Joint Open Genome and Omics Platform (JoGo)

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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
HFM1_chr1_91255766_91409837	91408663	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 NA19004.hp2 NA19068.hp1 others(1): Show HG00558.hp2 NA19004.hp2 NA19068.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0199 a0001c0001t0001g0283 a0001c0002t0001g0031 others(1): Show a0001c0001t0001g0199 a0001c0001t0001g0283 a0001c0002t0001g0031 a0001c0002t0001g0033	4	362	0.0111	28	c.-38 others(39): Show c.-3894_-3893insAGAAAGAAAGAAAGAAAGAAAGAAAGAA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding		3827		chr1	TogoVar
HGD_chr3_120623172_120687239	120624712	G G	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	374	0.0027	28	c.36 others(39): Show c.3667_*3668insTCTCTCTCTCTCTCTCTCTCTCTCTCTC	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding		3459		chr3	TogoVar
HGD_chr3_120623172_120687239	120630798	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	374	0.0027	28	c.118 others(47): Show c.1189-2297_1189-2270dupTATATATATATATATATATATATATA TA	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	13/13			chr3	TogoVar
HGF_chr7_81694010_81775047	81697198	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02818.hp2 NA18974.hp1 HG02451.hp1 HG02818.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0004 a0001c0001t0002 a0001c0001t0005 a0001c0002t0004	a0001c0001t0002g0086 a0001c0001t0005g0133 a0001c0002t0004g0098 a0001c0001t0002g0086 a0001c0001t0005g0133 a0001c0002t0004g0098	3	272	0.0110	28	c.53 others(39): Show c.5382_*5383insTATATATATATATATATATATATATATA	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding		1811		chr7	TogoVar
HGF_chr7_81694010_81775047	81697231	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0209 a0001c0001t0008g0209	1	272	0.0037	28	c.53 others(39): Show c.5349_*5350insTTATATATATATATATATATATATATAT	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding		1778		chr7	TogoVar
HGSNAT_chr8_43135464_43207855	43181088	A A	AGAGGGAG others(21): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18982.hp1 HG03540.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0171 a0001c0001t0001g0123 a0001c0001t0001g0171	2	234	0.0086	28	c.101 others(47): Show c.1013-1053_1013-1026dupGGAGAGGGAGAGGGAGAGGGAGAGGG AG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43181094	A A	AGAGGGAG others(21): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG02818.hp1 others(2): Show HG00735.hp2 HG01109.hp1 HG02818.hp1 HG03471.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0079 a0001c0001t0001g0139 a0001c0001t0001g0145 others(2): Show a0001c0001t0001g0079 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0184 a0001c0001t0002g0059	5	234	0.0214	28	c.101 others(47): Show c.1013-1047_1013-1020dupGGAGAGGGAGAGGGAGAGGGAGAGGG AG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43181106	A A	AGAGGGAG others(21): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp1 HG01106.hp1 others(3): Show HG00597.hp1 HG01081.hp1 HG01106.hp1 HG02647.hp2 NA18747.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0002g0035 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0074	6	234	0.0256	28	c.101 others(47): Show c.1013-1035_1013-1008dupGGAGAGGGAGAGGGAGAGGGAGAGGG AG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(21): Show TATATATATATACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	268	0.0037	28	c.-21 others(39): Show c.-2190_-2189insATATATATATACACACACACACACACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	268	0.0037	28	c.-21 others(39): Show c.-2190_-2189insATATATATATATATATATATATATACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0015 a0001c0002t0011g0016 a0001c0002t0011g0015 a0001c0002t0011g0016	2	268	0.0075	28	c.-21 others(39): Show c.