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
HOMEZ_chr14_23267422_23291132	23280015	T T	TGATGAAT others(8): Show TGATGAATATCTGGAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0122 a0002c0006t0002g0122	1	394	0.0025	15	c.41- others(30): Show c.41-2843_41-2829dupTTCCAGATATTCATC	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280266	C C	CAAGTCAG others(8): Show CAAGTCAGCCTTGGAA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0123 a0001c0011t0006g0123	1	394	0.0025	15	c.41- others(30): Show c.41-3094_41-3080dupTTCCAAGGCTGACTT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01071.hp1 others(22): Show HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01255.hp2 HG01346.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG03654.hp2 HG03831.hp1 NA18940.hp1 NA18942.hp1 NA18985.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA19000.hp2 NA19088.hp1 NA21309.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0019	a0001c0001 a0001c0034 a0002c0002 others(2): Show a0001c0001 a0001c0034 a0002c0002 a0010c0015 a0019c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0038 a0001c0001t0047 a0001c0034t0012 a0002c0002t0001 a0010c0015t0001 a0019c0023t0021	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0018 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0107 a0001c0001t0001g0211 a0001c0001t0002g0102 a0001c0001t0026g0069 a0001c0001t0038g0103 a0001c0001t0047g0156 a0001c0034t0012g0062 a0002c0002t0001g0086 a0010c0015t0001g0033 a0010c0015t0001g0088 a0019c0023t0021g0210	25	394	0.0635	15	c.41- others(30): Show c.41-3538_41-3524dupTAAAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTATTTT others(8): Show ATTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00642.hp2 others(17): Show HG00323.hp1 HG00423.hp2 HG00642.hp2 HG01074.hp2 HG01123.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02129.hp2 NA18963.hp2 NA19058.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19089.hp2 NA20129.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0010 a0005c0007 others(1): Show a0002c0002 a0003c0010 a0005c0007 a0005c0017	a0002c0002t0002 a0003c0010t0014 a0005c0007t0002 others(1): Show a0002c0002t0002 a0003c0010t0014 a0005c0007t0002 a0005c0017t0002	a0002c0002t0002g0002 a0002c0002t0002g0158 a0002c0002t0002g0253 others(4): Show a0002c0002t0002g0002 a0002c0002t0002g0158 a0002c0002t0002g0253 a0002c0002t0002g0276 a0003c0010t0014g0251 a0005c0007t0002g0252 a0005c0017t0002g0047	20	394	0.0508	15	c.41- others(30): Show c.41-3568_41-3554dupAATAAAATAAAATAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(8): Show ATTTTATTATTTTATT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03579.hp2 HG02965.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0072 a0002c0002t0002g0256 a0001c0001t0001g0072 a0002c0002t0002g0256	2	394	0.0051	15	c.41- others(30): Show c.41-3554_41-3553insAATAAAATAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(8): Show ATTTTATTTTATTATT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG02622.hp2 others(3): Show HG01243.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG04228.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0007c0009 a0008c0013 a0001c0001 a0007c0009 a0008c0013	a0001c0001t0001 a0007c0009t0009 a0008c0013t0003 a0001c0001t0001 a0007c0009t0009 a0008c0013t0003	a0001c0001t0001g0032 a0007c0009t0009g0011 a0008c0013t0003g0056 a0001c0001t0001g0032 a0007c0009t0009g0011 a0008c0013t0003g0056	6	394	0.0152	15	c.41- others(30): Show c.41-3554_41-3553insAATAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOOK1_chr1_59809949_59881322	59812125	T T	TTCTGAAT others(8): Show TTCTGAATAATAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	252	0.0040	15	c.-29 others(26): Show c.-2993_-2992insTCTGAATAATAATAC	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding		2823		chr1	TogoVar
HOOK1_chr1_59809949_59881322	59855942	T T	TTTTAATT others(8): Show TTTTAATTTTTATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0194 a0001c0001t0013g0194	1	252	0.0040	15	c.124 others(34): Show c.1243-2485_1243-2484insTTAATTTTTATATAT	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
HOOK1_chr1_59809949_59881322	59855962	A A	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0213 a0001c0001t0043g0213	1	252	0.0040	15	c.124 others(34): Show c.1243-2466_1243-2465insAAAAAAAAAATATAT	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	12/21			chr1	TogoVar
