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
ACRV1_chr11_125666522_125685847	125678978	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	60	0.0167	23	c.53- others(36): Show c.53-682_53-681insTATATATATATATATATATATAT	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACSBG2_chr19_6130667_6198091	6166280	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	37	0.0270	23	c.738 others(38): Show c.738+265_738+266insGTGTGTGTGTGTGTGTGTGTGTG	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/14			chr19	TogoVar
ACSF3_chr16_89088852_89161233	89147252	T T	TCACAGAG others(16): Show TCACAGAGTGAGGGGGGGAGGGGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(78): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02738.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18952.hp1 NA18954.hp1 NA18961.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0010 a0012	a0001c0001 a0002c0002 a0002c0003 others(6): Show a0001c0001 a0002c0002 a0002c0003 a0003c0006 a0003c0007 a0005c0009 a0006c0012 a0010c0024 a0012c0022	a0001c0001t0014 a0001c0001t0015 a0002c0002t0004 others(18): Show a0001c0001t0014 a0001c0001t0015 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0013 a0002c0002t0018 a0002c0002t0042 a0002c0002t0053 a0002c0002t0054 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0003c0006t0007 a0003c0006t0046 a0003c0006t0057 a0003c0007t0007 a0005c0009t0014 a0006c0012t0006 a0010c0024t0004 a0012c0022t0007	a0001c0001t0014g0105 a0001c0001t0015g0236 a0001c0001t0015g0237 others(76): Show a0001c0001t0014g0105 a0001c0001t0015g0236 a0001c0001t0015g0237 a0002c0002t0004g0123 a0002c0002t0004g0124 a0002c0002t0004g0126 a0002c0002t0004g0129 a0002c0002t0004g0136 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0149 a0002c0002t0004g0150 a0002c0002t0004g0198 a0002c0002t0004g0199 a0002c0002t0004g0211 a0002c0002t0004g0220 a0002c0002t0004g0221 a0002c0002t0004g0223 a0002c0002t0004g0339 a0002c0002t0004g0340 a0002c0002t0004g0349 a0002c0002t0006g0070 a0002c0002t0006g0071 a0002c0002t0006g0113 a0002c0002t0006g0117 a0002c0002t0006g0137 a0002c0002t0006g0138 a0002c0002t0006g0140 a0002c0002t0006g0141 a0002c0002t0006g0151 a0002c0002t0006g0152 a0002c0002t0006g0154 a0002c0002t0006g0200 a0002c0002t0006g0207 a0002c0002t0006g0208 a0002c0002t0006g0209 a0002c0002t0006g0210 a0002c0002t0007g0114 a0002c0002t0013g0006 a0002c0002t0013g0146 a0002c0002t0018g0206 a0002c0002t0042g0128 a0002c0002t0053g0144 a0002c0002t0054g0127 a0002c0003t0004g0023 a0002c0003t0004g0025 a0002c0003t0004g0066 a0002c0003t0004g0067 a0002c0003t0004g0101 a0002c0003t0005g0081 a0002c0003t0006g0024 a0003c0006t0007g0005 a0003c0006t0007g0022 a0003c0006t0007g0049 a0003c0006t0007g0055 a0003c0006t0007g0056 a0003c0006t0007g0058 a0003c0006t0007g0059 a0003c0006t0007g0060 a0003c0006t0007g0062 a0003c0006t0007g0072 a0003c0006t0007g0073 a0003c0006t0007g0074 a0003c0006t0007g0111 a0003c0006t0046g0061 a0003c0006t0057g0338 a0003c0007t0007g0051 a0003c0007t0007g0052 a0003c0007t0007g0054 a0003c0007t0007g0069 a0003c0007t0007g0097 a0003c0007t0007g0098 a0003c0007t0007g0099 a0005c0009t0014g0253 a0006c0012t0006g0201 a0006c0012t0006g0202 a0006c0012t0006g0203 a0010c0024t0004g0122 a0012c0022t0007g0068	81	303	0.2673	23	c.161 others(42): Show c.1613+1214_1613+1215insGGGGGGAGGGGCCACAGAGTGAG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89160341	C C	CCCCGAAG others(16): Show CCCCGAAGACCCCCCGCTTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02015.hp1 HG02615.hp2 others(4): Show HG01891.hp1 HG02015.hp1 HG02615.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 NA18906.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0012 a0008c0016t0002 a0001c0001t0012 a0008c0016t0002	a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0012g0047 others(4): Show a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0012g0047 a0001c0001t0012g0048 a0001c0001t0012g0110 a0001c0001t0012g0268 a0008c0016t0002g0167	7	331	0.0211	23	c.61 others(34): Show c.6134_*6135insCCCGAAGACCCCCCGCTTCCTCA	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		4109		chr16	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	27	0.0370	23	c.159 others(40): Show c.1593+781_1593+782insATATATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18995.hp1 HG02683.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0232 a0001c0001t0001g0010 a0001c0001t0001g0232	2	28	0.0714	23	c.159 others(40): Show c.1593+780_1593+781insTATATATATATATATATATATAT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20			chr10	TogoVar
