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
HK1_chr10_69273496_69406882	69275522	A A	AGGGGGGG others(33): Show AGGGGGGGGGGGGGGGGGAGGGGGGAGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	278	0.0036	40	c.-34 others(51): Show c.-3459_-3458insGGGGGGGGGGGGGGGGGAGGGGGGAGGGGGGGGG GGGGGG	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2973		chr10	TogoVar
HK1_chr10_69273496_69406882	69332357	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02083.hp1 HG02698.hp1 others(9): Show HG02080.hp1 HG02083.hp1 HG02698.hp1 HG04204.hp1 NA18956.hp1 NA18966.hp2 NA18975.hp2 NA18986.hp1 NA18986.hp2 NA19003.hp2 NA19010.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0002t0017 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0017 a0001c0004t0001 a0001c0009t0007 a0001c0021t0002	a0001c0001t0001g0043 a0001c0001t0002g0088 a0001c0001t0002g0092 others(9): Show a0001c0001t0001g0043 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0117 a0001c0001t0002g0131 a0001c0001t0002g0162 a0001c0002t0017g0095 a0001c0004t0001g0265 a0001c0009t0007g0192 a0001c0021t0002g0163	12	219	0.0548	40	c.76- others(57): Show c.76-11443_76-11442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	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(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02083.hp1 HG04204.hp1 others(8): Show HG02080.hp2 HG02083.hp1 HG04204.hp1 NA18956.hp1 NA18966.hp2 NA18986.hp1 NA18986.hp2 NA19003.hp2 NA19010.hp2 NA19067.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0022	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0010t0001 a0001c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0110 a0001c0001t0001g0129 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0110 a0001c0001t0001g0129 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0002t0001g0264 a0001c0002t0001g0282 a0001c0004t0001g0271 a0001c0010t0001g0206 a0001c0022t0001g0261	11	234	0.0470	40	c.64- others(57): Show c.64-11443_64-11442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	HK1	ENSG00000156515.25	transcript	ENST00000359426.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
HK2_chr2_74829127_74898359	74882605	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01261.hp1 others(9): Show HG00140.hp2 HG00408.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp1 HG02148.hp2 HG02896.hp2 HG02897.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18955.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0012 a0002c0004 others(1): Show a0001c0001 a0001c0012 a0002c0004 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0012t0021 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0012t0021 a0002c0004t0009 a0002c0004t0010 a0003c0003t0003	a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0093 others(8): Show a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0093 a0001c0001t0002g0208 a0001c0001t0005g0141 a0001c0001t0005g0220 a0001c0012t0021g0356 a0002c0004t0009g0326 a0002c0004t0010g0004 a0003c0003t0003g0117 a0003c0003t0003g0166	12	139	0.0863	40	c.183 others(57): Show c.1839+382_1839+383insTATATATATATATATATATATATATATA TATATATATATA	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(33): Show CATGCATGTATGTATGTATGTATGTATGTATGTATGTATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0005 a0009c0009t0005	a0009c0009t0005g0005 a0009c0009t0005g0005	1	205	0.0049	40	c.41 others(51): Show c.4147_*4148insATGCATGTATGTATGTATGTATGTATGTATGTAT GTATGT	HLA-A	ENSG00000206503.14	transcript	ENST00000376809.10	protein_coding		3733		chr6	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03710.hp2 HG04228.hp2 HG02080.hp1 HG03710.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0001t0008 a0001c0014t0056 a0001c0001t0002 a0001c0001t0008 a0001c0014t0056	a0001c0001t0002g0228 a0001c0001t0008g0229 a0001c0014t0056g0233 a0001c0001t0002g0228 a0001c0001t0008g0229 a0001c0014t0056g0233	3	171	0.0175	40	c.189 others(61): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GGAAGGAA others(33): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp1 HG02886.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0017 a0001c0001t0010g0217 a0001c0001t0010g0017 a0001c0001t0010g0217	2	170	0.0118	40	c.189 others(61): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCCTTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HMBOX1_chr8_28885395_29058262	29003555	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	31	0.0323	40	c.587 others(57): Show c.587-5495_587-5494insATATATATATATATATATATATATATAT ATATATATATAT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMCN1_chr1_185729391_186195949	185919074	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0085 a0007c0009t0002g0085	1	69	0.0145	40	c.901 others(57): Show c.901-3288_901-3287insTATATATATATATATATATATATATATA TATATATATATA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	6/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCCCTCT others(33): Show GTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0218 a0001c0218	a0001c0218t0001 a0001c0218t0001	a0001c0218t0001g0046 