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
FBXL16_chr16_687500_710801	696678	T T	TCCCACCC others(100): Show TCCCACCCCAAAGCCACCATCCGCTCCCACCTCCATAGGGTTGCTGCTGC CCGCCCCTTGCCCCCCAGCCCTGTCCCCCCCACCACCCAGCCTGGGCGCA CACCCCCC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	372	0.0027	107	c.633 others(120): Show c.633+94_633+95insGGGGGGTGTGCGCCCAGGCTGGGTGGTGGGGG GGACAGGGCTGGGGGGCAAGGGGCGGGCAGCAGCAACCCTATGGAGGTGG GAGCGGATGGTGGCTTTGGGGTGGG		FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding	2/5						chr16	TogoVar
FBXO34_chr14_55266421_55358611	55332051	T T	TATATATA others(100): Show TATATATATACCACCGTGGTGTATATATAAAAATATATATATACCACCGT GGTGGTATATATAAAAATATATATATATATATATACCACCGTGGTGGTAT GTATAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp2 HG03471.hp1 others(2): Show HG02559.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp2 NA19240.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0146 a0004c0004t0003g0147 a0004c0004t0003g0148 others(2): Show a0004c0004t0003g0146 a0004c0004t0003g0147 a0004c0004t0003g0148 a0004c0004t0003g0149 a0004c0004t0003g0150	5	334	0.0150	107	c.-10 others(126): Show c.-10-18321_-10-18320insCCACCGTGGTGTATATATAAAAATAT ATATATACCACCGTGGTGGTATATATAAAAATATATATATATATATATAC CACCGTGGTGGTATGTATAAAAATATATATA		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
FGD6_chr12_95071749_95222467	95148880	A A	ATATATAA others(100): Show ATATATAATATAATATATAGCATATATTATATATTATATAATATATAGCA TATATATAATATTATATAATATATATGCTATATATTATATAATATATAAT ATATATGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	384	0.0026	107	c.268 others(126): Show c.2685+3930_2685+3931insGCATATATATTATATATTATATAATA TATAGCATATATATTATATAATATTATATATATGCTATATATTATATAAT ATATAATATATGCTATATATTATATTATATA		FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20						chr12	TogoVar
FGD6_chr12_95071749_95222467	95148910	A A	ATATATTA others(100): Show ATATATTATATAATATATAGCATATATTATATATTATATAATATATAGCA TATATATAATATTATATAATATATATGCTATATATTATATAATATATAAT ATATATGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	384	0.0026	107	c.268 others(126): Show c.2685+3900_2685+3901insGCATATATATTATATATTATATAATA TATAGCATATATATTATATAATATTATATATATGCTATATATTATATAAT ATATAATATATGCTATATATTATATAATATA		FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20						chr12	TogoVar
FGFR4_chr5_177081915_177103144	177097055	T T	TTCCTCCT others(100): Show TTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0032 a0032	a0032c0015 a0032c0015	a0032c0015t0001 a0032c0015t0001	a0032c0015t0001g0164 a0032c0015t0001g0164	1	372	0.0027	107	c.215 others(124): Show c.2154-227_2154-226insCCTCTTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCTCCTCCTCCT		FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(100): Show GAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGA GAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATA TATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	107	c.-40 others(118): Show c.-4014_-4013insAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATAT ATATATATATATATATATATATA		FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding					3971		chr11	TogoVar
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(100): Show GAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGATATATATATATATATATATATATATATATATATA TATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	332	0.0030	107	c.-40 others(118): Show c.-4014_-4013insAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATAT ATATATATATATATATATATATA		FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding					3971		chr11	TogoVar
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(100): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATA TATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	107	c.-40 others(118): Show c.-4014_-4013insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATAT ATATATATATATATATATATATA		FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding					3971		chr11	TogoVar
