Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DLGAP2_chr8_732628_1713476	747843	TCTGTGGT others(93): Show TCTGTGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGG GATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGG C	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	39	0.0256	-100	c.18+ others(117): Show c.18+10022_18+10121delTGGTGGGATGGGCGGGTCTGCGGTGGGA TGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTC TGCGGTGGGATGGGCGGGCCTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	992741	ACCCCCTG others(93): Show ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGC CCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCC T	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-100	c.73+ others(117): Show c.73+84776_73+84875delCCCCCTGCACCCCCATACTCGGAGTTCC TGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAG TTCCTGTTCTTCTCTCCCTCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1247516	GTAATGGC others(93): Show GTAATGGCCCATGTTGGTGGCCGGCAAGACCTTTGAGATCAGTGTGGGAG TGATGGCCCACATCGGTGGCCGGGAAGACCTTTGAGATCAGTGTGTGAGT C	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG01891.hp1 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0024 a0002c0007t0008 a0001c0003t0024 a0002c0007t0008	a0001c0003t0024g0003 a0002c0007t0008g0040 a0001c0003t0024g0003 a0002c0007t0008g0040	2	40	0.0500	-100	c.74- others(117): Show c.74-11333_74-11234delAATGGCCCATGTTGGTGGCCGGCAAGAC CTTTGAGATCAGTGTGGGAGTGATGGCCCACATCGGTGGCCGGGAAGACC TTTGAGATCAGTGTGTGAGTCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1248460	CCCACGTC others(93): Show CCCACGTCGGTGGCCGGGAAGACCTTTGAGATCAGTGTGGGAGTGATGGT CCATGTCTGTGGCCGGGAAGACCTTTGAGATCAGTGTGTGAGTCTGATAG T	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG01891.hp1 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0024 a0002c0007t0008 a0001c0003t0024 a0002c0007t0008	a0001c0003t0024g0003 a0002c0007t0008g0040 a0001c0003t0024g0003 a0002c0007t0008g0040	2	9	0.2222	-100	c.74- others(117): Show c.74-10377_74-10278delCGGGAAGACCTTTGAGATCAGTGTGGGA GTGATGGTCCATGTCTGTGGCCGGGAAGACCTTTGAGATCAGTGTGTGAG TCTGATAGTCCACGTCGGTGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1650740	GTGGGAGG others(93): Show GTGGGAGGAGAGTAGACACAGAAGCTTGGGTGGCAGTTGCTGGAGCAGAG GTGGGAGGAGAGTAGACACAGAAGCTTGGGTGACAGTTGCTGGAGCAGAG A	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp1 HG02647.hp1 others(5): Show HG01496.hp2 HG01891.hp1 HG02647.hp1 HG02647.hp2 HG02818.hp2 HG02922.hp1 NA18906.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0002c0001 a0002c0006 others(2): Show a0001c0003 a0002c0001 a0002c0006 a0003c0005 a0004c0008	a0001c0003t0013 a0001c0003t0017 a0001c0003t0024 others(5): Show a0001c0003t0013 a0001c0003t0017 a0001c0003t0024 a0002c0001t0002 a0002c0006t0021 a0003c0005t0002 a0003c0005t0004 a0004c0008t0016	a0001c0003t0013g0007 a0001c0003t0017g0004 a0001c0003t0024g0003 others(5): Show a0001c0003t0013g0007 a0001c0003t0017g0004 a0001c0003t0024g0003 a0002c0001t0002g0013 a0002c0006t0021g0014 a0003c0005t0002g0030 a0003c0005t0004g0037 a0004c0008t0016g0028	8	40	0.2000	-100	c.181 others(121): Show c.1811-17557_1811-17458delGCAGTTGCTGGAGCAGAGGTGGGA GGAGAGTAGACACAGAAGCTTGGGTGACAGTTGCTGGAGCAGAGATGGGA GGAGAGTAGACACAGAAGCTTGGGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32452396	AAGGGAAA others(93): Show AAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG G	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp1 HG01515.hp1 others(9): Show HG00621.hp1 HG01074.hp1 HG01515.hp1 HG02027.hp1 HG03017.hp1 HG03654.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18994.hp1 NA19060.hp1 NA19085.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0001c0002 a0001c0053 others(2): Show a0001c0001 a0001c0002 a0001c0053 a0002c0005 a0016c0055	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0053t0001 a0002c0005t0001 a0002c0005t0002 a0016c0055t0001	a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0076 others(9): Show a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0003g0016 a0001c0001t0010g0008 a0001c0002t0001g0085 a0001c0002t0002g0052 a0001c0002t0010g0093 a0001c0053t0001g0096 a0002c0005t0001g0043 a0002c0005t0002g0015 a0016c0055t0001g0041	12	104	0.1154	-100	c.360 others(119): Show c.3603+2166_3603+2265delCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCTTTCCCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DOC2B_chr17_137789_186650	141211	GCCTTGGT others(93): Show GCCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACATGGGGGGG A	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG03098.hp2 others(1): Show HG02258.hp1 HG02559.hp1 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0102 a0001c0005t0007g0108 a0001c0005t0007g0109 others(1): Show a0001c0005t0007g0102 a0001c0005t0007g0108 a0001c0005t0007g0109 a0001c0005t0007g0111	4	333	0.0120	-100	c.61 others(111): Show c.6131_*6230delCCCCCCCATGTCCCCTCACCAAGGCCCCCCTATG TCCCCTCACCAGGTCCCCTCACCAAGGTCCCCCCCATGTCCCCTCACCAG GTCCCCTCACCAAGGC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1578		chr17	TogoVar
