Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DIP2C_chr10_269201_694668	478238	G G	GGAGGGGA others(229): Show GGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGG GGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGA AGAAGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0037	1	88	0.0114	236	c.158 others(253): Show c.158-5690_158-5689insTTCTCCCCTCCCCTCCCCTCCCCTCCCT TCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCCTCTCCC CTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCC TTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTT CTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGGAGAG others(229): Show GGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGAGGCGAGGGGA GAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGA GGGGAGGGGAGGGGGAGAAGAAGGGAGAAGAAGGGAAGGGAGGGGAGGGG AGGGGAGGGGAGGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAGAGGGGCG GGGCGGGGCAGGGCGGGGCAGGGAGGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	88	0.0114	236	c.158 others(253): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCT GCCCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTC CCCTCCCCTCCCCTCCCCTCCCTTCCCTTCTTCTCCCTTCTTCTCCCCCT CCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCTTCTTCTCCCCTCGCCTCCTCTCCCCTCCCTTCTTCTCCCCTCCCCT CCTCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1255449	A A	ATGTGTGT others(229): Show ATGTGTGTCCTCTCTTGCCTGGGTGCTGTGTGTGTGTGTCCTCATCTTGC CCGGGCGCTGTGTGTGTGTCATCTCCTGCCTGGGAGCTGTGTGTCTGTCC TCTCCTGCCTGGGAGCTGTGTGTGTGTCCTTTCCTGCCTGAGCACTGTAT GTGTGTCCTCTCTTGCCTGGGTGCTGTGTGTGTGTCCTCTCCTGCCTGGG TGCTGTGTGTGTGTCCTCATCCTGCCCGAGCACTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	236	c.74- others(251): Show c.74-3218_74-3217insCCTCTCCTGCCTGGGTGCTGTGTGTGTGTC CTCATCCTGCCCGAGCACTGTGTGTGTGTCCTCTCTTGCCTGGGTGCTGT GTGTGTGTGTCCTCATCTTGCCCGGGCGCTGTGTGTGTGTCATCTCCTGC CTGGGAGCTGTGTGTCTGTCCTCTCCTGCCTGGGAGCTGTGTGTGTGTCC TTTCCTGCCTGAGCACTGTATGTGTGTCCTCTCTTGCCTGGGTGCTGTGT GTGTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI7_chr12_25103289_25200160	25106528	T T	TCAGACTC others(229): Show TCAGACTCTGTCTCTTAAATATATATATATTATATATACATGTATTTATA TATATGCACACATATAAAATATATATTAAATATGTGCACATATATAAAAT ATGTGTATTATTAAATATGTATTATATAAATACATAATATATGCATAATA TATGTGTATATAATCTATAAATATGTGTATATATAATATATATTTTTAAT ATGTGTATATATAATATATATTTTTTTAAGAGACAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01192.hp2 HG01106.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0092 a0001c0001t0001g0093	2	336	0.0060	236	c.20 others(247): Show c.2019_*2020insTCTGTCTCTTAAAAAAATATATATTATATATACA CATATTAAAAATATATATTATATATACACATATTTATAGATTATATACAC ATATATTATGCATATATTATGTATTTATATAATACATATTTAATAATACA CATATTTTATATATGTGCACATATTTAATATATATTTTATATGTGTGCAT ATATATAAATACATGTATATATAATATATATATATTTAAGAGACAGAGTC TG	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding		1760		chr12	TogoVar
DNAI7_chr12_25103289_25200160	25106550	G G	GTACAGTA others(229): Show GTACAGTAGTGCAACCATAGCTCACTACAGCCTCCAACTCCAGGGCTCAA GCAATCCCTGGAGTCCTGAGATCCTTGGGAGGAATCCCCTTTCTTGGCCT CCCAAAGTGCTGAGATTAAAGTGTTTAATAAAGTATGGTTAAACATGCAC ACACACACACATATATAGTTTTGGAAACAATCTGCCTCCCACCCTTTGTA ACTATTAGGATTAAAGAAATGCATATACATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(66): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01192.hp2 HG01943.hp2 HG02004.hp2 HG02135.hp1 HG02155.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02630.hp2 HG02683.hp2 HG02735.hp1 HG02976.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18972.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19012.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19072.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19085.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 others(66): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0015 a0001c0005t0001g0064 a0001c0005t0001g0144	69	336	0.2054	236	c.19 others(247): Show c.1997_*1998insTATATATATGTATATGCATTTCTTTAATCCTAAT AGTTACAAAGGGTGGGAGGCAGATTGTTTCCAAAACTATATATGTGTGTG TGTGTGCATGTTTAACCATACTTTATTAAACACTTTAATCTCAGCACTTT GGGAGGCCAAGAAAGGGGATTCCTCCCAAGGATCTCAGGACTCCAGGGAT TGCTTGAGCCCTGGAGTTGGAGGCTGTAGTGAGCTATGGTTGCACTACTG TA	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding		1738		chr12	TogoVar