-2190_-2189insATATATATATATATATATATATATATAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210334178	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0141 a0001c0002t0008g0141	1	268	0.0037	28	c.-44 others(45): Show c.-44+5094_-44+5095insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210336287	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01981.hp2 HG02293.hp1 others(2): Show HG00597.hp1 HG01981.hp2 HG02293.hp1 HG03491.hp2 HG03492.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0006 a0001c0002t0004 a0003c0004t0006 others(1): Show a0001c0001t0006 a0001c0002t0004 a0003c0004t0006 a0003c0004t0017	a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0002t0004g0085 others(2): Show a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0002t0004g0085 a0003c0004t0006g0136 a0003c0004t0017g0134	5	268	0.0187	28	c.-44 others(45): Show c.-44+7206_-44+7207insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210526367	G G	GTTTTGTT others(21): Show GTTTTGTTTTGTTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01261.hp2 HG03492.hp2 others(2): Show HG01175.hp1 HG01261.hp2 HG03492.hp2 NA19062.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0002t0001	a0001c0001t0001g0093 a0001c0001t0003g0100 a0001c0001t0004g0163 others(2): Show a0001c0001t0001g0093 a0001c0001t0003g0100 a0001c0001t0004g0163 a0001c0001t0022g0113 a0001c0002t0001g0024	5	268	0.0187	28	c.104 others(49): Show c.1043+13183_1043+13184insGTTTTGTTTTGTTTTTTTTTTTTT TTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210601937	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19090.hp1 homoSapiens_chm13v2.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0016 a0001c0001t0006 a0001c0001t0016	a0001c0001t0006g0108 a0001c0001t0016g0222 a0001c0001t0006g0108 a0001c0001t0016g0222	2	268	0.0075	28	c.124 others(49): Show c.1245+13858_1245+13859insAGAGAGAGAGAGAGAGAGAGAGAG AGAG	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210654023	A A	AGAATAGT others(21): Show AGAATAGTGTGACGGGAATAGTGTGACGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	268	0.0037	28	c.139 others(49): Show c.1391-20240_1391-20239insCGGGAATAGTGTGACGGGAATAGT GTGA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHIPL1_chr14_99640129_99685569	99661421	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01978.hp2 others(14): Show HG01070.hp1 HG01071.hp1 HG01978.hp2 HG02135.hp1 HG02273.hp2 HG02280.hp2 HG02630.hp1 HG02809.hp1 HG02976.hp1 HG03225.hp2 NA18906.hp1 NA18942.hp1 NA18966.hp2 NA18983.hp1 NA19010.hp2 NA19043.hp1 NA19086.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0002c0016 a0016c0009	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(6): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0003t0015 a0002c0001t0001 a0002c0004t0005 a0002c0016t0003 a0016c0009t0002	a0001c0002t0002g0004 a0001c0002t0002g0158 a0001c0002t0003g0009 others(12): Show a0001c0002t0002g0004 a0001c0002t0002g0158 a0001c0002t0003g0009 a0001c0002t0004g0113 a0001c0002t0004g0123 a0001c0003t0002g0101 a0001c0003t0002g0321 a0001c0003t0002g0343 a0001c0003t0015g0328 a0001c0003t0015g0330 a0002c0001t0001g0177 a0002c0004t0005g0102 a0002c0004t0005g0103 a0002c0016t0003g0037 a0016c0009t0002g0342	17	374	0.0455	28	c.150 others(47): Show c.1502+1018_1502+1045dupAGGAAGGAAGGAAGGAAGGAAGGAAG GA	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HIF1AN_chr10_100530943_100564998	100563333	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	28	c.15 others(41): Show c.15196_*15197insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	HIF1AN	ENSG00000166135.14	transcript	ENST00000299163.7	protein_coding		3336		chr10	TogoVar
HIF3A_chr19_46292042_46348433	46324917	C C	CATATATA others(21): Show CATATATATATACACATATATATATACAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19000.hp1 HG01891.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0049 a0001c0001t0031 a0001c0001t0049	a0001c0001t0031g0303 a0001c0001t0049g0255 a0001c0001t0031g0303 a0001c0001t0049g0255	2	418	0.0048	28	c.133 others(45): Show c.1336-606_1336-579dupCACATATATATATACATATATATATATA	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