a0001c0218t0001g0046	1	119	0.0084	40	c.235 others(59): Show c.2350+2450_2350+2451insTCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCTCTCT others(33): Show GTCTCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02451.hp1 HG02698.hp2 HG01346.hp1 HG02451.hp1 HG02698.hp2	a0001 a0004 a0059 a0001 a0004 a0059	a0001c0083 a0004c0190 a0059c0189 a0001c0083 a0004c0190 a0059c0189	a0001c0083t0002 a0004c0190t0002 a0059c0189t0002 a0001c0083t0002 a0004c0190t0002 a0059c0189t0002	a0001c0083t0002g0129 a0004c0190t0002g0254 a0059c0189t0002g0164 a0001c0083t0002g0129 a0004c0190t0002g0254 a0059c0189t0002g0164	3	121	0.0248	40	c.235 others(59): Show c.2350+2446_2350+2447insTCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp1 HG02922.hp1 HG02145.hp2 HG02630.hp1 HG02922.hp1	a0001 a0015 a0001 a0015	a0001c0037 a0001c0221 a0015c0068 a0001c0037 a0001c0221 a0015c0068	a0001c0037t0001 a0001c0221t0001 a0015c0068t0001 a0001c0037t0001 a0001c0221t0001 a0015c0068t0001	a0001c0037t0001g0036 a0001c0221t0001g0257 a0015c0068t0001g0148 a0001c0037t0001g0036 a0001c0221t0001g0257 a0015c0068t0001g0148	3	119	0.0252	40	c.235 others(59): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0044 a0044	a0044c0168 a0044c0168	a0044c0168t0002 a0044c0168t0002	a0044c0168t0002g0222 a0044c0168t0002g0222	1	117	0.0085	40	c.235 others(59): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02922.hp2 HG02970.hp2 others(4): Show HG02004.hp1 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03471.hp2 HG04228.hp1 NA18954.hp2	a0001 a0002 a0017 others(2): Show a0001 a0002 a0017 a0050 a0074	a0001c0050 a0001c0080 a0001c0216 others(4): Show a0001c0050 a0001c0080 a0001c0216 a0002c0112 a0017c0135 a0050c0186 a0074c0106	a0001c0050t0001 a0001c0080t0001 a0001c0216t0001 others(4): Show a0001c0050t0001 a0001c0080t0001 a0001c0216t0001 a0002c0112t0001 a0017c0135t0002 a0050c0186t0005 a0074c0106t0001	a0001c0050t0001g0033 a0001c0080t0001g0101 a0001c0216t0001g0045 others(4): Show a0001c0050t0001g0033 a0001c0080t0001g0101 a0001c0216t0001g0045 a0002c0112t0001g0140 a0017c0135t0002g0223 a0050c0186t0005g0179 a0074c0106t0001g0139	7	123	0.0569	40	c.235 others(59): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG02080.hp1 others(2): Show HG01496.hp2 HG02055.hp1 HG02080.hp1 HG03492.hp2 NA18971.hp1	a0001 a0003 a0020 others(1): Show a0001 a0003 a0020 a0041	a0001c0003 a0001c0033 a0003c0121 others(2): Show a0001c0003 a0001c0033 a0003c0121 a0020c0183 a0041c0156	a0001c0003t0001 a0001c0033t0001 a0003c0121t0001 others(2): Show a0001c0003t0001 a0001c0033t0001 a0003c0121t0001 a0020c0183t0002 a0041c0156t0002	a0001c0003t0001g0151 a0001c0033t0001g0014 a0003c0121t0001g0144 others(2): Show a0001c0003t0001g0151 a0001c0033t0001g0014 a0003c0121t0001g0144 a0020c0183t0002g0238 a0041c0156t0002g0243	5	121	0.0413	40	c.235 others(59): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCTTTCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0076 a0001c0031t0001g0076	1	117	0.0085	40	c.235 others(59): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCTT TCTTTCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMG20A_chr15_77415888_77490603	77434323	T T	GTTATGAA others(33): Show GTTATGAAATTAAAAACTTCATAAACTCATGAAATTGGAGT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	364	0.0027	40	c.-5+ others(57): Show c.-5+13318_-5+13319insGTTATGAAATTAAAAACTTCATAAACTC ATGAAATTGGAG	HMG20A	ENSG00000140382.15	transcript	ENST00000336216.9	protein_coding	1/9			chr15	TogoVar
HMGB2_chr4_173326376_173339358	173331364	G G	GTGTATAT others(33): Show GTGTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	339	0.0029	40	c.71 others(49): Show c.715_*716insTATATATATATATATATATATATATATATATATATA TACA	HMGB2	ENSG00000164104.12	transcript	ENST00000296503.10	protein_coding		11		chr4	TogoVar
HMGCLL1_chr6_55429373_55584192	55477309	T T	TTTATATA others(33): Show TTTATATAATATATAATATATATTATATATTATATAATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02129.hp1 NA18941.hp2 others(12): Show HG00673.hp1 HG02129.hp1 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18956.hp2 NA18963.hp1 NA18970.hp2 NA18986.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp2 NA19064.hp1 NA19077.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0197 a0001c0001t0001g0198 others(12): Show a0001c0001t0001g0021 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0250 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323	15	308	0.0487	40	c.795 others(59): Show c.795+18109_795+18110insTATATTATATAATATATAATATATAT TATATATTATATAA	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55477440	A A	ATATAATA others(33): Show ATATAATATATATTATATTATATATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18522.hp1 HG02647.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0221 a0001c0001t0001g0200 a0001c0001t0001g0221	2	332	0.0060	40	c.795 others(59): Show c.795+17978_795+17979insATATATAATATATATTATATATAATA TAATATATATTATA	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01261.hp1 others(8): Show HG00140.hp1 HG00639.hp1 HG01261.hp1 HG01346.hp2 HG02293.hp2 HG03017.