DOCK3_chr3_50669927_51389198	51249568	GCCCGGCC others(93): Show GCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGTCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC A	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0064 a0001c0001t0011g0064	1	30	0.0333	-100	c.218 others(119): Show c.2184+2777_2184+2876delAGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGTCCCGTCCGGGAGGGAGGTGGGGGGGGGTC AGCCCCCCACCCGGCCAGCCGCCC	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	22/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOK6_chr18_69395888_69854087	69760645	CCTACTCC others(93): Show CCTACTCCTGAAATCTTATTGGGAAGCTGCTGATCAGTTTCAGGTGTTTT CTATCTAGTAGGAGCCTGCCTTTCCCGGGGGCCGGTTGTGACCAATTATT A	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp2 NA19240.hp2 others(2): Show HG02572.hp2 HG03041.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0053 a0001c0002t0079 others(2): Show a0001c0002t0026 a0001c0002t0053 a0001c0002t0079 a0001c0002t0101 a0001c0002t0107	a0001c0002t0026g0019 a0001c0002t0053g0063 a0001c0002t0079g0050 others(2): Show a0001c0002t0026g0019 a0001c0002t0053g0063 a0001c0002t0079g0050 a0001c0002t0101g0093 a0001c0002t0107g0079	5	168	0.0298	-100	c.856 others(117): Show c.856+2854_856+2953delCGGTTGTGACCAATTATTACTACTCCTG AAATCTTATTGGGAAGCTGCTGATCAGTTTCAGGTGTTTTCTATCTAGTA GGAGCCTGCCTTTCCCGGGGGC	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69760727	CGGTTGTG others(93): Show CGGTTGTGACCAATTATTACTACTCCTGAAATCTTATTGGGAAGCTGCTG ATCAGTTTCAGGTGTTTTCTATCTAGTAGGAGCCTGCCTTTCCCGGGGGC T	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	1	162	0.0062	-100	c.856 others(117): Show c.856+2857_856+2956delTTGTGACCAATTATTACTACTCCTGAAA TCTTATTGGGAAGCTGCTGATCAGTTTCAGGTGTTTTCTATCTAGTAGGA GCCTGCCTTTCCCGGGGGCTGG	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69760897	GTCTAGTA others(93): Show GTCTAGTAGGAGCCTGCCTTTCCCGGGGGCCGGTTGTGACCAATTATTAC TACTCCTGAAATCTTACTGGGAAGCTGCTGATCAGTTTCAGGTGTTTTCT A	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0103 a0001c0002t0103	a0001c0002t0103g0161 a0001c0002t0103g0161	1	163	0.0061	-100	c.856 others(117): Show c.856+3054_856+3153delCGGTTGTGACCAATTATTACTACTCCTG AAATCTTACTGGGAAGCTGCTGATCAGTTTCAGGTGTTTTCTATCTAGTA GGAGCCTGCCTTTCCCGGGGGC	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69761133	TGACCAAT others(93): Show TGACCAATTATTACTACTCCTGAAATCTTACTGGGAAGCTGCTGATCAGT TTCAGGTGTTTTCTATCTATTAAGAGCCTGCCTTTCCCTGGGGCCGGCTG C	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01496.hp2 HG02055.hp2 others(9): Show HG00609.hp1 HG01496.hp2 HG02055.hp2 HG02145.hp2 HG02647.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0041 a0001c0001t0060 a0001c0001t0062 a0001c0001t0075 a0001c0001t0092 a0001c0001t0108 a0001c0002t0066 a0001c0002t0095	a0001c0001t0001g0150 a0001c0001t0004g0138 a0001c0001t0005g0031 others(9): Show a0001c0001t0001g0150 a0001c0001t0004g0138 a0001c0001t0005g0031 a0001c0001t0015g0034 a0001c0001t0041g0077 a0001c0001t0060g0021 a0001c0001t0062g0035 a0001c0001t0075g0007 a0001c0001t0092g0049 a0001c0001t0108g0016 a0001c0002t0066g0164 a0001c0002t0095g0094	12	168	0.0714	-100	c.856 others(117): Show c.856+3336_856+3435delCCTGCCTTTCCCTGGGGCCGGCTGCGAC CAATTATTACTACTCCTGAAATCTTACTGGGAAGCTGCTGATCAGTTTCA GGTGTTTTCTATCTATTAAGAG	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DPP9_chr19_4670227_4728842	4672249	ATATTCAT others(93): Show ATATTCATATATATGAATATATATATTAATATATTCATATATATATACTT ATATTCATATATTCATATATATACTTATATTCATATATTCATATATATAC T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03209.hp2 HG02055.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0237 a0001c0002t0002g0238	2	305	0.0066	-100	c.42 others(111): Show c.4215_*4314delAGTATATATATGAATATATGAATATAAGTATATA TATGAATATATGAATATAAGTATATATATATGAATATATTAATATATATA TTCATATATATGAATA	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		2977		chr19	TogoVar