FLT3_chr13_27998274_28105576	27999113	A A	AATTATAT others(100): Show AATTATATACATATAAATATATATATTTATATACATATAAATTTATATAC ATATAAATATAAATATTTATATACATATAAATTTATATACATATAAATAT AAATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0163 a0001c0004t0006g0163	1	292	0.0034	107	c.49 others(118): Show c.4938_*4939insAAATATTTATATTTATATGTATATAAATTTATAT GTATATAAATATTTATATTTATATGTATATAAATTTATATGTATATAAAT ATATATATTTATATGTATATAAT		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4160		chr13	TogoVar
FMNL1_chr17_45216885_45252318	45217580	C C	CCTTCCTT others(100): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0037 a0010c0013t0001g0037	1	384	0.0026	107	c.-45 others(118): Show c.-4545_-4544insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTT		FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding					4304		chr17	TogoVar
FSHR_chr2_48957157_49159515	49127803	T T	TTCTTCTT others(100): Show TTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCCTCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	350	0.0029	107	c.152 others(126): Show c.152+26462_152+26463insGGAGGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGA AGAAGAAGAAGGAAGAAGAAGAAGAAGAAGA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9						chr2	TogoVar
FSTL3_chr19_671392_688385	674631	A A	ACTCCCCA others(100): Show ACTCCCCAAGCCGGGGAGATTCCCGGGGGAAATGCCAGAGGCCAAGGCCA GGTCGAGACGGCGGGGTGTCCCCCCTCAGTGAGAACACAGGGTCCCGTCC CTGCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02630.hp1 others(1): Show HG02258.hp1 HG02559.hp1 HG02630.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0025 a0001c0002t0011g0065 a0001c0002t0011g0066 others(1): Show a0001c0002t0011g0025 a0001c0002t0011g0065 a0001c0002t0011g0066 a0001c0002t0011g0067	4	434	0.0092	107	c.-17 others(118): Show c.-1793_-1792insCTCCCCAAGCCGGGGAGATTCCCGGGGGAAATGC CAGAGGCCAAGGCCAGGTCGAGACGGCGGGGTGTCCCCCCTCAGTGAGAA CACAGGGTCCCGTCCCTGCCCTG		FSTL3	ENSG00000070404.10	transcript	ENST00000166139.9	protein_coding					1760		chr19	TogoVar
FSTL3_chr19_671392_688385	674716	C C	CACAGGGT others(100): Show CACAGGGTCCCGTCCCTGCCCTGCTCCCCAAGCCGGGGAGATTCCCGGGG GAAATGCCAGAGGCCAAGGCCAGGTCGAGACGGCGGGGTGTCCCCCCTCA GTGAGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	434	0.0023	107	c.-17 others(118): Show c.-1708_-1707insACAGGGTCCCGTCCCTGCCCTGCTCCCCAAGCCG GGGAGATTCCCGGGGGAAATGCCAGAGGCCAAGGCCAGGTCGAGACGGCG GGGTGTCCCCCCTCAGTGAGAAT		FSTL3	ENSG00000070404.10	transcript	ENST00000166139.9	protein_coding					1675		chr19	TogoVar
GALNTL6_chr4_171808404_173046559	172069584	T T	TATATATA others(100): Show TATATATAACACATATATGTTATATATTATATATATAACACATATGTGTT ATATATAACACATATATGTTATATATATAATATATATAACATATATGTTA TATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	40	0.0250	107	c.139 others(128): Show c.139-160065_139-160064insACACATATATGTTATATATTATAT ATATAACACATATGTGTTATATATAACACATATATGTTATATATATAATA TATATAACATATATGTTATATATATAATATATA		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
GDI2_chr10_5760223_5818434	5774259	T T	TAAAACTT others(100): Show TAAAACTTGCCTCAGGGAGGTGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	398	0.0025	107	c.720 others(122): Show c.720-319_720-318insTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCACCTCCCTGAGGCAAGTTTT		GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	6/10						chr10	TogoVar
GFY_chr19_49420388_49433987	49429079	C C	CCCTGGGT others(100): Show CCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCTGGTCTGAGGG AGGAGGGGCGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCGGGGG TCTGGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02572.hp1 others(6): Show HG01109.hp2 HG01891.hp2 HG02572.hp1 HG02622.hp2 HG02896.hp1 HG02897.hp2 HG06807.hp1 NA18522.hp2 NA21309.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0009 a0001c0001 a0010c0009	a0001c0001t0001 a0010c0009t0003 a0001c0001t0001 a0010c0009t0003	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0027 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0027 a0010c0009t0003g0013	9	450	0.0200	107	c.26 others(116): Show c.261_*262insCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACT CCTGGTCTGAGGGAGGAGGGGCGGGGGTCTGGACTCCTGGGTCTGAGGGA GGAGGGGCGGGGGTCTGGACT		GFY	ENSG00000261949.7	transcript	ENST00000610896.3	protein_coding					93		chr19	TogoVar
