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
HELZ_chr17_67065444_67250196	67086629	T T	TATATATA others(45): Show TATATATATATAAAAATAAATATAAATATATATATATATAAAAATAAATA TAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0028 a0005c0007t0028	a0005c0007t0028g0089 a0005c0007t0028g0089	1	274	0.0037	52	c.549 others(69): Show c.5494+199_5494+200insTTATATTTATTTTTATATATATATATAT TTATATTTATTTTTATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	32/32			chr17	TogoVar
HERC4_chr10_67916905_68080283	68059668	T T	TTATATTA others(45): Show TTATATTATATATCATAATATTATATATTATAATATTATATATCATAATA TTA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01255.hp1 NA18612.hp1 HG01169.hp2 HG01255.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206	3	360	0.0083	52	c.226 others(71): Show c.226+13163_226+13214dupTAATATTATGATATATAATATTATAA TATATAATATTATGATATATAATATA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059778	T T	TATATATC others(45): Show TATATATCATAATATTATATATTATAATATTATATATCATAATATTATAT ATC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0201 a0001c0002t0001g0202	2	360	0.0056	52	c.226 others(71): Show c.226+13104_226+13105insGATATATAATATTATGATATATAATA TTATAATATATAATATTATGATATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059843	T T	TATTATAT others(45): Show TATTATATATCATATTATATATTATAATATTATATATCATATTATATATT ATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03579.hp1 HG01884.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0199 a0001c0001t0001g0200	2	360	0.0056	52	c.226 others(71): Show c.226+13039_226+13040insTATAATATATAATATGATATATAATA TTATAATATATAATATGATATATAAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HGSNAT_chr8_43135464_43207855	43181081	T T	TGGAGGGA others(45): Show TGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	234	0.0043	52	c.101 others(71): Show c.1013-1059_1013-1008dupGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGS_chr17_81679011_81707121	81686754	G G	GCTGCTGT others(45): Show GCTGCTGTCCCACCGGGTTCCCCACCGGCCACTGACGGGCCTGTCGAAGG GCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00544.hp1 others(59): Show HG00099.hp2 HG00408.hp2 HG00544.hp1 HG00738.hp1 HG01123.hp1 HG01358.hp2 HG01515.hp1 HG02027.hp2 HG02056.hp2 HG02083.hp2 HG02273.hp1 HG02683.hp2 HG02738.hp1 HG03669.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19055.hp2 NA19056.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0012 a0013 a0016	a0001c0001 a0001c0025 a0002c0002 others(5): Show a0001c0001 a0001c0025 a0002c0002 a0002c0027 a0005c0029 a0012c0028 a0013c0030 a0016c0024	a0001c0001t0001 a0001c0025t0001 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0025t0001 a0002c0002t0002 a0002c0027t0002 a0005c0029t0002 a0012c0028t0002 a0013c0030t0002 a0016c0024t0002	a0001c0001t0001g0081 a0001c0025t0001g0078 a0002c0002t0002g0001 others(25): Show a0001c0001t0001g0081 a0001c0025t0001g0078 a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0094 a0002c0027t0002g0035 a0005c0029t0002g0001 a0012c0028t0002g0070 a0013c0030t0002g0077 a0016c0024t0002g0079	62	414	0.1498	52	c.199 others(67): Show c.199-226_199-175dupACCGGCCACTGACGGGCCTGTCGAAGGGCT CTGCTGTCCCACCGGGTTCCCC	HGS	ENSG00000185359.14	transcript	ENST00000329138.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(45): Show TATATATATATACATATATATATATATATATATATATATATATATATATA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0197 a0001c0001t0006g0197	1	268	0.0037	52	c.-21 others(63): Show c.-2190_-2189insATATATATATACATATATATATATATATATATAT ATATATATATATATATAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HIKESHI_chr11_86297240_86350943	86307957	A A	AAAATATA others(45): Show AAAATATATATTATGTGTAATATATAAAATATATATTATGTGTAATATAT ATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	398	0.0025	52	c.268 others(69): Show c.268+1475_268+1476insAAATATATATTATGTGTAATATATAAAA TATATATTATGTGTAATATATATT	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4			chr11	TogoVar
