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
ADAMTS6_chr5_65143738_65486920	65230302	A A	ATATATAT others(18): Show ATATATATGAAATATATATAATACAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0186 a0001c0001t0016g0186	1	114	0.0088	25	c.193 others(44): Show c.1934-4084_1934-4083insATGTATTATATATATTTCATATATA	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65230302	A A	ATATATGA others(18): Show ATATATGAAATATATATATAATACAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02897.hp1 HG02886.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0175 a0001c0001t0002g0162 a0001c0001t0002g0175	2	115	0.0174	25	c.193 others(44): Show c.1934-4084_1934-4083insATGTATTATATATATATTTCATATA	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65319739	G G	GGGAAGGA others(18): Show GGGAAGGAAGGGAGGGAGGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00423.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0153 a0001c0001t0001g0068 a0001c0001t0001g0153	2	77	0.0260	25	c.122 others(44): Show c.1223+9638_1223+9639insTTCCTTCCCTCCCTCCCTTCCTTCC	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	9/24			chr5	TogoVar
ADAMTS9_chr3_64510654_64693000	64692889	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	283	0.0035	25	c.-52 others(36): Show c.-5233_-5232insTGTGTGTGTGTGTGTGTGTGTGTGT	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding		4890		chr3	TogoVar
ADAMTSL1_chr9_18469153_18915950	18866116	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG02027.hp2 others(10): Show HG00639.hp1 HG00741.hp1 HG02027.hp2 HG02129.hp1 HG02965.hp2 HG03516.hp2 HG03927.hp1 HG04115.hp1 NA18955.hp2 NA18968.hp2 NA18988.hp2 NA19004.hp2 NA19085.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0008 a0015 a0024 a0029	a0001c0003 a0001c0010 a0001c0024 others(8): Show a0001c0003 a0001c0010 a0001c0024 a0002c0001 a0002c0004 a0002c0078 a0006c0014 a0008c0017 a0015c0065 a0024c0041 a0029c0058	a0001c0003t0001 a0001c0010t0001 a0001c0024t0001 others(9): Show a0001c0003t0001 a0001c0010t0001 a0001c0024t0001 a0002c0001t0001 a0002c0004t0001 a0002c0004t0006 a0002c0078t0001 a0006c0014t0003 a0008c0017t0004 a0015c0065t0034 a0024c0041t0033 a0029c0058t0001	a0001c0003t0001g0173 a0001c0010t0001g0093 a0001c0024t0001g0137 others(10): Show a0001c0003t0001g0173 a0001c0010t0001g0093 a0001c0024t0001g0137 a0002c0001t0001g0023 a0002c0001t0001g0185 a0002c0004t0001g0059 a0002c0004t0006g0113 a0002c0078t0001g0055 a0006c0014t0003g0144 a0008c0017t0004g0157 a0015c0065t0034g0132 a0024c0041t0033g0013 a0029c0058t0001g0068	13	64	0.2031	25	c.425 others(46): Show c.4250-21701_4250-21700insAAAAAAAAAAAAAAAAAAAAAAAA A	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18891138	T T	TGCTACAT others(18): Show TGCTACATGCCTCTCCTGAAAGCCAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG01255.hp1 others(6): Show HG01074.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG02572.hp2 HG02965.hp1 HG03130.hp2 HG03516.hp1 NA19030.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0002c0001 a0011c0076	a0001c0002t0002 a0001c0003t0003 a0001c0005t0002 others(4): Show a0001c0002t0002 a0001c0003t0003 a0001c0005t0002 a0001c0010t0002 a0002c0001t0002 a0002c0001t0003 a0011c0076t0027	a0001c0002t0002g0066 a0001c0002t0002g0128 a0001c0003t0003g0164 others(6): Show a0001c0002t0002g0066 a0001c0002t0002g0128 a0001c0003t0003g0164 a0001c0005t0002g0009 a0001c0005t0002g0149 a0001c0010t0002g0067 a0002c0001t0002g0203 a0002c0001t0003g0178 a0011c0076t0027g0072	9	216	0.0417	25	c.464 others(44): Show c.4644-1250_4644-1226dupGCTACATGCCTCTCCTGAAAGCCAG	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500696	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAGAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0160 a0001c0002t0005g0160	1	255	0.0039	25	c.53 others(36): Show c.5318_*5319insTTTTTTTTCTTTTTTTTTTTTTTTT	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4325		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500696	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAGAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02723.hp2 HG02809.hp1 HG00639.hp2 HG02723.