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
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(92): Show GAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	248	0.0040	99	c.-40 others(110): Show c.-4014_-4013insAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATAT ATATATATATATATA		FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding					3971		chr11	TogoVar
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(92): Show GAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	248	0.0040	99	c.-40 others(110): Show c.-4014_-4013insAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATAT ATATATATATATATA		FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding					3971		chr11	TogoVar
FKBP2_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(92): Show GAGAGAGAGAGAGAAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	234	0.0043	99	c.-40 others(110): Show c.-4011_-4010insAGAGAGAGAGAGAAGAGAGAAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATAT ATATATATATATATA		FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding					3968		chr11	TogoVar
FLT4_chr5_180596506_180654600	180632238	A A	AGGCCTCG others(92): Show AGGCCTCGTCCCCTCCTGCCTGCTCTCTGCCAGGGGCCTCGCCCCCTCCT GCCTGCTCTCTGCCAGGGGCCTCGCCCCCTCCTGCCTGCTCTCTGCCAGG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0231 a0002c0004t0005g0231	1	359	0.0028	99	c.59- others(112): Show c.59-461_59-460insCCTGGCAGAGAGCAGGCAGGAGGGGGCGAGGC CCCTGGCAGAGAGCAGGCAGGAGGGGGCGAGGCCCCTGGCAGAGAGCAGG CAGGAGGGGACGAGGCC		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29						chr5	TogoVar
FMN2_chr1_240086883_240480187	240207647	G G	GCCCCCTC others(92): Show GCCCCCTCTTCCCGGGGCAGGCATACCCCTTCCTCCCCCTCTTCCCGGAG CAGGAATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCTTCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp1 HG02970.hp2 NA20129.hp2 HG02257.hp1 HG02970.hp2 NA20129.hp2	a0024 a0058 a0024 a0058	a0024c0104 a0024c0132 a0058c0049 a0024c0104 a0024c0132 a0058c0049	a0024c0104t0008 a0024c0132t0005 a0058c0049t0007 a0024c0104t0008 a0024c0132t0005 a0058c0049t0007	a0024c0104t0008g0167 a0024c0132t0005g0146 a0058c0049t0007g0157 a0024c0104t0008g0167 a0024c0132t0005g0146 a0058c0049t0007g0157	3	145	0.0207	99	c.284 others(108): Show c.2843_2844insTCCCGGGGCAGGCATACCCCTTCCTCCCCCTCTTCC CGGAGCAGGAATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCC TTCCTCCCCCTCT	p.Leu others(112): Show p.Leu948_Pro949insProGlyAlaGlyIleProLeuProProProLe uProGlyAlaGlyIleProProProProProLeuProGlyAlaGlyIleP roLeuProProProLeu	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3071/6429	2844/5169	948/1722		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207734	A A	AATACCTC others(92): Show AATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCC CACTTCCCGGAGCGGGCATACCTCCTCCGCCCCCACTTCCCGGAGCGGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02040.hp1 HG02165.hp1 HG02040.hp1 HG02165.hp1	a0017 a0017	a0017c0109 a0017c0125 a0017c0109 a0017c0125	a0017c0109t0003 a0017c0125t0003 a0017c0109t0003 a0017c0125t0003	a0017c0109t0003g0118 a0017c0125t0003g0126 a0017c0109t0003g0118 a0017c0125t0003g0126	2	96	0.0208	99	c.299 others(108): Show c.2993_2994insTCCTCCGCCCCCACTTCCCGGAGCGGGCATACCTCC TCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCG GAGCGGGCATACC	p.Pro others(112): Show p.Pro998_Pro999insProProProProLeuProGlyAlaGlyIlePr oProProProProLeuProGlyAlaGlyIleProProProProProLeuP roGlyAlaGlyIlePro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3221/6429	2994/5169	998/1722		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207734	A A	AATACCTC others(92): Show AATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCC CACTTCCCGGGGCAGGCATACCCCTTCCTCCCCCTCTTCCCGGAGCGGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02040.hp2 