GGT1_chr22_24598193_24633996	24605580	A A	ATATATTA others(100): Show ATATATTATATAATAATATATAATATGTATTATATATAATAATATATAAT ATGTATTATATATAATATAATATTATATAATGTGTATTATATAATATATA ATGTGTAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0002 a0002c0002t0004g0002	2	426	0.0047	107	c.-42 others(126): Show c.-429+2058_-429+2059insTATATAATAATATATAATATGTATTA TATATAATAATATATAATATGTATTATATATAATATAATATTATATAATG TGTATTATATAATATATAATGTGTATTATAT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GLG1_chr16_74442440_74612114	74540093	T T	TTTTATAT others(100): Show TTTTATATATATATTATATATATATTATATATATTATATATATATATTTT ATATATATATTATATATATATTATATATATTATATATATATATTATATAT ATATATTA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	342	0.0029	107	c.439 others(124): Show c.439-7941_439-7940insTAATATATATATATAATATATATATATA ATATATATAATATATATATAATATATATATAAAATATATATATATAATAT ATATAATATATATATAATATATATATAAA		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLT1D1_chr12_128848478_128989968	128879372	T T	TTTCTCTC others(100): Show TTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	320	0.0031	107	c.217 others(124): Show c.217+3312_217+3313insCTCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GMDS_chr6_1618806_2250605	1999996	T T	TTATATAT others(100): Show TTATATATATATTTTATATATATATTATATATATATAATATATATATATT ATATATATATATTATATATATATTATATATATATTATATATATATAATAT ATATATAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	166	0.0060	107	c.346 others(126): Show c.346-39031_346-39030insTTATATATATATTATATATATATAAT ATATATATAATATATATATAATATATATATATAATATATATATATTATAT ATATATAATATATATATAAAATATATATATA		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10						chr6	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344780	G G	GTCCAGGA others(100): Show GTCCAGGAGCTCCTCCACCTCGTCCAGCAGCCTCTCCCTCTCCCCCTCTC CAGCAGCCTCTCCTGCTCCTCCTGCCGCCTCTCCTGTTCTAACAGCTTCT CCACCTCT	frameshift_variant frameshift_variant	HIGH	NA18522.hp2 NA18522.hp2	a0042 a0042	a0042c0030 a0042c0030	a0042c0030t0047 a0042c0030t0047	a0042c0030t0047g0047 a0042c0030t0047g0047	1	301	0.0033	107	c.107 others(116): Show c.1079_1080insAGAGGTGGAGAAGCTGTTAGAACAGGAGAGGCGGCA GGAGGAGCAGGAGAGGCTGCTGGAGAGGGGGAGAGGGAGAGGCTGCTGGA CGAGGTGGAGGAGCTCCTGGA	p.Asp others(5): Show p.Asp360fs	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1179/4452	1079/1569	360/522			chr15	TogoVar
GP6_chr19_55008705_55043264	55027075	C C	CCCCGCCC others(100): Show CCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCT CTGGCTCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCC ACCTACGG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0112 a0002c0004t0001g0112	1	441	0.0023	107	c.610 others(122): Show c.610+502_610+503insCCGTAGGTGGGAAGGAAGTGGGAGGGCAGG AAGCCCTGGGCTGCAGGGGCGGAGCCAGAGGTGGGAAGGAAGTGGGAGGG CAGGAAGCCCTGGGCTGCAGGGGCGGG		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	4/7						chr19	TogoVar
GPR137B_chr1_236137539_236213907	236186277	A A	AATATCTA others(100): Show AATATCTATAATATATAATATAAATAATATATAATATATATTATATATTA TATATAATATATATAATATATAATATATATTATATATTATATATAATATA TATAATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG03831.hp1 HG00280.hp1 HG01069.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0008g0136 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0008g0136	3	386	0.0078	107	c.966 others(124): Show c.966+2374_966+2375insTCTATAATATATAATATAAATAATATAT AATATATATTATATATTATATATAATATATATAATATATAATATATATTA TATATTATATATAATATATATAATATATA		GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