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG04228.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0005g0088 a0001c0001t0007g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0005g0088 a0001c0001t0007g0003 a0001c0001t0008g0019 a0003c0003t0001g0067	11	120	0.0917	40	c.57 others(51): Show c.5742_*5743insATATATATATATATATATATATATATATATATAT ATATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMOX1_chr22_35376096_35399207	35389395	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	276	0.0036	40	c.637 others(55): Show c.637-466_637-465insCCTTCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HMOX1_chr22_35376096_35399207	35389395	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	276	0.0036	40	c.637 others(55): Show c.637-466_637-465insCCTTCCTTCCTTCCTTCCTTTCTTTCTTTC TTTCTTTCTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG06807.hp2 NA18986.hp2 HG00558.hp1 HG06807.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0114 a0001c0001t0002g0148 a0001c0001t0002g0003 a0001c0001t0002g0114 a0001c0001t0002g0148	3	25	0.1200	40	c.62 others(51): Show c.6213_*6214insTATATATATATATATATATATATATATATATATA TATATA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4526		chr4	TogoVar
HOMER2_chr15_82843983_82957720	82860978	A A	AGAGAGAG others(33): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp2 HG01109.hp1 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0340 a0002c0002t0001g0347 a0002c0002t0001g0340 a0002c0002t0001g0347	2	341	0.0059	40	c.388 others(57): Show c.388-1844_388-1843insCCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	281	0.0036	40	c.295 others(57): Show c.295-4283_295-4282insAATATATATATATATATATATATATATA TATATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(33): Show ATTTTATTTTATTTTATTTTATTTTATTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0002	1	119	0.0084	40	c.41- others(55): Show c.41-3554_41-3553insAATAAAATAAAATAATAAAATAAAATAAAA TAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(33): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTATTTTATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0002	1	119	0.0084	40	c.41- others(55): Show c.41-3554_41-3553insAATAAAATAATAAAATAAAATAAAATAAAA TAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(33): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19067.hp1 NA18971.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0240 a0001c0001t0002g0241	2	15	0.1333	40	c.-39 others(55): Show c.-390+81_-390+82insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5			chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(33): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA19067.hp1 NA18971.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	16	0.1250	40	c.18 others(51): Show c.1833_*1834insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1050		chr7	TogoVar
HOXC8_chr12_54003985_54017769	54013944	T T	TTTCTCTT others(33): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	1	255	0.0039	40	c.25 others(51): Show c.2563_*2564insTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1176		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(33): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	146	0.0068	40	c.26 others(51): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HPSE2_chr10_98452077_99240852	99132241	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0134 a0002c0002t0002g0134	1	22	0.0455	40	c.610 others(59): Show c.610+11996_610+11997insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HP_chr16_72049505_72066055	72052655	A A	ATTTGACA others(33): Show ATTTGACATTTTCCAATGGTGTTGAGTGACTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	424	0.0024	40	c.-19 others(51): Show c.-1998_-1997insTTTGACATTTTCCAATGGTGTTGAGTGACTTTTT TTTTTT	HP	ENSG00000257017.10	transcript	ENST00000355906.10	protein_coding		1849		chr16	TogoVar
HRH3_chr20_62209960_62225278	62212941	G G	GGGAGGAG others(33): Show GGGAGGAGAGTGGGATGGGGGGTAAGGAGAGCGGGATGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0027	40	c.30 others(51): Show c.3064_*3065insACCCATCCCGCTCTCCTTACCCCCCATCCCACTC TCCTCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		2018		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213122	G G	GGGGGAGG others(33): Show GGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02451.hp1 HG03209.hp2 others(1): Show HG02004.hp1 HG02451.hp1 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0003t0001g0010 a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0003t0001g0010	4	350	0.0114	40	c.28 others(51): Show c.2883_*2884insATCCCTGCTCTCCCTTCCCCCATCCCCGCTCTCC CTCCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1837		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213145	G G	GGGGAGGG others(33): Show GGGGAGGGAGAGCAGGGATGGGGGGAAGGGAGAGCAGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03834.hp1 HG04204.hp1 HG03492.hp2 HG03834.