HK1_chr10_69273496_69406882	69332357	T T	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02976.hp1 HG03017.hp1 others(3): Show HG01433.hp1 HG02976.hp1 HG03017.hp1 HG04199.hp2 NA19002.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0006t0006 a0001c0008t0002	a0001c0001t0001g0174 a0001c0001t0002g0087 a0001c0003t0002g0089 others(3): Show a0001c0001t0001g0174 a0001c0001t0002g0087 a0001c0003t0002g0089 a0001c0003t0002g0090 a0001c0006t0006g0034 a0001c0008t0002g0072	6	280	0.0214	52	c.76- others(69): Show c.76-11443_76-11442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	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(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02976.hp2 HG03017.hp2 others(4): Show HG01433.hp1 HG02976.hp2 HG03017.hp2 HG03834.hp2 HG04199.hp2 NA19002.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0019	a0001c0001t0001 a0001c0003t0001 a0001c0006t0005 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0005 a0001c0007t0001 a0001c0019t0001	a0001c0001t0001g0214 a0001c0001t0001g0251 a0001c0003t0001g0021 others(4): Show a0001c0001t0001g0214 a0001c0001t0001g0251 a0001c0003t0001g0021 a0001c0003t0001g0023 a0001c0006t0005g0057 a0001c0007t0001g0042 a0001c0019t0001g0126	7	296	0.0237	52	c.64- others(69): Show c.64-11443_64-11442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	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(45): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01496.hp2 others(4): Show HG00099.hp2 HG00738.hp1 HG01496.hp2 HG02129.hp1 HG03139.hp2 NA19001.hp2 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0002c0004t0006 a0002c0004t0013	a0001c0001t0002g0126 a0001c0001t0002g0155 a0001c0001t0002g0341 others(4): Show a0001c0001t0002g0126 a0001c0001t0002g0155 a0001c0001t0002g0341 a0001c0001t0007g0241 a0001c0001t0014g0385 a0002c0004t0006g0358 a0002c0004t0013g0184	7	394	0.0178	52	c.183 others(69): Show c.1839+382_1839+383insTATATATATATATATATATATATATATA TATATATATATATATATATATATA	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HLA-DQB1_chr6_32654467_32671657	32663612	G G	GCCTACAG others(45): Show GCCTACAGTGACCATCTCCCCATCCATGACCAATAAAGTGTTTATCATGT ACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(17): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01106.hp2 HG01192.hp2 HG01257.hp2 HG02080.hp2 HG02109.hp2 HG02148.hp2 HG02572.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 NA20129.hp2	a0008 a0017 a0008 a0017	a0008c0008 a0017c0016 a0008c0008 a0017c0016	a0008c0008t0008 a0017c0016t0008 a0008c0008t0008 a0017c0016t0008	a0008c0008t0008g0008 a0008c0008t0008g0051 a0017c0016t0008g0052 a0008c0008t0008g0008 a0008c0008t0008g0051 a0017c0016t0008g0052	20	402	0.0498	52	c.379 others(69): Show c.379+1185_379+1186insGGTACATGATAAACACTTTATTGGTCAT GGATGGGGAGATGGTCACTGTAGG	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding	2/4			chr6	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GGAAGGAA others(45): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp1 HG02723.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0056 a0001c0001t0010 a0001c0001t0056	a0001c0001t0010g0213 a0001c0001t0056g0198 a0001c0001t0010g0213 a0001c0001t0056g0198	2	258	0.0078	52	c.189 others(73): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCTCTCT others(45): Show GTCTCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0073 a0073	a0073c0138 a0073c0138	a0073c0138t0002 a0073c0138t0002	a0073c0138t0002g0210 a0073c0138t0002g0210	1	258	0.0039	52	c.235 others(71): Show c.2350+2446_2350+2447insTCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTC	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(45): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTC TTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02071.hp1 HG01123.hp2 HG02071.hp1	a0001 a0001	a0001c0063 a0001c0223 a0001c0063 a0001c0223	a0001c0063t0001 a0001c0223t0001 a0001c0063t0001 a0001c0223t0001	a0001c0063t0001g0029 a0001c0223t0001g0017 a0001c0063t0001g0029 a0001c0223t0001g0017	2	258	0.0078	52	c.235 others(71): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCTTTCTTTCTTTCTTTC	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(45): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCTTTCTTTCTTTC TTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0024 