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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GMEB2_chr20_63582605_63632101	63609584	A A	ACCCACAC others(97): Show ACCCACACATCCATTTCTAGAAACATGCCCCTCTGACCCCACCTCCATTT CTAGAAACATGTCCCTCTGACCCCACCTCCATTTCTAGAAACATGCCCCT CTGAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0036 a0001c0007t0007g0036	1	241	0.0041	104	c.132 others(121): Show c.132-4745_132-4744insGTCAGAGGGGCATGTTTCTAGAAATGGA GGTGGGGTCAGAGGGACATGTTTCTAGAAATGGAGGTGGGGTCAGAGGGG CATGTTTCTAGAAATGGATGTGTGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMPR_chr6_16233587_16300549	16266420	G G	GTGAAAAA others(97): Show GTGAAAAAGGTGGCACGTCGGACGTGCCACCTTTAAGAGCTGTAACACTC ACTGTGAAAAAGGTGGCACGTCGGACGTGCCACCTTTAAGAGCTGTAACA CTCAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp2 HG02074.hp1 others(10): Show HG00544.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02523.hp2 NA18967.hp2 NA18970.hp1 NA18981.hp2 NA18997.hp1 NA19001.hp1 NA19074.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0001 a0001c0003t0003 a0002c0007t0002 a0001c0003t0001 a0001c0003t0003 a0002c0007t0002	a0001c0003t0001g0025 a0001c0003t0001g0214 a0001c0003t0001g0224 others(10): Show a0001c0003t0001g0025 a0001c0003t0001g0214 a0001c0003t0001g0224 a0001c0003t0003g0131 a0001c0003t0003g0132 a0001c0003t0003g0216 a0001c0003t0003g0217 a0001c0003t0003g0218 a0001c0003t0003g0219 a0001c0003t0003g0220 a0001c0003t0003g0225 a0001c0003t0003g0226 a0002c0007t0002g0118	13	319	0.0408	104	c.466 others(121): Show c.466-7947_466-7946insCACTGTGAAAAAGGTGGCACGTCGGACG TGCCACCTTTAAGAGCTGTAACACTCACTGAAAAAGGTGGCACGTCGGAC GTGCCACCTTTAAGAGCTGTAACACT		GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
GNG13_chr16_793041_805734	798368	G G	GGGGCTCA others(97): Show GGGGCTCACAGGATGGTGGGAGTGGGGCCGGCAGTGGGGCTCACAGGATG GTGGGAGTGGGGCCGGGCGTGGGGCTCACAGGATAGAGTGAGTGGGGCCG GGCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	382	0.0026	104	c.35 others(113): Show c.350_*351insACGCCCGGCCCCACTCACTCTATCCTGTGAGCCCCA CGCCCGGCCCCACTCCCACCATCCTGTGAGCCCCACTGCCGGCCCCACTC CCACCATCCTGTGAGCCC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding	3/3				350		chr16	TogoVar
GNG13_chr16_793041_805734	798368	G G	GGGGCTCA others(97): Show GGGGCTCACAGGATGGTGGGAGTGGGGCCGGGAGTGGGGCTCACAGGATG GTGGGAGTGGGGCCGGGCGTGGGGCTCACAGGATAGAGTGAGTGGGGCCG GGCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG02080.hp2 others(16): Show HG00558.hp1 HG00642.hp1 HG02080.hp2 HG02602.hp1 HG03669.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18950.hp2 NA18956.hp1 NA18969.hp2 NA18986.hp1 NA19006.hp1 NA19009.hp1 NA19055.hp2 NA19057.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0032 a0001c0002t0003g0005 a0001c0002t0003g0032	19	400	0.0475	104	c.35 others(113): Show c.350_*351insACGCCCGGCCCCACTCACTCTATCCTGTGAGCCCCA CGCCCGGCCCCACTCCCACCATCCTGTGAGCCCCACTCCCGGCCCCACTC CCACCATCCTGTGAGCCC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding	3/3				350		chr16	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440178	C C	CCTCCTGC others(97): Show CCTCCTGCTCCCGCATCATCTCCTCTCCTCCTGCATCTTCTTCTCCCGCT CCCGCATGCTCTCCTCCTCTCGCATCTTCTCCTGGTCCCATGTCTTCTTC TCCTG	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0011 a0001c0010t0001g0011	1	90	0.0111	104	c.229 others(113): Show c.2296_2297insCAGGAGAAGAAGACATGGGACCAGGAGAAGATGCGA GAGGAGGAGAGCATGCGGGAGCGGGAGAAGAAGATGCAGGAGGAGAGGAG ATGATGCGGGAGCAGGAG	p.Gly others(5): Show p.Gly766fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2358/3499	2296/2730	766/909			chr15	TogoVar