DPH7_chr9_137549444_137583925	137566014	A A	ACTCTGTC others(229): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCTG GGTGACTCTGTCCGTGAGGAAGCTCCCCTGGGTGACT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02630.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0028 a0001c0001t0003g0029	2	340	0.0059	236	c.641 others(251): Show c.641-861_641-860insAGTCACCCAGGGGAGCTTCCTCACGGACAG AGTCACCCAGGGGAGCTTCCTCACGGACAGAGTCACCCAGGGGAGCTTCC TCACAGACAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGA GCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTC ACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTCACAG ACAGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566960	T T	TCTGTCCG others(229): Show TCTGTCCGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	340	0.0029	236	c.641 others(253): Show c.641-1807_641-1806insTCACCCCGGGGAGCTTCCTCACAGACAG AGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCC TCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCCG GGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCCTCACAGACAG TCACCCAGGGGAGCTTCCTCACGGACAGAGTCACCCAGGGGAGCTTCCTC ACGGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716082	G G	GTGGTGGG others(229): Show GTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	170	0.0059	236	c.86- others(249): Show c.86-524_86-523insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(229): Show CGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAACGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0123 a0001c0004t0001g0123	1	288	0.0035	236	c.190 others(255): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(229): Show CGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAATGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp2 NA19240.hp2 HG02922.hp1 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0245	3	288	0.0104	236	c.190 others(255): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAACCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(229): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGT AAAGGTTTATTTCCAGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0266 a0001c0004t0005g0266	1	288	0.0035	236	c.190 others(255): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCAGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(229): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGT AAAGGTTTATTTCCAGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0015	1	288	0.0035	236	c.190 others(255): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCAGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(229): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGT AAAGGTTTATTTCCAGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02970.hp2 others(6): Show HG02622.hp1 HG02886.hp2 HG02970.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0004t0005 a0001c0003t0001 a0001c0004t0001 a0001c0004t0005	a0001c0003t0001g0080 a0001c0003t0001g0220 a0001c0003t0001g0221 others(6): Show a0001c0003t0001g0080 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0259 a0001c0003t0001g0272 a0001c0003t0001g0283 a0001c0004t0001g0009 a0001c0004t0001g0143 a0001c0004t0005g0249	9	288	0.0313	236	c.190 others(255): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCAGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(229): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0269 a0001c0003t0001g0269	1	288	0.0035	236	c.190 others(255): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(229): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0130 a0003c0002t0001g0130	1	288	0.0035	236	c.190 others(255): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(229): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAATGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0077 a0001c0005t0008g0077	1	288	0.0035	236	c.190 others(255): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(229): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAATGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	288	0.0035	236	c.190 others(255): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAT GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(229): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAATGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG01258.hp2 others(2): Show HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01515.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0001 a0001c0013t0001 a0001c0003t0001 a0001c0013t0001	a0001c0003t0001g0001 a0001c0003t0001g0007 a0001c0003t0001g0120 others(1): Show a0001c0003t0001g0001 a0001c0003t0001g0007 a0001c0003t0001g0120 a0001c0013t0001g0126	5	288	0.0174	236	c.190 others(255): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAT GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