DPY19L2_chr12_63553913_63673493	63556361	TATACATA others(93): Show TATACATATATACACGTGTATACATATGTATATACATATATACACGTGTA TACATATGTATATACATATATACACGTGTATATATGTATACATGTATATA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG00642.hp2 others(71): Show HG00408.hp1 HG00621.hp1 HG00642.hp2 HG01168.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG01978.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02735.hp1 HG02895.hp2 HG03139.hp1 HG03927.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA20129.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0011	a0002c0002 a0002c0013 a0003c0004 others(2): Show a0002c0002 a0002c0013 a0003c0004 a0004c0008 a0011c0010	a0002c0002t0002 a0002c0002t0012 a0002c0002t0016 others(5): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0016 a0002c0013t0002 a0003c0004t0007 a0004c0008t0008 a0004c0008t0014 a0011c0010t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0015 others(64): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0015 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0126 a0002c0002t0012g0049 a0002c0002t0016g0053 a0002c0013t0002g0074 a0003c0004t0007g0091 a0003c0004t0007g0172 a0004c0008t0008g0192 a0004c0008t0008g0193 a0004c0008t0014g0297 a0011c0010t0002g0010	74	359	0.2061	-100	c.40 others(111): Show c.4051_*4150delGTATATACATGTATACATATATACACGTGTATAT ATGTATATACATATGTATACACGTGTATATATGTATATACATATGTATAC ACGTGTATATATGTAT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding		2551		chr12	TogoVar
ECHS1_chr10_133357485_133378354	133369344	CATCCGCA others(93): Show CATCCGCAGACCCCTGGCTTACACGGCAGGGAGTGTCATGAAATGATCAC AATCCGCAGACCCCTGGTTTACACGGCAGGGAGCGTCATGAAATGATCAC A	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0005c0009 a0006c0013 a0007c0010 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0008t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0004 a0005c0009t0001 a0006c0013t0001 a0007c0010t0001 a0008c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(120): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0065 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0003g0058 a0001c0008t0001g0044 a0001c0008t0001g0045 a0001c0008t0001g0082 a0002c0002t0001g0003 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0118 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0133 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0164 a0002c0002t0002g0014 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0149 a0002c0002t0002g0160 a0003c0003t0004g0130 a0005c0009t0001g0066 a0006c0013t0001g0139 a0007c0010t0001g0104 a0008c0011t0001g0098	286	351	0.8148	-100	c.415 others(115): Show c.415-422_415-323delTGTGATCATTTCATGACGCTCCCTGCCGTG TAAACCAGGGGTCTGCGGATTGTGATCATTTCATGACACTCCCTGCCGTG TAAGCCAGGGGTCTGCGGAT	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding	3/7			chr10	TogoVar
ENOSF1_chr18_665318_717630	667417	GTGATGGT others(93): Show GTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGATGGAGAT GGTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGG T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0178 a0002c0002t0005g0179 a0002c0002t0005g0178 a0002c0002t0005g0179	2	412	0.0049	-100	c.67 others(111): Show c.6788_*6887delACCATCACCATCACCATCTCCATCACCATCACCA TCACCATCACCATCACCATCTCCATCATCACCATCACCATCACCATCACC ATCTCCATCACCATCA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2900		chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5457106	AAAAACTG others(93): Show AAAAACTGAAACCATAAGGCAAACCGCACTCTCAACATGGCTTCAAGATA GGTACAGCCTTTTCCTGTAAGCAACAACTCTACCGTTCTTTTATCTGTAG G	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01175.hp1 others(57): Show HG00733.hp1 HG00738.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03834.hp2 HG04184.hp1 NA18747.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18965.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp1 NA18986.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19057.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0010	a0001c0001 a0001c0002 a0001c0020 others(4): Show a0001c0001 a0001c0002 a0001c0020 a0002c0003 a0003c0004 a0009c0019 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0020t0001 a0002c0003t0001 a0002c0003t0006 a0003c0004t0005 a0009c0019t0001 a0010c0016t0001	a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0039 others(57): Show a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0002g0126 a0001c0001t0002g0165 a0001c0001t0003g0125 a0001c0001t0006g0108 a0001c0001t0008g0064 a0001c0001t0008g0193 a0001c0001t0009g0002 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0048 a0001c0002t0002g0054 a0001c0002t0002g0074 a0001c0002t0002g0173 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0221 a0001c0002t0003g0147 a0001c0020t0001g0197 a0002c0003t0001g0098 a0002c0003t0006g0120 a0003c0004t0005g0101 a0009c0019t0001g0094 a0010c0016t0001g0151	60	220	0.2727	-100	c.382 others(119): Show c.382-11962_382-11863delCCTACAGATAAAAGAACGGTAGAGTT GTTGCTTACAGGAAAAGGCTGTACCTATCTTGAAGCCATGTTGAGAGTGC GGTTTGCCTTATGGTTTCAGTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	3/22			chr18	TogoVar