a0024	a0024c0113 a0024c0113	a0024c0113t0001 a0024c0113t0001	a0024c0113t0001g0077 a0024c0113t0001g0077	1	258	0.0039	52	c.235 others(71): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCTTTCTTTCTTTCTTTC	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(45): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTC TTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	258	0.0039	52	c.235 others(71): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCTTTCTTTCTTTCTTTCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GAGATATA others(45): Show GAGATATATATATATATATATATATATATATATATATATATATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	414	0.0024	52	c.57 others(63): Show c.5742_*5743insATATATATATATATATATATATATATATATATAT ATATATATATATATATCT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(45): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0047 a0002c0002t0004g0047	1	414	0.0024	52	c.57 others(63): Show c.5742_*5743insATATATATATATATATATATATATATATATATAT ATATATATATATATATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMOX1_chr22_35376096_35399207	35389395	C C	CCTTCCTT others(45): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	384	0.0026	52	c.637 others(67): Show c.637-466_637-465insCCTTCCTTCCTTCCTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	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(45): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 NA20300.hp2 HG01106.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0169 a0001c0001t0003g0010 a0001c0001t0002g0169 a0001c0001t0003g0010	2	332	0.0060	52	c.62 others(63): Show c.6213_*6214insTATATATATATATATATATATATATATATATATA TATATATATATATATATA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4526		chr4	TogoVar
HOMER1_chr5_79367636_79519134	79500520	C C	CAGACGGC others(45): Show CAGACGGCAAAACCAATCCCTCCTCTTCCTCAGCCTACTCAGTGTGAAGA CAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	290	0.0035	52	c.5+1 others(67): Show c.5+12198_5+12249dupTTGTCTTCACACTGAGTAGGCTGAGGAAGA GGAGGGATTGGTTTTGCCGTCT	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	1/8			chr5	TogoVar
HOXA3_chr7_27102010_27157583	27114817	A A	ATATATAT others(45): Show ATATATATATAATATATATTATATATATTATATATATTATATATATTATA TAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp1 HG02818.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0238 a0001c0001t0005g0224 a0001c0001t0005g0238	2	326	0.0061	52	c.-12 others(71): Show c.-120-4058_-120-4057insATATATAATATATATAATATATATAA TATATATAATATATATTATATATATA	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(45): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0304 a0001c0001t0015g0304	1	326	0.0031	52	c.-39 others(67): Show c.-390+81_-390+82insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5			chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(45): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	398	0.0025	52	c.18 others(63): Show c.1833_*1834insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCT	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1050		chr7	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(45): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0001	1	306	0.0033	52	c.26 others(63): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(45): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCT CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	306	0.0033	52	c.26 others(63): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTTTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(45): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTCTCTCTCTCT CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	306	0.0033	52	c.26 others(63): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTT TCTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HPS4_chr22_26445882_26488783	26482901	A A	ATTGTTTC others(45): Show ATTGTTTCCTTTGCTTTTTTTTTTTTTTTCTTTTTATTTTTTTTTATTTA CTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0029 a0003c0003t0029	a0003c0003t0029g0059 a0003c0003t0029g0059	1	404	0.0025	52	c.-47 others(69): Show c.-478-662_-478-661insAAGTAAATAAAAAAAAATAAAAAGAAAA AAAAAAAAAAAGCAAAGGAAACAA	HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	1/13			chr22	TogoVar