GPC6_chr13_93221807_94413020	93510991	A A	ATATATGT others(97): Show ATATATGTGTATATATATGTATATATATGTGTATATATATGTGTATATAT ATGTATATATATGTGTATATATATGTGTATATATATATGTGTGTATATAT ATGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0057 a0001c0001t0010g0057	1	38	0.0263	104	c.161 others(123): Show c.161-34267_161-34266insGTGTATATATATGTATATATATGTGT ATATATATGTGTATATATATGTATATATATGTGTATATATATGTGTATAT ATATATGTGTGTATATATATGTGTATAT		GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
GPCPD1_chr20_5539439_5616006	5568230	G G	GTATATAT others(97): Show GTATATATATATATATATATACTTAGTATATATATATATATATATACTTA GTATATATATATATATATATACTTAGTATATATATATATATATATACTTA GTATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0110 a0001c0001t0018g0110	1	251	0.0040	104	c.115 others(121): Show c.1150-671_1150-670insTATACTAAGTATATATATATATATATAT ACTAAGTATATATATATATATATATACTAAGTATATATATATATATATAT ACTAAGTATATATATATATATATATA		GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	12/19						chr20	TogoVar
GPHN_chr14_66503147_67186803	66683371	T T	TATGTTCA others(97): Show TATGTTCATATATATATGTTCATATATATATGTTCATATATATGTATATG TTCATATATATGTACATATATATGTTCATATATATATGTTCATATATATA TGTTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03195.hp1 HG03471.hp2 HG01071.hp2 HG03195.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024	3	208	0.0144	104	c.143 others(121): Show c.143+2188_143+2189insGTTCATATATATATGTTCATATATATAT GTTCATATATATGTATATGTTCATATATATGTACATATATATGTTCATAT ATATATGTTCATATATATATGTTCAT		GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143218186	C C	CCCCAACA others(97): Show CCCCAACACCACCCCCACACCCACCCCCCACACCACCCCCAACACCACCC CCCACACCGACCCCCAACACCACCCCCAACACCACCCCCCAACACCACCC CCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0002 a0001c0003t0012g0002	1	93	0.0108	104	c.26 others(115): Show c.2668_*2669insCCCAACACCACCCCCACACCCACCCCCCACACCA CCCCCAACACCACCCCCCACACCGACCCCCAACACCACCCCCAACACCAC CCCCCAACACCACCCCCCAA		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding					1017		chr8	TogoVar
GPR137B_chr1_236137539_236213907	236186277	A A	ATCTATAA others(97): Show ATCTATAATATATAATATAAATAATATATAATATATATTATATATTATAT ATAATATATATAATATATAATATATATTATATATTATATATAATATATAT AATAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19078.hp1 NA18986.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0112 a0001c0001t0011g0364 a0001c0001t0008g0112 a0001c0001t0011g0364	2	182	0.0110	104	c.966 others(121): Show c.966+2371_966+2372insTCTATAATATATAATATAAATAATATAT AATATATATTATATATTATATATAATATATATAATATATAATATATATTA TATATTATATATAATATATATAATAT		GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6						chr1	TogoVar
GPR139_chr16_20023239_20078890	20041250	G G	GGAGAGGA others(97): Show GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp1 HG01516.hp1 others(8): Show HG01099.hp2 HG01433.hp1 HG01516.hp1 HG02074.hp2 HG02165.hp2 HG02615.hp1 HG02809.hp1 HG03540.hp1 HG03540.hp2 HG03942.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0012 a0001c0001t0015 others(3): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0015 a0001c0001t0036 a0001c0002t0001 a0001c0002t0004	a0001c0001t0002g0078 a0001c0001t0002g0099 a0001c0001t0012g0335 others(8): Show a0001c0001t0002g0078 a0001c0001t0002g0099 a0001c0001t0012g0335 a0001c0001t0012g0336 a0001c0001t0015g0179 a0001c0001t0036g0234 a0001c0002t0001g0009 a0001c0002t0001g0133 a0001c0002t0004g0254 a0001c0002t0004g0255 a0001c0002t0004g0304	11	209	0.0526	104	c.128 others(121): Show c.128-8582_128-8581insTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTC		GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1						chr16	TogoVar