ERFL_chr19_41902704_41933449	41914757	TTCCACCG others(93): Show TTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCT CCCCCTCCACCGTGTCTCCCCCCCTTTCCACCGTCTCTGTCTCTCCCCCC C	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	261	0.0038	-100	c.-13 others(117): Show c.-13-1925_-13-1826delGGGGGGGAGAGACAGAGACGGTGGAAAG GGGGGGAGACACGGTGGAGGGGGAGGGAGAGACAGAGACGGTGGAAGGGG AGGGAGAGACAGAGACGGTGGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERICH3_chr1_74563123_74678792	74671135	CTTATCAG others(93): Show CTTATCAGTAGTTCTGCTTTTGCCCTTTGCCTTGTGATCTTTGTTGGACC CTTATCATTAGCTCTGTTTTTGTCCTTTACCTTGTGATCTTTGTTGGACC T	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00642.hp1 others(66): Show HG00323.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01257.hp1 HG01975.hp2 HG01978.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03209.hp1 HG03492.hp1 HG03540.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18941.hp1 NA18950.hp1 NA18950.hp2 NA18962.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18978.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18992.hp1 NA18995.hp1 NA19001.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19060.hp1 NA19074.hp1 NA19077.hp1 NA19083.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0014 a0016 a0023	a0001c0001 a0001c0008 a0002c0002 others(9): Show a0001c0001 a0001c0008 a0002c0002 a0002c0010 a0003c0003 a0004c0005 a0005c0004 a0006c0006 a0010c0011 a0014c0036 a0016c0019 a0023c0040	a0001c0001t0002 a0001c0008t0002 a0002c0002t0001 others(11): Show a0001c0001t0002 a0001c0008t0002 a0002c0002t0001 a0002c0002t0015 a0002c0010t0001 a0003c0003t0001 a0004c0005t0001 a0004c0005t0011 a0005c0004t0001 a0006c0006t0003 a0010c0011t0001 a0014c0036t0012 a0016c0019t0002 a0023c0040t0001	a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 others(64): Show a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0118 a0001c0008t0002g0085 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0102 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0157 a0002c0002t0015g0278 a0002c0010t0001g0093 a0002c0010t0001g0094 a0002c0010t0001g0116 a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0056 a0003c0003t0001g0058 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0076 a0003c0003t0001g0078 a0003c0003t0001g0082 a0003c0003t0001g0084 a0003c0003t0001g0101 a0003c0003t0001g0103 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0117 a0004c0005t0001g0059 a0004c0005t0001g0062 a0004c0005t0001g0083 a0004c0005t0001g0088 a0004c0005t0011g0087 a0005c0004t0001g0068 a0005c0004t0001g0069 a0005c0004t0001g0070 a0005c0004t0001g0090 a0005c0004t0001g0104 a0005c0004t0001g0105 a0005c0004t0001g0106 a0006c0006t0003g0077 a0010c0011t0001g0115 a0014c0036t0012g0067 a0016c0019t0002g0075 a0023c0040t0001g0100	69	288	0.2396	-100	c.23+ others(115): Show c.23+2262_23+2361delAGGTCCAACAAAGATCACAAGGTAAAGGAC AAAAACAGAGCTAATGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGC AAAAGCAGAACTACTGATAA	ERICH3	ENSG00000178965.14	transcript	ENST00000326665.10	protein_coding	1/14			chr1	TogoVar
ETNPPL_chr4_108737053_108768053	108747156	TATATATA others(93): Show TATATATATTATATATATATATATAATATATATATATATTATATATATAT ATAATATATATATATATATTATATATATATATATAATATATATATATATT A	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03139.hp2 HG03209.hp2 others(3): Show HG01109.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0045 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0051	6	376	0.0160	-100	c.108 others(117): Show c.1083-405_1083-306delTAATATATATATATATTATATATATATA TATAATATATATATATATATTATATATATATATAATATATATATATATTA TATATATATATATAATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12			chr4	TogoVar
ETS1_chr11_128453765_128592558	128584976	AAGAAAGA others(93): Show AAGAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGGAAAGAAAGAAGAA AGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp1 HG01256.hp1 others(10): Show HG00558.hp2 HG01069.hp1 HG01256.hp1 HG01433.hp2 HG02647.hp2 HG02717.hp2 HG03098.hp1 HG03486.hp1 HG04204.hp2 HG06807.hp1 NA18959.hp1 NA18959.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009	a0001c0001t0002g0156 a0001c0001t0004g0116 a0001c0001t0005g0046 others(10): Show a0001c0001t0002g0156 a0001c0001t0004g0116 a0001c0001t0005g0046 a0001c0001t0005g0109 a0001c0001t0026g0020 a0001c0002t0001g0009 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0003g0040 a0001c0002t0003g0157 a0001c0002t0004g0019 a0001c0002t0006g0115 a0001c0002t0009g0070	13	284	0.0458	-100	c.-15 others(117): Show c.-15+2412_-15+2511delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTCTTTCTTTCTTCTTTCTTTCCTTTCTTTCCTTC CTTCCTTCCTTTCTTTCTTTCT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128585015	AGAAAGAA others(93): Show AGAAAGAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAGGAAGGAA G	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp1 HG02723.hp1 others(2): Show HG02258.hp1 HG02717.hp1 HG02723.hp1 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0002t0024 a0001c0005t0003	a0001c0001t0004g0104 a0001c0001t0006g0124 a0001c0001t0019g0071 others(2): Show a0001c0001t0004g0104 a0001c0001t0006g0124 a0001c0001t0019g0071 a0001c0002t0024g0002 a0001c0005t0003g0117	5	232	0.0216	-100	c.-15 others(117): Show c.