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
H3C14_chr1_149835687_149846208	149842102	C C	CCCCGTCC others(18): Show CCCCGTCCCGTCCCGTCCCGTCCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 NA18962.hp1 NA19090.hp2 HG02970.hp1 NA18962.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	165	0.0182	25	c.-94 others(34): Show c.-946_-945insACGGGACGGGACGGGACGGGACGGG	H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding		895		chr1	TogoVar
H3C15_chr1_149847608_149858125	149851673	T T	TGACGGGA others(18): Show TGACGGGACGGGACGGGACGGGACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	184	0.0054	25	c.-98 others(34): Show c.-982_-981insGACGGGACGGGACGGGACGGGACGG	H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding		934		chr1	TogoVar
H3C15_chr1_149847608_149858125	149851690	A A	ACGGGGCG others(18): Show ACGGGGCGGGACGGGGCGGGACGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	315	0.0032	25	c.-96 others(34): Show c.-965_-964insCGGGGCGGGACGGGGCGGGACGGGG	H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding		917		chr1	TogoVar
H3C15_chr1_149847608_149858125	149851700	A A	ACGGGGCG others(18): Show ACGGGGCGGGACGGGGCGGGACGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	246	0.0041	25	c.-95 others(34): Show c.-955_-954insCGGGGCGGGACGGGGCGGGACGGGG	H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding		907		chr1	TogoVar
H3C15_chr1_149847608_149858125	149851705	A A	ACGGGACG others(18): Show ACGGGACGGGACGGGGCGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	158	0.0063	25	c.-95 others(34): Show c.-950_-949insCGGGACGGGACGGGGCGGGGCGGGG	H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding		902		chr1	TogoVar
H3C15_chr1_149847608_149858125	149851705	A A	ACGGGGCG others(18): Show ACGGGGCGGGGCGGGGCGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	158	0.0063	25	c.-95 others(34): Show c.-950_-949insCGGGGCGGGGCGGGGCGGGGCGGGG	H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding		902		chr1	TogoVar
H3C2_chr6_26026589_26037099	26031178	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG03098.hp2 others(1): Show HG01516.hp2 HG01517.hp2 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	358	0.0112	25	c.47 others(34): Show c.471_*472insATATATATATATATATATATATATA	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		410		chr6	TogoVar
H4C13_chr6_27868148_27878534	27875500	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	120	0.0083	25	c.-19 others(36): Show c.-1991_-1990insAAAAAAAAAAAAAAAAAAAAAAAAA	H4C13	ENSG00000275126.2	transcript	ENST00000618305.2	protein_coding		1967		chr6	TogoVar
H4C2_chr6_26021896_26032283	26031178	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG03098.hp2 others(1): Show HG01516.hp1 HG01517.hp2 HG03098.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	360	0.0111	25	c.-39 others(36): Show c.-3927_-3926insATATATATATATATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3896		chr6	TogoVar
HABP4_chr9_96445169_96496336	96453438	T T	TGACCTCA others(18): Show TGACCTCAGGTGATCCGCCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	304	0.0033	25	c.349 others(42): Show c.349+2812_349+2836dupACCTCAGGTGATCCGCCCGCCTCAG	HABP4	ENSG00000130956.14	transcript	ENST00000375249.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
HACD2_chr3_123486554_123590053	123542146	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02818.hp1 HG06807.hp1 others(1): Show HG00673.hp2 HG02818.hp1 HG06807.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0139 a0001c0001t0005g0200 a0001c0002t0005g0067 others(1): Show a0001c0001t0005g0139 a0001c0001t0005g0200 a0001c0002t0005g0067 a0001c0002t0005g0076	4	50	0.0800	25	c.293 others(44): Show c.293-13697_293-13673dupTTTTTTTTTTTTTTTTTTTTTTTTT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACD3_chr15_65525463_65583349	65527131	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01346.hp1 others(23): Show HG00140.hp1 HG00735.hp2 HG01346.hp1 HG01515.hp1 HG01517.hp1 HG02109.hp1 HG02559.hp1 HG02602.