCCCCTCCCCC	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCNY_chr10_35331509_35577667	35516661	C C	CTTCCTTT others(6): Show CTTCCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02055.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0036 a0001c0001t0002g0004 a0001c0001t0002g0036	2	106	0.0189	13	c.365 others(26): Show c.365+40_365+41insCCTTTTTTTTTTT	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCNY_chr10_35331509_35577667	35516661	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0024 a0001c0001t0015g0024	1	105	0.0095	13	c.365 others(26): Show c.365+53_365+65dupTTTTTTTTTTTTT	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCP110_chr16_19518942_19558408	19538302	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp2 NA18999.hp2 HG02559.hp2 HG03516.hp2 NA18999.hp2	a0002 a0002	a0002c0001 a0002c0009 a0002c0001 a0002c0009	a0002c0001t0002 a0002c0009t0005 a0002c0001t0002 a0002c0009t0005	a0002c0001t0002g0193 a0002c0009t0005g0098 a0002c0009t0005g0202 a0002c0001t0002g0193 a0002c0009t0005g0098 a0002c0009t0005g0202	3	132	0.0227	13	c.191 others(30): Show c.1918+731_1918+743dupTTTTTTTTTTTTT	CCP110	ENSG00000103540.17	transcript	ENST00000694978.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCPG1_chr15_55350239_55413359	55363799	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0043 a0001c0002t0006g0043	1	141	0.0071	13	c.828 others(30): Show c.828+1376_828+1388dupAAAAAAAAAAAAA	CCPG1	ENSG00000260916.8	transcript	ENST00000442196.8	protein_coding	7/8			chr15	TogoVar
CCPG1_chr15_55350239_55413359	55389068	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0083 a0002c0004t0001g0083	1	158	0.0063	13	c.60+ others(26): Show c.60+284_60+296dupTTTTTTTTTTTTT	CCPG1	ENSG00000260916.8	transcript	ENST00000442196.8	protein_coding	2/8			chr15	TogoVar
CCR10_chr17_42673889_42686843	42686469	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA20905.hp2 HG02970.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	2	186	0.0108	13	c.-46 others(24): Show c.-4659_-4647dupAAAAAAAAAAAAA	CCR10	ENSG00000184451.5	transcript	ENST00000332438.4	protein_coding		4627		chr17	TogoVar
CCR9_chr3_45881543_45908174	45890352	T T	TATATATA others(6): Show TATATATATATAAC	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	243	0.0041	13	c.-29 others(30): Show c.-29+3708_-29+3709insACATATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCSER1_chr4_90122394_91610295	90214547	T T	TGACAACT others(6): Show TGACAACTGCATGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02717.hp1 HG01884.hp2 HG02109.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0032 a0001c0001t0003g0012 a0001c0001t0005g0017 a0001c0001t0001g0032 a0001c0001t0003g0012 a0001c0001t0005g0017	3	38	0.0789	13	c.-42 others(32): Show c.-42+86716_-42+86717insGACAACTGCATGA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	1/10			chr4	TogoVar
CCSER1_chr4_90122394_91610295	90271862	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	29	0.0345	13	c.-41 others(32): Show c.-41-36381_-41-36380insATATATATATATT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90271862	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	29	0.0345	13	c.-41 others(32): Show c.-41-36381_-41-36380insATATATTTTTTTT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90271862	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0019 a0001c0008t0019	a0001c0008t0019g0029 a0001c0008t0019g0029	1	29	0.0345	13	c.-41 others(32): Show c.-41-36381_-41-36380insATATTTTTTTTTT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90611059	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	10	0.1000	13	c.172 others(34): Show c.1725-16958_1725-16946dupTTTTTTTTTTTTT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90648288	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0019 a0001c0008t0019	a0001c0008t0019g0029 a0001c0008t0019g0029	1	38	0.0263	13	c.193 others(34): Show c.1932+20057_1932+20069dupGAAAGAAAGAAAG	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91496686	T T	TATATATA others(6): Show TATATATATATTCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0009 a0002c0002t0018g0009	1	37	0.0270	13	c.221 others(36): Show c.2218-101878_2218-101877insATTCAATATATAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91496805	T T	TATATATA others(6): Show TATATATATATTCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp2 HG03516.hp2 HG02258.hp2 HG02723.hp2 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0001c0001t0004 a0004c0004t0004 a0001c0001t0002 a0001c0001t0004 a0004c0004t0004	a0001c0001t0002g0027 a0001c0001t0004g0022 a0004c0004t0004g0018 a0001c0001t0002g0027 a0001c0001t0004g0022 a0004c0004t0004g0018	3	38	0.0789	13	c.221 others(36): Show c.2218-101759_2218-101758insATTCAATATATAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER2_chr10_84323589_84523517	84385004	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0016 a0002c0003t0006g0016	1	234	0.0043	13	c.161 others(34): Show c.1614+11189_1614+11190insCACACACACACAC	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	3/9			chr10	TogoVar