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0062 a0001c0001t0005g0104 a0001c0002t0005g0143 a0001c0001t0005g0062 a0001c0001t0005g0104 a0001c0002t0005g0143	3	257	0.0117	25	c.53 others(36): Show c.5318_*5319insTTTTTTTTTCTTTTTTTTTTTTTTT	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4325		chr19	TogoVar
ADAP1_chr7_892900_959680	906414	G G	GGGGAAGG others(18): Show GGGGAAGGGGAAAGGGAAAGGAGAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	8	0.1250	25	c.389 others(42): Show c.389-1243_389-1242insTTTCTCCTTTCCCTTTCCCCTTCCC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1237776	T T	TCCCCCCT others(18): Show TCCCCCCTGCCTCCCGGTGTTTACTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0047 a0002c0002t0008g0047	1	102	0.0098	25	c.136 others(44): Show c.1362-3932_1362-3931insGAGTAAACACCGGGAGGCAGGGGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237901	T T	TCTGCCTC others(18): Show TCTGCCTCCCGGTGTTTACTCCCCCC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	84	0.0119	25	c.136 others(44): Show c.1362-4057_1362-4056insGGGGGGAGTAAACACCGGGAGGCAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1240227	T T	TCTGTCTC others(18): Show TCTGTCTCCCGGTGTTTACTCCCCCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0053 a0002c0002t0043g0053	1	101	0.0099	25	c.136 others(44): Show c.1361+1903_1361+1904insGGGGGGAGTAAACACCGGGAGACAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1409627	G G	GTGGTGCC others(18): Show GTGGTGCCGAGGCCTGGCTGTGGTCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02717.hp1 others(4): Show HG01884.hp1 HG02257.hp1 HG02717.hp1 HG02886.hp1 NA18998.hp1 NA19086.hp1 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0008 a0010 a0011	a0001c0007 a0002c0002 a0004c0005 others(4): Show a0001c0007 a0002c0002 a0004c0005 a0006c0009 a0008c0008 a0010c0012 a0011c0011	a0001c0007t0066 a0002c0002t0038 a0004c0005t0037 others(4): Show a0001c0007t0066 a0002c0002t0038 a0004c0005t0037 a0006c0009t0024 a0008c0008t0016 a0010c0012t0007 a0011c0011t0034	a0001c0007t0066g0105 a0002c0002t0038g0048 a0004c0005t0037g0064 others(4): Show a0001c0007t0066g0105 a0002c0002t0038g0048 a0004c0005t0037g0064 a0006c0009t0024g0016 a0008c0008t0016g0003 a0010c0012t0007g0006 a0011c0011t0034g0076	7	106	0.0660	25	c.101 others(44): Show c.101-30492_101-30468dupTGACCACAGCCAGGCCTCGGCACCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1514178	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0073 a0001c0003t0040g0073	1	10	0.1000	25	c.101 others(46): Show c.101-135019_101-135018insATATATATATATATATATATATAT A	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0107 a0004c0005t0012g0107	1	68	0.0147	25	c.-17 others(36): Show c.-1753_-1752insAAAAATATATATATATATATATATA	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		853		chr16	TogoVar
ADAT1_chr16_75591868_75628281	75624134	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0029 a0003c0004t0004g0029	1	325	0.0031	25	c.-17 others(36): Show c.-1754_-1753insTATATATATATATATATATATATAT	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		854		chr16	TogoVar
ADAT2_chr6_143417832_143455695	143427135	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 NA18968.hp2 HG02965.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0058 a0001c0001t0057 a0001c0001t0058	a0001c0001t0057g0103 a0001c0001t0058g0109 a0001c0001t0057g0103 a0001c0001t0058g0109	2	318	0.0063	25	c.13 others(36): Show c.1327_*1328insGTGTGTGTGTGTGTGTGTGTGTGTG	ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding	6/6	1327		chr6	TogoVar