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02976.hp2 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04199.hp1 HG04228.hp2 NA18986.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0002t0002 a0001c0002t0018	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0073 others(20): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0103 a0001c0001t0002g0004 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0182 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0006g0222 a0001c0001t0007g0172 a0001c0001t0009g0034 a0001c0001t0011g0158 a0001c0001t0015g0160 a0001c0002t0002g0210 a0001c0002t0002g0212 a0001c0002t0018g0029	26	50	0.5200	25	c.-35 others(36): Show c.-3501_-3500insAAAATAAAATAAAATAAAATAAAAT	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding		3331		chr15	TogoVar
HACE1_chr6_104723094_104864919	104831918	A A	AAGAAGAG others(18): Show AAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG00741.hp2 others(21): Show HG00438.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01934.hp1 HG01981.hp1 HG01993.hp1 HG02135.hp2 HG02698.hp1 HG02809.hp1 HG03654.hp2 NA18962.hp1 NA18973.hp1 NA18984.hp1 NA18995.hp2 NA19004.hp1 NA19006.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0160 a0001c0001t0001g0226 others(20): Show a0001c0001t0001g0006 a0001c0001t0001g0160 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0291 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0002g0035 a0001c0001t0002g0057 a0001c0002t0001g0097 a0001c0002t0001g0103 a0001c0002t0001g0124 a0001c0002t0001g0125	24	85	0.2824	25	c.534 others(42): Show c.534+1099_534+1123dupCTTCTCTTCTCTTCTCTTCTCTTCT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23			chr6	TogoVar
HAGH_chr16_1802629_1831825	1830944	A A	ACACACAC others(18): Show ACACACACACACACACCCCACCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01255.hp2 HG01981.hp2 others(7): Show HG00741.hp1 HG01255.hp2 HG01981.hp2 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18980.hp1 NA18993.hp2 NA19002.hp2 NA19082.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0012 a0001c0001 a0011c0012	a0001c0001t0003 a0001c0001t0013 a0011c0012t0003 a0001c0001t0003 a0001c0001t0013 a0011c0012t0003	a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0029 others(5): Show a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0029 a0001c0001t0003g0106 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0013g0031 a0011c0012t0003g0111	10	171	0.0585	25	c.-41 others(36): Show c.-4158_-4157insGGTGGGTGGGGTGTGTGTGTGTGTG	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4120		chr16	TogoVar
HAP1_chr17_41717640_41739643	41737065	G G	GAGGGAGG others(18): Show GAGGGAGGAAGAAAGGAAGGAAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0337 a0007c0007t0002g0337	1	47	0.0213	25	c.-24 others(36): Show c.-2432_-2431insTCCCTTCCTTCCTTTCTTCCTCCCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2423		chr17	TogoVar
HAPLN3_chr15_88872294_88900544	88887532	A A	AGGGAGCT others(18): Show AGGGAGCTGTACCCCGAAGGCAAGAC	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	434	0.0023	25	c.-47 others(40): Show c.-47-212_-47-188dupGTCTTGCCTTCGGGGTACAGCTCCC	HAPLN3	ENSG00000140511.12	transcript	ENST00000359595.8	protein_coding	1/4			chr15	TogoVar
HAPSTR1_chr16_9086644_9126635	9088603	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 NA19005.hp1 HG03209.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0075 a0001c0001t0003 a0001c0001t0075	a0001c0001t0003g0003 a0001c0001t0075g0096 a0001c0001t0003g0003 a0001c0001t0075g0096	2	302	0.0066	25	c.-34 others(36): Show c.-3442_-3441insAAAAAAAAAAAAAAAAAAAAAAAAA	HAPSTR1	ENSG00000182831.12	transcript	ENST00000327827.12	protein_coding		3040		chr16	TogoVar