GRIN2A_chr16_9748408_10187428	9902085	C C	CAAGGCGT others(100): Show CAAGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA ATGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0149 a0001c0003t0009g0149	1	168	0.0060	107	c.100 others(128): Show c.1008-10986_1008-10985insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCATTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCAGGTTCACGCCTT		GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	3/12						chr16	TogoVar
GTF2H5_chr6_158163350_158204344	158169637	A A	ATATAATG others(100): Show ATATAATGTATATTATATAATATATTGTATATTATATAATGTATATTATA TAATATATTGTATATTATATAATATATTGTATATTGTATAATATATTGTA TATTGTAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0051 a0001c0001t0012g0051	1	384	0.0026	107	c.-34 others(122): Show c.-34-833_-34-832insTATAATGTATATTATATAATATATTGTATA TTATATAATGTATATTATATAATATATTGTATATTATATAATATATTGTA TATTGTATAATATATTGTATATTGTAT		GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2						chr6	TogoVar
GTPBP6_chrX_299759_323796	323687	T T	TGTGTGTG others(100): Show TGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTC CGTCTGCCCTGTTCATAGAGACGGAATGAGGGCGTCCCCAGGTGGTGAGC TCAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0145 a0001c0003t0003g0145	1	155	0.0065	107	c.-49 others(118): Show c.-4901_-4900insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CCGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACG GCTACACACACACACACACACAC		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					4892		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106709678	T T	TTAGTTAT others(100): Show TTAGTTATATACACGTATAGAATATATAGTTAGTTATATACACGTATAGA ATATATAGTTATATACACGTATAGAATATATAGTTATATATTATATACAC GTATAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01255.hp2 HG01433.hp2 others(2): Show HG00099.hp1 HG01255.hp2 HG01433.hp2 HG02280.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0006 a0001c0004t0006 a0001c0001t0005 a0001c0001t0006 a0001c0004t0006	a0001c0001t0005g0120 a0001c0001t0006g0150 a0001c0001t0006g0153 others(2): Show a0001c0001t0005g0120 a0001c0001t0006g0150 a0001c0001t0006g0153 a0001c0004t0006g0220 a0001c0004t0006g0226	5	256	0.0195	107	c.183 others(126): Show c.1837-1013_1837-1012insTTCTATACGTGTATATAATATATAAC TATATATTCTATACGTGTATATAACTATATATTCTATACGTGTATATAAC TAACTATATATTCTATACGTGTATATAACTA		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7						chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106709759	G G	GTTATATA others(100): Show GTTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00544.hp1 others(14): Show HG00140.hp2 HG00408.hp1 HG00544.hp1 HG00639.hp1 HG01358.hp1 HG01496.hp2 HG02738.hp1 HG02738.hp2 HG03239.hp1 HG04115.hp2 NA18747.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA19010.hp1 NA19064.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0002c0009	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0002t0061 a0001c0004t0005 a0001c0004t0058 a0001c0006t0005 a0001c0007t0005 a0002c0009t0005	a0001c0001t0002g0103 a0001c0001t0002g0134 a0001c0001t0005g0028 others(14): Show a0001c0001t0002g0103 a0001c0001t0002g0134 a0001c0001t0005g0028 a0001c0001t0005g0102 a0001c0001t0005g0155 a0001c0001t0005g0166 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0061g0193 a0001c0004t0005g0227 a0001c0004t0058g0217 a0001c0006t0005g0203 a0001c0006t0005g0210 a0001c0006t0005g0213 a0001c0007t0005g0019 a0001c0007t0005g0026 a0002c0009t0005g0002	17	256	0.0664	107	c.183 others(126): Show c.1837-1094_1837-1093insTATATAACTATATATTCTATACGTGT ATATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGT ATATAACTATATATTCTATACGTGTATATAA		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7						chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106709791	A A	ATTATATA others(100): Show ATTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATACACGTATAGAATATATAGTTATATATTATATACACGTATAGA ATATATAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG04115.hp1 HG00735.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0006 a0001c0001t0006 a0001c0004t0006	a0001c0001t0006g0152 a0001c0004t0006g0199 a0001c0001t0006g0152 a0001c0004t0006g0199	2	256	0.0078	107	c.183 others(126): Show c.1837-1126_1837-1125insCTATATATTCTATACGTGTATATAAT ATATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGT ATATAACTATATATTCTATACGTGTATATAA		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7						chr11	TogoVar