ACSM2B_chr16_20531226_20581367	20566700	A A	ATATATAC others(16): Show ATATATACTATATATAGTATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0098 a0004c0005t0006g0098	1	157	0.0064	23	c.-8- others(38): Show c.-8-1848_-8-1847insGTATATACTATATATAGTATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACTL8_chr1_17750333_17832063	17800583	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG02280.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0003 a0001c0001t0008 a0001c0003t0003	a0001c0001t0008g0019 a0001c0003t0003g0352 a0001c0001t0008g0019 a0001c0003t0003g0352	2	128	0.0156	23	c.-24 others(42): Show c.-24-22397_-24-22375dupTTTTTTTTTTTTTTTTTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17812427	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02258.hp2 HG01070.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0323 a0001c0005t0001g0330 a0001c0005t0001g0323 a0001c0005t0001g0330	2	240	0.0083	23	c.-24 others(42): Show c.-24-10538_-24-10537insTTTTTTTTTTTTTTTTTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(16): Show GGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18973.hp1 NA18989.hp1 others(2): Show HG02027.hp2 NA18973.hp1 NA18989.hp1 NA18989.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0269 a0001c0001t0001g0320 a0001c0001t0001g0326 others(2): Show a0001c0001t0001g0269 a0001c0001t0001g0320 a0001c0001t0001g0326 a0001c0001t0003g0205 a0001c0001t0003g0248	5	136	0.0368	23	c.448 others(38): Show c.448+824_448+825insGTTTTTTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236758289	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02922.hp1 HG01169.hp2 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0015 a0001c0004 a0001c0015	a0001c0004t0005 a0001c0015t0016 a0001c0004t0005 a0001c0015t0016	a0001c0004t0005g0195 a0001c0015t0016g0116 a0001c0004t0005g0195 a0001c0015t0016g0116	2	189	0.0106	23	c.230 others(40): Show c.2301+669_2301+670insTTTTTTTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38735549	A A	AAATTACA others(16): Show AAATTACAGATGGGAAGTGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0104 a0001c0001t0009g0104	1	312	0.0032	23	c.61 others(34): Show c.6117_*6118insAATTACAGATGGGAAGTGGGGAG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		3961		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735614	C C	CAGGTGAG others(16): Show CAGGTGAGGAATCGCGTGGGGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0289 a0001c0001t0014g0289	1	312	0.0032	23	c.61 others(34): Show c.6182_*6183insAGGTGAGGAATCGCGTGGGGTCT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4026		chr19	TogoVar
ACTR5_chr20_38743460_38777520	38761533	T T	TGAGGGTG others(16): Show TGAGGGTGATCTGGCTGCGATATC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0102 a0010c0012t0001g0102	1	364	0.0027	23	c.117 others(42): Show c.1177-3868_1177-3846dupGAGGGTGATCTGGCTGCGATATC	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACTRT3_chr3_169761921_169774561	169770988	A A	AATAAAAA others(16): Show AATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG03130.hp2 HG01167.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	402	0.0050	23	c.-14 others(34): Show c.-1469_-1468insGATATATAAATATAAATTTTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1428		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771019	A A	AATAAAAA others(16): Show AATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	404	0.0025	23	c.-15 others(34): Show c.-1500_-1499insGATATATAAATATAAATTTTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1459		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771050	A A	AATAAAAA others(16): Show AATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG01255.hp2 HG02896.hp1 HG02897.hp1 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	4	410	0.0098	23	c.-15 others(34): Show c.-1531_-1530insGATATATAAATATAAATTTTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1490		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771173	A A	ATATAAAA others(16): Show ATATAAAAATTTATATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	412	0.0024	23	c.