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
HIVEP3_chr1_41501365_41923922	41598825	A A	ATTTATTT others(22): Show ATTTATTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0089 a0002c0002t0065g0089	1	123	0.0081	29	c.-52 others(50): Show c.-521-13508_-521-13507insATAAATAAATAAATAAATAAATAA ATAAA	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	3/8			chr1	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18971.hp1 NA19005.hp2 NA18959.hp1 NA18971.hp1 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0113 a0001c0002t0002g0134 a0001c0003t0002g0101 a0001c0002t0002g0113 a0001c0002t0002g0134 a0001c0003t0002g0101	3	73	0.0411	29	c.-28 others(40): Show c.-2863_-2862insAAAAAATATATATATATATATATATATAT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	71	0.0141	29	c.-28 others(40): Show c.-2863_-2862insAAAATATATATATATATATATATATATAT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2377		chr10	TogoVar
HLA-C_chr6_31263749_31277092	31264560	G G	GGGAAGAT others(22): Show GGGAAGATGTGTGAATAATCATTTCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(368): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0002 a0003 a0004 others(27): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023 a0025 a0026 a0027 a0028 a0029 a0031 a0032 a0033 a0034	a0002c0004 a0002c0027 a0003c0002 others(32): Show a0002c0004 a0002c0027 a0003c0002 a0004c0003 a0005c0005 a0005c0035 a0006c0006 a0007c0007 a0008c0008 a0008c0039 a0009c0009 a0010c0011 a0011c0010 a0012c0012 a0012c0030 a0013c0013 a0013c0040 a0014c0015 a0015c0014 a0016c0016 a0017c0017 a0018c0018 a0019c0021 a0020c0019 a0021c0020 a0023c0024 a0025c0023 a0026c0026 a0027c0028 a0028c0029 a0029c0034 a0031c0038 a0032c0033 a0033c0036 a0034c0037	a0002c0004t0001 a0002c0004t0012 a0002c0004t0016 others(37): Show a0002c0004t0001 a0002c0004t0012 a0002c0004t0016 a0002c0027t0001 a0003c0002t0002 a0003c0002t0018 a0004c0003t0002 a0004c0003t0015 a0005c0005t0001 a0005c0035t0001 a0006c0006t0003 a0007c0007t0003 a0008c0008t0007 a0008c0039t0007 a0009c0009t0005 a0010c0011t0009 a0011c0010t0006 a0012c0012t0003 a0012c0012t0019 a0012c0030t0003 a0013c0013t0008 a0013c0040t0008 a0014c0015t0005 a0015c0014t0001 a0016c0016t0006 a0017c0017t0010 a0018c0018t0003 a0019c0021t0013 a0020c0019t0005 a0021c0020t0008 a0023c0024t0014 a0025c0023t0002 a0026c0026t0001 a0027c0028t0005 a0028c0029t0007 a0029c0034t0002 a0031c0038t0005 a0032c0033t0010 a0033c0036t0002 a0034c0037t0005	a0002c0004t0001g0005 a0002c0004t0012g0020 a0002c0004t0016g0037 others(47): Show a0002c0004t0001g0005 a0002c0004t0012g0020 a0002c0004t0016g0037 a0002c0027t0001g0036 a0003c0002t0002g0004 a0003c0002t0002g0033 a0003c0002t0002g0034 a0003c0002t0018g0048 a0004c0003t0002g0003 a0004c0003t0015g0030 a0005c0005t0001g0002 a0005c0035t0001g0049 a0006c0006t0003g0006 a0007c0007t0003g0008 a0007c0007t0003g0039 a0008c0008t0007g0007 a0008c0039t0007g0055 a0009c0009t0005g0009 a0010c0011t0009g0012 a0010c0011t0009g0044 a0011c0010t0006g0011 a0011c0010t0006g0028 a0012c0012t0003g0013 a0012c0012t0003g0057 a0012c0012t0019g0058 a0012c0030t0003g0041 a0013c0013t0008g0016 a0013c0013t0008g0060 a0013c0040t0008g0059 a0014c0015t0005g0018 a0014c0015t0005g0024 a0015c0014t0001g0014 a0016c0016t0006g0015 a0017c0017t0010g0017 a0018c0018t0003g0019 a0019c0021t0013g0022 a0020c0019t0005g0027 a0020c0019t0005g0051 a0020c0019t0005g0052 a0021c0020t0008g0023 a0023c0024t0014g0026 a0025c0023t0002g0029 a0026c0026t0001g0035 a0027c0028t0005g0038 a0028c0029t0007g0040 a0029c0034t0002g0047 a0031c0038t0005g0053 a0032c0033t0010g0046 a0033c0036t0002g0054 a0034c0037t0005g0050	371	448	0.8281	29	c.46 others(40): Show c.4608_*4609insATGGTGAAATGATTATTCACACATCTTCC	HLA-C	ENSG00000204525.18	transcript	ENST00000376228.10	protein_coding		4188		chr6	TogoVar
HLA-DRA_chr6_32434887_32450046	32449677	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03471.hp2 HG02965.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0009 a0003c0003t0002g0009	2	37	0.0541	29	c.50 others(40): Show c.5037_*5038insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding		4632		chr6	TogoVar