GZMM_chr19_539053_554922	550576	C C	CCCGAAAA others(100): Show CCCGAAAACAGGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCC CGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCC CCAGCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0001 a0017c0018t0001	a0017c0018t0001g0230 a0017c0018t0001g0230	1	398	0.0025	107	c.78 others(116): Show c.785_*786insCCGAAAACAGGGCCCGTCCCCAGTCACCCCAGCACC CCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCG TCCCCAGTCACCCCCAGCACT		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					655		chr19	TogoVar
HAP1_chr17_41717640_41739643	41730094	A A	AGAGAAAG others(100): Show AGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAG AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0014 a0005c0005t0014	a0005c0005t0014g0117 a0005c0005t0014g0117	1	374	0.0027	107	c.106 others(126): Show c.1069+1398_1069+1399insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTCTCTTTCTCT CTTTCTCTCTTTCTCTCTTTCTCTCTTTCTC		HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10						chr17	TogoVar
HBQ1_chr16_175459_186179	186170	G G	GGAGGAAC others(100): Show GGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	384	0.0026	107	c.50 others(118): Show c.5062_*5063insGAGGAACAGCGACACGGAGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGA		HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding					4992		chr16	TogoVar
HCN1_chr5_45249948_45701380	45376245	C C	CTATATGG others(100): Show CTATATGGAATATAGAATATATATTCCATATAGAATATAGAATATATATT CTATATTACATATAGAATATAGAATATATATTCTATATAGAATATATATT CTATATAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19030.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0033 a0001c0001t0017 a0001c0001t0033	a0001c0001t0017g0081 a0001c0001t0033g0213 a0001c0001t0017g0081 a0001c0001t0033g0213	2	226	0.0089	107	c.123 others(128): Show c.1230+20246_1230+20247insTTATATAGAATATATATTCTATAT AGAATATATATTCTATATTCTATATGTAATATAGAATATATATTCTATAT TCTATATGGAATATATATTCTATATTCCATATA		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HCN1_chr5_45249948_45701380	45376245	C C	CTATATGG others(100): Show CTATATGGAATATAGAATATATATTCTATATAGAATATAGAATATATATT CTATATGTAATATAGAATATAGAATATATATTCTATATAGAATATATATT CTATATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp1 others(27): Show HG00099.hp2 HG00323.hp2 HG00558.hp1 HG01071.hp1 HG01081.hp1 HG01257.hp2 HG01361.hp1 HG01934.hp2 HG01978.hp2 HG02056.hp2 HG02129.hp2 HG02132.hp1 HG02559.hp2 HG02647.hp1 HG03225.hp1 HG03486.hp1 HG03831.hp1 HG04204.hp1 NA18942.hp2 NA18945.hp2 NA18980.hp2 NA18994.hp2 NA19003.hp1 NA19011.hp2 NA19057.hp2 NA19064.hp1 NA19070.hp1 NA19072.hp2 NA19088.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0036 a0001c0001t0037	a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0157 others(27): Show a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0157 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0113 a0001c0001t0003g0188 a0001c0001t0003g0215 a0001c0001t0005g0089 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0012g0064 a0001c0001t0012g0137 a0001c0001t0036g0186 a0001c0001t0037g0148	30	226	0.1327	107	c.123 others(128): Show c.1230+20246_1230+20247insTTATATAGAATATATATTCTATAT AGAATATATATTCTATATTCTATATTACATATAGAATATATATTCTATAT TCTATATAGAATATATATTCTATATTCCATATA		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HCN1_chr5_45249948_45701380	45376245	C C	CTATATGG others(100): Show CTATATGGAATATAGAATATATATTCTATATAGAATATAGAATATATATT CTATATTACATATAGAATATAGAATATATATTCTATATAGAATATATATT CTATATAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02451.hp2 HG01975.