HOOK1_chr1_59809949_59881322	59855965	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0195 a0001c0001t0038g0195	1	252	0.0040	15	c.124 others(34): Show c.1243-2463_1243-2462insAAAAAAAAAAAAAAT	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	12/21			chr1	TogoVar
HOOK2_chr19_12758003_12780552	12761720	G G	GGGTTTCA others(8): Show GGGTTTCACCATGTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	360	0.0028	15	c.15 others(26): Show c.1561_*1562insTAACATGGTGAAACC	HOOK2	ENSG00000095066.12	transcript	ENST00000397668.8	protein_coding		1282		chr19	TogoVar
HOOK3_chr8_42891978_43035535	42943076	G G	GTTTTGTT others(8): Show GTTTTGTTTTTTTCTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03491.hp1 HG01261.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0044 a0001c0001t0039 a0001c0001t0044	a0001c0001t0039g0001 a0001c0001t0044g0002 a0001c0001t0039g0001 a0001c0001t0044g0002	2	162	0.0124	15	c.268 others(30): Show c.268-225_268-224insCTTTTTTGTTTTTTT	HOOK3	ENSG00000168172.9	transcript	ENST00000307602.9	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
HOOK3_chr8_42891978_43035535	42970782	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp1 HG02895.hp1 others(1): Show HG02451.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0007 a0001c0001t0003 a0001c0002t0007	a0001c0001t0003g0003 a0001c0002t0007g0019 a0001c0002t0007g0020 others(1): Show a0001c0001t0003g0003 a0001c0002t0007g0019 a0001c0002t0007g0020 a0001c0002t0007g0021	4	162	0.0247	15	c.112 others(34): Show c.1123-2500_1123-2486dupTTTTTTTTTTTTTTT	HOOK3	ENSG00000168172.9	transcript	ENST00000307602.9	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
HOOK3_chr8_42891978_43035535	43007016	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0002 a0001c0001t0044g0002	1	162	0.0062	15	c.165 others(32): Show c.1656-817_1656-803dupTTTTTTTTTTTTTTT	HOOK3	ENSG00000168172.9	transcript	ENST00000307602.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
HORMAD2_chr22_30075464_30182075	30083594	A A	AGAATAAT others(8): Show AGAATAATTAGAGGCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	350	0.0029	15	c.-38 others(32): Show c.-38+3107_-38+3121dupTAATTAGAGGCTGAA	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30125216	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp2 HG06807.hp1 others(1): Show HG02055.hp1 HG03130.hp2 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0063 a0001c0001t0002g0015 a0001c0001t0002g0021 others(1): Show a0001c0001t0001g0063 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0055	4	350	0.0114	15	c.819 others(32): Show c.819+3014_819+3028dupTTTTTTTTTTTTTTT	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30180920	C C	CCCTCTCC others(8): Show CCCTCTCCTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02896.hp2 HG02897.hp2 others(1): Show HG01978.hp2 HG02896.hp2 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0268	4	350	0.0114	15	c.47 others(26): Show c.4753_*4754insCCTCTCCTCTCCTCT	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding		3846		chr22	TogoVar
HOXA13_chr7_27189364_27205091	27202822	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01109.hp2 HG01256.hp1 others(20): Show HG00609.hp2 HG01109.hp2 HG01256.hp1 HG01361.hp2 HG01934.hp1 HG01952.hp2 HG02083.hp2 HG02155.hp1 HG02615.hp1 HG02698.hp2 HG03669.hp1 HG03831.hp2 NA18940.hp1 NA18943.hp2 NA18966.hp2 NA18973.hp2 NA18983.hp1 NA18985.hp2 NA19007.hp1 NA19010.hp1 NA19065.hp2 NA19078.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0008 a0005c0006 a0001c0001 a0004c0008 a0005c0006	a0001c0001t0001 a0001c0001t0025 a0004c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0025 a0004c0008t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0025g0035 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0025g0035 a0004c0008t0001g0046 a0005c0006t0001g0026	23	416	0.0553	15	c.-27 others(26): Show c.-2746_-2745insTTTTTTTTTTTTTTT	HOXA13	ENSG00000106031.9	transcript	ENST00000649031.1	protein_coding		2732		chr7	TogoVar
HOXA13_chr7_27189364_27205091	27202838	A A	ACAAAAAC others(8): Show ACAAAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02145.hp1 HG02559.hp2 others(6): Show HG01081.hp2 HG02145.hp1 HG02559.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	9	416	0.0216	15	c.-27 others(26): Show c.-2762_-2761insGTTTGTTTGTTTTTG	HOXA13	ENSG00000106031.9	transcript	ENST00000649031.1	protein_coding		2748		chr7	TogoVar