GPR15LG_chr10_84168801_84190294	84181050	T T	TGGCTCAG others(97): Show TGGCTCAGCATCAGAGGGAGACCGTGCAAAGAGGAGGGAGAGGGAGAGGC CTGGGCTCAGCATCAGAGGGAGACCGTGCAAAGAGGAGGGAGAGGGAGAG GCCTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	368	0.0027	104	c.161 others(121): Show c.161-3531_161-3530insCCTGGGCTCAGCATCAGAGGGAGACCGT GCAAAGAGGAGGGAGAGGGAGAGGCCTGGGCTCAGCATCAGAGGGAGACC GTGCAAAGAGGAGGGAGAGGGAGAGG		GPR15LG	ENSG00000188373.5	transcript	ENST00000372126.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
GRAMD1A_chr19_34995323_35031469	35022695	A A	AGGATGGA others(97): Show AGGATGGAGCCTGCAGGAGCTGGGGGGCAGGACGCTGGGAGGAAACAGAA GCGGGATGGAGCCTGCAGGAGCTGGCGGGCAGGACGCTGGGAGGAAACAG AAGCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	302	0.0033	104	c.184 others(121): Show c.1842-201_1842-200insGGAGCCTGCAGGAGCTGGGGGGCAGGAC GCTGGGAGGAAACAGAAGCGGGATGGAGCCTGCAGGAGCTGGCGGGCAGG ACGCTGGGAGGAAACAGAAGCGGGAT		GRAMD1A	ENSG00000089351.15	transcript	ENST00000317991.10	protein_coding	16/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
GRHL1_chr2_9946693_10007277	9998525	T T	TATATACG others(97): Show TATATACGTATATATATACGTATATATACGTATATATATACGTATATATA TACGTATATATATACGTATATACGTATATATACATATATATACGTATATA TATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	394	0.0025	104	c.167 others(121): Show c.1678-435_1678-434insCGTATATATATACGTATATATACGTATA TATATACGTATATATATACGTATATATATACGTATATACGTATATATACA TATATATACGTATATATATACATATA		GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998867	T T	TATATGTA others(97): Show TATATGTACACATATATATGTACACATATATGTATACATATATATGTACA CATATATATGTACACATATATGTACACATATATATGTACACATATATATG TACAC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	399	0.0025	104	c.167 others(119): Show c.1678-94_1678-93insGTACACATATATATGTACACATATATGTAT ACATATATATGTACACATATATATGTACACATATATGTACACATATATAT GTACACATATATATGTACACATAT		GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
GRIA2_chr4_157215728_157371075	157256238	A A	ATATTACA others(97): Show ATATTACATATATATGTTATATATTATATATAATATATAACATATATTAC ATATATATGTTATATATTATATATAATATATAATATTATATATAATATAT AATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	143	0.0070	104	c.229 others(123): Show c.229+34434_229+34435insTACATATATATGTTATATATTATATA TAATATATAACATATATTACATATATATGTTATATATTATATATAATATA TAATATTATATATAATATATAATATTAT		GRIA2	ENSG00000120251.22	transcript	ENST00000264426.14	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIA3_chrX_123179278_123495915	123260418	C C	CAGAAAGA others(97): Show CAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0015 a0001c0002t0005g0015	1	23	0.0435	104	c.508 others(121): Show c.508+6879_508+6880insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAAAGA		GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	3/15					INFO_REALIGN_3_PRIME	chrX	TogoVar
GRID2_chr4_92298966_93779566	92460045	T T	TACATATA others(97): Show TACATATATATATATATATATATATATATATATATATACGTATATATATA TATATATATATATATACACATATATATATATATATATATATATATATATA TATAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	34	0.0294	104	c.89- others(123): Show c.89-130085_89-130084insCATATATATATATATATATATATATA TATATATATACGTATATATATATATATATATATATATACACATATATATA TATATATATATATATATATATATATACA		GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
GRP_chr18_59215158_59235771	59234059	G G	GTATATAT others(97): Show GTATATATATTATATATATAGTATATATATTATATATACTATATAGTATA TTATATATATATTATATATATAGTATATATATTATATATACTATATAGTA TATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18955.hp1 NA18991.hp1 others(1): Show NA18939.hp2 NA18955.hp1 NA18991.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0030 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0033	4	380	0.0105	104	c.35 others(115): Show c.3591_*3592insTATATATATTATATATATAGTATATATATTATAT ATACTATATAGTATATTATATATATATTATATATATAGTATATATATTAT ATATACTATATAGTATATTA		GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding					3289		chr18	TogoVar