-16 others(34): Show c.-1654_-1653insATATATAAATATAAATTTTTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1613		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771204	A A	ATATAAAA others(16): Show ATATAAAAATTTATATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG03491.hp2 NA18952.hp2 HG01071.hp2 HG03491.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	416	0.0072	23	c.-16 others(34): Show c.-1685_-1684insATATATAAATATAAATTTTTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1644		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771235	A A	ATATAAAA others(16): Show ATATAAAAATTTATATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG03471.hp1 HG01099.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0008 a0001c0001t0001g0001 a0002c0002t0001g0008	2	409	0.0049	23	c.-17 others(34): Show c.-1716_-1715insATATATAAATATAAATTTTTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1675		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771235	A A	ATATAAAA others(16): Show ATATAAAAATTTATGTTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02897.hp2 HG02818.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0047 a0002c0002t0001g0008 a0002c0002t0001g0047	2	409	0.0049	23	c.-17 others(34): Show c.-1716_-1715insATATATAAACATAAATTTTTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1675		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771266	A A	ATATAAAA others(16): Show ATATAAAAATTTATATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02040.hp2 NA18953.hp1 others(5): Show HG00423.hp2 HG02040.hp2 NA18953.hp1 NA18977.hp1 NA19063.hp2 NA19075.hp1 NA19078.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0001 a0001c0001t0001g0038	8	406	0.0197	23	c.-17 others(34): Show c.-1747_-1746insATATATAAATATAAATTTTTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1706		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771267	A A	AATAAAAA others(16): Show AATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	23	c.-17 others(34): Show c.-1748_-1747insGATATATAAATATAAATTTTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1707		chr3	TogoVar
ACVR2A_chr2_147840029_147935822	147845000	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0276 a0001c0001t0021g0276	1	59	0.0169	23	c.-15 others(32): Show c.-153_-152insTTTTTTTTTTTTTTTTTTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		28		chr2	TogoVar
ACVRL1_chr12_51902504_51928361	51927705	C C	CTGGAGTA others(16): Show CTGGAGTACAGTGGTGTGATCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	436	0.0023	23	c.68 others(34): Show c.6812_*6813insTGGAGTACAGTGGTGTGATCTCA	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding		4345		chr12	TogoVar
ACY1_chr3_51978535_51994197	51981894	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	44	0.0227	23	c.-17 others(34): Show c.-1714_-1713insAAAAAAAAAAAAAAAAAAAAAAA	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding		1640		chr3	TogoVar
ACYP2_chr2_53966113_54310300	54035009	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01928.hp1 HG00323.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0117 a0001c0002t0002g0022 a0001c0001t0001g0117 a0001c0002t0002g0022	2	86	0.0233	23	c.63- others(40): Show c.63-15948_63-15926dupAAAAAAAAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54177569	A A	ACAAAGAT others(16): Show ACAAAGATGAACTGAAATCATTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01109.hp2 others(47): Show HG00099.hp1 HG00738.hp2 HG01109.hp2 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02109.hp2 HG02257.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03704.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18951.hp2 NA18973.