HIF3A_chr19_46292042_46348433	46324945	T T	TATATATA others(21): Show TATATATATATACACACATATATATATAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0358 a0001c0006t0025g0358	1	418	0.0024	28	c.133 others(45): Show c.1336-579_1336-578insCACACATATATATATACATATATATATA	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
HIKESHI_chr11_86297240_86350943	86308559	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG02027.hp2 others(10): Show HG01074.hp1 HG01168.hp2 HG02027.hp2 HG02083.hp2 HG02738.hp2 HG02809.hp2 HG03041.hp1 HG03516.hp2 HG03831.hp2 NA18953.hp2 NA19077.hp2 NA19087.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0052 others(10): Show a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0366 a0001c0001t0001g0372 a0001c0001t0002g0173	13	398	0.0327	28	c.268 others(45): Show c.268+2098_268+2099insTTATTTATTTATTTATTTATTTATTTAT	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIKESHI_chr11_86297240_86350943	86318303	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03688.hp2 NA18953.hp2 others(2): Show HG01257.hp2 HG03688.hp2 NA18953.hp2 NA18974.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0096	5	398	0.0126	28	c.268 others(47): Show c.268+11841_268+11842insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIP1_chr7_75528298_75743941	75595187	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	254	0.0039	28	c.185 others(45): Show c.185-2701_185-2674dupAAAGAAAGAAAGAAAGAAAGAAAGAAAG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	2/30			chr7	TogoVar
HIPK3_chr11_33252381_33362023	33301821	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02080.hp1 HG04204.hp2 others(1): Show HG01993.hp2 HG02080.hp1 HG04204.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0164 a0001c0001t0001g0174 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0194	4	342	0.0117	28	c.109 others(49): Show c.1097+14317_1097+14344dupACACACACACACACACACACACAC ACAC	HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIPK3_chr11_33252381_33362023	33310281	T T	TATCTTAT others(21): Show TATCTTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02300.hp2 HG00423.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0193 a0001c0001t0004g0021 a0001c0001t0001g0193 a0001c0001t0004g0021	2	342	0.0059	28	c.109 others(49): Show c.1098-18229_1098-18228insATCTTATCTATCTATCTATCTATC TATC	HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	2/16			chr11	TogoVar
HIPK3_chr11_33252381_33362023	33310281	T T	TTATCTAT others(21): Show TTATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00621.hp2 others(9): Show HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00741.hp2 NA18969.hp1 NA18981.hp1 NA18986.hp1 NA19056.hp1 NA19064.hp2 NA19068.hp2 NA19089.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0004 a0001c0001t0001g0129 a0001c0001t0001g0132 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0020g0170	12	342	0.0351	28	c.109 others(49): Show c.1098-18203_1098-18202insTCTATCTATCTATCTATCTATCTA TCTA	HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIVEP1_chr6_12007312_12169999	12046845	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	344	0.0029	28	c.40+ others(45): Show c.40+31181_40+31208dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142793673	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0212 a0001c0011t0006g0212	1	288	0.0035	28	c.-52 others(49): Show c.-527-10059_-527-10058insGAGAGAGAAAGAAAGAAAGAAAGA AAGA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41516181	G G	GGCGGCCC others(21): Show GGCGGCCCCTTCCCAGGGCCCTTGCAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(107): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18961.hp2 NA18974.hp1 NA18974.hp2 NA18986.hp1 NA18986.hp2 NA19003.hp1 NA19003.