ADAT2_chr6_143417832_143455695	143455171	A A	ATTTTCTT others(18): Show ATTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03041.hp2 HG03139.hp2 others(1): Show HG02572.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0034 a0001c0001t0096 a0002c0002t0020 others(1): Show a0001c0001t0034 a0001c0001t0096 a0002c0002t0020 a0002c0002t0116	a0001c0001t0034g0061 a0001c0001t0096g0102 a0002c0002t0020g0072 others(1): Show a0001c0001t0034g0061 a0001c0001t0096g0102 a0002c0002t0020g0072 a0002c0002t0116g0076	4	87	0.0460	25	c.-45 others(36): Show c.-4538_-4514dupGAAAAGAAAAGAAAAGAAAAGAAAA	ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding		4477		chr6	TogoVar
ADAT3_chr19_1900399_1918447	1906865	A A	AATTGTGT others(18): Show AATTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	428	0.0023	25	c.-15 others(44): Show c.-159+1426_-159+1427insATTGTGTGTGTGTGTGTGTGTGTGT	ADAT3	ENSG00000213638.6	transcript	ENST00000329478.4	protein_coding	1/1			chr19	TogoVar
ADCK1_chr14_77795109_77940014	77816903	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	284	0.0035	25	c.-11 others(42): Show c.-11-2065_-11-2064insATATATATATATATATATATATATA	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	1/10			chr14	TogoVar
ADCK1_chr14_77795109_77940014	77852671	A A	ATATATAT others(18): Show ATATATATTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	281	0.0036	25	c.220 others(42): Show c.220-6398_220-6397insTTATATATATATATATATTATATAT	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77852673	A A	ATATATTT others(18): Show ATATATTTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02027.hp1 HG02293.hp2 others(3): Show HG01175.hp2 HG02027.hp1 HG02293.hp2 NA18967.hp1 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0046 a0001c0002t0001g0048 a0001c0002t0001g0061 others(3): Show a0001c0001t0002g0046 a0001c0002t0001g0048 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0247 a0001c0002t0001g0274	6	284	0.0211	25	c.220 others(42): Show c.220-6398_220-6397insTTATATATATATATATATATTATAT	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77852907	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0183	1	163	0.0061	25	c.220 others(42): Show c.220-6168_220-6167insATATATATATATATATATATATATT	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77852907	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	163	0.0061	25	c.220 others(42): Show c.220-6168_220-6167insATATATATATATATATTTTTTTTTT	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77852907	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03139.hp1 HG01934.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0009 a0001c0004t0002g0032 a0001c0001t0002g0009 a0001c0004t0002g0032	2	164	0.0122	25	c.220 others(42): Show c.220-6168_220-6167insATATATATATATATTTTTTTTTTTT	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77852907	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02630.hp2 HG01891.hp2 HG02572.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0073 a0001c0001t0003g0071 a0001c0001t0003g0084 a0001c0001t0002g0073 a0001c0001t0003g0071 a0001c0001t0003g0084	3	165	0.0182	25	c.220 others(42): Show c.220-6168_220-6167insATATATATATATTTTTTTTTTTTTT	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77938169	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02027.hp2 HG02257.hp1 others(6): Show HG01891.hp1 HG02027.hp2 HG02257.hp1 HG03195.hp1 HG03209.hp2 HG03516.hp1 HG06807.hp2 NA18943.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0003t0002 a0001c0003t0006 a0001c0005t0006	a0001c0001t0002g0111 a0001c0001t0002g0281 a0001c0001t0002g0284 others(6): Show a0001c0001t0002g0111 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0006g0166 a0001c0001t0009g0169 a0001c0003t0002g0168 a0001c0003t0006g0045 a0001c0005t0006g0013 a0001c0005t0006g0014	9	73	0.1233	25	c.47 others(36): Show c.4778_*4779insAAAAAAAAAAAAAAAAAAAAAAAAA	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding		3156		chr14	TogoVar