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0015 a0001c0002t0016 a0003c0004t0007	a0001c0001t0001g0105 a0001c0001t0001g0150 a0001c0001t0001g0154 others(47): Show a0001c0001t0001g0105 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0171 a0001c0001t0001g0209 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0250 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0004g0245 a0001c0001t0010g0220 a0001c0001t0011g0161 a0001c0001t0012g0265 a0001c0002t0001g0072 a0001c0002t0001g0123 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0003g0074 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0092 a0001c0002t0003g0094 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0098 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0009g0091 a0001c0002t0009g0093 a0001c0002t0015g0075 a0001c0002t0016g0054 a0003c0004t0007g0005 a0003c0004t0007g0006	50	270	0.1852	23	c.404 others(42): Show c.404+38822_404+38823insAAAGATGAACTGAAATCATTTCC	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17188863	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01074.hp1 others(25): Show HG00642.hp2 HG00735.hp1 HG01074.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01934.hp2 HG01981.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG03130.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp2 NA18977.hp1 NA18985.hp2 NA18998.hp2 NA19030.hp1 NA19054.hp2 NA19060.hp1 NA19066.hp1 NA19079.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0003t0001 a0001c0003t0008 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0004t0027 a0001c0005t0002 a0001c0005t0006 a0001c0005t0018 a0001c0006t0002	a0001c0001t0001g0115 a0001c0001t0001g0231 a0001c0001t0001g0310 others(25): Show a0001c0001t0001g0115 a0001c0001t0001g0231 a0001c0001t0001g0310 a0001c0001t0004g0369 a0001c0001t0010g0206 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0008g0332 a0001c0004t0002g0028 a0001c0004t0002g0032 a0001c0004t0002g0058 a0001c0004t0002g0194 a0001c0004t0002g0198 a0001c0004t0002g0199 a0001c0004t0002g0246 a0001c0004t0004g0349 a0001c0004t0004g0350 a0001c0004t0006g0375 a0001c0004t0006g0379 a0001c0004t0027g0021 a0001c0005t0002g0228 a0001c0005t0002g0300 a0001c0005t0002g0313 a0001c0005t0006g0323 a0001c0005t0006g0344 a0001c0005t0006g0384 a0001c0005t0018g0029 a0001c0006t0002g0139	28	217	0.1290	23	c.973 others(38): Show c.973-417_973-416insTTTTTTTTTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03540.hp1 HG01109.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0025 a0001c0002t0003g0304 a0001c0001t0001g0025 a0001c0002t0003g0304	2	300	0.0067	23	c.973 others(38): Show c.973-422_973-421insATATTTTTTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03195.hp2 HG02451.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0281 a0001c0001t0001g0059 a0001c0001t0001g0281	2	300	0.0067	23	c.973 others(38): Show c.973-422_973-421insATATATTTTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAD2_chr16_84186157_84202166	84197207	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0003 a0003c0001t0001g0003	1	468	0.0021	23	c.23 others(32): Show c.233_*234insGTGTGTGTGTGTGTGTGTGTGTG	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding		42		chr16	TogoVar
ADAL_chr15_43325672_43359569	43334664	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03491.hp2 HG01169.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0082 a0001c0002t0001g0083	2	374	0.0053	23	c.-16 others(40): Show c.-163-281_-163-280insATATATATATATATATATATATA	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/12			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647248	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0323 a0001c0001t0061g0323	1	8	0.1250	23	c.586 others(40): Show c.586-1067_586-1045dupAAAAAAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126086672	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0046 a0004c0046	a0004c0046t0003 a0004c0046t0003	a0004c0046t0003g0160 a0004c0046t0003g0160	1	243	0.0041	23	c.114 others(42): Show c.1145+7312_1145+7313insATATATATATATATATATATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086678	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0134 a0001c0009t0013g0134	1	190	0.0053	23	c.114 others(42): Show c.1145+7306_1145+7307insATATATATATATATATATATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02976.hp1 others(1): Show HG02257.hp2 HG02622.hp2 HG02976.hp1 NA20752.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0004 a0001c0008 others(1): Show a0001c0002 a0001c0004 a0001c0008 a0009c0039	a0001c0002t0009 a0001c0004t0002 a0001c0008t0002 others(1): Show a0001c0002t0009 a0001c0004t0002 a0001c0008t0002 a0009c0039t0006	a0001c0002t0009g0123 a0001c0004t0002g0131 a0001c0008t0002g0220 others(1): Show a0001c0002t0009g0123 a0001c0004t0002g0131 a0001c0008t0002g0220 a0009c0039t0006g0210	4	68	0.0588	23	c.114 others(42): Show c.1145+7304_1145+7305insATATATATATATATATATTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03041.hp1 HG03471.hp1 HG02109.hp1 HG03041.