HLA-G_chr6_29822825_29836021	29831449	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG02300.hp1 NA18991.hp2 HG01257.hp1 HG02300.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	3	27	0.1111	29	c.71 others(38): Show c.710_*711insTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding		429		chr6	TogoVar
HMBOX1_chr8_28885395_29058262	29003555	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19062.hp1 NA19062.hp2 HG02559.hp1 NA19062.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009	a0001c0001t0005g0215 a0001c0001t0006g0332 a0001c0001t0009g0132 a0001c0001t0005g0215 a0001c0001t0006g0332 a0001c0001t0009g0132	3	33	0.0909	29	c.587 others(46): Show c.587-5517_587-5516insTATATATATATATATATATATATATATA T	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9			chr8	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(22): Show CCCTCCCTCCCTCCCTCCCTCCTCTTCTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0063 a0002c0063	a0002c0063t0001 a0002c0063t0001	a0002c0063t0001g0038 a0002c0063t0001g0038	1	117	0.0085	29	c.235 others(48): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCTCTTCT TTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGN1_chr21_39337315_39354088	39337386	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0110 a0001c0001t0006g0110	1	405	0.0025	29	c.57 others(40): Show c.5725_*5726insATATATATATATATATATATATATATATA	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4928		chr21	TogoVar
HNF4A_chr20_44350699_44437845	44368160	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	113	0.0088	29	c.49+ others(46): Show c.49+12308_49+12309insATATATATATATATATATATATATTTTT T	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNMT_chr2_137959473_138021364	137978576	G G	GATAATAT others(22): Show GATAATATAGTATTATACAATACATATGAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp2 HG03579.hp2 HG02647.hp2 HG02895.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	3	325	0.0092	29	c.190 others(46): Show c.190+8389_190+8417dupATAATATAGTATTATACAATACATATGA T	HNMT	ENSG00000150540.14	transcript	ENST00000280097.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
HNRNPAB_chr5_178199533_178216163	178203504	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA18967.hp2 NA19066.hp2 HG02027.hp2 NA18967.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0001 a0001c0001t0002g0026	3	53	0.0566	29	c.-12 others(40): Show c.-1260_-1259insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HNRNPAB	ENSG00000197451.12	transcript	ENST00000358344.8	protein_coding		1028		chr5	TogoVar
HNRNPR_chr1_23299688_23349284	23321163	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0311 a0001c0001t0005g0311	1	31	0.0323	29	c.811 others(44): Show c.811+364_811+365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HNRNPR	ENSG00000125944.22	transcript	ENST00000302271.11	protein_coding	7/10			chr1	TogoVar
HOMER2_chr15_82843983_82957720	82860949	T T	TGAGAGAG others(22): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18960.hp1 NA18982.hp2 others(2): Show HG00544.hp1 NA18960.hp1 NA18982.hp2 NA19057.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0008g0005	5	195	0.0256	29	c.388 others(46): Show c.388-1815_388-1814insCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82860982	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	333	0.0030	29	c.388 others(46): Show c.388-1848_388-1847insCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	281	0.0036	29	c.295 others(46): Show c.295-4283_295-4282insATATATATATATATATATATATATATAT A	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03209.hp2 HG01255.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0296 a0001c0001t0001g0151 a0001c0001t0001g0296	2	282	0.0071	29	c.295 others(46): Show c.295-4283_295-4282insAAAAATATATATATATATATATATATAT A	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868542	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18984.hp2 HG03710.