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19076.hp1 NA19076.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(25): Show a0001 a0002 a0004 a0005 a0006 a0007 a0010 a0012 a0013 a0014 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036	a0001c0001 a0001c0003 a0001c0004 others(32): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0032 a0001c0035 a0002c0002 a0004c0005 a0005c0006 a0006c0034 a0007c0008 a0010c0016 a0012c0022 a0012c0023 a0013c0015 a0014c0014 a0017c0028 a0017c0029 a0018c0030 a0019c0036 a0020c0020 a0021c0027 a0022c0042 a0023c0024 a0024c0046 a0025c0019 a0026c0033 a0029c0045 a0030c0044 a0031c0039 a0032c0038 a0033c0040 a0034c0037 a0035c0031 a0036c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(85): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0060 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0083 a0001c0003t0002 a0001c0003t0028 a0001c0003t0031 a0001c0003t0034 a0001c0003t0036 a0001c0003t0038 a0001c0003t0044 a0001c0004t0006 a0001c0004t0007 a0001c0004t0012 a0001c0004t0081 a0001c0004t0082 a0001c0004t0084 a0001c0004t0085 a0001c0011t0004 a0001c0011t0021 a0001c0032t0080 a0001c0035t0075 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0011 a0002c0002t0013 a0002c0002t0022 a0002c0002t0023 a0002c0002t0026 a0002c0002t0029 a0002c0002t0032 a0002c0002t0033 a0002c0002t0035 a0002c0002t0037 a0002c0002t0045 a0002c0002t0056 a0002c0002t0062 a0002c0002t0065 a0002c0002t0067 a0004c0005t0001 a0004c0005t0017 a0004c0005t0020 a0004c0005t0066 a0004c0005t0070 a0005c0006t0030 a0005c0006t0041 a0005c0006t0057 a0005c0006t0058 a0006c0034t0010 a0007c0008t0007 a0010c0016t0003 a0012c0022t0004 a0012c0023t0015 a0013c0015t0014 a0014c0014t0040 a0014c0014t0079 a0017c0028t0061 a0017c0029t0064 a0018c0030t0001 a0019c0036t0011 a0020c0020t0063 a0021c0027t0054 a0022c0042t0039 a0023c0024t0010 a0024c0046t0055 a0025c0019t0015 a0026c0033t0025 a0029c0045t0086 a0030c0044t0027 a0031c0039t0048 a0032c0038t0019 a0033c0040t0071 a0034c0037t0011 a0035c0031t0003 a0036c0021t0008	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 others(107): Show a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0062 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0002g0011 a0001c0001t0005g0035 a0001c0001t0005g0055 a0001c0001t0012g0010 a0001c0001t0017g0118 a0001c0001t0018g0120 a0001c0001t0018g0130 a0001c0001t0019g0096 a0001c0001t0060g0054 a0001c0001t0068g0124 a0001c0001t0072g0006 a0001c0001t0073g0116 a0001c0001t0074g0106 a0001c0001t0076g0098 a0001c0001t0077g0131 a0001c0001t0078g0004 a0001c0001t0083g0072 a0001c0003t0002g0009 a0001c0003t0002g0031 a0001c0003t0002g0066 a0001c0003t0002g0110 a0001c0003t0002g0133 a0001c0003t0028g0029 a0001c0003t0031g0065 a0001c0003t0034g0107 a0001c0003t0036g0112 a0001c0003t0038g0097 a0001c0003t0044g0030 a0001c0004t0006g0088 a0001c0004t0007g0087 a0001c0004t0012g0108 a0001c0004t0012g0113 a0001c0004t0081g0104 a0001c0004t0082g0129 a0001c0004t0084g0105 a0001c0004t0085g0128 a0001c0011t0004g0033 a0001c0011t0004g0041 a0001c0011t0021g0040 a0001c0032t0080g0063 a0001c0035t0075g0069 a0002c0002t0002g0114 a0002c0002t0002g0126 a0002c0002t0003g0048 a0002c0002t0008g0017 a0002c0002t0008g0127 a0002c0002t0011g0121 a0002c0002t0013g0099 a0002c0002t0013g0115 a0002c0002t0022g0084 a0002c0002t0023g0046 a0002c0002t0026g0100 a0002c0002t0029g0059 a0002c0002t0032g0103 a0002c0002t0033g0132 a0002c0002t0035g0123 a0002c0002t0037g0094 a0002c0002t0045g0015 a0002c0002t0056g0134 a0002c0002t0062g0014 a0002c0002t0065g0089 a0002c0002t0067g0049 a0004c0005t0001g0007 a0004c0005t0017g0012 a0004c0005t0020g0001 a0004c0005t0066g0016 a0004c0005t0070g0060 a0005c0006t0030g0045 a0005c0006t0041g0091 a0005c0006t0057g0023 a0005c0006t0058g0021 a0006c0034t0010g0073 