-15+2373_-15+2472delCTTCCTTCCTTCCTTTCTTTCTTTCCTT TCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTTCTTTCTTTCTTCTTTC	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128585024	AAAGAAAG others(93): Show AAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp1 HG01106.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0155 a0001c0002t0002g0232 a0001c0002t0002g0155 a0001c0002t0002g0232	2	279	0.0072	-100	c.-15 others(117): Show c.-15+2364_-15+2463delCTTTCTTTCCTTCCTTCCTTCCTTTCTT TCTTTCCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTCTTTCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128585036	GAAAGAAA others(93): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA GAAAGGAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGAAGAAAGAAAG A	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0126 a0001c0002t0027g0126	1	280	0.0036	-100	c.-15 others(117): Show c.-15+2352_-15+2451delTCTTTCTTTCTTCTTTCTTTCCTTCCTT CCTTCCTTTCTTTCTTTCCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128585089	AGGAAAGA others(93): Show AGGAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGAAGAAAGAAAGAAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA G	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp2 HG03017.hp2 HG02615.hp2 HG02896.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0008	a0001c0001t0001g0182 a0001c0002t0008g0125 a0001c0002t0008g0128 a0001c0001t0001g0182 a0001c0002t0008g0125 a0001c0002t0008g0128	3	278	0.0108	-100	c.-15 others(117): Show c.-15+2299_-15+2398delCTTCTTTCTTTCTTTCTTTCTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTCTTTCTTTCCTTC CTTCCTTCCTTTCTTTCTTTCC	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
EVA1C_chr21_32407706_32520387	32477718	CACCTCCC others(93): Show CACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCC CCCGTACGCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTAC G	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00738.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03209.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp2 NA18522.hp1 NA18906.hp1 NA18941.hp2 NA18950.hp2 NA18954.hp1 NA18962.hp2 NA18973.hp1 NA18977.hp2 NA18980.hp1 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA19000.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp1 NA19088.hp2 NA19091.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0004c0016 a0005c0025 a0007c0026	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0010t0001 a0004c0016t0001 a0005c0025t0001 a0007c0026t0001	a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0059 others(67): Show a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0059 a0001c0001t0001g0096 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0207 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0238 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0234 a0001c0002t0001g0240 a0001c0002t0001g0291 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0001g0311 a0001c0002t0001g0314 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0324 a0001c0002t0001g0327 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0002g0321 a0001c0006t0001g0076 a0001c0006t0001g0077 a0001c0010t0001g0147 a0001c0010t0001g0228 a0001c0010t0001g0251 a0004c0016t0001g0316 a0005c0025t0001g0333 a0007c0026t0001g0082	70	342	0.2047	-100	c.634 others(117): Show c.634+9871_634+9970delACCTCCCCCGTACGCCCTCCCCTCCCCT CCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC CTCCCCTCCCCTCCCCCGTACG	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7			chr21	TogoVar
EYA3_chr1_27965344_28093610	28001444	TGTAAATA others(93): Show TGTAAATATATAAAATTTTTTTTTGCCAGGCGCAGTGGCTCACGCCTGTA ATCGCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGGGAT C	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01255.hp2 HG02280.hp2 others(5): Show HG01069.hp1 HG01255.hp2 HG02280.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp2 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 others(5): Show a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0012g0023	8	390	0.0205	-100	c.994 others(117): Show c.994-1495_994-1396delGATCCCCTGACCTCATGATCCACCTGCC TTGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCTGGCA AAAAAAAATTTTATATATTTAC	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	11/17			chr1	TogoVar
EZR_chr6_158760748_158824368	158803536	TATATATA others(93): Show TATATATATGTATATATATATATATATATATATATATATATATATACATA TATATATATATATATATATACATATATATATATATATATACATATACATA C	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00738.hp2 others(9): Show HG00280.hp2 HG00639.hp2 HG00738.hp2 HG01175.hp2 HG01192.hp1 HG01975.hp1 HG01978.hp1 HG02451.hp1 HG02970.hp1 HG03831.hp2 NA18944.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0005t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0016 others(8): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0171 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0004g0246 a0001c0001t0014g0255 a0001c0005t0002g0186	12	285	0.0421	-100	c.13- others(117): Show c.13-14265_13-14166delGTATGTATATGTATATATATATATATAT ATGTATATATATATATATATATATATGTATATATATATATATATATATAT ATATATATATATACATATATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