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0193 a0001c0001t0001g0149 a0001c0001t0001g0193	2	292	0.0068	29	c.295 others(46): Show c.295-4284_295-4283insTATATATATATATATATATATATATATA T	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82928940	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	65	0.0154	29	c.5+2 others(44): Show c.5+23590_5+23591insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	1/8			chr15	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(22): Show TTCTCTTCTCTTCTCTTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	146	0.0068	29	c.26 others(40): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(22): Show TTCTCTTCTCTTCTCTTCTCTTCTTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	146	0.0068	29	c.26 others(40): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(22): Show TTCTCTTCTCTTCTCTTCTTTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	146	0.0068	29	c.26 others(40): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTTTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(22): Show TTCTCTTCTTTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	146	0.0068	29	c.26 others(40): Show c.2619_*2620insTCTCTTCTTTCTCTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HPCAL1_chr2_10297904_10432604	10359011	G G	GCCCGTCT others(22): Show GCCCGTCTGCATGCTCCCCTCGAGGTTTGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG02451.hp1 others(2): Show HG01109.hp2 HG01496.hp2 HG02451.hp1 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0067 a0001c0001t0001g0193 a0001c0001t0001g0206 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0002g0027 a0001c0001t0003g0299	5	300	0.0167	29	c.-11 others(50): Show c.-110-37805_-110-37804insCGAGGTTTGACCCGTCTGCATGCT CCCCT	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPD_chr12_121834527_121863859	121835030	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	400	0.0025	29	c.46 others(40): Show c.4697_*4698insGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding		4496		chr12	TogoVar
HPSE2_chr10_98452077_99240852	98746197	G G	GAAATACA others(22): Show GAAATACATTTAATTATTATTTTTAGTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(71): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00639.hp2 HG00673.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03490.hp1 HG03540.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18954.hp1 NA18962.hp2 NA18966.hp2 NA18968.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA19003.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19083.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0006t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0013 a0002c0002t0018 a0002c0002t0019 a0005c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0024 others(71): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0003g0027 a0001c0001t0003g0075 a0001c0001t0003g0125 a0001c0001t0003g0131 a0001c0001t0004g0088 a0001c0001t0004g0095 a0001c0001t0005g0028 a0001c0001t0005g0066 a0001c0001t0005g0082 a0001c0001t0005g0091 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0008g0004 a0001c0001t0008g0030 a0001c0001t0008g0067 a0001c0001t0009g0057 a0001c0001t0009g0103 a0001c0001t0014g0102 a0001c0001t0014g0136 a0001c0001t0016g0025 a0001c0001t0017g0054 a0001c0001t0022g0035 a0001c0001t0023g0141 a0001c0001t0024g0132 a0001c0001t0025g0130 a0001c0001t0032g0142 a0001c0006t0001g0100 a0002c0002t0002g0005 a0002c0002t0002g0026 a0002c0002t0002g0029 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0050 a0002c0002t0002g0061 a0002c0002t0002g0076 a0002c0002t0002g0087 a0002c0002t0002g0096 a0002c0002t0002g0126 a0002c0002t0002g0140 a0002c0002t0007g0031 a0002c0002t0007g0032 a0002c0002t0010g0021 a0002c0002t0010g0042 a0002c0002t0010g0056 a0002c0002t0011g0012 a0002c0002t0011g0074 a0002c0002t0011g0081 a0002c0002t0013g0063 a0002c0002t0018g0044 a0002c0002t0019g0089 a0005c0005t0001g0085	74	142	0.5211	29	c.611 others(46): Show c.611-2170_611-2142dupGGAACTAAAAATAATAATTAAATGTATT T	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132205	G G	GAAAGAAA others(22): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0003 a0001c0001t0027g0003	1	135	0.0074	29	c.610 others(48): Show c.610+12032_610+12033insTTTTCTTTTCTTTCTTTCTTTCTTTC TTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HS2ST1_chr1_86909635_87114982	86938110	A A	ATATGTTG others(22): Show ATATGTTGATTTCTTCTTATTTAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02976.hp2 HG02630.hp1 HG02809.