ADCK5_chr8_144369047_144398242	144372965	C C	CGGAGGAG others(18): Show CGGAGGAGGGGCCACTGGTGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02647.hp2 others(7): Show HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02965.hp1 HG02970.hp2 HG03195.hp1 HG03486.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0016 a0001c0003t0001g0017 others(3): Show a0001c0003t0001g0007 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044	10	308	0.0325	25	c.-11 others(36): Show c.-1131_-1130insGGAGGAGGGGCCACTGGTGGGAGGA	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding		1081		chr8	TogoVar
ADCK5_chr8_144369047_144398242	144372984	G G	GGGAGGAG others(18): Show GGGAGGAGGAGGAGGGGCCACTGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG02965.hp2 others(2): Show HG02559.hp1 HG02886.hp1 HG02965.hp2 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0016 a0001c0003t0001g0017 others(1): Show a0001c0003t0001g0007 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0045	5	344	0.0145	25	c.-11 others(36): Show c.-1112_-1111insGGAGGAGGAGGAGGGGCCACTGGTG	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding		1062		chr8	TogoVar
ADCY10_chr1_167804386_167919134	167832618	A A	AATCAAAA others(18): Show AATCAAAACCCAGTGTCTTAGCACCT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0022 a0022	a0022c0027 a0022c0027	a0022c0027t0001 a0022c0027t0001	a0022c0027t0001g0038 a0022c0027t0001g0038	1	324	0.0031	25	c.359 others(42): Show c.3593+368_3593+369insAGGTGCTAAGACACTGGGTTTTGAT	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	25/32			chr1	TogoVar
ADCY1_chr7_45569368_45728116	45583937	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0058 a0001c0001t0016g0058	1	191	0.0052	25	c.639 others(42): Show c.639+8759_639+8783dupTTTTTTTTTTTTTTTTTTTTTTTTT	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45641932	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp1 HG03209.hp2 others(3): Show HG01346.hp1 HG02135.hp1 HG03209.hp2 NA19003.hp1 NA19056.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0239 a0001c0001t0002g0273 a0001c0001t0006g0054 others(3): Show a0001c0001t0001g0239 a0001c0001t0002g0273 a0001c0001t0006g0054 a0001c0001t0016g0051 a0001c0001t0016g0055 a0001c0001t0017g0233	6	25	0.2400	25	c.102 others(44): Show c.1021-6724_1021-6723insAAAAAAAAAAAAAAAAAAAAAAAAA	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45725391	G G	GAAAAGGG others(18): Show GAAAAGGGAAGGAAGGAAGGAAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0111 a0001c0002t0012g0111	1	128	0.0078	25	c.11 others(38): Show c.11396_*11397insAAAAGGGAAGGAAGGAAGGAAGGAA	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding		2276		chr7	TogoVar
ADCY2_chr5_7391138_7835081	7589458	A A	AAAAGAAA others(18): Show AAAAGAAAGAAAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02280.hp2 HG02647.hp1 HG01496.hp1 HG02280.hp2 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0002c0003 a0001c0005 a0002c0002 a0002c0003	a0001c0005t0001 a0002c0002t0001 a0002c0003t0004 a0001c0005t0001 a0002c0002t0001 a0002c0003t0004	a0001c0005t0001g0117 a0002c0002t0001g0083 a0002c0003t0004g0003 a0001c0005t0001g0117 a0002c0002t0001g0083 a0002c0003t0004g0003	3	82	0.0366	25	c.571 others(44): Show c.571-36686_571-36685insAGAAAGAAAGAAAGAAAGAAAGAAA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7589506	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0045 a0002c0002t0005g0045	1	112	0.0089	25	c.571 others(44): Show c.571-36654_571-36653insGAAAGAAAGAAAGAAAGAAAAGAAA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7589511	A A	AAAGAAAG others(18): Show AAAGAAAGAAAGAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01168.hp1 HG01169.hp1 others(2): Show HG00642.hp2 HG01168.hp1 HG01169.hp1 HG01952.hp2 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0002 a0002c0003t0001 a0002c0003t0011 a0001c0006t0002 a0002c0003t0001 a0002c0003t0011	a0001c0006t0002g0090 a0002c0003t0001g0128 a0002c0003t0011g0069 others(2): Show a0001c0006t0002g0090 a0002c0003t0001g0128 a0002c0003t0011g0069 a0002c0003t0011g0070 a0002c0003t0011g0093	5	110	0.0455	25	c.571 others(44): Show c.571-36654_571-36653insGAAAGAAAGAAAGAAAAAGAAAGAA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7693406	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0132 a0002c0003t0008g0132	1	130	0.0077	25	c.870 others(42): Show c.870-2340_870-2339insTTTTTTTTTTTTTTTTTTTTTTTTT	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7723920	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	7	0.1429	25	c.170 others(42): Show c.1704-601_1704-600insAAAAAAAAAAAAAAAAAAAAAAAAA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY3_chr2_24814169_24925237	24817466	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0248 a0001c0010t0008g0249 a0001c0010t0008g0248 a0001c0010t0008g0249	2	53	0.0377	25	c.24 others(36): Show c.2465_*2466insTTTTTTTTTTTTTTTTTTTTTTTTT	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding		1702		chr2	TogoVar
ADCY5_chr3_123277296_123454090	123303893	G G	GAAGAGAA others(18): Show GAAGAGAAGAGAAGAGAAGAGAAGAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp2 HG01993.hp2 others(6): Show HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG04115.hp2 NA18962.hp1 NA18983.hp2 NA19003.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 others(6): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0169 a0001c0001t0003g0120 a0001c0001t0003g0142 a0001c0001t0003g0227 a0001c0001t0004g0081	9	16	0.5625	25	c.255 others(42): Show c.2559+173_2559+174insTTCTTCTCTTCTCTTCTCTTCTCTT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	13/20			chr3	TogoVar
ADCY5_chr3_123277296_123454090	123393564	T T	TTAAAATA others(18): Show TTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 NA18747.hp2 others(1): Show HG02145.hp2 HG02559.hp2 NA18747.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0167 a0001c0001t0002g0055 a0001c0001t0003g0237 others(1): Show a0001c0001t0001g0167 a0001c0001t0002g0055 a0001c0001t0003g0237 a0001c0001t0011g0158	4	116	0.0345	25	c.113 others(46): Show c.1135-41008_1135-40984dupTTTTATTTTATTTTATTTTATTTT A	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/20			chr3	TogoVar
ADCY9_chr16_3957653_4121442	4018970	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02055.hp2 HG01256.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0012 a0001c0009t0078 a0001c0003t0012 a0001c0009t0078	a0001c0003t0012g0249 a0001c0009t0078g0221 a0001c0003t0012g0249 a0001c0009t0078g0221	2	314	0.0064	25	c.169 others(46): Show c.1694-11413_1694-11412insCACACACACACACACACACACACA C	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	2/10			chr16	TogoVar
ADD1_chr4_2838844_2935062	2844132	G G	GGCGGGCG others(18): Show GGCGGGCGGGGGCCGCGGGGCCTGCA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0010 a0001c0013t0010	a0001c0013t0010g0316 a0001c0013t0010g0316	1	318	0.0031	25	c.-21 others(40): Show c.-21+112_-21+113insGCGGGGGCCGCGGGGCCTGCAGCGG	ADD1	ENSG00000087274.19	transcript	ENST00000683351.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADD1_chr4_2838844_2935062	2852186	C C	CTTCCTTT others(18): Show CTTCCTTTCTTCCTTTCTTCCTTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0246 a0001c0004t0001g0246	1	311	0.0032	25	c.-21 others(42): Show c.-21+8164_-21+8165insCCTTTCTTCCTTTCTTCCTTTCTTT	ADD1	ENSG00000087274.19	transcript	ENST00000683351.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADD1_chr4_2838844_2935062	2852207	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	55	0.0182	25	c.-21 others(42): Show c.-21+8183_-21+8184insTTTCTTTCTTTCTTTCCTTTCCTTT	ADD1	ENSG00000087274.19	transcript	ENST00000683351.1	protein_coding	1/15			chr4	TogoVar