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0095 a0001c0001t0019g0114 a0001c0001t0003g0095 a0001c0001t0019g0114	2	226	0.0089	107	c.123 others(128): Show c.1230+20246_1230+20247insTTATATAGAATATATATTCTATAT AGAATATATATTCTATATTCTATATGTAATATAGAATATATATTCTATAT TCTATATAGAATATATATTCTATATTCCATATA		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HCN1_chr5_45249948_45701380	45376245	C C	CTATATGG others(100): Show CTATATGGAATATAGAATATATATTCTATATAGAATATATAATATATATT CTATATGTAATATAGAATATAGAATATATATTCTATATAGAATATATATT CTATATAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG06807.hp2 HG02145.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0105 a0001c0001t0002g0106	2	226	0.0089	107	c.123 others(128): Show c.1230+20246_1230+20247insTTATATAGAATATATATTCTATAT AGAATATATATTCTATATTCTATATTACATATAGAATATATATTATATAT TCTATATAGAATATATATTCTATATTCCATATA		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(100): Show AGAATATAGAATATATATTCTATATAGAATATAGAATATATATTCTATAT TACATATAGAATATAGAATATATATTCTATATAGAATATATATTCTATAT AATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0035 a0003c0003t0035	a0003c0003t0035g0220 a0003c0003t0035g0220	1	226	0.0044	107	c.123 others(128): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATGTAATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTC		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(100): Show AGAATATAGAATATATATTCTATATAGAATATAGAATATATATTCTATAT TCCATATAGAATATAGAATATATATTCTATATAGAATATATATTCTATAT AATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp2 others(85): Show HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18949.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18971.hp1 NA18977.hp2 NA18982.hp2 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA19000.hp1 NA19001.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19064.hp2 NA19070.hp2 NA19072.hp1 NA19078.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0001t0034 a0001c0001t0038 a0001c0001t0040 a0001c0006t0002 a0002c0002t0008 a0005c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0045 others(85): Show a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0002g0088 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0165 a0001c0001t0002g0178 a0001c0001t0002g0194 a0001c0001t0003g0063 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0158 a0001c0001t0003g0183 a0001c0001t0006g0143 a0001c0001t0006g0203 a0001c0001t0007g0100 a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0001t0011g0163 a0001c0001t0011g0164 a0001c0001t0015g0001 a0001c0001t0021g0138 a0001c0001t0025g0217 a0001c0001t0028g0174 a0001c0001t0034g0172 a0001c0001t0038g0016 a0001c0001t0040g0175 a0001c0006t0002g0199 a0002c0002t0008g0224 a0002c0002t0008g0225 a0002c0002t0008g0226 a0005c0005t0001g0179	88	226	0.3894	107	c.123 others(128): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATGGAATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTC		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(100): Show AGAATATAGAATATATATTCTATATAGAATATAGAATATATATTCTATAT TCCATATAGAATATAGAATATATATTCTATATAGAATATATATTCTATAT TCTATATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	226	0.0044	107	c.123 others(128): Show c.1230+20240_1230+20241insCATATAGAATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATGGAATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTC		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(100): Show AGAATATAGAATATATATTCTATATAGAATATAGAATATATATTCTATAT TCCATATATTATATAGAATATATATTCTATATAGAATATATATTCTATAT TCTATATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	226	0.0044	107	c.123 others(128): Show c.1230+20240_1230+20241insCATATAGAATATAGAATATATATT CTATATAGAATATATATTCTATATAATATATGGAATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTC		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HGFAC_chr4_3436968_3454486	3440813	C C	CCCCCATT others(100): Show CCCCCATTCATCGTGCCCCCAGGGCCCACCATGACCTCCCCCCCAACCCC CAACCCCCCATTCACCGTGCCCCAGGGCCCACCATGACCTCCCCCCCAAC CCCCAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(13): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00733.hp1 HG01168.hp2 HG01255.hp1 HG01346.hp2 HG01433.hp1 HG02293.hp1 HG02683.hp1 HG03017.hp2 HG03710.hp2 HG03831.hp2 HG06807.hp1 NA20805.