HG02040.hp2	a0044 a0044	a0044c0048 a0044c0048	a0044c0048t0001 a0044c0048t0001	a0044c0048t0001g0029 a0044c0048t0001g0029	1	95	0.0105	99	c.298 others(108): Show c.2981_2982insGGCAGGCATACCCCTTCCTCCCCCTCTTCCCGGAGC GGGCATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTC CCCCACTTCCCGG	p.Gly others(112): Show p.Gly994_Ala995insAlaGlyIleProLeuProProProLeuProGl yAlaGlyIleProProProProProLeuProGlyAlaGlyIleProProP roProProLeuProGly	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3209/6429	2982/5169	994/1722		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207788	T T	TCCCGGAG others(92): Show TCCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATAC CCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp1 HG01891.hp1	a0041 a0041	a0041c0032 a0041c0032	a0041c0032t0001 a0041c0032t0001	a0041c0032t0001g0015 a0041c0032t0001g0015	1	110	0.0091	99	c.299 others(108): Show c.2999_3000insTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCTCC CCCACTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAGCGG GCATACCCCCTCC	p.Pro others(114): Show p.Pro1000_Pro1001insProProLeuProGlyAlaGlyIleProPro ProProProLeuProGlyAlaGlyIleProProProProProLeuProGl yAlaGlyIleProProPro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3227/6429	3000/5169	1000/1722		INFO_REALIGN_3_PRIME	chr1	TogoVar
FN3K_chr17_82730615_82756196	82738947	T T	TATATATA others(92): Show TATATATATATACGTGTATATATATATATACGTATATATATATACGTATA TATATACGTGTATATATATATATATACACGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0117 a0001c0001t0003g0003 a0001c0001t0003g0117	2	343	0.0058	99	c.293 others(114): Show c.293+307_293+308insATATATATATACGTGTATATATATATATAC GTATATATATATACGTATATATATACGTGTATATATATATATATACACGT GTATATATATATATATATA		FN3K	ENSG00000167363.14	transcript	ENST00000300784.8	protein_coding	2/5						chr17	TogoVar
FN3K_chr17_82730615_82756196	82738947	T T	TATATATA others(92): Show TATATATATATATACGTGTATATATATATATACGTATATATATATACGTA TATATATACGTGTATATATATATATATACACGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG01081.hp2 others(6): Show HG00733.hp1 HG00741.hp1 HG01081.hp2 HG01516.hp2 HG02135.hp1 HG02273.hp2 HG02735.hp1 HG03710.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0034 a0001c0001t0003g0003 a0001c0001t0003g0114 others(2): Show a0001c0001t0001g0034 a0001c0001t0003g0003 a0001c0001t0003g0114 a0001c0001t0003g0120 a0001c0001t0003g0121	9	350	0.0257	99	c.293 others(114): Show c.293+307_293+308insATATATATATATACGTGTATATATATATAT ACGTATATATATATACGTATATATATACGTGTATATATATATATATACAC GTGTATATATATATATATA		FN3K	ENSG00000167363.14	transcript	ENST00000300784.8	protein_coding	2/5						chr17	TogoVar
FOXJ3_chr1_42171548_42340235	42222007	G G	GAGGAGGA others(92): Show GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	299	0.0033	99	c.528 others(116): Show c.528+5875_528+5876insTCTCCTTCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCT		FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12						chr1	TogoVar
FOXN3_chr14_89151177_89422233	89360933	A A	ACCACCAC others(92): Show ACCACCACCTCCAGCACCACCACCACCACCACCTCCACCACCACCACCTC CAGCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0050 a0001c0001t0007g0050	1	191	0.0052	99	c.544 others(118): Show c.544-10126_544-10125insAGGTGGTGCTGGAGGTGGTGGTGGTG GAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGCTGGAGGTGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360999	T T	TCCACCAC others(92): Show TCCACCACTACCACCTCCACCACCACCTCCACCACTACCACCTCCACCAC TACCACCTCCAGCACCACCTCCAGCACCACCTCCACCACTACCACCTCCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0091 a0001c0001t0014g0091	1	188	0.0053	99	c.544 others(118): Show c.544-10192_544-10191insTGGAGGTGGTAGTGGTGGAGGTGGTG CTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTAGTGGTGGAGGT GGTGGTGGAGGTGGTAGTGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361221	A A	ACCACTAC others(92): Show ACCACTACCACCACCACCACCACCACCACCACTACCACCACCACCACCTC CACCACCACCACCTCCACCACCACCACCACCACTACCACCACCACCACCT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0133 a0001c0001t0011g0133	1	219	0.0046	99	c.544 others(118): Show c.544-10414_544-10413insAGGTGGTGGTGGTGGTAGTGGTGGTG GTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTAGTGGTGGT GGTGGTGGTGGTGGTGGTAGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361781	G G	GCACCACC others(92): Show GCACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCC AGCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03239.hp1 HG03017.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0035 a0001c0001t0014g0105 a0001c0001t0001g0035 a0001c0001t0014g0105	2	101	0.0198	99	c.544 others(118): Show c.544-10974_544-10973insGAGGTGGTGCTGGAGGTGGTGGTGGT GGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGCTGGAGGTGGTAGTGG TGGAGGTGGTGCTGGAGGTGGTG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362428	A A	ACCACCAC others(92): Show ACCACCACCTCCACCACCACCACCACCACCTCCAGCACCACCTCTACCAC CACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCTCCACCACCACCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	193	0.0052	99	c.544 others(118): Show c.544-11621_544-11620insAGGTGGTGGTGGAGGAGGAGGAGGAG GTGGTGGTGGTGCTGGAGGTGGTGGTGGTAGAGGTGGTGCTGGAGGTGGT GGTGGTGGTGGTGGAGGTGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362586	G G	GACCACCA others(92): Show GACCACCACCACCATCTCCACCACCACCTCCACCACCATCTCCACCACCA CCACCACCACCATCTCCACCACCACCTCCACCACCATCTCCACCACCACC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	125	0.0080	99	c.544 others(118): Show c.544-11779_544-11778insGGTGGTGGTGGAGATGGTGGTGGAGG TGGTGGTGGAGATGGTGGTGGTGGTGGTGGTGGAGATGGTGGTGGAGGTG GTGGTGGAGATGGTGGTGGTGGT		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FRMD3_chr9_83239622_83543401	83479628	G G	GAAAGAAA others(92): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	235	0.0043	99	c.147 others(118): Show c.147+58456_147+58457insTCCTTCCTTCCTTCCCTCCCTCCCTC CCTCCCTCCCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTT		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
GALP_chr19_56171008_56190775	56176509	G G	GGGGTGAG others(92): Show GGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGC GGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCAGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03540.hp2 HG02622.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0243 a0001c0001t0003g0244	2	366	0.0055	99	c.-40 others(114): Show c.-40+450_-40+451insTGAGAGCCTAGGCCAGGAGGGCAGAGGGGC GGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGC GGCTGCCAGCTGCAGCGGG		GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
GALR1_chr18_77244848_77282900	77252998	C C	CCACCATC others(92): Show CCACCATCACCACCACCATCACCACCACCACCATCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0053 a0003c0007t0053	a0003c0007t0053g0137 a0003c0007t0053g0137	1	258	0.0039	99	c.666 others(116): Show c.666+1789_666+1790insTCACCACCACCATCACCACCACCACCAT CACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCA CCATCACCACCACCATCACCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GAPVD1_chr9_125256826_125372207	125293618	T T	TTTATATA others(92): Show TTTATATATATTATATATATATAATATAAAAATATATATATTATATATAT ATAATATAAAAATATATATATTATATATATATAATATAAAAATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03831.hp2 NA19004.hp1 HG03041.hp1 HG03831.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0215 a0001c0001t0001g0228 a0001c0001t0001g0191 a0001c0001t0001g0215 a0001c0001t0001g0228	3	184	0.0163	99	c.-14 others(118): Show c.