ADD3_chr10_110002984_110140565	110065539	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02809.hp2 NA18999.hp1 others(4): Show HG01361.hp2 HG02809.hp2 NA18999.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0209 a0001c0001t0002g0150 a0001c0001t0002g0157 others(4): Show a0001c0001t0001g0209 a0001c0001t0002g0150 a0001c0001t0002g0157 a0001c0001t0002g0171 a0001c0001t0002g0189 a0001c0001t0002g0226 a0001c0001t0007g0264	7	69	0.1014	25	c.-29 others(44): Show c.-29-35068_-29-35067insTTTTTTTTTTTTTTTTTTTTTTTTT	ADD3	ENSG00000148700.15	transcript	ENST00000356080.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133129623	T T	TTCACACC others(18): Show TTCACACCCCTGCCCCTTCCTTGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01884.hp1 others(5): Show HG00733.hp1 HG01069.hp2 HG01884.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0026 others(1): Show a0001c0001 a0001c0003 a0001c0026 a0005c0013	a0001c0001t0016 a0001c0001t0061 a0001c0003t0016 others(2): Show a0001c0001t0016 a0001c0001t0061 a0001c0003t0016 a0001c0026t0037 a0005c0013t0060	a0001c0001t0016g0181 a0001c0001t0061g0239 a0001c0003t0016g0010 others(4): Show a0001c0001t0016g0181 a0001c0001t0061g0239 a0001c0003t0016g0010 a0001c0003t0016g0108 a0001c0003t0016g0154 a0001c0026t0037g0014 a0005c0013t0060g0254	8	298	0.0268	25	c.18 others(34): Show c.188_*212dupTCACACCCCTGCCCCTTCCTTGTGA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	213	INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133135686	G G	GTGTCTGG others(18): Show GTGTCTGGTCTCTGGGTCCCTGTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01884.hp2 HG02129.hp1 others(4): Show HG00099.hp2 HG01884.hp2 HG02129.hp1 HG02602.hp1 HG03710.hp1 HG03927.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0025 others(2): Show a0001c0001t0002 a0001c0001t0024 a0001c0001t0025 a0001c0001t0047 a0001c0001t0072	a0001c0001t0002g0077 a0001c0001t0024g0044 a0001c0001t0024g0118 others(4): Show a0001c0001t0002g0077 a0001c0001t0024g0044 a0001c0001t0024g0118 a0001c0001t0024g0143 a0001c0001t0025g0047 a0001c0001t0047g0269 a0001c0001t0072g0038	7	366	0.0191	25	c.61 others(36): Show c.6175_*6176insTGTCTGGTCTCTGGGTCCCTGTGGT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4012		chr10	TogoVar
ADGRB2_chr1_31722117_31769340	31738352	G G	GCCCCAGG others(18): Show GCCCCAGGCCAGCTACGTGGCCCTGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp1 HG02965.hp2 others(3): Show HG02630.hp2 HG02818.hp1 HG02965.hp2 HG03453.hp2 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0047 a0001c0002t0002g0049 others(2): Show a0001c0002t0002g0016 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0059 a0001c0002t0002g0062	6	278	0.0216	25	c.264 others(40): Show c.2646-51_2646-27dupGCAGGGCCACGTAGCTGGCCTGGGG	ADGRB2	ENSG00000121753.13	transcript	ENST00000373658.8	protein_coding	17/32			chr1	TogoVar
ADGRB3_chr6_68630282_69394506	69144876	G G	GTTTCTTT others(18): Show GTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01167.hp1 HG01516.hp1 others(3): Show HG00099.hp2 HG01167.hp1 HG01516.hp1 HG01517.hp2 HG02109.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0047 a0001c0001t0001g0081 a0001c0001t0002g0101 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0081 a0001c0001t0002g0101 a0001c0002t0001g0006 a0001c0002t0001g0096 a0001c0002t0001g0106	6	14	0.4286	25	c.248 others(46): Show c.2480+68840_2480+68841insTCTTTCTTTCTTTCTTTCTTTCTT T	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar

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