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0001 a0001c0002 a0001c0012 a0002c0001	a0001c0002t0011 a0001c0012t0012 a0002c0001t0008 a0001c0002t0011 a0001c0012t0012 a0002c0001t0008	a0001c0002t0011g0150 a0001c0012t0012g0205 a0002c0001t0008g0041 a0001c0002t0011g0150 a0001c0012t0012g0205 a0002c0001t0008g0041	3	67	0.0448	23	c.114 others(42): Show c.1145+7304_1145+7305insATATATATATATATATATATTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113687	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0226 a0001c0003t0004g0226	1	133	0.0075	23	c.604 others(40): Show c.604-3848_604-3847insATATATATATATATATTTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126121167	A A	ATATATAG others(16): Show ATATATAGTATATACTATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0244 a0001c0003t0004g0244	1	143	0.0070	23	c.417 others(40): Show c.417-2944_417-2943insGTATATATAGTATATACTATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM20_chr14_70517358_70540004	70536465	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	36	0.0278	23	c.-18 others(34): Show c.-1846_-1845insTTTTTTTTTTTTTTTTTTTTTTT	ADAM20	ENSG00000134007.5	transcript	ENST00000256389.5	protein_coding		1462		chr14	TogoVar
ADAM22_chr7_87929251_88207889	87966721	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0078 a0001c0019t0001g0078	1	48	0.0208	23	c.247 others(42): Show c.247-11606_247-11584dupTTTTTTTTTTTTTTTTTTTTTTT	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	87982699	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01496.hp1 HG02486.hp2 others(2): Show HG00423.hp2 HG01496.hp1 HG02486.hp2 HG03654.hp1 NA18965.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0004	a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0002g0064 others(2): Show a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0002g0064 a0002c0002t0001g0199 a0003c0003t0004g0137	5	104	0.0481	23	c.323 others(40): Show c.323+4287_323+4288insTATATATATATATATATATATAT	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31			chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0028 a0001c0001t0023g0028	1	77	0.0130	23	c.324 others(42): Show c.324-36161_324-36160insAAAAAAAAAAAAATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM23_chr2_206438532_206626127	206477893	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	237	0.0042	23	c.433 others(40): Show c.433-3339_433-3338insTATATATATATATATATATATAT	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	2/25			chr2	TogoVar
ADAM23_chr2_206438532_206626127	206477895	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	215	0.0047	23	c.433 others(40): Show c.433-3337_433-3336insTATATATATATATATATATATAT	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	2/25			chr2	TogoVar
ADAM23_chr2_206438532_206626127	206477897	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03540.hp2 HG01169.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0131 a0001c0001t0001g0025 a0001c0001t0001g0131	2	130	0.0154	23	c.433 others(40): Show c.433-3334_433-3333insATATATATATATATATATATATA	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAM28_chr8_24289069_24364014	24306351	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0004 a0020c0030t0004	a0020c0030t0004g0299 a0020c0030t0004g0299	1	278	0.0036	23	c.151 others(40): Show c.151-3543_151-3542insTATATATATATATATATATATAT	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	2/22			chr8	TogoVar
ADAM28_chr8_24289069_24364014	24325871	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0013 a0003c0006t0013	a0003c0006t0013g0274 a0003c0006t0013g0274	1	191	0.0052	23	c.891 others(38): Show c.891-676_891-654dupAAAAAAAAAAAAAAAAAAAAAAA	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM32_chr8_39102734_39289917	39154033	C C	CATATATA others(16): Show CATATATATAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0200	1	15	0.0667	23	c.525 others(40): Show c.525+2494_525+2495insATATATATATATATATATATATA	ADAM32	ENSG00000197140.15	transcript	ENST00000379907.9	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr8	TogoVar

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