HAUS1_chr18_46099385_46133333	46113010	T T	TATATATA others(18): Show TATATATATTCCATATTATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	366	0.0027	25	c.206 others(42): Show c.206-5162_206-5138dupTCCATATTATATATATAATATATAT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAVCR1_chr5_157024413_157064116	157044610	A A	AGAGAGAA others(18): Show AGAGAGAAAGAAAGAAAGAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	350	0.0029	25	c.782 others(42): Show c.782-1929_782-1928insCTTTTTTTCTTTCTTTCTTTCTCTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAX1_chr1_154267629_154280875	154267880	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	158	0.0063	25	c.-48 others(36): Show c.-4844_-4843insTTTTTTTTTTTTTTTTTTTTTTTTT	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		4748		chr1	TogoVar
HAX1_chr1_154267629_154280875	154277333	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	283	0.0035	25	c.16 others(36): Show c.1632_*1633insATATATATATATATATATATATATA	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		1459		chr1	TogoVar
HCAR2_chr12_122696293_122708357	122699164	A A	AAAAAAAA others(18): Show AAAAAAAAAAGAAAAGAAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18962.hp2 NA18942.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	426	0.0047	25	c.30 others(36): Show c.3027_*3028insCTTTTCTTTTCTTTTCTTTTTTTTT	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		2128		chr12	TogoVar
HCAR2_chr12_122696293_122708357	122704416	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 NA18952.hp2 HG01952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	183	0.0109	25	c.-11 others(36): Show c.-1134_-1133insAAAAAAAAAAAAAAAAAAAAAAAAA	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		1060		chr12	TogoVar
HCAR3_chr12_122709756_122721811	122718931	A A	AGTTTTTT others(18): Show AGTTTTTTTCTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0002 a0008c0014t0002	a0008c0014t0002g0000 a0008c0014t0002g0000	1	422	0.0024	25	c.-21 others(36): Show c.-2195_-2194insAAAAAAAAAAAAAAAAGAAAAAAAC	HCAR3	ENSG00000255398.3	transcript	ENST00000528880.3	protein_coding		2121		chr12	TogoVar
HCK_chr20_32047242_32106856	32094705	A A	AAAAGAAA others(18): Show AAAAGAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01934.hp2 NA18747.hp2 others(1): Show HG01496.hp2 HG01934.hp2 NA18747.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0142 a0001c0001t0001g0153 others(1): Show a0001c0001t0001g0095 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0156	4	90	0.0444	25	c.124 others(42): Show c.1246+696_1246+697insAGAAAGAAAGAAAGAAAGAAAGAAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCN1_chr5_45249948_45701380	45372440	T T	TATATAAA others(18): Show TATATAAAAATATATAAAACATTTAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00738.hp1 others(5): Show HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01074.hp1 HG01256.hp1 HG01258.hp1 HG02257.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 a0001c0001t0001 a0001c0001t0003 a0001c0001t0026	a0001c0001t0001g0116 a0001c0001t0001g0192 a0001c0001t0003g0117 others(5): Show a0001c0001t0001g0116 a0001c0001t0001g0192 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0026g0071	8	203	0.0394	25	c.123 others(46): Show c.1231-19219_1231-19195dupGTAAATGTTTTATATATTTTTATA T	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45373986	T T	TATATATT others(18): Show TATATATTACATACGGTATATACATC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp1 HG02055.hp1 others(7): Show HG01261.hp2 HG01891.hp1 HG02055.hp1 HG02717.hp1 HG02886.hp2 HG02897.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0123 others(7): Show a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0154	10	224	0.0446	25	c.123 others(46): Show c.1231-20741_1231-20740insGATGTATATACCGTATGTAATATA T	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(18): Show AGAATATATATTCTATATAATATATG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0070 a0001c0001t0029g0070	1	3	0.3333	25	c.123 others(46): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT C	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45629998	A A	ACCCCAGA others(18): Show ACCCCAGAGGCTGCTCTGAGGGAGTC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19003.hp2 NA18992.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0078 a0001c0001t0013g0079 a0001c0001t0013g0078 a0001c0001t0013g0079	2	224	0.0089	25	c.849 others(44): Show c.849+15162_849+15186dupGACTCCCTCAGAGCAGCCTCTGGGG	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	2/7			chr5	TogoVar