FAM114A1_chr4_38862806_38950739	38915805	AGCACTTA others(93): Show AGCACTTAATGGCACTTACATAGCCACTATTCTAAATACCATAAAACTGT TAACTTATTTAACTGTATATATGTGGCTGTTTTGTGGATGTCAGGCTGAC T	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp1 HG00642.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0218	3	370	0.0081	-100	c.945 others(115): Show c.945+734_945+833delCACTTAATGGCACTTACATAGCCACTATTC TAAATACCATAAAACTGTTAACTTATTTAACTGTATATATGTGGCTGTTT TGTGGATGTCAGGCTGACTG	FAM114A1	ENSG00000197712.12	transcript	ENST00000358869.5	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM174B_chr15_92612448_92660775	92630811	TTTATATA others(93): Show TTTATATATTACATATTATATATTATATATATTACATATTACATGTTACA TATTACATATTATATATTATATATTACGTATTACATATTACATATTATAT A	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0351 a0001c0001t0016g0351	1	292	0.0034	-100	c.345 others(115): Show c.345-566_345-467delTATATAATATGTAATATGTAATACGTAATA TATAATATATAATATGTAATATGTAACATGTAATATGTAATATATATAAT ATATAATATGTAATATATAA	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FARP1_chr13_98138094_98460176	98378954	ATATAATA others(93): Show ATATAATATATACAATATATAATCTATATATAATATATATATAATATATA CAATATATAATCTATATATAATATATATAATATATACAATATGTAATCTA T	A A	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0108 a0001c0002t0006g0108	1	170	0.0059	-100	c.496 others(117): Show c.496+1037_496+1136delTATAATATATACAATATATAATCTATAT ATAATATATATATAATATATACAATATATAATCTATATATAATATATATA ATATATACAATATGTAATCTAT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	6/26			chr13	TogoVar
FARP1_chr13_98138094_98460176	98378956	ATAATATA others(93): Show ATAATATATACAATATATAATCTATATATAATATATATATAATATATACA ATATATAATCTATATATAATATATATAATATATACAATATGTAATCTATA T	A A	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0095 a0001c0002t0070g0095	1	171	0.0058	-100	c.496 others(117): Show c.496+1039_496+1138delTAATATATACAATATATAATCTATATAT AATATATATATAATATATACAATATATAATCTATATATAATATATATAAT ATATACAATATGTAATCTATAT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	6/26			chr13	TogoVar
FBRSL1_chr12_132485151_132590188	132547239	TTACTGAA others(93): Show TTACTGAAAACGGAGAACGGACAGTCAGTGTGTTCTTCGTAGGGCTCTGC TTACTGAAAACGGAGAACGGACAGTCAGTGTGTTCTTTGTAGGGCTCTGC C	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19043.hp2 HG01175.hp2 NA19043.hp2	a0004 a0008 a0004 a0008	a0004c0062 a0008c0027 a0004c0062 a0008c0027	a0004c0062t0041 a0008c0027t0008 a0004c0062t0041 a0008c0027t0008	a0004c0062t0041g0139 a0008c0027t0008g0180 a0004c0062t0041g0139 a0008c0027t0008g0180	2	346	0.0058	-100	c.616 others(115): Show c.616-743_616-644delCAGTCAGTGTGTTCTTCGTAGGGCTCTGCT TACTGAAAACGGAGAACGGACAGTCAGTGTGTTCTTTGTAGGGCTCTGCC TACTGAAAACGGAGAACGGA	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FLT4_chr5_180596506_180654600	180617253	CCTCTGGG others(93): Show CCTCTGGGACACACACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAG ACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAG A	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02135.hp2 NA18983.hp2 others(1): Show HG02074.hp1 HG02135.hp2 NA18983.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0259 a0001c0001t0001g0365 others(1): Show a0001c0001t0001g0170 a0001c0001t0001g0259 a0001c0001t0001g0365 a0001c0001t0001g0366	4	388	0.0103	-100	c.300 others(117): Show c.3002-359_3002-260delTCTGAGGGGCAGGAGAGGGTGCTCTGGA GTAGGACGTGGGTGTCCCAGAGTCTGAGGGGCAGGAGAGGGTGCTCTGGA GTAGGACGTGTGTGTCCCAGAG	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180635058	ATGGATGG others(93): Show ATGGATGGAAGTATGGGTGGGAGGGTGGGTGGATGGATGGATGGATGGAA GTATGGGTGGAGGGGTGGGTGGATGGATGCATGGATGGATGGAAGGGTGG G	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	387	0.0026	-100	c.59- others(115): Show c.59-3380_59-3281delCCCACCCTTCCATCCATCCATGCATCCATC CACCCACCCCTCCACCCATACTTCCATCCATCCATCCATCCACCCACCCT CCCACCCATACTTCCATCCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180635117	GAGGGGTG others(93): Show GAGGGGTGGGTGGATGGATGCATGGATGGATGGAAGGGTGGGTGGATGGA TGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGGATGGATGGAAG T	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0344 a0002c0002t0001g0344	1	388	0.0026	-100	c.59- others(115): Show c.59-3439_59-3340delACTTCCATCCATCCATCCACCCACCCACCC ATCCACCCATACTTCCATCCATCCATCCACCCACCCTTCCATCCATCCAT GCATCCATCCACCCACCCCT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FMN1_chr15_32760544_33199714	32949954	TATATATA others(93): Show TATATATATATACACACATATATATACACACACATATATATACACATACA CATATATATATACACATATATATATATATACACATATATATATATATACA C	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0006 a0008c0009t0006	a0008c0009t0006g0114 a0008c0009t0006g0114	1	192	0.0052	-100	c.313 others(121): Show c.3138+14053_3138+14152delGTGTATATATATATATATGTGTAT ATATATATATATGTGTATATATATATGTGTATGTGTATATATATGTGTGT GTATATATATGTGTGTATATATATAT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FNDC11_chr20_63549159_63561695	63553558	CGCGGTGG others(93): Show CGCGGTGGGAGGAGCCTATGATGGGAGGGGCCGTTGCGGGGGAGGGGGGA GCCCATGGTGGGAGGAGCCTGTGGTTGAGGAGCCTGCGGTGGGGGGAGCC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01361.hp2 HG01884.hp2 others(38): Show HG01255.hp1 HG01361.