HOXB13_chr17_48719763_48733750	48728875	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02572.hp2 HG01167.hp1 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0011 a0001c0003t0001g0006 a0001c0002t0001g0011 a0001c0003t0001g0006	2	426	0.0047	15	c.-28 others(24): Show c.-283_-282insGAGAGAGAGAGAGAG	HOXB13	ENSG00000159184.8	transcript	ENST00000290295.8	protein_coding		126		chr17	TogoVar
HOXB13_chr17_48719763_48733750	48731314	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01070.hp2 HG01167.hp1 others(2): Show HG00099.hp1 HG01070.hp2 HG01167.hp1 HG02738.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0011 a0001c0001t0002 a0001c0002t0001 a0001c0002t0011	a0001c0001t0002g0002 a0001c0002t0001g0011 a0001c0002t0011g0022 a0001c0001t0002g0002 a0001c0002t0001g0011 a0001c0002t0011g0022	5	426	0.0117	15	c.-27 others(26): Show c.-2722_-2721insTTTTTTTTTTTTTTT	HOXB13	ENSG00000159184.8	transcript	ENST00000290295.8	protein_coding		2565		chr17	TogoVar
HOXB1_chr17_48523526_48536011	48528163	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	15	c.13 others(26): Show c.1383_*1384insTTTTTTTTTTTTTTT	HOXB1	ENSG00000120094.9	transcript	ENST00000239174.7	protein_coding		362		chr17	TogoVar
HOXB2_chr17_48537655_48550109	48538808	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 NA19007.hp1 HG03130.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0002 a0001c0001t0002g0006	2	426	0.0047	15	c.42 others(26): Show c.4259_*4260insTTTTTTTTTTTTTTT	HOXB2	ENSG00000173917.11	transcript	ENST00000330070.6	protein_coding		3846		chr17	TogoVar
HOXB3_chr17_48543870_48595241	48561183	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	374	0.0027	15	c.-24 others(34): Show c.-246-5566_-246-5565insGTGTGTGTGTGTGTG	HOXB3	ENSG00000120093.12	transcript	ENST00000498678.6	protein_coding	2/4			chr17	TogoVar
HOXB6_chr17_48590751_48609986	48608503	C C	CAATGGGC others(8): Show CAATGGGCGATGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	394	0.0025	15	c.-38 others(26): Show c.-3871_-3857dupTGCCCATCGCCCATT	HOXB6	ENSG00000108511.10	transcript	ENST00000225648.4	protein_coding		3518		chr17	TogoVar
HOXC13_chr12_53933831_53951544	53942154	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	402	0.0025	15	c.736 others(32): Show c.736+2535_736+2549dupTTTTTTTTTTTTTTT	HOXC13	ENSG00000123364.5	transcript	ENST00000243056.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
HOXC4_chr12_54048835_54061030	54058950	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	400	0.0025	15	c.37 others(26): Show c.3745_*3746insTGTGTGTGTGTGTGT	HOXC4	ENSG00000198353.8	transcript	ENST00000430889.3	protein_coding		2921		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54004103	T T	TGAATGTT others(8): Show TGAATGTTTGTCTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	306	0.0033	15	c.-51 others(26): Show c.-5182_-5181insGAATGTTTGTCTGGG	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		4881		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54013944	T T	TTTCTCTT others(8): Show TTTCTCTTCTCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG01099.hp1 others(3): Show HG00639.hp1 HG01081.hp2 HG01099.hp1 NA18952.hp1 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0005g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0005g0001	6	306	0.0196	15	c.25 others(26): Show c.2563_*2564insTTCTCTTCTCTTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1176		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(8): Show TTCTCTTCTTTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02451.hp1 NA18954.hp2 HG01496.hp1 HG02451.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0050 a0001c0001t0002 a0001c0001t0004 a0001c0001t0050	a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0050g0001 a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0050g0001	3	306	0.0098	15	c.26 others(26): Show c.2619_*2620insTCTCTTCTTTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014033	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	306	0.0033	15	c.26 others(26): Show c.2652_*2653insCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1265		chr12	TogoVar