a0007c0008t0007g0020 a0007c0008t0007g0061 a0007c0008t0007g0067 a0010c0016t0003g0083 a0010c0016t0003g0092 a0012c0022t0004g0074 a0012c0023t0015g0068 a0013c0015t0014g0024 a0013c0015t0014g0032 a0014c0014t0040g0075 a0014c0014t0079g0053 a0017c0028t0061g0071 a0017c0029t0064g0111 a0018c0030t0001g0125 a0019c0036t0011g0095 a0020c0020t0063g0022 a0021c0027t0054g0076 a0022c0042t0039g0008 a0023c0024t0010g0081 a0024c0046t0055g0044 a0025c0019t0015g0057 a0026c0033t0025g0090 a0029c0045t0086g0047 a0030c0044t0027g0005 a0031c0039t0048g0119 a0032c0038t0019g0026 a0033c0040t0071g0117 a0034c0037t0011g0101 a0035c0031t0003g0077 a0036c0021t0008g0070	110	134	0.8209	28	c.547 others(47): Show c.5470+2220_5470+2221insTCCTGCAAGGGCCCTGGGAAGGGGCC GC	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	7/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41665707	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03453.hp1 HG01433.hp1 HG03453.hp1	a0003 a0007 a0003 a0007	a0003c0007 a0007c0008 a0003c0007 a0007c0008	a0003c0007t0009 a0007c0008t0007 a0003c0007t0009 a0007c0008t0007	a0003c0007t0009g0085 a0007c0008t0007g0067 a0003c0007t0009g0085 a0007c0008t0007g0067	2	134	0.0149	28	c.-72 others(49): Show c.-721+35181_-721+35208dupGTGTGTGTGTGTGTGTGTGTGTGT GTGT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	2/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41722403	G G	GCCTGCCT others(21): Show GCCTGCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03710.hp2 HG01168.hp1 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0044 a0001c0003t0002 a0001c0003t0044	a0001c0003t0002g0031 a0001c0003t0044g0030 a0001c0003t0002g0031 a0001c0003t0044g0030	2	134	0.0149	28	c.-80 others(49): Show c.-800-21409_-800-21408insAAGGAAGGAAGGAAGGAAGGAAGG CAGG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	280	0.0036	28	c.-28 others(39): Show c.-2863_-2862insAAAAAAATATATATATATATATATATAT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp2 NA18979.hp1 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0049 a0001c0003t0002g0113 a0001c0002t0002g0049 a0001c0003t0002g0113	2	280	0.0071	28	c.-28 others(39): Show c.-2863_-2862insAAAAATATATATATATATATATATATAT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0097	1	280	0.0036	28	c.-28 others(39): Show c.-2863_-2862insAAATATATATATATATATATATATATAT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69332357	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	280	0.0036	28	c.76- others(45): Show c.76-11443_76-11442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
HK1_chr10_69313847_69406882	69332357	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	296	0.0034	28	c.64- others(45): Show c.64-11443_64-11442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT	HK1	ENSG00000156515.25	transcript	ENST00000359426.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
HK2_chr2_74829127_74898359	74878432	T T	TGTGTGTG others(21): Show TGTGTGTGCGCGCACGCACATGCGTGTGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG02922.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0021 a0002c0004 a0002c0021	a0002c0004t0010 a0002c0021t0006 a0002c0004t0010 a0002c0021t0006	a0002c0004t0010g0097 a0002c0021t0006g0214 a0002c0004t0010g0097 a0002c0021t0006g0214	2	394	0.0051	28	c.103 others(45): Show c.1032-246_1032-245insGCACGCACATGCGTGTGCGTGTGTGCGC	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HK2_chr2_74829127_74898359	74882605	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01256.hp2 HG02015.hp2 others(16): Show HG00544.hp2 HG01256.hp2 HG02015.hp2 HG02056.hp2 HG02155.hp2 HG02683.hp2 HG03453.hp1 HG03486.hp1 HG03704.hp2 HG04115.hp2 NA18940.hp2 NA18964.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18999.hp1 NA19002.