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
APBB1IP_chr10_26433341_26572803	26508583	G G	GCTAAATC others(21): Show GCTAAATCACATAACTGTGATTTAGCTTA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0206 a0011c0012t0001g0206	1	353	0.0028	28	c.532 others(45): Show c.532-3140_532-3113dupGCTTACTAAATCACATAACTGTGATTTA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26516543	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	26	0.0385	28	c.813 others(45): Show c.813+2901_813+2902insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524955	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02056.hp1 HG01243.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0166 a0001c0001t0001g0063 a0001c0001t0001g0166	2	118	0.0169	28	c.814 others(45): Show c.814-8465_814-8464insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB2_chr4_40805027_41219542	40851717	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0149 a0002c0005t0001g0149	1	178	0.0056	28	c.153 others(49): Show c.1530-21141_1530-21140insATATATATATATATATATATATAT ATAT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40964753	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp1 HG03490.hp2 others(6): Show HG00438.hp2 HG01109.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 NA18944.hp1 NA18999.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0004 a0001c0002t0017 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0017 a0002c0001t0001	a0001c0002t0001g0099 a0001c0002t0001g0109 a0001c0002t0001g0173 others(6): Show a0001c0002t0001g0099 a0001c0002t0001g0109 a0001c0002t0001g0173 a0001c0002t0001g0179 a0001c0002t0004g0028 a0001c0002t0017g0094 a0001c0002t0017g0095 a0002c0001t0001g0107 a0002c0001t0001g0135	9	15	0.6000	28	c.836 others(47): Show c.836-19681_836-19680insGTGTGTGTGTGTGTGTGTGTGTGTGT GT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982293	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0159 a0001c0003t0001g0159	1	157	0.0064	28	c.835 others(47): Show c.835+31289_835+31290insTTTCTTTCTTTCTTTCTTTCTTTCTT TC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CCGGGGGG others(21): Show CCGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0060 a0005c0060	a0005c0060t0021 a0005c0060t0021	a0005c0060t0021g0060 a0005c0060t0021g0060	1	115	0.0087	28	c.120 others(43): Show c.1208-70_1208-69insCGGGGGGGGGGGGGGGGGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14			chr19	TogoVar
APCDD1L_chr20_58454101_58520399	58478361	C C	CTCCTTCC others(21): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0049 a0004c0004t0049	a0004c0004t0049g0162 a0004c0004t0049g0162	1	139	0.0072	28	c.50- others(43): Show c.50-7615_50-7614insAGGAAGGAAGGAAGGAAGGAAGGAAGGA	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding	1/3			chr20	TogoVar
APCS_chr1_159582826_159593865	159593117	A A	AGAGATTC others(21): Show AGAGATTCTCTCTCTTTTCCTCCTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	28	c.44 others(39): Show c.4409_*4410insGAGATTCTCTCTCTTTTCCTCCTCCTCC	APCS	ENSG00000132703.4	transcript	ENST00000255040.3	protein_coding		4253		chr1	TogoVar
APELA_chr4_164872178_164902527	164878196	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01099.hp1 others(23): Show HG00597.hp1 HG00597.hp2 HG01099.hp1 HG01123.hp2 HG02027.hp2 HG02129.hp1 HG02258.hp2 HG02280.hp1 HG02683.hp2 HG03130.hp1 HG03139.hp1 HG03486.hp2 HG03669.hp2 HG04115.hp1 NA18940.hp1 NA18947.hp2 NA18950.hp2 NA18964.hp2 NA18988.hp1 NA19000.hp1 NA19054.hp1 NA19060.hp1 NA19068.hp2 NA19072.hp2 NA19086.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 a0001c0002t0001 a0001c0002t0005 a0001c0004t0013	a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0047 others(17): Show a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0030g0101 a0001c0002t0001g0179 a0001c0002t0001g0191 a0001c0002t0005g0192 a0001c0004t0013g0099 a0001c0004t0013g0100	26	228	0.1140	28	c.77- others(41): Show c.77-697_77-696insGAAAGAAAGAAAGAAAGAAAGAAAGAAA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APELA_chr4_164872178_164902527	164884121	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp1 HG01884.