HOXD10_chr2_176111778_176124937	176111826	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02897.hp1 NA18985.hp2 others(1): Show HG02647.hp2 HG02897.hp1 NA18985.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 others(1): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021	a0001c0001t0010g0002 a0001c0001t0013g0002 a0001c0001t0016g0002 others(1): Show a0001c0001t0010g0002 a0001c0001t0013g0002 a0001c0001t0016g0002 a0001c0001t0021g0002	4	428	0.0094	15	c.-50 others(26): Show c.-5008_-5007insAAAAAAAAAAAAAAA	HOXD10	ENSG00000128710.6	transcript	ENST00000249501.5	protein_coding		4951		chr2	TogoVar
HOXD10_chr2_176111778_176124937	176119465	A A	ATATATAT others(8): Show ATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0001 a0001c0001t0051g0001	1	428	0.0023	15	c.23 others(24): Show c.234_*235insTATATATATATATAT	HOXD10	ENSG00000128710.6	transcript	ENST00000249501.5	protein_coding	2/2	235		chr2	TogoVar
HOXD11_chr2_176102280_176114754	176103747	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	430	0.0023	15	c.-36 others(26): Show c.-3609_-3608insAAAAAAAAAAAAAAA	HOXD11	ENSG00000128713.14	transcript	ENST00000249504.7	protein_coding		3532		chr2	TogoVar
HOXD11_chr2_176102280_176114754	176111826	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02897.hp1 NA18985.hp1 others(1): Show HG02647.hp1 HG02897.hp1 NA18985.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0002g0009 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0002g0009 a0001c0001t0002g0034	4	430	0.0093	15	c.26 others(26): Show c.2684_*2685insAAAAAAAAAAAAAAA	HOXD11	ENSG00000128713.14	transcript	ENST00000249504.7	protein_coding		2073		chr2	TogoVar
HOXD12_chr2_176094795_176107489	176103747	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	404	0.0025	15	c.29 others(26): Show c.2987_*2988insAAAAAAAAAAAAAAA	HOXD12	ENSG00000170178.7	transcript	ENST00000406506.4	protein_coding		1259		chr2	TogoVar
HOXD3_chr2_176152307_176178098	176168566	T T	TAAAACAA others(8): Show TAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02615.hp2 others(10): Show HG02109.hp1 HG02559.hp1 HG02615.hp2 HG02647.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03486.hp1 HG03579.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0004t0001 a0001c0004t0006 a0001c0003t0003 a0001c0004t0001 a0001c0004t0006	a0001c0003t0003g0082 a0001c0003t0003g0115 a0001c0004t0001g0015 others(3): Show a0001c0003t0003g0082 a0001c0003t0003g0115 a0001c0004t0001g0015 a0001c0004t0001g0047 a0001c0004t0001g0048 a0001c0004t0006g0011	13	332	0.0392	15	c.-84 others(30): Show c.-84-458_-84-444dupAAACAAAACAAAACA	HOXD3	ENSG00000128652.12	transcript	ENST00000683222.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
HOXD8_chr2_176124705_176137695	176127763	A A	ACACACAC others(8): Show ACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	15	c.-26 others(26): Show c.-2604_-2603insCACACACACACACAC	HOXD8	ENSG00000175879.9	transcript	ENST00000313173.6	protein_coding		1941		chr2	TogoVar
HOXD9_chr2_176117719_176129937	176119465	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18978.hp2 NA18969.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0001 a0002c0002t0003g0001 a0002c0002t0001g0001 a0002c0002t0003g0001	2	404	0.0050	15	c.-33 others(26): Show c.-3304_-3303insTATATATATATATAT	HOXD9	ENSG00000128709.13	transcript	ENST00000249499.8	protein_coding		3253		chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10334695	C C	CTTTTTCT others(8): Show CTTTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp2 HG02717.hp1 others(2): Show HG01109.hp2 HG02647.hp2 HG02717.hp1 HG03453.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0001 a0001c0001t0002 a0001c0001t0019	a0001c0001t0001g0231 a0001c0001t0002g0027 a0001c0001t0002g0232 others(2): Show a0001c0001t0001g0231 a0001c0001t0002g0027 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0019g0234	5	314	0.0159	15	c.-11 others(36): Show c.-111+31523_-111+31524insCTTTTTTTTTTTTTT	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10334695	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02257.hp1 HG02738.hp2 others(4): Show HG01169.hp1 HG02257.hp1 HG02738.hp2 HG03098.hp2 HG06807.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0205 others(4): Show a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0205 a0001c0001t0001g0235 a0001c0001t0001g0266 a0001c0001t0002g0282 a0001c0001t0005g0283	7	314	0.0223	15	c.-11 others(36): Show c.-111+31526_-111+31527insTTTTTTTTTTTTTTT	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10392665	T T	TGCGGGAG others(8): Show TGCGGGAGTGGAAGCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(68): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp2 HG01070.