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0003c0015 others(2): Show a0001c0001 a0003c0003 a0003c0015 a0003c0017 a0010c0031	a0001c0001t0002 a0001c0001t0005 a0001c0001t0040 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0040 a0003c0003t0003 a0003c0003t0008 a0003c0015t0001 a0003c0017t0014 a0010c0031t0003	a0001c0001t0002g0011 a0001c0001t0002g0080 a0001c0001t0002g0211 others(16): Show a0001c0001t0002g0011 a0001c0001t0002g0080 a0001c0001t0002g0211 a0001c0001t0002g0225 a0001c0001t0002g0292 a0001c0001t0002g0363 a0001c0001t0005g0328 a0001c0001t0040g0164 a0003c0003t0003g0019 a0003c0003t0003g0144 a0003c0003t0003g0146 a0003c0003t0003g0154 a0003c0003t0003g0201 a0003c0003t0008g0383 a0003c0003t0008g0384 a0003c0015t0001g0021 a0003c0015t0001g0064 a0003c0017t0014g0250 a0010c0031t0003g0203	19	394	0.0482	28	c.183 others(45): Show c.1839+382_1839+383insTATATATATATATATATATATATATATA	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HLA-A_chr6_29937532_29950870	29949602	C C	CATGCATG others(21): Show CATGCATGTATGTATGTATGTATGTATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02723.hp1 HG02809.hp1 others(1): Show HG02572.hp2 HG02723.hp1 HG02809.hp1 HG03139.hp2	a0009 a0019 a0009 a0019	a0009c0009 a0019c0021 a0009c0009 a0019c0021	a0009c0009t0005 a0019c0021t0010 a0009c0009t0005 a0019c0021t0010	a0009c0009t0005g0021 a0019c0021t0010g0015 a0009c0009t0005g0021 a0019c0021t0010g0015	4	418	0.0096	28	c.41 others(39): Show c.4147_*4148insATGCATGTATGTATGTATGTATGTATGT	HLA-A	ENSG00000206503.14	transcript	ENST00000376809.10	protein_coding		3733		chr6	TogoVar
HLA-A_chr6_29937532_29950870	29949602	C C	CATGTATG others(21): Show CATGTATGTATGTATGTATGTATGTATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01515.hp1 others(7): Show HG01081.hp1 HG01123.hp2 HG01515.hp1 HG02135.hp2 HG04204.hp2 NA18941.hp1 NA18941.hp2 NA18970.hp2 NA18971.hp2 NA19000.hp2	a0001 a0009 a0035 others(1): Show a0001 a0009 a0035 a0039	a0001c0001 a0009c0009 a0035c0040 others(1): Show a0001c0001 a0009c0009 a0035c0040 a0039c0038	a0001c0001t0002 a0009c0009t0005 a0035c0040t0005 others(1): Show a0001c0001t0002 a0009c0009t0005 a0035c0040t0005 a0039c0038t0002	a0001c0001t0002g0002 a0001c0001t0002g0026 a0009c0009t0005g0005 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0009c0009t0005g0005 a0035c0040t0005g0005 a0039c0038t0002g0022	10	418	0.0239	28	c.41 others(39): Show c.4147_*4148insATGTATGTATGTATGTATGTATGTATGT	HLA-A	ENSG00000206503.14	transcript	ENST00000376809.10	protein_coding		3733		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32577251	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18962.hp1 NA18988.hp1 others(3): Show NA18950.hp2 NA18962.hp1 NA18988.hp1 NA18994.hp1 NA19001.hp2 NA19055.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0007 a0009c0009t0007	a0009c0009t0007g0003 a0009c0009t0007g0003	6	208	0.0289	28	c.18 others(39): Show c.1839_*1840insTATATATATATATATATATATATATATA	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding		1523		chr6	TogoVar
HLA-G_chr6_29822825_29836021	29831449	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG01168.hp1 others(3): Show HG00280.hp2 HG00558.hp2 HG01168.hp1 HG02004.hp1 HG02922.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0019 a0001c0001t0003g0003 a0001c0001t0003g0019	6	479	0.0125	28	c.71 others(37): Show c.710_*711insTTTTTTTTTTTTTTTTTTTTTTTTTTTG	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding		429		chr6	TogoVar