ENTR1_chr9_136396922_136415614	136403298	A A	AGGGAGCA others(229): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAGAAAGGGACAGGGTCCCAG GGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGA GCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGAGCA AGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGG GGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	412	0.0024	236	c.120 others(253): Show c.1209-412_1209-411insAGGAACCCTGTCCCTTTCTTCCCCGGCA AACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAAC CCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCC ACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACC CCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCCGGCAAACCCCACCCC TTGCTCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ERC1_chr12_986223_1500931	1122523	A A	ATCTCTAT others(229): Show ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTATCT CTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTCTATCTGTGTCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTCT ATCTGTTTCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	162	0.0062	236	c.156 others(255): Show c.1569+6535_1569+6536insATCTCTATCTCTATCTCTATCTCTAT CTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCT CTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCT ATCTATCTCTATCTCTATCTCTATCTCTATCTGTTTCTCTATCTCTATCT CTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTGTGTCTCTATCTCT ATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERFL_chr19_41902704_41933449	41914817	C C	CATCTCTG others(229): Show CATCTCTGTCTCTCCCTCCCCTCCATCATCTCCGTCTCTGTCTCTCCCTC CCCCTCCACCATCTCCGTCTCTGTCTCTCCCTCCTCTTCCACTATCTCTG TCTCTGTCTCTCCCTCCCCCTCCACCATCTCCGTCTCTGTCTCTCCCTCC TCTTCCACTATCTCTGTCTCTGTCTCTCCCTCCCCCTCCACCATCTCCGT CTCTGTCTCTCCCTCCTCTTCCACTATCTCTGTCTCT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	330	0.0030	236	c.-13 others(253): Show c.-13-1886_-13-1885insAGAGACAGAGATAGTGGAAGAGGAGGGA GAGACAGAGACGGAGATGGTGGAGGGGGAGGGAGAGACAGAGACAGAGAT AGTGGAAGAGGAGGGAGAGACAGAGACGGAGATGGTGGAGGGGGAGGGAG AGACAGAGACAGAGATAGTGGAAGAGGAGGGAGAGACAGAGACGGAGATG GTGGAGGGGGAGGGAGAGACAGAGACGGAGATGATGGAGGGGAGGGAGAG ACAGAGAT	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
EXD3_chr9_137301896_137428162	137328596	A A	ACGGGAGC others(229): Show ACGGGAGCTACACGGGACTACGCGGGACTACGCGGGACTACGCGGGACTA CACGGGACTACACGGGAGCTACACGGGAGCTACACGGGAGCTACGCGGGA CTACGCGGGACTACGCGGGACTACGCGGGACTACACGGGACTACACGGGA GCTACACGGGACTACGCGGGACTACGCGGGACTACGCGGGACTACGCGGG ACTACGCGGGAGCTACACGGGACTACGCGGGACTACG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0025 a0025	a0025c0024 a0025c0024	a0025c0024t0001 a0025c0024t0001	a0025c0024t0001g0049 a0025c0024t0001g0049	1	82	0.0122	236	c.199 others(255): Show c.1999-4454_1999-4453insCGTAGTCCCGCGTAGTCCCGTGTAGC TCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAG TCCCGTGTAGCTCCCGTGTAGTCCCGTGTAGTCCCGCGTAGTCCCGCGTA GTCCCGCGTAGTCCCGCGTAGCTCCCGTGTAGCTCCCGTGTAGCTCCCGT GTAGTCCCGTGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCCCGT GTAGCTCCCG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FHIT_chr3_59742277_61256452	60860431	T T	TCATATGT others(229): Show TCATATGTATACATGACATACATCATATGTATACATGACATACATCATAT GTATACATGACATACATCATATGTATACATGACATACATCATATGTATAC ATGACATACATCATATGTATACATGACATACATCATATGTATACATGACA TACATCATATGTATACATGACATACATCATATGTATACATGACATACATC ATATGTATACATGACATACATCATATGTATACATGAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	46	0.0217	236	c.-11 others(257): Show c.