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01978.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18944.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18982.hp1 NA18982.hp2 NA18993.hp2 NA18999.hp1 NA19010.hp2 NA19077.hp2 NA19081.hp1 NA19085.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0004t0004	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0033 others(68): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0266 a0001c0001t0001g0281 a0001c0001t0001g0297 a0001c0001t0001g0311 a0001c0001t0002g0040 a0001c0001t0002g0203 a0001c0001t0002g0277 a0001c0001t0002g0289 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0113 a0001c0001t0003g0121 a0001c0001t0003g0241 a0001c0001t0003g0286 a0001c0001t0003g0294 a0001c0001t0003g0301 a0001c0001t0004g0264 a0001c0001t0005g0008 a0001c0001t0005g0120 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0283 a0001c0001t0005g0295 a0001c0001t0006g0251 a0001c0001t0008g0022 a0001c0001t0011g0148 a0001c0001t0011g0149 a0001c0001t0014g0145 a0001c0001t0018g0291 a0001c0001t0021g0147 a0001c0004t0004g0152	71	314	0.2261	15	c.-11 others(34): Show c.-110-4168_-110-4154dupCGGGAGTGGAAGCAG	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399227	C C	CACCGCCG others(8): Show CACCGCCGCTGCCGCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp2 HG02109.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0205 a0001c0001t0006g0251 a0001c0001t0001g0205 a0001c0001t0006g0251	2	314	0.0064	15	c.-25 others(32): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399271	C C	CCACCACC others(8): Show CCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02080.hp1 NA18955.hp2 others(2): Show HG01081.hp2 HG02080.hp1 NA18955.hp2 NA19000.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0107 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0107 a0001c0001t0003g0067 a0001c0001t0003g0134	5	314	0.0159	15	c.-25 others(32): Show c.-25+2359_-25+2360insCCACCATCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399373	C C	CCACCACC others(8): Show CCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01891.hp2 others(7): Show HG01257.hp2 HG01258.hp2 HG01891.hp2 HG01993.hp1 HG02145.hp2 HG02451.hp2 HG02559.hp1 HG03017.hp1 HG03225.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022	a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0260 others(7): Show a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0260 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0299 a0001c0001t0003g0172 a0001c0001t0003g0179 a0001c0001t0022g0024	10	314	0.0319	15	c.-25 others(32): Show c.-25+2467_-25+2468insTCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399432	A A	ACCACCAC others(8): Show ACCACCACCATCACCG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	314	0.0032	15	c.-25 others(32): Show c.-25+2526_-25+2527insGCCACCACCATCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPD_chr12_121834527_121863859	121834987	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	15	c.47 others(26): Show c.4740_*4741insGAAAGAAAGAAAGAA	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding		4539		chr12	TogoVar
HPD_chr12_121834527_121863859	121835028	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 NA20129.hp1 HG02486.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0188 a0003c0003t0001g0144 a0001c0001t0001g0188 a0003c0003t0001g0144	2	406	0.0049	15	c.46 others(26): Show c.4699_*4700insGAAAGAAAGAAAGAA	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding		4498		chr12	TogoVar
HPGDS_chr4_94293535_94347836	94340311	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	312	0.0032	15	c.-10 others(32): Show c.-10+2469_-10+2483dupAAAAAAAAAAAAAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340312	T T	TCTTTCTT others(8): Show TCTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG00741.hp2 others(2): Show HG00323.hp1 HG00673.hp2 HG00741.hp2 HG02559.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0064 a0001c0001t0001g0130 a0001c0001t0002g0086 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0130 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0006g0270	5	312	0.0160	15	c.-10 others(32): Show c.-10+2482_-10+2483insGAAAAAGAAAGAAAG	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar

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