GTF2H5_chr6_158163350_158204344	158169707	G G	GTATATTG others(97): Show GTATATTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATA TTATATAATATATTGTATATTATATGTAATATATTGTATATTATATATTA TATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01192.hp1 others(15): Show HG00140.hp1 HG00323.hp1 HG01192.hp1 HG01243.hp1 HG02145.hp2 HG02257.hp1 HG02572.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02895.hp1 HG03486.hp1 HG03516.hp2 HG03834.hp1 NA19056.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0018 a0001c0001t0036 others(8): Show a0001c0001t0017 a0001c0001t0018 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0001t0092 a0001c0001t0095 a0001c0001t0098 a0001c0001t0101 a0001c0001t0102 a0001c0001t0124	a0001c0001t0017g0018 a0001c0001t0017g0262 a0001c0001t0017g0272 others(14): Show a0001c0001t0017g0018 a0001c0001t0017g0262 a0001c0001t0017g0272 a0001c0001t0018g0018 a0001c0001t0018g0019 a0001c0001t0018g0270 a0001c0001t0036g0268 a0001c0001t0037g0044 a0001c0001t0037g0264 a0001c0001t0041g0019 a0001c0001t0041g0271 a0001c0001t0092g0265 a0001c0001t0095g0044 a0001c0001t0098g0266 a0001c0001t0101g0269 a0001c0001t0102g0267 a0001c0001t0124g0019	18	368	0.0489	104	c.-34 others(119): Show c.-34-757_-34-756insGTATAATATATTGTATATTGTATAATATAT TGTATATTGTATATTATATAATATATTGTATATTATATGTAATATATTGT ATATTATATATTATATAATATATT		GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169707	G G	GTATATTG others(97): Show GTATATTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATA TTATATAATATATTGTATATTATATGTAATATATTGTATATTATATATTA TGTAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02818.hp2 HG02572.hp2 HG02630.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0096 a0001c0001t0097 a0001c0001t0090 a0001c0001t0096 a0001c0001t0097	a0001c0001t0090g0259 a0001c0001t0096g0260 a0001c0001t0097g0274 a0001c0001t0090g0259 a0001c0001t0096g0260 a0001c0001t0097g0274	3	353	0.0085	104	c.-34 others(119): Show c.-34-757_-34-756insGTATAATATATTGTATATTGTATAATATAT TGTATATTGTATATTATATAATATATTGTATATTATATGTAATATATTGT ATATTATATATTATGTAATATATT		GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169707	G G	GTATATTG others(97): Show GTATATTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATA TTATGTAATATATTGTATATTATATGTAATATATTGTATATTATATATTA TATAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01496.hp1 HG01256.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0045 a0001c0001t0035g0045	2	352	0.0057	104	c.-34 others(119): Show c.-34-757_-34-756insGTATAATATATTGTATATTGTATAATATAT TGTATATTGTATATTATGTAATATATTGTATATTATATGTAATATATTGT ATATTATATATTATATAATATATT		GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GTPBP4_chr10_983434_1024932	1011138	C C	CCTCTTCA others(97): Show CCTCTTCATTCTCCTGCACCCCTCCATCCTGACTGTGCCTCCTGCACCAC CTTCCCCCCCACCCTGTGTCTCCGCCAGGCCCTGGATGGGCTCTGCTGTG CTGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00639.hp1 others(3): Show HG00323.hp1 HG00597.hp2 HG00639.hp1 HG02015.hp2 NA19067.hp1 NA19083.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0007c0011	a0001c0001t0002 a0001c0002t0002 a0001c0002t0050 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0050 a0002c0003t0006 a0007c0011t0014	a0001c0001t0002g0234 a0001c0002t0002g0129 a0001c0002t0002g0159 others(3): Show a0001c0001t0002g0234 a0001c0002t0002g0129 a0001c0002t0002g0159 a0001c0002t0050g0066 a0002c0003t0006g0095 a0007c0011t0014g0109	6	358	0.0168	104	c.134 others(121): Show c.1344+619_1344+620insTCTTCATTCTCCTGCACCCCTCCATCCT GACTGTGCCTCCTGCACCACCTTCCCCCCCACCCTGTGTCTCCGCCAGGC CCTGGATGGGCTCTGCTGTGCTGGGC		GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