-110-38421_-110-38420insGTCATGTATACATATGATGTATGT CATGTATACATATGATGTATGTCATGTATACATATGATGTATGTCATGTA TACATATGATGTATGTCATGTATACATATGATGTATGTCATGTATACATA TGATGTATGTCATGTATACATATGATGTATGTCATGTATACATATGATGT ATGTCATGTATACATATGATGTATGTCATGTATACATATGATGTATGTCA TGTATACATATG	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FIRRM_chr1_169790040_169859080	169811811	G G	GATTATCT others(229): Show GATTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGA TTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATT ATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02135.hp2 NA18954.hp2 others(8): Show HG01943.hp1 HG02135.hp2 NA18954.hp2 NA18967.hp2 NA18972.hp2 NA18990.hp2 NA18991.hp2 NA19003.hp1 NA19005.hp1 NA19030.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0235 a0001c0001t0004g0239 a0001c0001t0004g0246 others(8): Show a0001c0001t0004g0235 a0001c0001t0004g0239 a0001c0001t0004g0246 a0001c0001t0004g0250 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0282 a0001c0001t0004g0287	11	420	0.0262	236	c.702 others(253): Show c.702+3883_702+3884insTTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTAT CTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCT AAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAA ATAGATAA	FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
FLT4_chr5_180596506_180654600	180615445	C C	CACCGGTC others(229): Show CACCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGGCCCGCCG GTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGG CCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCC GGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCA CCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG02572.hp2 HG03130.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0007 a0014c0020t0013 a0014c0020t0007 a0014c0020t0013	a0014c0020t0007g0170 a0014c0020t0013g0271 a0014c0020t0007g0170 a0014c0020t0013g0271	2	388	0.0052	236	c.321 others(253): Show c.3219+921_3219+922insAGGCCCCAGTGCTCCAAAAGGAAGTGGA GAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGG GAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTG ACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGATTTCGGAAGTGGAGAAG GGAGGTGACCGGCGGGCCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGG TGACCGGT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180635151	A A	AGTATGGG others(229): Show AGTATGGGTGGATGGGTGGGTGGGTGGGTGGGTGGATGGATGCATGGATG GAAGTATGGGTGGGTGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGA TGGGTGGGTGGATGGATGGATGGATGGAAGTATGGGTGGAGGGGTGGGTG GATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGG TGGGTGGATGGATGCATGGATGGAAGTATGGGTGGGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	388	0.0026	236	c.59- others(251): Show c.59-3374_59-3373insACCCACCCATACTTCCATCCATGCATCCAT CCACCCACCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATGC ATCCATCCACCCACCCCTCCACCCATACTTCCATCCATCCATCCATCCAC CCACCCATCCACCCATACTTCCATCCATCCATCCACCCACCCACCCACCC ATACTTCCATCCATGCATCCATCCACCCACCCACCCACCCACCCATCCAC CCATAC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(229): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGG GGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGG GAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGGCGGCGGGGAGGGGATGG GGGCGGGGGGGAGGGGATGGGCGGGGGGGGAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0024 a0001c0004t0001g0024	1	364	0.0028	236	c.-20 others(245): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCG CGGGGTGGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGG AGGGGCGGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGGCGGC GGGGAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGGAGGGGAG	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(229): Show CGGGGGGCGGGGGGAGGAGAGGGGGGGAGAGGGGAGGGGACCGGGTAGGG TGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGG GGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGG GGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGGGAGGGGAT GGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	364	0.0028	236	c.