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0001c0016 a0003c0003 others(1): Show a0001c0001 a0001c0016 a0003c0003 a0013c0049	a0001c0001t0001 a0001c0016t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0016t0001 a0003c0003t0001 a0013c0049t0001	a0001c0001t0001g0010 a0001c0016t0001g0027 a0001c0016t0001g0080 others(2): Show a0001c0001t0001g0010 a0001c0016t0001g0027 a0001c0016t0001g0080 a0003c0003t0001g0082 a0013c0049t0001g0081	16	454	0.0352	107	c.-11 others(118): Show c.-1189_-1188insCCCCATTCATCGTGCCCCCAGGGCCCACCATGAC CTCCCCCCCAACCCCCAACCCCCCATTCACCGTGCCCCAGGGCCCACCAT GACCTCCCCCCCAACCCCCAACT		HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding					1154		chr4	TogoVar
HIGD1C_chr12_50947544_50975607	50948889	G G	GGGGAGGG others(100): Show GGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGGG GAGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	380	0.0026	107	c.-38 others(118): Show c.-3890_-3889insGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGGAGGGGGGGGAGGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3654		chr12	TogoVar
HRH3_chr20_62209960_62225278	62213494	G G	GGGATGGG others(100): Show GGGATGGGGGAAGGGAGAGCAGGGATGGGGGGGAAGGAGAGTGGGGATGG GTGGGGGAAGGAGAGCGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGG GAGAGCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	368	0.0027	107	c.25 others(118): Show c.2511_*2512insTTGCTCTCCCTTCCCCCATCCCCGCTCTCCCTCC CCCATCCCGCTCTCCTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCAT CCCTGCTCTCCCTTCCCCCATCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1465		chr20	TogoVar
HSF1_chr8_144286604_144319720	144313723	G G	GCCTCCCC others(100): Show GCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCGCCTCC CCGCCCCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCTCCCCG CACCGCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03579.hp2 HG02622.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0152 a0001c0001t0001g0153	2	330	0.0061	107	c.124 others(124): Show c.1248+109_1248+110insTCCCCGCCCCGCCTCCCCGCCTCCCCGC CCCGCCTCCCCGCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCACCGCC TCCCCGCACCGCCTCCCCGCACCGCCTCC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33323445	G G	GAATATAT others(100): Show GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03209.hp1 HG02647.hp2 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0033 a0002c0004t0002g0247 a0002c0004t0002g0033 a0002c0004t0002g0247	2	323	0.0062	107	c.-16 others(118): Show c.-1611_-1610insAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAA		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1524		chr21	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATT others(100): Show AATATATTATATATTATATATTATATATTATATATAATATATATTATATA TTATATATAATATATAATTTATAATATATTATATATAATATATAATTTAT AATATATT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03942.hp1 HG04115.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0026 a0002c0003t0003g0057 a0002c0003t0003g0026 a0002c0003t0003g0057	3	390	0.0077	107	c.862 others(122): Show c.862-890_862-889insAATATATTATAAATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATATTATATATA ATATATAATATATAATATATAATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFT80_chr3_160251986_160404225	160312944	A A	AATATATA others(100): Show AATATATATTATATATAAATATATAATATATATAATAAATATATATTATA TATAAATATATAATATATATAATAAATATATATTATATATAAATATATAA TATATAAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG02723.hp2 others(5): Show HG02486.hp2 HG02647.hp2 HG02723.hp2 HG02886.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0002c0002t0001g0033 a0002c0002t0002g0003 a0002c0002t0002g0032 others(4): Show a0002c0002t0001g0033 a0002c0002t0002g0003 a0002c0002t0002g0032 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0003g0038	8	212	0.0377	107	c.958 others(124): Show c.958-5164_958-5163insATTATATATTATATATTTATATATAATA TATATTTATTATATATATTATATATTTATATATAATATATATTTATTATA TATATTATATATTTATATATAATATATAT		IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	9/19						chr3	TogoVar