-149-1790_-149-1789insTAATATAAAAATATATATATTATATA TATATAATATAAAAATATATATATTATATATATTATATATATATAATATA AAAATATATATATTATATATATA		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GEMIN4_chr17_739421_757264	749003	C C	CAGCAATC others(92): Show CAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACGGCCA CAGGATAATGGGCACAGAGCAATCACACGGCCACAGGATAATGGGCACAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0007 a0002c0006t0001g0007	1	314	0.0032	99	c.11- others(112): Show c.11-972_11-971insCTGTGCCCATTATCCTGTGGCCGTGTGATTGC TCTGTGCCCATTATCCTGTGGCCGTGTGATTGCTCTGTGCCCATTATCCT GTGGCCGTGTGATTGCT		GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding	1/1						chr17	TogoVar
GLT1D1_chr12_128848478_128989968	128879378	T T	TTCTTTCT others(92): Show TTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0145 a0003c0005t0004g0145	1	116	0.0086	99	c.217 others(116): Show c.217+3317_217+3318insCTTTCTTTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128879378	T T	TTCTTTCT others(92): Show TTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0004 a0010c0011t0004	a0010c0011t0004g0139 a0010c0011t0004g0139	1	116	0.0086	99	c.217 others(116): Show c.217+3317_217+3318insCTTTCTTTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTTCTTTCT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128879387	T T	TTTCCTTC others(92): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0316 a0003c0005t0004g0316	1	318	0.0031	99	c.217 others(116): Show c.217+3328_217+3329insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTTCTTCTTC		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GMEB2_chr20_63582605_63632101	63607164	T T	TTGACCCA others(92): Show TTGACCCACCTCCATTTCCAGAAACATGCCCCTCTGACCCACCTCCATTT CTAGAAACATGCCCCTCTGACCCACCTCCATTTCTAGAAACATGCCCCTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG02280.hp1 others(13): Show HG01496.hp2 HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03710.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0018 a0001c0004t0019 a0001c0004t0004 a0001c0004t0018 a0001c0004t0019	a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0082 others(13): Show a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0082 a0001c0004t0004g0088 a0001c0004t0004g0089 a0001c0004t0004g0090 a0001c0004t0004g0091 a0001c0004t0004g0092 a0001c0004t0004g0093 a0001c0004t0004g0095 a0001c0004t0004g0096 a0001c0004t0004g0097 a0001c0004t0004g0100 a0001c0004t0004g0101 a0001c0004t0018g0094 a0001c0004t0019g0083	16	328	0.0488	99	c.132 others(116): Show c.132-2423_132-2325dupGAGGGGCATGTTTCTAGAAATGGAGGTG GGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGTCAGAGGGGCATGTT TCTGGAAATGGAGGTGGGTCA		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609211	A A	ACCTCCAT others(92): Show ACCTCCATTTCTAGAAACATGCCCCTCTGACCCACCTCCATTTCTAGAAA CATGCCCCTCTGACCCCACCTCCATTTCTAGAAACATGCCCCTCTGACCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19030.hp1 HG01891.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0011 a0001c0004t0004g0011	2	327	0.0061	99	c.132 others(116): Show c.132-4372_132-4371insGGGTCAGAGGGGCATGTTTCTAGAAATG GAGGTGGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGTCAGAGGG GCATGTTTCTAGAAATGGAGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GOLGA3_chr12_132763914_132833869	132817477	C C	CCACCCTC others(92): Show CCACCCTCCACACCTCCACGCTCTAAGGTGAAGCCCCCCTCCACACCTCC ACACTCTAAGGTGAACCCGCCCTCCACACCTCCACACTCTAAGGTGAACT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0270 a0002c0002t0002g0270	1	306	0.0033	99	c.134 others(114): Show c.134-666_134-665insAGTTCACCTTAGAGTGTGGAGGTGTGGAGG GCGGGTTCACCTTAGAGTGTGGAGGTGTGGAGGGGGGCTTCACCTTAGAG CGTGGAGGTGTGGAGGGTG		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23						chr12	TogoVar