-20 others(245): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGGAGAGGGGAGG GGACCGGGTAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGC GCGGGGTGGGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCG GGAGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGG GGGGGGAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GALR1_chr18_77244848_77282900	77259462	G G	GTGGTGAT others(229): Show GTGGTGATGGTGGCGATTGTGATGGTGATGGTGGTGGTGGTGATGGTGGT GGGTAGTGATGGTGGTGGTGGTCATAGGGGTGGTGGTGATGGTGGTGATG ATGGTGGTCATGGCAGTGATGGTGATGGTGGCGATTGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGGGTAGTGATGGTGGTGGTGGTCATAGGGGTG GTGGTGATGGTGGTGATGATGGTGGTCATGGCAGTGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0082 a0001c0001t0006g0082	1	366	0.0027	236	c.732 others(253): Show c.732+3396_732+3397insTGATGGTGGTGGGTAGTGATGGTGGTGG TGGTCATAGGGGTGGTGGTGATGGTGGTGATGATGGTGGTCATGGCAGTG ATGGTGATGGTGGCGATTGTGATGGTGATGGTGGTGGTGGTGATGGTGGT GGGTAGTGATGGTGGTGGTGGTCATAGGGGTGGTGGTGATGGTGGTGATG ATGGTGGTCATGGCAGTGATGGTGATGGTGGCGATTGTGATGGTGATGGT GGTGGTGG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGGAGG others(229): Show GGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGGGGGA GGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGA GAAGAAAGAGGAGGAGGAAGATGGGGAGGAGGAGGAGGAAGATGGGGAGG AGGAGGGGGAGTGGGGGGAGGAGGAGAAGAAAGAGGAGGAGGAAGATGGG GAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAATGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18945.hp1 HG00597.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0084 a0001c0001t0001g0085	2	143	0.0140	236	c.590 others(253): Show c.590-1216_590-1215insTCCATTCCCCCTCCTCCTCCCCATCTTC CTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCACT CCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCCCCATCTTCCTCCTCC TCTTTCTTCTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCCCCCCACTCC CCCTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCCCCCCACTCCCCCTCC TCCTCCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GLB1_chr3_32991617_33102146	33025573	C C	CGGAGCAG others(229): Show CGGAGCAGCTGCTGCCATCACGCTGGCTGTGGCGGAAGGAGGTCGTGGGC CGTGGCGGTGGGAGCAGCTGCTGCCATCACGCTGGCTGTGGCGGAAGGAG GTCGTGGGCCGTGGCGGTGGGAGCAGCTGCTGCCATCACGCTGGCTGTGG CGGAAGGAGGTCGTGGGCCGTGGCGGTGGGAGCAGCTGCTGCCATCACGC TGGCTGTGGCGGAAGGAGGTCGTGGGCCGTGGCGGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19054.hp2 NA19077.hp2 HG02083.hp1 NA19054.hp2 NA19077.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0262 a0002c0003t0001g0339 a0002c0003t0001g0346 a0002c0003t0001g0262 a0002c0003t0001g0339 a0002c0003t0001g0346	3	394	0.0076	236	c.106 others(255): Show c.1069-1249_1069-1248insCACCGCCACGGCCCACGACCTCCTTC CGCCACAGCCAGCGTGATGGCAGCAGCTGCTCCCACCGCCACGGCCCACG ACCTCCTTCCGCCACAGCCAGCGTGATGGCAGCAGCTGCTCCCACCGCCA CGGCCCACGACCTCCTTCCGCCACAGCCAGCGTGATGGCAGCAGCTGCTC CCACCGCCACGGCCCACGACCTCCTTCCGCCACAGCCAGCGTGATGGCAG CAGCTGCTCC	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	10/15			chr3	TogoVar
GLIS3_chr9_3819127_4305068	3876692	A A	ACGGAGGG others(229): Show ACGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGGAGGGAGGGGGAGGG AGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGAAGGGAG GGAGGGGAAGGGAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGAGGGAGGG GAAGGAAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGGAAGGAAGGAA GGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0033 a0005c0005t0007g0033	1	188	0.0053	236	c.229 others(255): Show c.2297+2734_2297+2735insCCCTCCCTCCCTCCCTTCCTTCCCCT CCCTCCCTTCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCC TCCCTTCCTTCCCCTCCCTCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTC CCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTC CCTCCCTCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCTCCCTCCCTTCC CCTCCCTCCG	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GPC5_chr13_91393621_92872237	92538793	C C	CATTCTTT others(229): Show CATTCTTTTCGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTT TCTTTATCCAGCCTATCACTGATGGGCATTTTGGTTGGTTCCAAGTCTTT GCTATTGTGAATAGTGCTGCAATAAACATAAATGTGTATATGTCTTTATA GTAGAGTGATTTATAATCCTTTGGGTATATACTTTATATATACATATATA TATACACCTTATATGTATATATATATATACACCTTAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02897.hp2 others(1): Show HG02258.hp2 HG02615.hp2 HG02897.hp2 HG03486.