HCN4_chr15_73314859_73373958	73316252	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	87	0.0115	25	c.62 others(36): Show c.6228_*6229insATATATATATATATATATATATATA	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		3606		chr15	TogoVar
HCRTR2_chr6_55169515_55287617	55241861	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02257.hp1 HG01515.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0184 a0002c0002t0001g0181 a0002c0002t0001g0184	2	216	0.0093	25	c.224 others(42): Show c.224-6755_224-6754insTTTTTTTTTTTTTTTTTTTTTTTTT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC2_chr6_113928028_113976148	113930733	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	394	0.0025	25	c.10 others(38): Show c.10324_*10325insGAGAGAGAGAGAGAGAGAGAGAGAG	HDAC2	ENSG00000196591.12	transcript	ENST00000519065.6	protein_coding		2294		chr6	TogoVar
HDAC2_chr6_113928028_113976148	113930739	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCCCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	398	0.0025	25	c.10 others(38): Show c.10318_*10319insGAGAGAGGGAGAGAGAGAGAGAGAG	HDAC2	ENSG00000196591.12	transcript	ENST00000519065.6	protein_coding		2288		chr6	TogoVar
HDAC8_chrX_72324516_72577843	72411030	C C	CTTTTCTT others(18): Show CTTTTCTTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02647.hp1 others(7): Show HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02895.hp1 HG02922.hp2 HG03209.hp1 HG03540.hp1 HG06807.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0090 a0001c0001t0001g0196 a0001c0001t0001g0198 others(7): Show a0001c0001t0001g0090 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0004g0030 a0001c0002t0001g0186 a0001c0002t0001g0188	10	186	0.0538	25	c.100 others(46): Show c.1005+50973_1005+50974insAAAGAAAGAAAGAAAGAAAAGAAA A	HDAC8	ENSG00000147099.21	transcript	ENST00000373573.9	protein_coding	9/10			chrX	TogoVar
HDAC8_chrX_72324516_72577843	72453504	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	206	0.0049	25	c.100 others(44): Show c.1005+8499_1005+8500insTCTTTCTTTCTTTCTTTCTTTCTTT	HDAC8	ENSG00000147099.21	transcript	ENST00000373573.9	protein_coding	9/10			chrX	TogoVar
HDAC9_chr7_18490749_19007416	18719331	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	41	0.0244	25	c.173 others(44): Show c.1732-8247_1732-8223dupTTTTTTTTTTTTTTTTTTTTTTTTT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDGFL3_chr15_83122753_83212823	83169414	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0222 a0001c0001t0005g0222	1	37	0.0270	25	c.85- others(40): Show c.85-5364_85-5340dupTTTTTTTTTTTTTTTTTTTTTTTTT	HDGFL3	ENSG00000166503.9	transcript	ENST00000299633.7	protein_coding	1/5			chr15	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19077.hp1 HG02922.hp1 NA19077.hp1	a0001 a0021 a0001 a0021	a0001c0002 a0021c0026 a0001c0002 a0021c0026	a0001c0002t0002 a0021c0026t0002 a0001c0002t0002 a0021c0026t0002	a0001c0002t0002g0303 a0021c0026t0002g0259 a0001c0002t0002g0303 a0021c0026t0002g0259	2	70	0.0286	25	c.188 others(42): Show c.1882-234_1882-233insAAAAAAAAAAAAAAAAAAAAAAAAA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0250 a0003c0007t0003g0250	1	118	0.0085	25	c.-72 others(42): Show c.-72-1087_-72-1086insATATATATATATTTTTTTTTTTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0004 a0004c0011t0004	a0004c0011t0004g0179 a0004c0011t0004g0179	1	118	0.0085	25	c.-72 others(42): Show c.-72-1087_-72-1086insATATATATATATATTTTTTTTTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0132 a0002c0003t0002g0132	1	153	0.0065	25	c.591 others(44): Show c.5912-2422_5912-2421insATATATTTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HECTD1_chr14_31095117_31212793	31179429	C C	CATAAAAT others(18): Show CATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0288 a0001c0003t0001g0288	1	274	0.0036	25	c.141 others(42): Show c.141-1200_141-1176dupTTTATTTTATTTTATTTTATTTTAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	2/42			chr14	TogoVar