GUCA2A_chr1_42157690_42169745	42166942	T T	TGTGTGTG others(97): Show TGTGTGTGTATACACTGAGGTGCGTGTGTGTGCTGAGGTGTGTGTGTGCT GACATGTGTGTATACACTGAGGTGCGTGTATGTGCTGAGGTGTGTGAGTG CTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0022 a0001c0007t0001g0022	1	431	0.0023	104	c.-22 others(115): Show c.-2231_-2230insGTCAGCACTCACACACCTCAGCACATACACGCAC CTCAGTGTATACACACATGTCAGCACACACACACCTCAGCACACACACGC ACCTCAGTGTATACACACAC		GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding					2198		chr1	TogoVar
GZMM_chr19_539053_554922	550457	T T	TGTCACCC others(97): Show TGTCACCCCAGCACCCCGAAACAGGCCCGTCCCCAGTCACCCCAGCACCC CGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGT CCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	394	0.0025	104	c.66 others(113): Show c.666_*667insGTCACCCCAGCACCCCGAAACAGGCCCGTCCCCAGT CACCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCG AAAACAGGCCCGTCCCCA		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					536		chr19	TogoVar
GZMM_chr19_539053_554922	550462	C C	CCCCAGCA others(97): Show CCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAA AACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGTCCCC AGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01516.hp1 HG00099.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	104	c.67 others(113): Show c.671_*672insCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACC CCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAA CAGGCCCGTCCCCAGTCA		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					541		chr19	TogoVar
GZMM_chr19_539053_554922	550627	T T	TCACCCCA others(97): Show TCACCCCAGCACCCCAAAAACAGCCCTGTCCCCACTGTCACCCCAGCACC CCGAAAACAGGCCTGTCCCCACTGTCACCCCAGCACCCCGAAAACAGGCC CGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA19000.hp2 NA18993.hp1 NA19000.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0222 a0001c0003t0002g0224 a0001c0003t0002g0222 a0001c0003t0002g0224	2	396	0.0051	104	c.83 others(113): Show c.836_*837insCACCCCAGCACCCCAAAAACAGCCCTGTCCCCACTG TCACCCCAGCACCCCGAAAACAGGCCTGTCCCCACTGTCACCCCAGCACC CCGAAAACAGGCCCGTCC		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					706		chr19	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(97): Show CATATATATATATATATATATATATATATATATATATATATATACGTATA TATATGTGTATATATATATGTATATATATATATATATACACATATATATA CGTAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	109	0.0092	104	c.771 others(121): Show c.771+2337_771+2338insTATATATATATACGTATATATATGTGTA TATATATATGTATATATATATATATATACACATATATATACGTATATATA TATATATATATATATATATATATATA		HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(97): Show CATATATATATATATATATATATATATATATATATATATATATATATATA CGTATATATATGTGTATATATATATGTATATATATATATATATACACATA TATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	109	0.0092	104	c.771 others(121): Show c.771+2337_771+2338insTATATATATATATATATACGTATATATA TGTGTATATATATATGTATATATATATATATATACACATATATATATATA TATATATATATATATATATATATATA		HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
HAP1_chr17_41717640_41739643	41730127	A A	AAGAGAAA others(97): Show AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0241 a0007c0007t0002g0241	1	61	0.0164	104	c.106 others(123): Show c.1069+1365_1069+1366insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTCT		HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10						chr17	TogoVar