HSD17B11_chr4_87331515_87396188	87378929	A A	AATATATA others(45): Show AATATATATATATAAATATATATATATAAATATATATATAAATATATATA AAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	390	0.0026	52	c.318 others(69): Show c.318+3325_318+3326insATTTATATATATTTATATATATATTTAT ATATATATATTTATATATATATAT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0330 a0002c0002t0001g0330	1	394	0.0025	52	c.369 others(69): Show c.369+5139_369+5140insATATATATATATATATATATATATATAT ATATATATATATATATATATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	374	0.0027	52	c.202 others(71): Show c.202-17463_202-17462insTATATATATATATATATATATAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0328 a0002c0002t0002g0328	1	374	0.0027	52	c.202 others(71): Show c.202-17463_202-17462insTATATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSF1_chr8_144286604_144319720	144313723	G G	GCGCCGCC others(45): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCG CCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0268 a0001c0001t0008g0268	1	330	0.0030	52	c.124 others(69): Show c.1248+108_1248+109insGCCGCCTCCCCGCGCCGCCTCCCCGCGC CGCCTCCCCGCGCCGCGCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPA12A_chr10_116666192_116747566	116732328	C C	CAAAGAAA others(45): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01515.hp1 HG01891.hp1 others(1): Show HG01361.hp2 HG01515.hp1 HG01891.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0015t0001	a0001c0001t0001g0241 a0001c0001t0002g0238 a0001c0003t0002g0237 others(1): Show a0001c0001t0001g0241 a0001c0001t0002g0238 a0001c0003t0002g0237 a0001c0015t0001g0252	4	320	0.0125	52	c.40+ others(69): Show c.40+10101_40+10102insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HSPA4_chr5_133047013_133111449	133109021	T T	TGGGGGGG others(45): Show TGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	364	0.0028	52	c.45 others(63): Show c.4585_*4586insGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGG	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding		2573		chr5	TogoVar
HSPA4_chr5_133047013_133111449	133109021	T T	TGGGGGGG others(45): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02572.hp2 HG04184.hp1 HG01433.hp2 HG02572.hp2 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0036 a0001c0002t0002g0063 a0001c0002t0011g0051 a0001c0002t0002g0036 a0001c0002t0002g0063 a0001c0002t0011g0051	3	364	0.0082	52	c.45 others(63): Show c.4585_*4586insGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGG	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding		2573		chr5	TogoVar
HTT_chr4_3069681_3248957	3169003	A A	ATTCTTTC others(45): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp2 HG02717.hp1 HG03471.hp2	a0010 a0025 a0010 a0025	a0010c0023 a0025c0026 a0010c0023 a0025c0026	a0010c0023t0003 a0025c0026t0003 a0010c0023t0003 a0025c0026t0003	a0010c0023t0003g0013 a0025c0026t0003g0022 a0010c0023t0003g0013 a0025c0026t0003g0022	2	294	0.0068	52	c.386 others(71): Show c.3865-3295_3865-3294insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	29/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATAAATA others(45): Show AATAAATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	296	0.0034	52	c.372 others(69): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATATATATATATATATTTAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
ICOSLG_chr21_44217991_44245943	44225597	T T	TACAGCAT others(45): Show TACAGCATGGGGAGGGGGACAGTGGGGAGGGGGGAGAGCGGGGTGAGCTG GGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0033 a0001c0002t0012g0033	1	41	0.0244	52	c.34 others(63): Show c.3436_*3437insCCCCAGCTCACCCCGCTCTCCCCCCTCCCCACTG TCCCCCTCCCCATGCTGT	ICOSLG	ENSG00000160223.18	transcript	ENST00000407780.8	protein_coding	7/7	3436		chr21	TogoVar
