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	26524955	C C	CTTTCTTT others(14): Show CTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00544.hp1 others(8): Show HG00280.hp2 HG00408.hp2 HG00544.hp1 HG01069.hp2 HG01978.hp1 HG02155.hp2 HG02630.hp1 HG03490.hp2 NA18939.hp2 NA18980.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0036 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0069 a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0002g0280 a0001c0001t0002g0313	11	127	0.0866	21	c.814 others(38): Show c.814-8481_814-8480insCTTTTTTTTTTTTTTTTTTTT	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(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	117	0.0085	21	c.814 others(38): Show c.814-8465_814-8464insTTTTTTTTTTTTTTTTTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1_chr11_6390125_6424094	6421867	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	377	0.0027	21	c.-28 others(32): Show c.-2898_-2897insAAAAAAAAAAAAAAAAAAAAA	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding		2774		chr11	TogoVar
APBB2_chr4_40805027_41219542	40982346	G G	GGAAGGAA others(14): Show GGAAGGAAAGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0028 a0002c0005t0028	a0002c0005t0028g0012 a0002c0005t0028g0012	1	176	0.0057	21	c.835 others(40): Show c.835+31236_835+31237insTTTTCTTTCTTTCTTTCCTTC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41155538	T T	TAGTCAAT others(14): Show TAGTCAATAAAATAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0031 a0002c0001t0031	a0002c0001t0031g0017 a0002c0001t0031g0017	1	190	0.0053	21	c.-41 others(42): Show c.-416-12417_-416-12397dupTCCTTCTTTATTTTATTGACT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(14): Show AAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 NA19030.hp2 HG03098.hp1 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0005 a0001c0003t0006 a0001c0004t0005 a0001c0003t0005 a0001c0003t0006 a0001c0004t0005	a0001c0003t0005g0131 a0001c0003t0006g0134 a0001c0004t0005g0163 a0001c0003t0005g0131 a0001c0003t0006g0134 a0001c0004t0005g0163	3	99	0.0303	21	c.-41 others(42): Show c.-416-16766_-416-16765insCCTTCTCCTTCTCCTTCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(14): Show AAGGAGAAGGAGAAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01192.hp1 HG00733.hp1 HG01192.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0052 a0001c0004t0013 a0001c0004t0052	a0001c0004t0013g0022 a0001c0004t0052g0093 a0001c0004t0013g0022 a0001c0004t0052g0093	2	98	0.0204	21	c.-41 others(42): Show c.-416-16766_-416-16765insCCTCCTCCTTCTCCTTCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159910	G G	GAGAAGGA others(14): Show GAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0047 a0002c0001t0047	a0002c0001t0047g0057 a0002c0001t0047g0057	1	177	0.0056	21	c.-41 others(42): Show c.-416-16769_-416-16768insTCTCCTTCTCCTTCTCCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159940	G G	GAGGAGGA others(14): Show GAGGAGGAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0178 a0001c0002t0019g0178	1	152	0.0066	21	c.-41 others(42): Show c.-416-16799_-416-16798insTCTCCTCCTCCTCCTCCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41160031	A A	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0092 a0001c0004t0021g0092	1	188	0.0053	21	c.-41 others(42): Show c.-416-16890_-416-16889insCTCTTCTTCTTCTTCTTCTTC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APC2_chr19_1445121_1478244	1446249	A A	AGGGGCGG others(14): Show AGGGGCGGGGCGCGGCGGGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02280.hp2 HG02451.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0004 a0002c0002 a0005c0004	a0002c0002t0044 a0005c0004t0003 a0002c0002t0044 a0005c0004t0003	a0002c0002t0044g0281 a0005c0004t0003g0168 a0002c0002t0044g0281 a0005c0004t0003g0168	2	348	0.0057	21	c.-41 others(32): Show c.-4108_-4107insGGGGCGGGGCGCGGCGGGTCC	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding		3871		chr19	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CCGGGGGG others(14): Show CCGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03041.hp1 HG03130.hp1 others(1): Show HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0009 a0004c0010 others(1): Show a0002c0002 a0004c0009 a0004c0010 a0004c0011	a0002c0002t0002 a0004c0009t0004 a0004c0010t0004 others(1): Show a0002c0002t0002 a0004c0009t0004 a0004c0010t0004 a0004c0011t0004	a0002c0002t0002g0066 a0004c0009t0004g0264 a0004c0010t0004g0061 others(1): Show a0002c0002t0002g0066 a0004c0009t0004g0264 a0004c0010t0004g0061 a0004c0011t0004g0278	4	118	0.0339	21	c.120 others(36): Show c.1208-70_1208-69insCGGGGGGGGGGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14			chr19	TogoVar