HBM_chr16_160978_171764	164711	G G	GGCGGGGC others(97): Show GGCGGGGCGCGGTGCGGGCGGGGCGGGGCGGGGCCGCGGGGCGGGGCGGG GTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCG GGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	104	c.-12 others(115): Show c.-1287_-1286insGCGGGGCGCGGTGCGGGCGGGGCGGGGCGGGGCC GCGGGGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGG CGGGGTCGCGGGGCGGGGTC		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					1266		chr16	TogoVar
HBQ1_chr16_175459_186179	186115	C C	CGGGAGGA others(97): Show CGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGAACAGCGAC ACGGGGAACAGCGACACGGGAGGAACAGCGACACGGGAGGAACAGCGACA CGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	382	0.0026	104	c.50 others(115): Show c.5007_*5008insGGGAGGAACAGCGACACGGGGGGAACAGCGACAC GGGAGGAACAGCGACACGGGGAACAGCGACACGGGAGGAACAGCGACACG GGAGGAACAGCGACACGGGA		HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding					4937		chr16	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(97): Show TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0071 a0001c0014t0003g0071	1	212	0.0047	104	c.633 others(121): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTC		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605592	T T	TGGGGACC others(97): Show TGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTACAGA GGCGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTACA GAGGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0001 a0002c0038t0001	a0002c0038t0001g0277 a0002c0038t0001g0277	1	264	0.0038	104	c.121 others(121): Show c.1218+421_1218+422insCGGGGACCCAGGCGCCCCCTTATGGAGG GGAGGACTCGGGCCCTTACAGAGGCGGGGACCCAGGCGCCCCCTTATGGA GGGGAGGACTCGGGCCCTTACAGAGG		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HERC6_chr4_88373852_88448097	88379812	T T	TATATATA others(97): Show TATATATAATATATAAATATATATATAACATATAAATATATATAACATAT AAATATATATATAACATATAAATATATATAATATATAAATATATATAACA TATAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0165 a0002c0002t0001g0165	1	168	0.0060	104	c.199 others(119): Show c.199+699_199+700insATATATAAATATATATATAACATATAAATA TATATAACATATAAATATATATATAACATATAAATATATATAATATATAA ATATATATAACATATAAATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88379812	T T	TATATATA others(97): Show TATATATAATATATAAATATATATATAACATATAAATATATATAATATAT AAATATATATATAACATATAAATATATATAATATATAAATATATATAACA TATAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03927.hp1 NA18971.hp1 HG02523.hp2 HG03927.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0167 a0002c0002t0001g0166 a0002c0002t0001g0170 a0001c0001t0001g0167 a0002c0002t0001g0166 a0002c0002t0001g0170	3	170	0.0176	104	c.199 others(119): Show c.199+699_199+700insATATATAAATATATATATAACATATAAATA TATATAATATATAAATATATATATAACATATAAATATATATAATATATAA ATATATATAACATATAAATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88379937	T T	TATATATA others(97): Show TATATATAATATATAAATATATATAATATATAAATATATATATAATATAT AAATATATATAATATATAAATATATATATAATATATAAATATATATAATA TATAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG02647.hp2 HG02809.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0004 a0005c0007t0001g0003 a0001c0001t0001g0004 a0005c0007t0001g0003	2	151	0.0132	104	c.199 others(119): Show c.199+824_199+825insATATATAAATATATATAATATATAAATATA TATATAATATATAAATATATATAATATATAAATATATATATAATATATAA ATATATATAATATATAAATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380376	T T	TATAAATA others(97): Show TATAAATATATATATAATATATAAATATATATAATATATATATAATATAT AAATATATATAATATATAAATATATATATAATATATAAATATATATATAA TATAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02165.hp1 HG03209.hp1 others(6): Show HG01257.hp1 HG02165.hp1 HG03209.hp1 NA18939.hp2 NA18959.hp2 NA18979.hp2 NA18983.hp2 NA19000.hp1 NA20905.