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0027 a0001c0002t0001 a0001c0002t0027	a0001c0002t0001g0001 a0001c0002t0027g0161 a0001c0002t0001g0001 a0001c0002t0027g0161	2	145	0.0138	28	c.1+ others(43): Show c.1+5123_*1+5150dupAAAGAAAGAAAGAAAGAAAGAAAGAAAG	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APLF_chr2_68462585_68585162	68517224	A A	AAATATAT others(21): Show AAATATATTAATATATGTCATTACTATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03130.hp2 HG00738.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0091 a0001c0001t0001g0098	2	106	0.0189	28	c.622 others(45): Show c.622+3644_622+3671dupGTCATTACTATATAATATATTAATATAT	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APLF_chr2_68462585_68585162	68518993	G G	GATAATAT others(21): Show GATAATATATTATTAATATATAATAATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG02257.hp1 others(10): Show HG00738.hp1 HG01192.hp1 HG02257.hp1 HG02615.hp2 HG02965.hp1 HG02970.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp2 HG03834.hp2 NA18906.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0005 a0003c0003t0004 a0003c0003t0005	a0003c0003t0004g0119 a0003c0003t0004g0120 a0003c0003t0004g0121 others(10): Show a0003c0003t0004g0119 a0003c0003t0004g0120 a0003c0003t0004g0121 a0003c0003t0004g0122 a0003c0003t0004g0123 a0003c0003t0004g0124 a0003c0003t0004g0125 a0003c0003t0004g0150 a0003c0003t0005g0128 a0003c0003t0005g0129 a0003c0003t0005g0130 a0003c0003t0005g0132 a0003c0003t0005g0133	13	168	0.0774	28	c.622 others(45): Show c.622+5323_622+5350dupTATTAATATATAATAATATATAATATAT	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APLF_chr2_68462585_68585162	68525742	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0001 a0002c0002t0007g0001	2	59	0.0339	28	c.623 others(43): Show c.623-294_623-293insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APOA4_chr11_116815700_116828304	116818630	A A	ATATATAT others(21): Show ATATATATATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	1	281	0.0036	28	c.22 others(39): Show c.2236_*2237insAAAAAAAAAAAAAAAAAAAATATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2069		chr11	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18941.hp2 HG02723.hp2 NA18941.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0114 a0002c0001t0001g0105 a0001c0003t0001g0114 a0002c0001t0001g0105	2	99	0.0202	28	c.16+ others(43): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTCTTTCCTTCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAC others(21): Show GGAAGGACAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0378 a0002c0001t0001g0378	1	98	0.0102	28	c.16+ others(43): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTCTTTCTGTCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC3C_chr22_39009257_39025352	39016189	C C	CTTTATTT others(21): Show CTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01069.hp1 others(27): Show HG00140.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01361.hp1 HG01975.hp2 HG01978.hp1 HG02129.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp2 HG02717.hp1 HG03017.hp2 NA18747.hp2 NA18956.hp1 NA18961.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA19004.hp2 NA19063.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0027 a0001c0001t0032 a0001c0001t0065 a0001c0001t0078	a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 others(16): Show a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0078 a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0090 a0001c0001t0004g0010 a0001c0001t0004g0062 a0001c0001t0009g0007 a0001c0001t0013g0007 a0001c0001t0015g0115 a0001c0001t0016g0007 a0001c0001t0027g0011 a0001c0001t0032g0061 a0001c0001t0065g0007 a0001c0001t0078g0058	30	299	0.1003	28	c.174 others(43): Show c.174+438_174+439insTTTATTTATTTATTTATTTATTTATTTA	APOBEC3C	ENSG00000244509.4	transcript	ENST00000361441.5	protein_coding	2/3			chr22	TogoVar