APCDD1L_chr20_58454101_58520399	58456235	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	187	0.0053	21	c.45 others(32): Show c.4554_*4555insAAAAAAAAAAAAAAAAAAAAA	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding		2865		chr20	TogoVar
APEH_chr3_49669351_49688971	49673087	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG02486.hp1 HG02572.hp1 others(3): Show HG01928.hp2 HG02486.hp1 HG02572.hp1 HG02886.hp1 HG03579.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	6	40	0.1500	21	c.-13 others(32): Show c.-1315_-1314insTTTTTTTTTTTTTTTTTTTTT	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		1263		chr3	TogoVar
APELA_chr4_164872178_164902527	164878196	A A	AAAAGAAA others(14): Show AAAAGAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	203	0.0049	21	c.77- others(34): Show c.77-717_77-716insAGAAAGAAAGAAAGAAAGAAA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APLF_chr2_68462585_68585162	68518543	A A	ATATCAAT others(14): Show ATATCAATAATGTATCATGAAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02293.hp1 HG02300.hp2 others(11): Show HG02129.hp1 HG02293.hp1 HG02300.hp2 HG02738.hp1 HG03942.hp2 NA18522.hp2 NA18943.hp2 NA18966.hp1 NA18978.hp1 NA19005.hp1 NA19058.hp1 NA19079.hp1 NA20752.hp1 NA20805.hp2	a0004 a0012 a0004 a0012	a0004c0004 a0012c0015 a0004c0004 a0012c0015	a0004c0004t0003 a0012c0015t0013 a0004c0004t0003 a0012c0015t0013	a0004c0004t0003g0009 a0004c0004t0003g0010 a0004c0004t0003g0011 others(11): Show a0004c0004t0003g0009 a0004c0004t0003g0010 a0004c0004t0003g0011 a0004c0004t0003g0012 a0004c0004t0003g0013 a0004c0004t0003g0014 a0004c0004t0003g0015 a0004c0004t0003g0016 a0004c0004t0003g0017 a0004c0004t0003g0018 a0004c0004t0003g0019 a0004c0004t0003g0020 a0004c0004t0003g0021 a0012c0015t0013g0164	14	174	0.0805	21	c.622 others(38): Show c.622+4863_622+4864insTATCAATAATGTATCATGAAT	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9			chr2	TogoVar
APLP2_chr11_130064894_130149805	130083026	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02647.hp1 HG02818.hp1 HG00735.hp2 HG02647.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0224 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0224	3	155	0.0194	21	c.105 others(40): Show c.105+12951_105+12971dupTTTTTTTTTTTTTTTTTTTTT	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APLP2_chr11_130064894_130149805	130135104	C C	CGTCTAGA others(14): Show CGTCTAGAGATGGGATGGACAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	272	0.0037	21	c.168 others(38): Show c.1685-458_1685-438dupGTCTAGAGATGGGATGGACAG	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOA1_chr11_116830751_116842622	116831244	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	443	0.0023	21	c.45 others(32): Show c.4563_*4564insGAAAGAAAGAAAGAAAGAAAG	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4506		chr11	TogoVar
APOA1_chr11_116830751_116842622	116842618	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01106.hp1 HG01255.hp2 others(9): Show HG00438.hp1 HG01106.hp1 HG01255.hp2 HG01346.hp1 HG02258.hp2 HG03195.hp2 HG03516.hp2 NA18960.hp1 NA18970.hp2 NA18974.hp1 NA19059.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0014 a0002c0002t0001g0006	12	188	0.0638	21	c.-50 others(32): Show c.-5035_-5034insAAAAAAAAAAAAAAAAAAAAA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4997		chr11	TogoVar
APOBEC3B_chr22_38977347_38997779	38988719	T T	TTCTCTCT others(14): Show TTCTCTCTTTCTCTCTTCTCTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	297	0.0034	21	c.570 others(36): Show c.570-735_570-734insCTCTTTCTCTCTTCTCTCTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOC3_chr11_116824907_116838072	116831244	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	445	0.0022	21	c.179 others(36): Show c.179+361_179+362insTTTCTTTCCTTTCTTTCTTTC	APOC3	ENSG00000110245.12	transcript	ENST00000227667.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOC3_chr11_116824907_116838072	116833886	G G	GATCAAAA others(14): Show GATCAAAAAACTGTGGCCCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	448	0.0022	21	c.10 others(32): Show c.1002_*1003insATCAAAAAACTGTGGCCCGGA	APOC3	ENSG00000110245.12	transcript	ENST00000227667.8	protein_coding		815		chr11	TogoVar