GPATCH2_chr1_217421992_217636090	217524862	G G	GGAGGGAG others(92): Show GGAGGGAGCGGGAGCGGGGAGCGGGAGCGGGAGCGGGAGCGGGAGCGGGA GCGGGAGCGGGAGCGGGAGCGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0164 a0001c0001t0040g0164	1	149	0.0067	99	c.109 others(118): Show c.1099-9974_1099-9973insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCGCTCCCGCTCCCGCTCCCGCTCCCGCTCCCGCTCCCGCTCCCGCTC CCGCTCCCCGCTCCCGCTCCCTC		GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9						chr1	TogoVar
GPR139_chr16_20023239_20078890	20041250	G G	GGAGAGGA others(92): Show GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01169.hp1 HG01496.hp1 others(12): Show HG00280.hp2 HG01169.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG02080.hp1 HG02897.hp1 HG03579.hp2 HG03834.hp1 HG03927.hp2 NA18948.hp1 NA18991.hp1 NA19066.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0002t0001 a0001c0002t0004 a0001c0002t0025 a0001c0002t0026	a0001c0001t0002g0076 a0001c0001t0002g0163 a0001c0001t0006g0189 others(12): Show a0001c0001t0002g0076 a0001c0001t0002g0163 a0001c0001t0006g0189 a0001c0001t0012g0337 a0001c0001t0015g0019 a0001c0001t0015g0087 a0001c0001t0021g0005 a0001c0002t0001g0083 a0001c0002t0001g0145 a0001c0002t0001g0174 a0001c0002t0004g0256 a0001c0002t0004g0265 a0001c0002t0004g0291 a0001c0002t0025g0277 a0001c0002t0026g0357	15	213	0.0704	99	c.128 others(116): Show c.128-8582_128-8581insTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTC		GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1						chr16	TogoVar
GPR139_chr16_20023239_20078890	20041250	G G	GGAGAGGA others(92): Show GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0232 a0001c0001t0019g0232	1	199	0.0050	99	c.128 others(116): Show c.128-8582_128-8581insTCCCCTCCCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTC		GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1						chr16	TogoVar
GPR161_chr1_168074542_168141930	168119275	T T	TATACATA others(92): Show TATACATATATATACACGTATATATATACATATATATGTATACATATATA TACACATATATATATGTGTACATATATATGTAACATATATATATGTATAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0155 a0001c0001t0040g0155	1	249	0.0040	99	c.-44 others(118): Show c.-44-14382_-44-14381insGTATACATATATATATGTTACATATA TATGTACACATATATATATGTGTATATATATGTATACATATATATGTATA TATATACGTGTATATATATGTAT		GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5						chr1	TogoVar
GPR176_chr15_39794008_39925266	39894052	A A	ACCTCCCG others(92): Show ACCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGCCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG01123.hp1 others(1): Show HG00280.hp2 HG00597.hp2 HG01123.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0167 others(1): Show a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0167 a0001c0001t0006g0052	4	94	0.0426	99	c.172 others(118): Show c.172+25802_172+25803insGAGGTGGGGGGGGTCAGCCCCCCGCC CGGCCAGGCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCAACCC GGCCAGCCGCCCCGTCCGGGAGG		GPR176	ENSG00000166073.12	transcript	ENST00000561100.2	protein_coding	1/2						chr15	TogoVar
GPR176_chr15_39794008_39925266	39894052	A A	ACCTCCCG others(92): Show ACCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGCCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	91	0.0110	99	c.172 others(118): Show c.172+25802_172+25803insGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGGCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCAACCC GGCCAGCCGCCCCGTCCGGGAGG		GPR176	ENSG00000166073.12	transcript	ENST00000561100.2	protein_coding	1/2						chr15	TogoVar
GPRIN1_chr5_176590802_176615156	176592583	G G	GCCAACCA others(92): Show GCCAACCATAAGCCAACAAGAGAGGTTTCAAAAGAAACCAACTCTGCCGC CAAGTTGATCTCAGACTTCTAGGCTCCAGAACTGTGAGGAGAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	396	0.0025	99	c.42 others(110): Show c.4224_*4225insTTTTTTTTTCTCCTCACAGTTCTGGAGCCTAGAA GTCTGAGATCAACTTGGCGGCAGAGTTGGTTTCTTTTGAAACCTCTCTTG TTGGCTTATGGTTGG		GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding					3218		chr5	TogoVar