ICOSLG_chr21_44217991_44245943	44225639	G G	GTGAGCTG others(45): Show GTGAGCTGGGGACAGCATGGGGAGGGGGACAGTGGGGAGGGGGGAGAGCG GGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0007 a0001c0005t0006g0007	1	41	0.0244	52	c.33 others(63): Show c.3394_*3395insACCCGCTCTCCCCCCTCCCCACTGTCCCCCTCCC CATGCTGTCCCCAGCTCA	ICOSLG	ENSG00000160223.18	transcript	ENST00000407780.8	protein_coding	7/7	3394		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323136	T T	TATATATA others(45): Show TATATATATGGAATATGTATATATGGAATATATATATGGAATGTATATAT GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0084 a0001c0001t0039g0084	1	323	0.0031	52	c.-19 others(63): Show c.-1920_-1919insATATATATGGAATATGTATATATGGAATATATAT ATGGAATGTATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1833		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323207	T T	TATATATA others(45): Show TATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0086 a0001c0005t0013g0086	1	323	0.0031	52	c.-18 others(63): Show c.-1849_-1848insATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1762		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323389	T T	TATGGAAT others(45): Show TATGGAATATAGAGATGGAATATATATATGGAATATAGAGATGGAATATA GAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01261.hp1 HG00597.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0065 a0001c0001t0001g0002 a0001c0001t0001g0065	2	323	0.0062	52	c.-16 others(63): Show c.-1667_-1666insATGGAATATAGAGATGGAATATATATATGGAATA TAGAGATGGAATATAGAG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1580		chr21	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATACATA others(45): Show CATACATATATATATATATATATATATATATATATATATATATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 NA18979.hp1 HG03688.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0039 a0001c0001t0001g0042	2	358	0.0056	52	c.20 others(63): Show c.2073_*2074insATACATATATATATATATATATATATATATATAT ATATATATATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATATATA others(45): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02970.hp2 HG03453.hp1 others(1): Show HG00735.hp2 HG02970.hp2 HG03453.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0113 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0113 a0001c0001t0001g0161	4	358	0.0112	52	c.20 others(63): Show c.2073_*2074insATATATATATATATATATATATATATATATATAT ATATATATATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IGF1R_chr15_98643539_98969530	98968255	G G	GGGTGGAG others(45): Show GGGTGGAGGGGGGGTGGTTGGAGGTGTAGTGGGGGGTTGAGGGGGGTGGG GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	210	0.0048	52	c.10 others(65): Show c.10813_*10814insGGTGGAGGGGGGGTGGTTGGAGGTGTAGTGGG GGGTTGAGGGGGGTGGGGAA	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding		3726		chr15	TogoVar
IGF1_chr12_102390874_102485563	102415543	T T	TTTCCTTC others(45): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCGTCCTTCCTTCCTTCCT TCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA19066.hp1 NA19090.hp1 HG00733.hp1 NA19066.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0072 a0001c0001t0001 a0001c0001t0029 a0001c0001t0072	a0001c0001t0001g0356 a0001c0001t0029g0112 a0001c0001t0072g0237 a0001c0001t0001g0356 a0001c0001t0029g0112 a0001c0001t0072g0237	3	360	0.0083	52	c.402 others(69): Show c.402+3965_402+3966insGGAAGGAAGGAAGGAAGGACGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	3/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102415543	T T	TTTCCTTC others(45): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCGTCCTTCCTTCCT TCC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19077.hp2 NA19066.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0021 a0001c0001t0011 a0001c0001t0021	a0001c0001t0011g0351 a0001c0001t0021g0350 a0001c0001t0011g0351 a0001c0001t0021g0350	2	360	0.0056	52	c.402 others(69): Show c.402+3965_402+3966insGGAAGGAAGGAAGGACGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	3/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102415543	T T	TTTCCTTC others(45): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCGTCCTTCCT TCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0080 a0001c0001t0020g0080	1	360	0.0028	52	c.402 others(69): Show c.402+3965_402+3966insGGAAGGAAGGACGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	3/3			chr12	TogoVar

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