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0005c0005t0002 a0001c0001t0001 a0001c0001t0002 a0005c0005t0002	a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0002g0034 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0002g0034 a0005c0005t0002g0035	4	42	0.0952	236	c.156 others(259): Show c.1562-327487_1562-327486insTCTTTTCGTGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTTATCCAGCCTATCACTGATGG GCATTTTGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAA ACATAAATGTGTATATGTCTTTATAGTAGAGTGATTTATAATCCTTTGGG TATATACTTTATATATACATATATATATACACCTTATATGTATATATATA TATACACCTTATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR157_chr1_9095305_9134102	9116318	A A	ATTATATA others(229): Show ATTATATATAATTATATTATATATTATATGTAATATAAATATATATAATT ATATTATATATATTATATGTAATATAATTATATATATTTATATTATATAT TATATATAATATAATTATATATATAATTATAATATATATTATATATAATA TAATTATATATATAATTTATATATATTATATATAATATAATTATATATAT AAATATATATATAATTATATAATTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0094 a0001c0001t0049g0094	1	404	0.0025	236	c.384 others(253): Show c.384-4830_384-4829insATTATATATATATAATTATATAATTATA TATATATTTATATATATAATTATATTATATATAATATATATAAATTATAT ATATAATTATATTATATATAATATATATTATAATTATATATATAATTATA TTATATATAATATATAATATAAATATATATAATTATATTACATATAATAT ATATAATATAATTATATATATTTATATTACATATAATATATAATATAATT ATATATAA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRHL1_chr2_9946693_10007277	9998889	C C	CACATATA others(229): Show CACATATATATGTACACATATATGTACACATATATATGTACACATATATG TACACATATATATGTACACATATATGTACACATATATATGTACACATATA TGTACACATATATATGTACACATATATGTACACATATATATGTACATATA TATGTACACATATATATGTACATATATATGTACACATATATATATACATA TATATATACATATATATGTACACATATATATATACAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	418	0.0024	236	c.167 others(251): Show c.1678-75_1678-74insCATATATATGTACACATATATGTACACATA TATATGTACACATATATGTACACATATATATGTACACATATATGTACACA TATATATGTACACATATATGTACACATATATATGTACACATATATGTACA CATATATATGTACATATATATGTACACATATATATGTACATATATATGTA CACATATATATATACATATATATATACATATATATGTACACATATATATA TACATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRTP1_chr13_113319163_113369130	113346562	A A	AGGAGCAC others(229): Show AGGAGCACCTCTGTGGCTGAGCGGATCCGGGAGGACCTCTGTGGCAAAGA GCAGACCCAGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCT GTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCCGAGAACAGATCCGG GAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGA GCGGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	288	0.0035	236	c.466 others(253): Show c.466-1604_466-1603insCAGATCCGCTCAGCCACAGAGGTCCTCC CGGGTCCGCTCTCAGCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCACA GAGGTCCTCCCGGATCTGTTCTCGGCCACAGAGGTCCTCCCGGGTCTGTT CTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCC TGGGTCTGCTCTTTGCCACAGAGGTCCTCCCGGATCCGCTCAGCCACAGA GGTGCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346907	T T	TGAGCGGA others(229): Show TGAGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACC TCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACC CAGGAGCACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTC TGTGGCCGAGAACAGATCCGGGAGGACCTCTGAAGCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	288	0.0035	236	c.466 others(253): Show c.466-1949_466-1948insGGCTTCAGAGGTCCTCCCGGATCTGTTC TCGGCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCC AGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAG GTGCTCCTGGGTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTC AGCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCAG ATCCGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347025	T T	TGAGAGCA others(229): Show TGAGAGCAGACCCAGGAGCACCTCTGTGCCTGACAGTGGACCCGGGAGGA CCTCTGTGGCTGAGCGGACCCGGGAGGACCTCTGTGGCCGAGAACAGATC CGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCCGAGAACAGATCCGGGAGGACCTCTGAAGCC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	288	0.0035	236	c.466 others(253): Show c.466-2067_466-2066insGGCTTCAGAGGTCCTCCCGGATCTGTTC TCGGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTCCC AGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAGAG GTCCTCCCGGATCTGTTCTCGGCCACAGAGGTCCTCCCGGGTCCGCTCAG CCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTGCTCCTGGGT CTGCTCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347246	G G	GGGAGGAC others(229): Show GGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGA GCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCT GAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGA GGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAAC AGATCCGGGAGGACCTCTGTGGCCGAGAGCAGACCCA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	288	0.0035	236	c.466 others(253): Show