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0006c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0002t0001g0002 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0002t0001g0002 a0001c0003t0001g0002 a0001c0005t0001g0003 a0006c0009t0001g0003	41	414	0.0990	-100	c.-65 others(109): Show c.-658_-559delGCGGTGGGAGGAGCCTATGATGGGAGGGGCCGTTGC GGGGGAGGGGGGAGCCCATGGTGGGAGGAGCCTGTGGTTGAGGAGCCTGC GGTGGGGGGAGCCT	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		600		chr20	TogoVar
FNDC5_chr1_32857268_32875912	32871374	GCTAAGTG others(93): Show GCTAAGTGGACACTAGGGCTCCGTGTTTCCAGTGGGGTTGGGAAGAGGCT GCTCTGTCTCACTGGAGAGTCCAGCTCTGTGACCCCAGGCCAGTCCTTTT C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	412	0.0024	-100	c.-72 others(109): Show c.-728_-629delGAAAAGGACTGGCCTGGGGTCACAGAGCTGGACTCT CCAGTGAGACAGAGCAGCCTCTTCCCAACCCCACTGGAAACACGGAGCCC TAGTGTCCACTTAG	FNDC5	ENSG00000160097.21	transcript	ENST00000373471.9	protein_coding		463	WARNING_TRANSCRIPT_NO_START_CODON	chr1	TogoVar
FSCN1_chr7_5587816_5611655	5607125	TTCCCCAG others(93): Show TTCCCCAGACACAGCAGGTTGGGGTGCCCCTGGGGCTGGGAGATGCTGCC CTGGGCCCCTCAGGGGGCGGCCGTGGTAGGATGGACCGGGCCGAGCGTGC A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	360	0.0028	-100	c.16 others(111): Show c.1652_*1751delTCCCCAGACACAGCAGGTTGGGGTGCCCCTGGGG CTGGGAGATGCTGCCCTGGGCCCCTCAGGGGGCGGCCGTGGTAGGATGGA CCGGGCCGAGCGTGCA	FSCN1	ENSG00000075618.18	transcript	ENST00000382361.8	protein_coding		471		chr7	TogoVar
FTCD_chr21_46131779_46160579	46140435	CAGGGAGT others(93): Show CAGGGAGTGTAAACCAACCCAGCACTCCTCGTCCACCTTCACATTGTTCG CAGGGAATGTAAATCAACCCAGCCCTCCCCGTCCACCTTCGCATTGCTCA G	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02897.hp1 others(1): Show HG02257.hp2 HG02559.hp2 HG02897.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0006 a0001c0001t0006 a0001c0002t0006	a0001c0001t0006g0123 a0001c0002t0006g0124 a0001c0002t0006g0126 others(1): Show a0001c0001t0006g0123 a0001c0002t0006g0124 a0001c0002t0006g0126 a0001c0002t0006g0169	4	228	0.0175	-100	c.126 others(119): Show c.1261-1612_1261-1513delCTGAGCAATGCGAAGGTGGACGGGGA GGGCTGGGTTGATTTACATTCCCTGCGAACAATGTGAAGGTGGACGAGGA GTGCTGGGTTGGTTTACACTCCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FUT5_chr19_5860826_5875540	5861103	ACCATCTT others(93): Show ACCATCTTGGTTTGGGTGGGCTTTGAGGATGCCCTGAGGTCACTCTCATC ACCATCTTGGTTTGGGTGGGCTTTGAGGATGCCCTGAGGTCACTCTCATC G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01358.hp1 others(1): Show HG00140.hp2 HG01123.hp2 HG01358.hp1 HG01361.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0005 a0004c0005t0005 a0002c0002t0005 a0004c0005t0005	a0002c0002t0005g0041 a0002c0002t0005g0156 a0004c0005t0005g0133 a0002c0002t0005g0041 a0002c0002t0005g0156 a0004c0005t0005g0133	4	450	0.0089	-100	c.53 others(111): Show c.5398_*5497delCGATGAGAGTGACCTCAGGGCATCCTCAAAGCCC ACCCAAACCAAGATGGTGATGAGAGTGACCTCAGGGCATCCTCAAAGCCC ACCCAAACCAAGATGG	FUT5	ENSG00000130383.7	transcript	ENST00000588525.1	protein_coding		4722		chr19	TogoVar
GALNT17_chr7_71127144_71718599	71603888	GTGCTAAG others(93): Show GTGCTAAGTGCATACAGTGGATACTATGCTAAGTGCATTTACCAGGCACT ATGCTAAGTGCATACAGTGAATACCATGCTAAGTGCATATACCAGGTCCT A	G G	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01261.hp1 HG02040.hp2 others(3): Show HG01258.hp2 HG01261.hp1 HG02040.hp2 HG02109.hp2 HG02615.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0010 a0001c0001 a0001c0004 a0002c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0004t0003 a0001c0004t0004 a0002c0010t0003	a0001c0001t0001g0045 a0001c0001t0006g0056 a0001c0001t0013g0073 others(3): Show a0001c0001t0001g0045 a0001c0001t0006g0056 a0001c0001t0013g0073 a0001c0004t0003g0013 a0001c0004t0004g0030 a0002c0010t0003g0009	6	76	0.0789	-100	c.108 others(121): Show c.1080+32523_1080+32622delTTTACCAGGCACTATGCTAAGTGC ATACAGTGAATACCATGCTAAGTGCATATACCAGGTCCTATGCTAAGTGC ATACAGTGGATACTATGCTAAGTGCA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALP_chr19_56171008_56190775	56176108	CCGGGGTG others(93): Show CCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGGCTGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA G	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01081.hp1 others(17): Show HG00639.hp2 HG00733.hp1 HG01081.hp1 HG01256.