APOBEC3C_chr22_39009257_39025352	39016190	A A	ATTATTTA others(21): Show ATTATTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02486.hp1 others(8): Show HG01243.hp1 HG02109.hp1 HG02486.hp1 HG02717.hp2 HG02818.hp2 HG02922.hp1 HG03130.hp1 HG03225.hp1 NA19043.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0023 a0001c0001t0030 others(4): Show a0001c0001t0015 a0001c0001t0023 a0001c0001t0030 a0001c0001t0035 a0001c0001t0044 a0001c0001t0054 a0001c0001t0059	a0001c0001t0015g0044 a0001c0001t0015g0083 a0001c0001t0023g0027 others(7): Show a0001c0001t0015g0044 a0001c0001t0015g0083 a0001c0001t0023g0027 a0001c0001t0023g0044 a0001c0001t0023g0113 a0001c0001t0030g0027 a0001c0001t0035g0110 a0001c0001t0044g0086 a0001c0001t0054g0116 a0001c0001t0059g0108	11	175	0.0629	28	c.174 others(43): Show c.174+465_174+466insATTTATTTATTTATTTATTTATTTATTT	APOBEC3C	ENSG00000244509.4	transcript	ENST00000361441.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3C_chr22_39009257_39025352	39023107	C C	CTATTTAT others(21): Show CTATTTATTTATTTATTTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0074 a0001c0001t0013g0074	1	75	0.0133	28	c.47 others(39): Show c.4720_*4721insTATTTATTTATTTATTTATTTATTTATT	APOBEC3C	ENSG00000244509.4	transcript	ENST00000361441.5	protein_coding		2756		chr22	TogoVar
APOBEC3D_chr22_39016127_39038277	39016189	C C	CTTTATTT others(21): Show CTTTATTTATTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01069.hp1 others(28): Show HG00140.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01361.hp1 HG01975.hp2 HG01978.hp1 HG02129.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02717.hp2 HG03017.hp2 NA18747.hp2 NA18956.hp1 NA18961.hp1 NA18984.hp1 NA18984.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19004.hp2 NA19063.hp1 NA19077.hp2 NA19087.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0032	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0005g0012 a0001c0001t0006g0001 a0001c0001t0006g0091 a0001c0001t0032g0037	31	299	0.1037	28	c.-53 others(39): Show c.-5331_-5330insTTTATTTATTTATTTATTTATTTATTTA	APOBEC3D	ENSG00000243811.12	transcript	ENST00000216099.13	protein_coding		4937		chr22	TogoVar
APOBEC3D_chr22_39016127_39038277	39016190	A A	ATTATTTA others(21): Show ATTATTTATTTATTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01934.hp1 HG02109.hp1 others(9): Show HG01243.hp1 HG01934.hp1 HG02109.hp1 HG02486.hp2 HG02717.hp1 HG02818.hp1 HG02922.hp2 HG03130.hp1 HG03225.hp1 NA19043.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0005 a0001c0001 a0001c0006 a0002c0005	a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 others(2): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0006t0019 a0002c0005t0005	a0001c0001t0005g0025 a0001c0001t0005g0054 a0001c0001t0005g0184 others(5): Show a0001c0001t0005g0025 a0001c0001t0005g0054 a0001c0001t0005g0184 a0001c0001t0005g0186 a0001c0001t0008g0140 a0001c0001t0019g0012 a0001c0006t0019g0012 a0002c0005t0005g0183	12	173	0.0694	28	c.-53 others(39): Show c.-5330_-5329insTTATTTATTTATTTATTTATTTATTTAT	APOBEC3D	ENSG00000243811.12	transcript	ENST00000216099.13	protein_coding		4936		chr22	TogoVar
APOBEC3D_chr22_39016127_39038277	39023107	C C	CTATTTAT others(21): Show CTATTTATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	76	0.0132	28	c.210 others(43): Show c.210+118_210+119insATTTATTTATTTATTTATTTATTTATTT	APOBEC3D	ENSG00000243811.12	transcript	ENST00000216099.13	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOF_chr12_56355568_56367857	56363237	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	259	0.0039	28	c.-49 others(37): Show c.-493_-492insGTGTGTATATATATATATATATATATAT	APOF	ENSG00000175336.10	transcript	ENST00000398189.4	protein_coding		381		chr12	TogoVar