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0029 a0001c0001t0013 a0001c0001t0029	a0001c0001t0013g0115 a0001c0001t0013g0116 a0001c0001t0029g0117 a0001c0001t0013g0115 a0001c0001t0013g0116 a0001c0001t0029g0117	3	152	0.0197	29	c.124 others(48): Show c.124+22951_124+22979dupTATGTTGATTTCTTCTTATTTAAGGA AAG	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST1_chr4_11388150_11433894	11429643	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 NA19063.hp1 HG00323.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0218 a0001c0002t0004g0385 a0001c0001t0002g0218 a0001c0002t0004g0385	2	19	0.1053	29	c.-10 others(40): Show c.-1054_-1053insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding		750		chr4	TogoVar
HS3ST2_chr16_22809162_22921338	22818846	C C	CTTCCCTC others(22): Show CTTCCCTCCTTCCTTCCTTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	348	0.0029	29	c.485 others(46): Show c.485+3752_485+3753insTCCCTCCTTCCTTCCTTCCCTCCTTCCT T	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329372	A A	AAGGAAGG others(22): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0229 a0001c0001t0078g0229	1	428	0.0023	29	c.555 others(48): Show c.555-15636_555-15635insAGGAAGGAGAGGAAGGAAGGAAGGAA GGA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25828298	T T	TTCTTTCT others(22): Show TTCTTTCTTTCTTTCCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	134	0.0075	29	c.734 others(50): Show c.734+135149_734+135150insTTTCTTTCTTTCCTCTCTCTCTCT CTCTC	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25857948	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	161	0.0062	29	c.734 others(50): Show c.734+164822_734+164823insTTCTTTTCTTTCTTTCTTTCTTTC TTTCT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25903302	G G	GTGTATAT others(22): Show GTGTATATGTATATGTATATATTATATACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00438.hp1 others(27): Show HG00099.hp1 HG00140.hp1 HG00438.hp1 HG00609.hp2 HG00642.hp2 HG01074.hp1 HG01109.hp1 HG01243.hp2 HG01517.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp1 HG02698.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG06807.hp2 NA18992.hp2 NA18999.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19083.hp2 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0022 a0001c0001t0028 a0001c0001t0036 a0001c0001t0042 a0004c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0153 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0099 a0001c0001t0002g0125 a0001c0001t0003g0065 a0001c0001t0004g0088 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0146 a0001c0001t0006g0007 a0001c0001t0006g0027 a0001c0001t0009g0128 a0001c0001t0014g0119 a0001c0001t0016g0040 a0001c0001t0022g0143 a0001c0001t0028g0140 a0001c0001t0036g0028 a0001c0001t0042g0085 a0004c0008t0001g0074	30	72	0.4167	29	c.734 others(50): Show c.734+210152_734+210153insGTATATGTATATGTATATATTATA TACAT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25903302	G G	GTGTGTAT others(22): Show GTGTGTATGTATATGTATATATTATATACA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	43	0.0233	29	c.734 others(50): Show c.734+210152_734+210153insGTGTATGTATATGTATATATTATA TACAT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25999853	T T	TTATATAT others(22): Show TTATATATATATTATATATTTTATATATAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	150	0.0067	29	c.735 others(50): Show c.735-135731_735-135730insATATATATATATTATATATTTTAT ATATA	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS6ST3_chr13_96085107_96844562	96304714	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18943.hp2 HG01106.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0041 a0001c0001t0010g0019 a0001c0001t0001g0041 a0001c0001t0010g0019	2	111	0.0180	29	c.707 others(50): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1			chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96459100	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	24	0.0417	29	c.707 others(50): Show c.707+367556_707+367557insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSBP1L1_chr18_79959643_79975822	79969331	A A	AAAAGAAA others(22): Show AAAAGAAAGAAAGAAAGAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02300.hp2 HG00738.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	337	0.0059	29	c.214 others(46): Show c.214-1086_214-1085insAGAAAGAAAGAAAGAAAGAAAGAAAGAA A	HSBP1L1	ENSG00000226742.4	transcript	ENST00000451882.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