GSE1_chr16_85608322_85681200	85653267	T T	TCCTCTCC others(92): Show TCCTCTCCCCTCCTCCTCTCCCCTCCTCCCCCCTCCTCCTCTCCCCTCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0042 a0002c0005t0042	a0002c0005t0042g0126 a0002c0005t0042g0126	1	266	0.0038	99	c.427 others(116): Show c.427-1007_427-1006insTCCCCTCCTCCTCTCCCCTCCTCCCCCC TCCTCCTCTCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCTCCCCCCTC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP4_chr10_983434_1024932	1015461	T T	TGGACCTG others(92): Show TGGACCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGA GCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0099 a0001c0002t0012g0099	1	39	0.0256	99	c.160 others(116): Show c.1609-290_1609-289insACCTGGGGTCCTGAGCGCTGAGCCTGGG AGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCT GAGCGCTGAGCCTGGGAGCGG		GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1015513	T T	TCTGAGCC others(92): Show TCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGTGG ACCTGGGGTCCTGAGCTCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01169.hp1 HG02080.hp2 others(19): Show HG00621.hp1 HG01169.hp1 HG02080.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02970.hp2 HG03927.hp1 NA18943.hp1 NA18960.hp1 NA18973.hp1 NA18995.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0032 a0002c0003t0008	a0001c0001t0001g0184 a0001c0001t0004g0008 a0001c0001t0004g0016 others(14): Show a0001c0001t0001g0184 a0001c0001t0004g0008 a0001c0001t0004g0016 a0001c0001t0004g0043 a0001c0001t0004g0142 a0001c0001t0004g0182 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0233 a0001c0001t0004g0248 a0001c0001t0019g0016 a0001c0001t0019g0160 a0001c0001t0032g0008 a0002c0003t0008g0088	22	308	0.0714	99	c.160 others(116): Show c.1609-208_1609-207insTCTGAGCCTGGGAGTGGACCTGGGGTCC TGAGCTCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAGCCTGGG AGCGGGGCTGGGGTCCTGAGC		GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1015528	G G	GGGGCTGG others(92): Show GGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGTGGACCTGGGGTCCTGAG CTCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAGCCTGGGAGCA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0169 a0001c0001t0029g0169	1	368	0.0027	99	c.160 others(116): Show c.1609-208_1609-207insTCTGAGCCTGGGAGTGGACCTGGGGTCC TGAGCTCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAGCCTGGG AGCAGGGCTGGGGTCCTGAGC		GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1015560	C C	CGGGGCTG others(92): Show CGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGA GCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0093 a0002c0003t0007g0093	1	321	0.0031	99	c.160 others(116): Show c.1609-128_1609-127insCGGGGCTGGGGTCCTGAGCTCTGAGCCT GGGAGTGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGT CCTGAGCGCTGAGCCTGGGAG		GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP6_chrX_299759_323796	323703	T T	TGTGTGTG others(92): Show TGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCC CTGTTCATAGAGACAGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0003 a0001c0020t0003	a0001c0020t0003g0103 a0001c0020t0003g0103	1	151	0.0066	99	c.-49 others(110): Show c.-4917_-4916insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CTGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACG GCTACACACACACAC		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					4908		chrX	TogoVar
H1-7_chr12_48323980_48335279	48332457	G G	GGGGGGGC others(92): Show GGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	422	0.0024	99	c.23 others(110): Show c.2398_*2399insGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGC		H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding					2179		chr12	TogoVar