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0003t0001g0003 a0001c0001t0001g0001 a0001c0003t0001g0003	3	247	0.0121	40	c.28 others(51): Show c.2860_*2861insATCCCTGCTCTCCCTTCCCCCCATCCCTGCTCTC CCTCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1814		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213169	G G	GGGGGTAA others(33): Show GGGGGTAAGGAGAGCGGGGATGGGGGAGGGAGAGTGGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA19070.hp1 NA18969.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	306	0.0065	40	c.28 others(51): Show c.2836_*2837insATCCCCACTCTCCCTCCCCCATCCCCGCTCTCCT TACCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1790		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213170	G G	GGGAGGGA others(33): Show GGGAGGGAGAGCAGGGATGGGGGGAAGGGAGAGCAGGGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01516.hp1 NA19012.hp1 HG00738.hp1 HG01516.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0002t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0002t0001g0002	3	306	0.0098	40	c.28 others(51): Show c.2835_*2836insGATCCCTGCTCTCCCTTCCCCCCATCCCTGCTCT CCCTCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1789		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213171	G G	GGAGGGAG others(33): Show GGAGGGAGAGCAGGGATGGGGGGGAAGGGAGAGCAGGGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0030	1	359	0.0028	40	c.28 others(51): Show c.2834_*2835insGATCCCTGCTCTCCCTTCCCCCCCATCCCTGCTC TCCCTC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1788		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213279	G G	GGGGGAGG others(33): Show GGGGGAGGGAGAGTGGGGATGGGGGAAGGGAGAGCAGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	366	0.0027	40	c.27 others(51): Show c.2726_*2727insATCCCTGCTCTCCCTTCCCCCATCCCCACTCTCC CTCCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1680		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213390	G G	GGGAGGGA others(33): Show GGGAGGGAGAGCAGGGATGGGGGGAAGGGAGAGCAGGGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	324	0.0031	40	c.26 others(51): Show c.2615_*2616insGATCCCTGCTCTCCCTTCCCCCCATCCCTGCTCT CCCTCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1569		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86976704	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	61	0.0164	40	c.124 others(59): Show c.124+61561_124+61562insATATATATATATATATATATATATAT ATATATATATATAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST2_chr16_22809162_22921338	22818819	T T	TTCCTTCC others(33): Show TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCATTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02145.hp2 others(1): Show HG01243.hp2 HG01891.hp2 HG02145.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0297 others(1): Show a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0002t0001g0007	4	215	0.0186	40	c.485 others(57): Show c.485+3738_485+3739insATTCCTTCCTTCCTTCATTCCTTCCCTC CTTCCTTCCTTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329367	A A	AAGAAAAG others(33): Show AAGAAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0087 a0001c0002t0087	a0001c0002t0087g0279 a0001c0002t0087g0279	1	281	0.0036	40	c.555 others(59): Show c.555-15660_555-15659insGAAAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGA	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(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCCCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	134	0.0075	40	c.734 others(61): Show c.734+135149_734+135150insTTTCTTTCTTTCTTTCTTTCTTTC CCTCTCTCTCTCTCTC	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25904163	A A	AATGGATG others(33): Show AATGGATGGATGGATGGATGGATGGATGAATGGATGAATGG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	109	0.0092	40	c.734 others(61): Show c.734+211033_734+211034insTGGATGAATGGATGAATGGATGGA TGGATGGATGGATGGA	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	26115251	A A	ATATATAT others(33): Show ATATATATATATACATATACATATATATGTATATGTATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp1 HG02056.hp2 others(5): Show HG00140.hp1 HG01109.hp1 HG02056.hp2 HG03239.hp2 NA18993.hp2 NA19005.hp2 NA19009.hp2 NA19012.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0004c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0115 a0001c0001t0002g0054 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0115 a0001c0001t0002g0054 a0001c0001t0004g0089 a0001c0001t0011g0145 a0001c0001t0012g0044 a0001c0001t0022g0143 a0004c0008t0001g0074	8	164	0.0488	40	c.735 others(59): Show c.735-20355_735-20354insTATATACATATACATATATATGTATA TGTATATGTATATA	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS6ST3_chr13_96085107_96844562	96304679	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0081 a0001c0001t0026g0081	1	88	0.0114	40	c.707 others(61): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96381410	G G	GTATCTAT others(33): Show GTATCTATGTATCTATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	24	0.0417	40	c.707 others(61): Show c.707+289848_707+289849insGTATCTATCTATCTATCTATCTAT CTATCTATCTATCTAT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar

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