APOL3_chr22_36135329_36165755	36145972	G G	GTCTCCCT others(21): Show GTCTCCCTGTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	220	0.0045	28	c.11- others(41): Show c.11-374_11-373insGAGAGAGAGAGAGAGAGAGACAGGGAGA	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding	2/3			chr22	TogoVar
APOL3_chr22_36135329_36165755	36145972	G G	GTCTCCCT others(21): Show GTCTCCCTGTCTCTCTTTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG02071.hp1 others(8): Show HG00558.hp1 HG00673.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG03834.hp1 NA18977.hp1 NA18985.hp1 NA18991.hp1 NA19010.hp1 NA19080.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0010 a0001c0001 a0001c0002 a0006c0010	a0001c0001t0001 a0001c0002t0001 a0006c0010t0001 a0001c0001t0001 a0001c0002t0001 a0006c0010t0001	a0001c0001t0001g0132 a0001c0002t0001g0019 a0001c0002t0001g0072 others(6): Show a0001c0001t0001g0132 a0001c0002t0001g0019 a0001c0002t0001g0072 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0095 a0001c0002t0001g0130 a0001c0002t0001g0163 a0006c0010t0001g0119	11	230	0.0478	28	c.11- others(41): Show c.11-374_11-373insGAGAGAGAGAGAAAGAGAGACAGGGAGA	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding	2/3			chr22	TogoVar
APOL5_chr22_35712872_35734483	35716202	C C	CTGTACAA others(21): Show CTGTACAAGTGGGAGATTTTATGATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	400	0.0025	28	c.-16 others(39): Show c.-1670_-1669insTGTACAAGTGGGAGATTTTATGATAAAA	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		1669		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	34	0.0294	28	c.-63 others(37): Show c.-637_-636insAAAAAAAAAAAAAAAAAAATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01257.hp2 HG01358.hp2 others(2): Show HG01109.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0030 a0002c0002t0001g0113 others(1): Show a0002c0002t0001g0001 a0002c0002t0001g0030 a0002c0002t0001g0113 a0002c0002t0001g0124	5	38	0.1316	28	c.-63 others(37): Show c.-637_-636insAAAAAAAAAAAAAAAAATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	34	0.0294	28	c.-63 others(37): Show c.-637_-636insAAAAAAAAAAATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOM_chr6_31650894_31663210	31652320	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	146	0.0068	28	c.-36 others(39): Show c.-3647_-3646insACACACACACACACACACACACACACAC	APOM	ENSG00000204444.11	transcript	ENST00000375916.4	protein_coding		3573		chr6	TogoVar
APOOL_chrX_84998877_85098315	85076995	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0226	1	170	0.0059	28	c.718 others(45): Show c.718+2626_718+2627insTATATATATATATATATATATATATATA	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOO_chrX_23828353_23912938	23829573	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	137	0.0073	28	c.40 others(39): Show c.4068_*4069insATATATATATATATATATATATATATAT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3779		chrX	TogoVar
APOO_chrX_23828353_23912938	23849583	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0263 a0001c0001t0003g0263	1	65	0.0154	28	c.561 others(45): Show c.561+6718_561+6719insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	7/8			chrX	TogoVar
APPBP2_chr17_60438158_60531242	60438834	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0006 a0002c0003t0008g0006	1	52	0.0192	28	c.87 others(39): Show c.8746_*8747insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding		4323		chr17	TogoVar
APPBP2_chr17_60438158_60531242	60518503	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0045 a0001c0001t0034g0045	1	76	0.0132	28	c.138 others(45): Show c.138+7290_138+7291insACACACACACACACACACACACACACAC	APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	1/12			chr17	TogoVar
APPL1_chr3_57222729_57278471	57262385	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	3	0.3333	28	c.184 others(47): Show c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