CCSER2_chr10_84323589_84523517	84436325	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	125	0.0080	13	c.186 others(32): Show c.1869-2171_1869-2159dupAAAAAAAAAAAAA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84439105	C C	CAACAAAA others(6): Show CAACAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	368	0.0027	13	c.206 others(30): Show c.2064+403_2064+404insAAAAAAAAAACAA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84441743	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	368	0.0027	13	c.206 others(32): Show c.2064+3048_2064+3049insGTTTTTTTTTTTT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCT8L2_chr22_16585751_16597810	16588623	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 NA20129.hp1 HG03098.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0000 a0001c0008t0001g0000 a0001c0001t0001g0000 a0001c0008t0001g0000	2	74	0.0270	13	c.22 others(24): Show c.2253_*2254insTTTTTTTTTTTTT	CCT8L2	ENSG00000198445.4	transcript	ENST00000359963.4	protein_coding		2127		chr22	TogoVar
CCZ1B_chr7_6793937_6831275	6804424	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02300.hp1 HG01952.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0182 a0001c0001t0004g0180 a0001c0001t0004g0182	2	124	0.0161	13	c.110 others(30): Show c.1106+513_1106+514insTTTTTTTTTTTTT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	12/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6818678	A A	AAAGAAAG others(6): Show AAAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0100 a0002c0003t0003g0100	1	265	0.0038	13	c.698 others(30): Show c.698+1087_698+1088insGTCTTTCTTTCTT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	7/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6825639	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	351	0.0028	13	c.120 others(28): Show c.120+438_120+439insGTGTGTGTGTGTG	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	1/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6828278	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	115	0.0087	13	c.-20 others(24): Show c.-2082_-2081insTTTTTTTTTTTTT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		2004		chr7	TogoVar
CCZ1_chr7_5893733_5931550	5907817	A A	ACAGCCTC others(6): Show ACAGCCTCTTACTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(97): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA19010.hp1 NA19010.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0004 a0001c0005 others(8): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0002c0002 a0002c0008 a0003c0003 a0004c0011 a0005c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(23): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 a0001c0004t0005 a0001c0004t0008 a0001c0004t0013 a0001c0005t0006 a0001c0005t0017 a0001c0005t0019 a0001c0006t0001 a0001c0006t0018 a0001c0007t0011 a0001c0007t0012 a0001c0010t0007 a0002c0002t0001 a0002c0002t0015 a0002c0002t0016 a0002c0008t0014 a0003c0003t0003 a0003c0003t0007 a0003c0003t0010 a0004c0011t0004 a0005c0009t0007	a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0039 others(96): Show a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0084 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0037 a0001c0001t0004g0055 a0001c0001t0004g0083 a0001c0001t0008g0002 a0001c0001t0009g0020 a0001c0001t0009g0022 a0001c0001t0020g0054 a0001c0001t0021g0056 a0001c0004t0005g0014 a0001c0004t0005g0015 a0001c0004t0005g0016 a0001c0004t0005g0017 a0001c0004t0005g0018 a0001c0004t0008g0106 a0001c0004t0013g0012 a0001c0005t0006g0107 a0001c0005t0006g0109 a0001c0005t0006g0110 a0001c0005t0006g0112 a0001c0005t0017g0108 a0001c0005t0019g0111 a0001c0006t0001g0051 a0001c0006t0001g0070 a0001c0006t0018g0113 a0001c0007t0011g0013 a0001c0007t0012g0028 a0001c0010t0007g0097 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0063 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0015g0072 a0002c0002t0016g0090 a0002c0008t0014g0019 a0003c0003t0003g0029 a0003c0003t0003g0042 a0003c0003t0003g0048 a0003c0003t0003g0049 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0068 a0003c0003t0003g0073 a0003c0003t0003g0085 a0003c0003t0003g0086 a0003c0003t0003g0102 a0003c0003t0003g0103 a0003c0003t0007g0026 a0003c0003t0010g0001 a0004c0011t0004g0100 a0005c0009t0007g0104	100	114	0.8772	13	c.699 others(30): Show c.699-2215_699-2214insCCTCTTACTCCAG	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCZ1_chr7_5893733_5931550	5920470	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02055.hp1 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0029 a0003c0003t0003g0049 a0003c0003t0003g0029 a0003c0003t0003g0049	2	14	0.1429	13	c.110 others(30): Show c.1106+509_1106+521dupTTTTTTTTTTTTT	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCZ1_chr7_5893733_5931550	5927060	G G	GTTGTATA others(6): Show GTTGTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0056 a0001c0001t0021g0056	1	114	0.0088	13	c.13 others(24): Show c.1373_*1374insTTGTATATATATA	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding		511		chr7	TogoVar