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0013 a0001c0001 a0002c0002 a0012c0013	a0001c0001t0001 a0002c0002t0001 a0012c0013t0001 a0001c0001t0001 a0002c0002t0001 a0012c0013t0001	a0001c0001t0001g0055 a0001c0001t0001g0151 a0001c0001t0001g0152 others(6): Show a0001c0001t0001g0055 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0002c0002t0001g0148 a0002c0002t0001g0160 a0002c0002t0001g0165 a0012c0013t0001g0149	9	155	0.0581	104	c.199 others(121): Show c.199+1259_199+1260insAATATATATATAATATATAAATATATAT AATATATATATAATATATAAATATATATAATATATAAATATATATATAAT ATATAAATATATATATAATATAAATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HGS_chr17_81679011_81707121	81686754	G G	GCTGCTGT others(97): Show GCTGCTGTCCCACCGGGTTCCCCACCGGCCACTGACGGGCCTGTCGAAGG GCTCTGCTGTCCCACCGGGTTCCCCACCGGCCACTGACGGGCCTGTCGAA GGGCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18954.hp2 HG02015.hp1 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0038 a0002c0002t0002g0070 a0002c0002t0002g0038 a0002c0002t0002g0070	2	347	0.0058	104	c.199 others(119): Show c.199-175_199-174insACCGGCCACTGACGGGCCTGTCGAAGGGCT CTGCTGTCCCACCGGGTTCCCCACCGGCCACTGACGGGCCTGTCGAAGGG CTCTGCTGTCCCACCGGGTTCCCC		HGS	ENSG00000185359.14	transcript	ENST00000329138.9	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr17	TogoVar
HIGD1C_chr12_50947544_50975607	50948917	G G	GGGGGGAG others(97): Show GGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGACGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0011 a0001c0005t0001g0011	1	209	0.0048	104	c.-38 others(115): Show c.-3862_-3861insGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGACGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3626		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948917	G G	GGGGGGAG others(97): Show GGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 NA18962.hp1 NA18986.hp1 others(2): Show HG04199.hp2 NA18962.hp1 NA18986.hp1 NA18998.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0173	5	213	0.0235	104	c.-38 others(115): Show c.-3862_-3861insGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3626		chr12	TogoVar
HIPK4_chr19_40374271_40395181	40377299	C C	CACAGGCA others(97): Show CACAGGCAGAGGGGTCAGGGCTGGGATGGAGGAGGTACAGGCAGAGGGGT CAGGGCTGGGATGGGGGGGCACAGGCAGAGGGGTCAGGGCTGGGATGGAG GAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(143): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18986.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1	a0001 a0006 a0007 others(3): Show a0001 a0006 a0007 a0011 a0014 a0015	a0001c0001 a0001c0014 a0006c0008 others(4): Show a0001c0001 a0001c0014 a0006c0008 a0007c0007 a0011c0015 a0014c0016 a0015c0018	a0001c0001t0001 a0001c0001t0003 a0001c0014t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0014t0001 a0006c0008t0001 a0007c0007t0001 a0011c0015t0001 a0014c0016t0001 a0015c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0003g0050 a0001c0014t0001g0120 a0006c0008t0001g0045 a0006c0008t0001g0126 a0007c0007t0001g0044 a0007c0007t0001g0117 a0011c0015t0001g0133 a0014c0016t0001g0121 a0015c0018t0001g0122	146	289	0.5052	104	c.22 others(115): Show c.2287_*2288insACCTCCTCCATCCCAGCCCTGACCCCTCTGCCTG TGCCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTACCTCCTCCATCCCA GCCCTGACCCCTCTGCCTGT		HIPK4	ENSG00000160396.9	transcript	ENST00000291823.3	protein_coding					1971		chr19	TogoVar
HMOX1_chr22_35376096_35399207	35389395	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	276	0.0036	104	c.637 others(119): Show c.637-466_637-465insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTT		HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr22	TogoVar