IGFN1_chr1_201185824_201233952	201209798	G G	GGCAGGTT others(100): Show GGCAGGTTATAGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAG TAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAG TGAATGAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19001.hp1 NA19001.hp1	a0087 a0087	a0087c0082 a0087c0082	a0087c0082t0003 a0087c0082t0003	a0087c0082t0003g0229 a0087c0082t0003g0229	1	428	0.0023	107	c.491 others(116): Show c.4916_4917insAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGG AGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTC AGTGAATGAAGCAGGTTATAG	p.Lys others(6): Show p.Lys1640fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	5048/11811	4917/11127	1639/3708		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL18R1_chr2_102350796_102403776	102352893	A A	AATATTAT others(100): Show AATATTATATATAATATTATATATTTTATATATAATATTATATATAATAT TATATATTTTATATATAATATATATTATATAATATTATATATATTATACA TTACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp1 others(97): Show HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01192.hp1 HG01346.hp2 HG01361.hp1 HG01884.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp2 HG02630.hp1 HG02735.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp1 NA19084.hp1 NA19089.hp2 NA19240.hp1 NA20752.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0007c0008 others(1): Show a0001c0001 a0001c0002 a0007c0008 a0008c0010	a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 others(12): Show a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0030 a0001c0002t0033 a0001c0002t0034 a0001c0002t0036 a0001c0002t0037 a0007c0008t0002 a0008c0010t0002	a0001c0001t0009g0026 a0001c0002t0002g0001 a0001c0002t0002g0004 others(66): Show a0001c0001t0009g0026 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0097 a0001c0002t0002g0100 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0109 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0004g0001 a0001c0002t0004g0011 a0001c0002t0004g0033 a0001c0002t0004g0099 a0001c0002t0004g0105 a0001c0002t0004g0111 a0001c0002t0004g0115 a0001c0002t0004g0117 a0001c0002t0004g0118 a0001c0002t0004g0123 a0001c0002t0004g0124 a0001c0002t0004g0134 a0001c0002t0004g0140 a0001c0002t0004g0151 a0001c0002t0004g0152 a0001c0002t0021g0101 a0001c0002t0021g0125 a0001c0002t0022g0133 a0001c0002t0022g0139 a0001c0002t0023g0033 a0001c0002t0023g0119 a0001c0002t0024g0107 a0001c0002t0024g0108 a0001c0002t0025g0011 a0001c0002t0030g0110 a0001c0002t0033g0001 a0001c0002t0034g0004 a0001c0002t0036g0136 a0001c0002t0037g0001 a0007c0008t0002g0113 a0008c0010t0002g0004	100	366	0.2732	107	c.-35 others(118): Show c.-3536_-3535insATATTATATATAATATTATATATTTTATATATAA TATTATATATAATATTATATATTTTATATATAATATATATTATATAATAT TATATATATTATACATTACATAT		IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding					2902		chr2	TogoVar
IL18R1_chr2_102350796_102403776	102352893	A A	AATATTAT others(100): Show AATATTATATATAATATTATATATTTTATATATAATATTATATATAATAT TATATATTTTATATATAATATATATTATATAATATTATATATTTTATACA TTACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19081.hp1 NA19000.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0132 a0001c0002t0002g0128 a0001c0002t0002g0132	2	366	0.0055	107	c.-35 others(118): Show c.-3536_-3535insATATTATATATAATATTATATATTTTATATATAA TATTATATATAATATTATATATTTTATATATAATATATATTATATAATAT TATATATTTTATACATTACATAT		IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding					2902		chr2	TogoVar

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