CD109_chr6_73691203_73833313	73711534	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG02027.hp1 others(17): Show HG00609.hp1 HG00621.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG03654.hp1 NA18940.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18991.hp2 NA18995.hp1 NA19011.hp2 NA19012.hp1 NA19066.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0010 others(2): Show a0001c0001 a0002c0002 a0003c0010 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0008 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0008 a0002c0002t0002 a0002c0002t0014 a0002c0002t0048 a0003c0010t0001 a0003c0010t0007 a0004c0005t0007 a0005c0006t0006	a0001c0001t0001g0090 a0001c0001t0008g0098 a0002c0002t0002g0084 others(17): Show a0001c0001t0001g0090 a0001c0001t0008g0098 a0002c0002t0002g0084 a0002c0002t0002g0100 a0002c0002t0002g0111 a0002c0002t0002g0118 a0002c0002t0002g0160 a0002c0002t0002g0165 a0002c0002t0002g0172 a0002c0002t0002g0313 a0002c0002t0002g0345 a0002c0002t0014g0207 a0002c0002t0014g0274 a0002c0002t0014g0308 a0002c0002t0048g0087 a0003c0010t0001g0173 a0003c0010t0007g0273 a0004c0005t0007g0299 a0005c0006t0006g0103 a0005c0006t0006g0180	20	312	0.0641	13	c.248 others(32): Show c.248-11712_248-11700dupTTTTTTTTTTTTT	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD109_chr6_73691203_73833313	73725504	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG03579.hp1 others(2): Show HG00408.hp2 HG00438.hp2 HG03579.hp1 NA18953.hp1 NA19067.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0049 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0049 a0006c0007t0009	a0001c0001t0001g0015 a0001c0001t0005g0024 a0001c0001t0005g0245 others(2): Show a0001c0001t0001g0015 a0001c0001t0005g0024 a0001c0001t0005g0245 a0001c0001t0049g0012 a0006c0007t0009g0188	5	165	0.0303	13	c.276 others(30): Show c.276+2234_276+2246dupTTTTTTTTTTTTT	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD109_chr6_73691203_73833313	73802305	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03486.hp1 NA20129.hp1 HG02559.hp2 HG03486.hp1 NA20129.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0013 a0008c0011t0013	a0008c0011t0013g0237 a0008c0011t0013g0318 a0008c0011t0013g0324 a0008c0011t0013g0237 a0008c0011t0013g0318 a0008c0011t0013g0324	3	217	0.0138	13	c.287 others(30): Show c.2879-914_2879-913insATATATATTTTTT	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD163L1_chr12_7349960_7449153	7389962	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0029 a0002c0003t0001g0029	1	310	0.0032	13	c.205 others(32): Show c.2050+6120_2050+6132dupATATATATATATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	8/19			chr12	TogoVar
CD163_chr12_7465811_7508777	7483841	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02027.hp1 HG02132.hp2 others(5): Show HG01891.hp1 HG02027.hp1 HG02132.hp2 NA18944.hp2 NA18968.hp1 NA18981.hp1 NA19066.hp2 NA19078.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0199 a0001c0005t0001g0034 a0001c0005t0001g0187 others(5): Show a0001c0003t0001g0199 a0001c0005t0001g0034 a0001c0005t0001g0187 a0001c0005t0001g0190 a0001c0005t0001g0192 a0001c0005t0001g0200 a0001c0005t0001g0207 a0001c0005t0001g0214	8	263	0.0304	13	c.278 others(30): Show c.2780-167_2780-166insATATATATATATA	CD163	ENSG00000177575.13	transcript	ENST00000432237.3	protein_coding	11/16			chr12	TogoVar
CD163_chr12_7465811_7508777	7483841	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18948.hp1 NA18955.hp1 others(6): Show HG02109.hp1 NA18948.hp1 NA18955.hp1 NA18960.hp1 NA18982.hp2 NA18988.hp2 NA19003.hp2 NA19010.hp1 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0205 a0001c0005t0001g0006 a0001c0005t0001g0188 others(3): Show a0001c0003t0001g0205 a0001c0005t0001g0006 a0001c0005t0001g0188 a0001c0005t0001g0189 a0001c0005t0001g0191 a0001c0005t0001g0193	9	264	0.0341	13	c.278 others(30): Show c.2780-167_2780-166insAAATATATATATA	CD163	ENSG00000177575.13	transcript	ENST00000432237.3	protein_coding	11/16			chr12	TogoVar
CD19_chr16_28926971_28944342	28929880	A A	AGAGAGAG others(6): Show AGAGAGAGGAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	396	0.0025	13	c.-21 others(24): Show c.-2121_-2120insGAGAGAGGAGAGC	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2090		chr16	TogoVar
CD1E_chr1_158348894_158362553	158350114	A A	ATATGTTT others(6): Show ATATGTTTTGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	434	0.0023	13	c.-38 others(24): Show c.-3875_-3874insTATGTTTTGAGAG	CD1E	ENSG00000158488.16	transcript	ENST00000368167.8	protein_coding		3779		chr1	TogoVar

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