HRH3_chr20_62209960_62225278	62213413	G G	GGGGAGGG others(97): Show GGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGTAAG GGAGAGCGGGGATGGGGGAGGGAGAGCGGGGGATGGGGGAAGGGAGAGCA AGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0051 a0003c0007t0001g0051	1	352	0.0028	104	c.25 others(115): Show c.2592_*2593insATCCTTGCTCTCCCTTCCCCCATCCCCCGCTCTC CCTCCCCCATCCCCGCTCTCCCTTACCCCCCATCCCTGCTCTCCCTTCCC CCATCCCCGCTCTCCCTCCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1546		chr20	TogoVar
HSF1_chr8_144286604_144319720	144313723	G G	GCCCCGCC others(97): Show GCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCC CCGCACCGCCTCCCCGCACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGC CGCCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	253	0.0040	104	c.124 others(119): Show c.1249-70_1249-69insACCGCCTCCCCGCACCGCCTCCCCGCGCCG CCTCCCCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGCCTCCCCGCCTCCC CGCCCCGCCTCCCCGCCTCCCCGC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
HUS1B_chr6_650939_662100	658666	T T	TATATATT others(97): Show TATATATTTTATATATATATATATATATATATATATTTTATATATATATA TATATTTTATATATATATATATATATATATATATTTATATATATATATAT ATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	323	0.0031	104	c.-17 others(115): Show c.-1723_-1722insTATATATATATATATATATAAATATATATATATA TATATATATATATAAAATATATATATATATATAAAATATATATATATATA TATATATATATAAAATATAT		HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding					1567		chr6	TogoVar
ICOSLG_chr21_44217991_44245943	44225639	G G	GTGAGCTG others(97): Show GTGAGCTGGGGACAGCATGGGGAGGGGGACAGTGGGGAGGGGGGAGAGCG GGGTGAGCTGGGGACAGCATGGGGAGGGGGACAGTGGGGAGGGGGGAGAG CGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG02886.hp2 HG03098.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0014 a0003c0003t0013 a0002c0001t0014 a0003c0003t0013	a0002c0001t0014g0032 a0003c0003t0013g0013 a0002c0001t0014g0032 a0003c0003t0013g0013	2	39	0.0513	104	c.33 others(115): Show c.3394_*3395insACCCGCTCTCCCCCCTCCCCACTGTCCCCCTCCC CATGCTGTCCCCAGCTCACCCCGCTCTCCCCCCTCCCCACTGTCCCCCTC CCCATGCTGTCCCCAGCTCA		ICOSLG	ENSG00000160223.18	transcript	ENST00000407780.8	protein_coding	7/7				3394		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322585	A A	ACGGAATA others(97): Show ACGGAATATATATACGGAATATATATGGAATATATATACGGAATATATAT ACGGAATATATATACGGAATATATATACGGAATATATATACGGAATATAT ATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	315	0.0032	104	c.-24 others(115): Show c.-2471_-2470insCGGAATATATATACGGAATATATATGGAATATAT ATACGGAATATATATACGGAATATATATACGGAATATATATACGGAATAT ATATACGGAATATATATACG		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2384		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323024	T T	TATATATA others(97): Show TATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATATGGAATATATAT ATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0170 a0001c0001t0018g0170	1	319	0.0031	104	c.-20 others(115): Show c.-2032_-2031insATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATATGGAATATATATATGGA		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1945		chr21	TogoVar
IGF2R_chr6_159964082_160116504	159980226	A A	AGAAGGAA others(97): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0041 a0001c0004t0041	a0001c0004t0041g0264 a0001c0004t0041g0264	1	290	0.0034	104	c.149 others(123): Show c.149+10834_149+10835insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAA		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47					INFO_REALIGN_3_PRIME	chr6	TogoVar

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