APOH_chr17_66207033_66234415	66221416	G G	GAAGGAAG others(14): Show GAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00673.hp1 others(43): Show HG00140.hp1 HG00408.hp2 HG00673.hp1 HG01070.hp1 HG01070.hp2 HG01109.hp2 HG01975.hp1 HG02055.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18951.hp1 NA18978.hp2 NA18993.hp1 NA19002.hp2 NA19009.hp1 NA19011.hp1 NA19085.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0014	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0014c0014	a0001c0001t0001 a0002c0002t0001 a0005c0005t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0005c0005t0002 a0014c0014t0001	a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0074 others(41): Show a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0001g0305 a0002c0002t0001g0104 a0002c0002t0001g0107 a0002c0002t0001g0110 a0002c0002t0001g0118 a0002c0002t0001g0119 a0005c0005t0002g0067 a0014c0014t0001g0252	46	156	0.2949	21	c.416 others(36): Show c.416-675_416-674insTCCTTCCTTCCTTCCTTCCTT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66224748	G G	GAAAGGAA others(14): Show GAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	382	0.0026	21	c.339 others(36): Show c.339-995_339-975dupTCCTTTCCTTTCCTTTCCTTT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOL5_chr22_35712872_35734483	35714583	A A	AGGGGCTC others(14): Show AGGGGCTCTCTGGCAGATGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	400	0.0025	21	c.-32 others(32): Show c.-3289_-3288insGGGGCTCTCTGGCAGATGGCT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		3288		chr22	TogoVar
APOOL_chrX_84998877_85098315	85038524	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0017 a0001c0001t0010g0017	1	49	0.0204	21	c.16- others(36): Show c.16-7916_16-7896dupTTTTTTTTTTTTTTTTTTTTT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOO_chrX_23828353_23912938	23829567	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	214	0.0047	21	c.40 others(32): Show c.4074_*4075insATATATATATATATATATATA	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3785		chrX	TogoVar
APOO_chrX_23828353_23912938	23829573	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	137	0.0073	21	c.40 others(32): Show c.4068_*4069insATATATATATATATATATATT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3779		chrX	TogoVar
APPL1_chr3_57222729_57278471	57262385	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG04115.hp1 NA18947.hp1 others(3): Show HG01516.hp2 HG04115.hp1 NA18947.hp1 NA18966.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0002g0137 a0001c0001t0002g0138 others(3): Show a0001c0001t0001g0041 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0178	6	8	0.7500	21	c.184 others(40): Show c.1842+1616_1842+1636dupTTTTTTTTTTTTTTTTTTTTT	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
AQP11_chr11_77584953_77615356	77596537	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18991.hp1 HG02895.hp2 NA18991.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0011 a0002c0002t0002g0003 a0001c0001t0001g0011 a0002c0002t0002g0003	2	190	0.0105	21	c.619 others(38): Show c.619+5926_619+5927insTATATATATATATATATATAT	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2			chr11	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	87	0.0115	21	c.246 others(40): Show c.2461-1415_2461-1414insATATATATATATTTTTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0033 a0001c0001t0027g0033	1	87	0.0115	21	c.246 others(40): Show c.2461-1415_2461-1414insATATATATATATATTTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	87	0.0115	21	c.246 others(40): Show c.2461-1415_2461-1414insATATATATATATATATTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
ARAP1_chr11_72680069_72757408	72709614	T T	TGGGCAAC others(14): Show TGGGCAACCCCTGAGCAGCATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	352	0.0028	21	c.152 others(38): Show c.1523+235_1523+255dupCATGCTGCTCAGGGGTTGCCC	ARAP1	ENSG00000186635.16	transcript	ENST00000393609.8	protein_coding	11/34			chr11	TogoVar
ARAP1_chr11_72680069_72757408	72755306	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0031 a0003c0005t0001g0031	1	188	0.0053	21	c.-31 others(32): Show c.-3127_-3107dupAAAAAAAAAAAAAAAAAAAAA	ARAP1	ENSG00000186635.16	transcript	ENST00000393609.8	protein_coding		2899		chr11	TogoVar
ARFGEF1_chr8_67192658_67348781	67218205	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	167	0.0060	21	c.433 others(36): Show c.4339-68_4339-67insATATATATATATATATATATA	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	30/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67244266	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0204 a0001c0003t0004g0204	1	201	0.0050	21	c.285 others(40): Show c.2851-3977_2851-3976insGTTTTGTTTTTTTTTTTTTTT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	19/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67339795	C C	CGGGGGGG others(14): Show CGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18960.hp2 HG02258.hp2 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0146 a0002c0004t0001g0179 a0001c0001t0001g0146 a0002c0004t0001g0179	2	23	0.0870	21	c.124 others(38): Show c.124+3368_124+3369insCCCCCCCCCCCCCCCCCCCCC	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	1/38			chr8	TogoVar