HLCS_chr21_36743626_36971669	36823610	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0226	1	258	0.0039	28	c.189 others(49): Show c.1893-56353_1893-56326dupACACACACACACACACACACACAC ACAC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36868270	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0033 a0008c0011t0033	a0008c0011t0033g0139 a0008c0011t0033g0139	1	258	0.0039	28	c.189 others(49): Show c.1892+28589_1892+28590insTTTCTTTCTTTCTTTCTTTCTTTC TTTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp2 HG02486.hp1 others(11): Show HG01106.hp2 HG01884.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG03041.hp2 HG03471.hp1 HG03516.hp2 NA18522.hp1 NA18971.hp2 NA18977.hp2 NA19009.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0018 others(1): Show a0001c0001 a0001c0003 a0001c0018 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0049 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0049 a0001c0001t0065 a0001c0001t0066 a0001c0001t0105 a0001c0001t0106 a0001c0003t0003 a0001c0018t0004 a0002c0002t0043 a0002c0002t0045 a0002c0002t0048	a0001c0001t0002g0193 a0001c0001t0002g0232 a0001c0001t0002g0237 others(11): Show a0001c0001t0002g0193 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0004g0045 a0001c0001t0049g0233 a0001c0001t0065g0252 a0001c0001t0066g0059 a0001c0001t0105g0053 a0001c0001t0106g0253 a0001c0003t0003g0204 a0001c0018t0004g0060 a0002c0002t0043g0152 a0002c0002t0045g0151 a0002c0002t0048g0144	14	258	0.0543	28	c.189 others(49): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC TTTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GGAAGGAA others(21): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01884.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0022 a0001c0004t0067 a0001c0001t0022 a0001c0004t0067	a0001c0001t0022g0187 a0001c0004t0067g0067 a0001c0001t0022g0187 a0001c0004t0067g0067	2	258	0.0078	28	c.189 others(49): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC CTTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HMBOX1_chr8_28885395_29058262	29003555	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02055.hp2 HG02056.hp1 others(19): Show HG00621.hp2 HG02055.hp2 HG02056.hp1 HG02738.hp1 HG03041.hp1 HG03209.hp2 HG03516.hp2 NA18747.hp1 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18962.hp1 NA18965.hp2 NA18982.hp2 NA18988.hp1 NA19064.hp2 NA19077.hp2 NA19079.hp1 NA19083.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0023	a0001c0001t0001g0282 a0001c0001t0001g0289 a0001c0001t0001g0303 others(19): Show a0001c0001t0001g0282 a0001c0001t0001g0289 a0001c0001t0001g0303 a0001c0001t0001g0320 a0001c0001t0002g0172 a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0247 a0001c0001t0005g0200 a0001c0001t0006g0331 a0001c0001t0006g0335 a0001c0001t0006g0341 a0001c0001t0008g0097 a0001c0001t0008g0340 a0001c0001t0009g0128 a0001c0001t0010g0302 a0001c0001t0011g0210 a0001c0001t0011g0314 a0001c0001t0016g0332 a0001c0001t0023g0333	22	344	0.0640	28	c.587 others(45): Show c.587-5495_587-5494insATATATATATATATATATATATATATAT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMBS_chr11_119079881_119098549	119089306	A A	AGTCTCTT others(21): Show AGTCTCTTGCTGGGACCCTAGTATGCTAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	444	0.0023	28	c.266 others(41): Show c.266+52_266+79dupTAGTATGCTAGGTCTCTTGCTGGGACCC	HMBS	ENSG00000256269.11	transcript	ENST00000652429.1	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
HMCN1_chr1_185729391_186195949	186063096	A A	ATATATAT others(21): Show ATATATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0008 a0014c0012t0008	a0014c0012t0008g0001 a0014c0012t0008g0001	1	92	0.0109	28	c.751 others(45): Show c.7513+503_7513+504insATATATATGTATATATATATGTATATAT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	48/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN2_chr9_130260760_130439123	130293279	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA20300.hp2 HG03209.hp1 NA20300.hp2	a0002 a0014 a0002 a0014	a0002c0068 a0014c0110 a0002c0068 a0014c0110	a0002c0068t0001 a0014c0110t0001 a0002c0068t0001 a0014c0110t0001	a0002c0068t0001g0229 a0014c0110t0001g0058 a0002c0068t0001g0229 a0014c0110t0001g0058	2	258	0.0078	28	c.613 others(45): Show c.613-1555_613-1554insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	4/97		INFO_REALIGN_3_PRIME	chr9	TogoVar

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