AQP11_chr11_77584953_77615356	77596537	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01993.hp1 HG02976.hp1 others(5): Show HG01358.hp2 HG01993.hp1 HG02976.hp1 HG02976.hp2 HG03490.hp2 HG03492.hp1 HG03704.hp2 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0013 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0117 a0002c0002t0002g0012	8	196	0.0408	28	c.619 others(45): Show c.619+5952_619+5953insATATATATATATATATATATATATATAT	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
AQP11_chr11_77584953_77615356	77596537	A A	AATATATA others(21): Show AATATATATGTAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0059 a0001c0004t0001g0059	1	189	0.0053	28	c.619 others(45): Show c.619+5934_619+5935insGTAAATATATATATATATATATATATAT	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
AQP1_chr7_30906853_30930516	30927172	C C	CTGGCATC others(21): Show CTGGCATCTGGAGAAGCCTGTTCATTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02622.hp1 HG03130.hp2 others(1): Show HG01109.hp2 HG02622.hp1 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0002g0069 a0001c0001t0005g0071 a0001c0001t0008g0058 a0001c0001t0002g0069 a0001c0001t0005g0071 a0001c0001t0008g0058	4	302	0.0132	28	c.35 others(39): Show c.3543_*3544insTGGCATCTGGAGAAGCCTGTTCATTCCA	AQP1	ENSG00000240583.14	transcript	ENST00000311813.11	protein_coding		1657		chr7	TogoVar
AQP8_chr16_25211947_25233932	25216215	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	250	0.0040	28	c.-83 others(37): Show c.-831_-830insTCTTTCTTTCTCTTTCTTTCTTTCTTTC	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		731		chr16	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	87	0.0115	28	c.246 others(47): Show c.2461-1415_2461-1414insATATATATATATATATATATATTTTT TT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
ARAP2_chr4_36061004_36249514	36156389	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	262	0.0038	28	c.275 others(47): Show c.2752+2313_2752+2340dupTTCTTTCTTTCTTTCTTTCTTTCTTT CT	ARAP2	ENSG00000047365.13	transcript	ENST00000303965.9	protein_coding	15/32			chr4	TogoVar
ARCN1_chr11_118567409_118608033	118581929	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	277	0.0036	28	c.267 others(43): Show c.267+423_267+424insCACACACACACACACACACACACACACA	ARCN1	ENSG00000095139.15	transcript	ENST00000264028.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARFGEF1_chr8_67192658_67348781	67222190	T T	TATATACA others(21): Show TATATACACACACATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	194	0.0052	28	c.420 others(47): Show c.4209-2631_4209-2630insGTGTATATATATATATGTGTGTGTAT AT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	29/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67222190	T T	TATATATA others(21): Show TATATATACACACATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	194	0.0052	28	c.420 others(47): Show c.4209-2631_4209-2630insGTGTATATATATATATGTGTGTATAT AT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	29/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67339795	C C	CGGGGGGG others(21): Show CGGGGGGGGGGGGGGGGGGGGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	22	0.0455	28	c.124 others(45): Show c.124+3368_124+3369insCCCTCCCCCCCCCCCCCCCCCCCCCCCC	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	1/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67339795	C C	CGGGGGGG others(21): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	22	0.0455	28	c.124 others(45): Show c.124+3368_124+3369insCCCCCCCCCCCCCCCCCCCCCCCCCCCC	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	1/38			chr8	TogoVar
ARFGEF2_chr20_48916711_49041693	48963175	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	207	0.0048	28	c.839 others(43): Show c.839-641_839-640insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFIP1_chr4_152774954_152917357	152795820	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0337 a0001c0002t0002g0337	1	15	0.0667	28	c.-10 others(47): Show c.-10+15599_-10+15626dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar

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