HECTD4_chr12_112155195_112387431	112246141	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18971.hp1 HG01952.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0187 a0001c0002t0001g0171 a0001c0002t0001g0187	2	100	0.0200	25	c.451 others(42): Show c.4513+735_4513+759dupATTTTATTTTATTTTATTTTATTTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	29/75			chr12	TogoVar
HECW2_chr2_196189072_196598554	196507176	T T	TACACACA others(18): Show TACACACACTAATATGTGTATATTAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0079	1	105	0.0095	25	c.-35 others(44): Show c.-35-73743_-35-73719dupGTAATATACACATATTAGTGTGTGT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196569371	C C	CTAAACTA others(18): Show CTAAACTAAACTAAACTAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01891.hp2 HG03195.hp2 HG01515.hp2 HG01891.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0018 a0001c0002t0006 a0001c0001t0005 a0001c0001t0018 a0001c0002t0006	a0001c0001t0005g0079 a0001c0001t0018g0033 a0001c0002t0006g0011 a0001c0001t0005g0079 a0001c0001t0018g0033 a0001c0002t0006g0011	3	51	0.0588	25	c.-36 others(44): Show c.-36+24136_-36+24137insTTTTATTTTAGTTTAGTTTAGTTTA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HELB_chr12_66297493_66343199	66327066	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0001 a0010c0027t0001	a0010c0027t0001g0220 a0010c0027t0001g0220	1	55	0.0182	25	c.267 others(44): Show c.2670+1940_2670+1941insTATATATATATATATATATATATAT	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12			chr12	TogoVar
HELLS_chr10_94540788_94607099	94542798	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02897.hp2 HG02280.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0048 a0001c0002t0001g0033 a0001c0002t0001g0048	2	119	0.0168	25	c.-31 others(36): Show c.-3124_-3123insTTTTTTTTTTTTTTTTTTTTTTTTT	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding		2989		chr10	TogoVar
HERC1_chr15_63603618_63838948	63720103	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02922.hp2 HG03486.hp2 others(2): Show HG01515.hp1 HG02922.hp2 HG03486.hp2 NA18522.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0019 a0001c0001 a0001c0004 a0002c0019	a0001c0001t0001 a0001c0004t0003 a0002c0019t0002 a0001c0001t0001 a0001c0004t0003 a0002c0019t0002	a0001c0001t0001g0140 a0001c0004t0003g0189 a0001c0004t0003g0190 others(2): Show a0001c0001t0001g0140 a0001c0004t0003g0189 a0001c0004t0003g0190 a0002c0019t0002g0085 a0002c0019t0002g0086	5	51	0.0980	25	c.374 others(44): Show c.3743-1207_3743-1206insAAAAAAAAAAAAAAAAAAAAAAAAA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	19/77			chr15	TogoVar
HERC4_chr10_67916905_68080283	68059444	A A	AATATTAT others(18): Show AATATTATATATTATAATAATATTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp2 HG02976.hp2 others(1): Show HG02451.hp2 HG02818.hp2 HG02976.hp2 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0226 a0001c0002t0002g0010 a0001c0002t0002g0011 others(1): Show a0001c0002t0001g0226 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012	4	358	0.0112	25	c.226 others(44): Show c.226+13414_226+13438dupATAATATTATTATAATATATAATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HES1_chr3_194131148_194143732	194141600	G G	GCGGCGGC others(18): Show GCGGCGGCGGGGAGAGGGGCGGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02622.hp1 others(2): Show HG02055.hp1 HG02486.hp2 HG02622.hp1 HG02723.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0002 a0001c0001t0003g0001 a0001c0001t0009g0005 a0001c0001t0001g0002 a0001c0001t0003g0001 a0001c0001t0009g0005	5	431	0.0116	25	c.33 others(36): Show c.3367_*3368insCGGCGGCGGGGAGAGGGGCGGGAGC	HES1	ENSG00000114315.4	transcript	ENST00000232424.4	protein_coding		2869		chr3	TogoVar

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