c.466-2288_466-2287insTGGGTCTGCTCTCGGCCACAGAGGTCCT CCCGGATCTGTTCTCGGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCA CAGAGGTCCTCCCAGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCTGCT CTCGGCTTCAGAGGTCCTCCCGGATCTGTTCTTGGCCACAGAGGTCCTCC CGGGTCTGCTCTCTGCCACAGAGGTCCTCCCAGATCCGCTCAGCCACAGA GGTCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347887	A A	AGAGCAGA others(229): Show AGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTC TGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCG GGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAG CGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTG TGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA20300.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0149 a0001c0001t0003g0148 a0001c0001t0002g0149 a0001c0001t0003g0148	2	288	0.0069	236	c.466 others(253): Show c.466-2929_466-2928insACGGCTTCAGAGGTCCTCCCGGATCTGT TCTTGGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTC CCAGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAG AGGTCCTCCCGGATCTGTTCTTGGCCACAGAGGTCCTCCCGGGTCTGCTC TCTGCCACAGAGGTCCTCCCAGATCCGCTCAGCCACAGAGGTCCTCCCGG GTCTGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(229): Show AGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGC GGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGGGGC TGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGGAGGGGGAGGG GAGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01934.hp1 HG02135.hp1 HG00140.hp2 HG01934.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0044 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0044	3	288	0.0104	236	c.-39 others(245): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCC AGCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCC CGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCC CCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(229): Show AGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGC GGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGGCGGGG CTGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGAGGGGGAGGG GAGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00544.hp1 others(85): Show HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp2 HG02735.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18963.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0013	a0001c0001 a0003c0004 a0004c0003 others(4): Show a0001c0001 a0003c0004 a0004c0003 a0005c0007 a0006c0006 a0007c0005 a0013c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0003c0004t0001 a0004c0003t0001 a0005c0007t0001 a0006c0006t0007 a0007c0005t0001 a0013c0013t0001	a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0050 others(85): Show a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0002g0036 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0117 a0001c0001t0002g0168 a0001c0001t0003g0037 a0001c0001t0003g0136 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0172 a0001c0001t0004g0174 a0001c0001t0008g0286 a0003c0004t0001g0062 a0004c0003t0001g0005 a0005c0007t0001g0125 a0006c0006t0007g0161 a0007c0005t0001g0038 a0013c0013t0001g0052	88	288	0.3056	236	c.-39 others(245): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCC CGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCC CCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364450	G G	GGCAGGAG others(229): Show GGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGG GGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGCGGGGGA GGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGGCGGGGCTGGGG GCGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGAGGGGGAGGGGAGAGAG GAGAGGGTGGGGGCGGGGCGGGGAATGGGCGGAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	288	0.0035	236	c.-40 others(245): Show c.-400_-399insACCCTCCGCCCATTCCCCGCCCCGCCCCCACCCTCT CCTCTCTCCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCG CCCCCAGCCCCGCCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCC CTCCCCCGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGC CCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		321		chr13	TogoVar