ARFGEF2_chr20_48916711_49041693	48950811	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0306 a0001c0002t0001g0306	1	165	0.0061	21	c.277 others(36): Show c.277-512_277-511insTATATATATATATATATATAT	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	3/38			chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48961083	T T	TATAATAA others(14): Show TATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02683.hp1 HG02896.hp1 others(11): Show HG00673.hp2 HG02683.hp1 HG02896.hp1 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG04228.hp2 NA18951.hp1 NA18977.hp2 NA19001.hp2 NA19012.hp1 NA19012.hp2 NA19074.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0009 a0001c0003t0001 a0001c0002t0001 a0001c0002t0009 a0001c0003t0001	a0001c0002t0001g0122 a0001c0002t0001g0282 a0001c0002t0001g0286 others(11): Show a0001c0002t0001g0122 a0001c0002t0001g0282 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0311 a0001c0002t0009g0290 a0001c0003t0001g0029 a0001c0003t0001g0031 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0079 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0101	14	210	0.0667	21	c.839 others(38): Show c.839-2738_839-2718dupAATAATAATAATAATAATAAT	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48963175	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01175.hp1 HG01257.hp2 others(17): Show HG00673.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01884.hp1 HG02015.hp2 HG02615.hp1 HG04115.hp2 NA18952.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18988.hp1 NA19000.hp1 NA19054.hp2 NA19060.hp2 NA19065.hp1 NA19083.hp2 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0006t0002	a0001c0001t0002g0198 a0001c0001t0002g0250 a0001c0001t0002g0255 others(17): Show a0001c0001t0002g0198 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0281 a0001c0001t0004g0324 a0001c0001t0004g0328 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0013g0322 a0001c0006t0002g0037 a0001c0006t0002g0038	20	226	0.0885	21	c.839 others(36): Show c.839-641_839-640insAAAAAAAAAAAAAAAAAAAAA	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF3_chr6_138156939_138349663	138205092	C C	CAGAGTAA others(14): Show CAGAGTAATATAGATAGGCGAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0030 a0002c0003t0002g0030	1	188	0.0053	21	c.138 others(38): Show c.138-1949_138-1929dupAGAGTAATATAGATAGGCGAA	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARFIP1_chr4_152774954_152917357	152795820	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	15	0.0667	21	c.-10 others(40): Show c.-10+15606_-10+15626dupTTTTTTTTTTTTTTTTTTTTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152808283	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01358.hp1 HG02083.hp2 others(9): Show HG00741.hp1 HG01358.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp2 HG03239.hp2 HG03710.hp2 NA18972.hp1 NA18980.hp1 NA18990.hp1 NA18999.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0090 others(9): Show a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0003g0179 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0261 a0001c0001t0003g0268	12	16	0.7500	21	c.-9- others(38): Show c.-9-21328_-9-21308dupTTTTTTTTTTTTTTTTTTTTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152839789	T T	TTTTGAAT others(14): Show TTTTGAATGATTCATCAGATCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	340	0.0029	21	c.93+ others(38): Show c.93+10064_93+10065insTTGAATGATTCATCAGATCAT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152847124	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18980.hp1 NA18999.hp1 HG02486.hp1 NA18980.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0002g0054 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0002g0054	3	89	0.0337	21	c.94- others(38): Show c.94-16478_94-16458dupTTTTTTTTTTTTTTTTTTTTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP10_chr4_147727088_148077776	148039368	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	44	0.0227	21	c.186 others(40): Show c.1868-7515_1868-7495dupTTTTTTTTTTTTTTTTTTTTT	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP12_chr10_31800398_31933831	31920449	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02630.hp2 HG01192.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0043 a0001c0001t0005g0069 a0001c0001t0005g0043 a0001c0001t0005g0069	2	139	0.0144	21	c.-11 others(40): Show c.-111+8213_-111+8233dupTTTTTTTTTTTTTTTTTTTTT	ARHGAP12	ENSG00000165322.18	transcript	ENST00000344936.7	protein_coding	1/19			chr10	TogoVar
ARHGAP15_chr2_143124419_143773352	143153843	T T	TTCCTCCT others(14): Show TTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG04115.hp1 HG03139.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0154 a0001c0001t0001g0100 a0001c0001t0001g0154	2	39	0.0513	21	c.-14 others(38): Show c.-14-1625_-14-1605dupCTCCTCCTCCTCCTCCTCCTC	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar

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