H1-7_chr12_48323980_48335279	48332473	T T	TCCACCTC others(92): Show TCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02976.hp1 NA18906.hp1 HG02572.hp1 HG02976.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	251	0.0120	99	c.24 others(110): Show c.2414_*2415insCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCC		H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding					2195		chr12	TogoVar
H1-7_chr12_48323980_48335279	48332499	T T	TGGCCGGG others(92): Show TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	422	0.0024	99	c.24 others(110): Show c.2440_*2441insGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTG		H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding					2221		chr12	TogoVar
HAP1_chr17_41717640_41739643	41730094	A A	AGAGAAAG others(92): Show AGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAG AGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0005 a0010c0010t0005	a0010c0010t0005g0116 a0010c0010t0005g0116	1	258	0.0039	99	c.106 others(118): Show c.1069+1398_1069+1399insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCT CTTTCTCTCTTTCTCTCTTTCTC		HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10						chr17	TogoVar
HBM_chr16_160978_171764	164759	G G	GGCGGGGC others(92): Show GGCGGGGCCGCGGGGCGGGGTCGCGGGGCGGGGCCGCGGGGCGGGGTCGC GGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03041.hp2 HG03139.hp1 others(1): Show HG02486.hp1 HG03041.hp2 HG03139.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	352	0.0114	99	c.-12 others(110): Show c.-1239_-1238insGCGGGGCCGCGGGGCGGGGTCGCGGGGCGGGGCC GCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGG TCGCGGGGCGGGGTC		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					1218		chr16	TogoVar
HCN1_chr5_45249948_45701380	45321497	T T	TTAGCACG others(92): Show TTAGCACGTAGAATTAAACCACAGCTTTATATTTTGCAATAGTGTATATT TCAAAATGAAAAAAAAGAGTCACTTTTAGCATTTTACAGCTTCTTTAATC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp1 NA19240.hp2 HG02615.hp1 HG02886.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0015 a0001c0001t0002g0083 a0001c0001t0016g0014 a0001c0001t0002g0015 a0001c0001t0002g0083 a0001c0001t0016g0014	3	224	0.0134	99	c.137 others(120): Show c.1378-17757_1378-17659dupGATTAAAGAAGCTGTAAAATGCTA AAAGTGACTCTTTTTTTTCATTTTGAAATATACACTATTGCAAAATATAA AGCTGTGGTTTAATTCTACGTGCTA		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	5/7						chr5	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCCTGC others(92): Show TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02451.hp1 HG02717.hp1	a0001 a0001	a0001c0018 a0001c0076 a0001c0018 a0001c0076	a0001c0018t0002 a0001c0076t0001 a0001c0018t0002 a0001c0076t0001	a0001c0018t0002g0055 a0001c0076t0001g0029 a0001c0018t0002g0055 a0001c0076t0001g0029	2	213	0.0094	99	c.633 others(116): Show c.633-1092_633-1091insCTCTCTCCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTC		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCCTGC others(92): Show TCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACCTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	212	0.0047	99	c.633 others(116): Show c.633-1163_633-1162insTCCTCCTCTCTCCTCCTGCGTGGACGCC CCACCTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACT		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(92): Show TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0050 a0001c0046t0001g0050	1	212	0.0047	99	c.633 others(116): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTC		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr19	TogoVar

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