GSE1_chr16_85608322_85681200	85653236	C C	CCCTCTTC others(229): Show CCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCT CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCCCTCCTCCTCCTCCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0240	1	290	0.0035	236	c.427 others(253): Show c.427-1038_427-1037insTTCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCT CCTCCTCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCCTCCTCC TCCTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	316177	C C	CACACAGA others(229): Show CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA ACACATCCCAGCAGGGACACAAACACACACGCAGACACACACACACACAC ACACACACACACAGTAAATACATCCCGACAGGGACAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	155	0.0065	236	c.487 others(251): Show c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTGTTTGTGTCCCTGCTGG GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGT CCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATG TATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCT CTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	323687	T T	TGTGTGTG others(229): Show TGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGG GTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGT GAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT AGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGA TGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0025 a0004c0007t0002g0025	1	155	0.0065	236	c.-49 others(247): Show c.-4901_-4900insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACG GCTACACACACACACACACACACACACACACACACACACACGTCCCTGAG CTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGG AACCCAGGAGCCCAGGAGACTGACGGCTACACACACACACACACACACAC AC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4892		chrX	TogoVar
HRAS_chr11_527242_540576	530578	G G	GAGAAGGG others(229): Show GAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCG AGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGA AGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTG GAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGT CCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02647.hp2 others(15): Show HG01891.hp2 HG02486.hp1 HG02647.hp2 HG02723.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0018 others(2): Show a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0018 a0001c0002t0002g0016 a0002c0003t0001g0025	18	397	0.0453	236	c.19 others(247): Show c.1949_*1950insGTCCAGGGGACGCCACACTGGCCCTTCTCTCCAG GGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCT CTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCC CCTTCTCTCCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGACGCCAC ACTCGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTCGCCCTT CT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1663		chr11	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307526	A A	ATATTATA others(229): Show ATATTATATATATTATATATAATATATATATTTTATATTATATATATTAT ATATAATATATATATTTTATATTATATATATTATATATAATATATATATT TTATATTATATATATTATATATAATATATATATTTTATATTATATATATT ATATATAATATATATATTTTATATTATATATATTATATATAATATATATA TTTTATATTATATATATTATATATAATATATATTTTC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	141	0.0071	236	c.697 others(255): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAATATATATTTTCTATTATATATATTATATA TAATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1360946	C C	CCTCTCTG others(229): Show CCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTCTG TCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTC TCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTC TCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0097	1	115	0.0087	236	c.759 others(253): Show c.759+2063_759+2064insCTGTCTCTCTCTCCCTTCCCCTCTCTGT CTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCT CTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCT CCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCC CTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTC CCCTCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IPO11_chr5_62407763_62633582	62598527	T T	TTTCTTTC others(229): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT CTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	330	0.0030	236	c.267 others(255): Show c.2679-3235_2679-3234insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar

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