HSBP1L1_chr18_79959643_79975822	79969394	A A	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	171	0.0058	29	c.214 others(46): Show c.214-1046_214-1045insGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	HSBP1L1	ENSG00000226742.4	transcript	ENST00000451882.3	protein_coding	3/3			chr18	TogoVar
HSCB_chr22_28737039_28762510	28750945	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	112	0.0089	29	c.569 others(44): Show c.569-272_569-271insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HSCB	ENSG00000100209.11	transcript	ENST00000216027.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
HSD11B1L_chr19_5676027_5693522	5691976	T T	TCAGTTCT others(22): Show TCAGTTCTGGCCCAGACAGGGCCTGACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00639.hp1 others(52): Show HG00099.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01952.hp1 HG01975.hp1 HG02055.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03195.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp1 NA18941.hp1 NA18947.hp2 NA18960.hp2 NA18968.hp2 NA18979.hp1 NA19009.hp2 NA19066.hp2 NA19074.hp1 NA19082.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0056	55	380	0.1447	29	c.40 others(40): Show c.4031_*4032insCAGTTCTGGCCCAGACAGGGCCTGACATC	HSD11B1L	ENSG00000167733.14	transcript	ENST00000339423.7	protein_coding		3455		chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48816826	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03540.hp1 HG02895.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	2	379	0.0053	29	c.370 others(46): Show c.370-1686_370-1685insGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96242008	A A	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0269 a0003c0003t0004g0269	1	371	0.0027	29	c.673 others(46): Show c.673-1102_673-1101insCTCTCTTTCTTTCTTTCTTTCTTTCTTT C	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	9/10			chr9	TogoVar
HSD17B7_chr1_162785702_162817823	162816550	A A	ATTTTTTT others(22): Show ATTTTTTTTTCTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	418	0.0024	29	c.41 others(40): Show c.4130_*4131insTTTTTTTTTCTTTTTTTTTTTTTTTTTTT	HSD17B7	ENSG00000132196.16	transcript	ENST00000254521.8	protein_coding		3728		chr1	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTTT others(22): Show CTCTCTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0159 a0002c0002t0003g0159	1	79	0.0127	29	c.-35 others(40): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAAAAGAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02896.hp1 HG02897.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0031 a0001c0001t0004g0009 a0001c0001t0001g0031 a0001c0001t0004g0009	3	81	0.0370	29	c.-35 others(40): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSF1_chr8_144286604_144319720	144313683	C C	CTCCCCGC others(22): Show CTCCCCGCGCCGCCTCCCCGCCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	196	0.0051	29	c.124 others(44): Show c.1248+67_1248+68insTCCCCGCGCCGCCTCCCCGCCTCCCCGCG	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12			chr8	TogoVar
HSF1_chr8_144286604_144319720	144313736	G G	GCGCCGCG others(22): Show GCGCCGCGCCGCCTCCCCGCCTCCCCGCGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	213	0.0047	29	c.124 others(46): Show c.1249-106_1249-105insGCGCCGCCTCCCCGCCTCCCCGCGCCGC C	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144313754	G G	GCGCCGCC others(22): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0254 a0001c0001t0008g0254	1	253	0.0040	29	c.124 others(44): Show c.1249-91_1249-90insGCCGCCTCCCCGCGCCGCCTCCCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar

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