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01981.hp2 HG02055.hp1 HG02615.hp2 HG02630.hp1 HG02886.hp1 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03704.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0001 a0002c0003t0003 a0001c0002t0003 a0002c0003t0001 a0002c0003t0003	a0001c0002t0003g0021 a0001c0002t0003g0302 a0002c0003t0001g0019 others(9): Show a0001c0002t0003g0021 a0001c0002t0003g0302 a0002c0003t0001g0019 a0002c0003t0001g0057 a0002c0003t0001g0257 a0002c0003t0001g0264 a0002c0003t0003g0009 a0002c0003t0003g0020 a0002c0003t0003g0057 a0002c0003t0003g0270 a0002c0003t0003g0271 a0002c0003t0003g0272	20	394	0.0508	-100	c.-40 others(114): Show c.-40+80_-40+179delTCGGCTGCCAGCTGCAGCGGGGTGAGAGCCT AGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCT AGGCCAGGAGGGCACAGGG	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176258	GCGGGGTG others(93): Show GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA C	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp2 HG01243.hp2 others(17): Show HG00280.hp2 HG01109.hp2 HG01243.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 NA18522.hp2 NA18963.hp2 NA19043.hp1 NA19066.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0002c0003t0001 a0002c0003t0002 a0002c0003t0010	a0001c0001t0001g0006 a0001c0001t0001g0082 a0001c0001t0001g0088 others(12): Show a0001c0001t0001g0006 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0267 a0001c0001t0002g0307 a0001c0001t0003g0013 a0001c0001t0003g0136 a0001c0001t0009g0026 a0001c0001t0009g0084 a0002c0003t0001g0012 a0002c0003t0001g0083 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0002g0094 a0002c0003t0010g0087	20	420	0.0476	-100	c.-40 others(115): Show c.-40+286_-40+385delCCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGAT	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176409	CGGGGTGA others(93): Show CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAG CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCAC G	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	387	0.0026	-100	c.-40 others(115): Show c.-40+431_-39-478delCGGATCCCAGCTGCACGGGGGTGAGAGCCT AGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCT AGGCCAGGAGGGCAGAGGGG	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GATA5_chr20_62458497_62480995	62463333	ACGGGTGA others(93): Show ACGGGTGATGGGCAGGGGGAGATGGGAGACCCCACGGGTGATGGGCGGGG GGAGATGGGAGCACCCCTGGGTGATGGGTAGGGGGAGATGGGAGACCCCC C	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02647.hp1 HG03453.hp2 others(1): Show HG02257.hp2 HG02647.hp1 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011	a0001c0001t0003 a0001c0003t0001 a0001c0004t0037 others(1): Show a0001c0001t0003 a0001c0003t0001 a0001c0004t0037 a0001c0011t0027	a0001c0001t0003g0261 a0001c0003t0001g0258 a0001c0004t0037g0062 others(1): Show a0001c0001t0003g0261 a0001c0003t0001g0258 a0001c0004t0037g0062 a0001c0011t0027g0064	4	380	0.0105	-100	c.14 others(111): Show c.1403_*1502delGGGGGGTCTCCCATCTCCCCCTACCCATCACCCA GGGGTGCTCCCATCTCCCCCCGCCCATCACCCGTGGGGTCTCCCATCTCC CCCTGCCCATCACCCG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		163		chr20	TogoVar
GFPT2_chr5_180295698_180358336	180296755	ACACACAC others(93): Show ACACACACACACACACACACAAGGAAGTACAACACACACGTAAGAAAGTA CACACACGGAAGTACTTACCCCCCCCCCCACACACACACGGAAGTACTTA C	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02735.hp2 HG02970.hp1 others(7): Show HG02486.hp2 HG02735.hp2 HG02970.hp1 HG03471.hp1 NA18944.hp1 NA18949.hp1 NA18964.hp1 NA18989.hp1 NA19065.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0005 others(2): Show a0001c0003 a0001c0004 a0001c0005 a0002c0002 a0002c0008	a0001c0003t0001 a0001c0004t0001 a0001c0004t0020 others(3): Show a0001c0003t0001 a0001c0004t0001 a0001c0004t0020 a0001c0005t0010 a0002c0002t0002 a0002c0008t0001	a0001c0003t0001g0277 a0001c0004t0001g0223 a0001c0004t0001g0225 others(7): Show a0001c0003t0001g0277 a0001c0004t0001g0223 a0001c0004t0001g0225 a0001c0004t0001g0229 a0001c0004t0020g0359 a0001c0005t0010g0360 a0001c0005t0010g0362 a0002c0002t0002g0286 a0002c0002t0002g0343 a0002c0008t0001g0228	10	410	0.0244	-100	c.47 others(111): Show c.4709_*4808delGTAAGTACTTCCGTGTGTGTGTGGGGGGGGGGGT AAGTACTTCCGTGTGTGTACTTTCTTACGTGTGTGTTGTACTTCCTTGTG TGTGTGTGTGTGTGTG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3942		chr5	TogoVar
GGACT_chr13_100525180_100593789	100550317	CACACACA others(93): Show CACACACACACACACACACACACACACACACACACACACCACTGGCCCTT CTAAGGAAACTGGATGCGCTGAATGAATTAAATCCGAGCCGATTATACTC T	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	374	0.0027	-100	c.-10 others(119): Show c.-10-17816_-10-17717delAGAGTATAATCGGCTCGGATTTAATT CATTCAGCGCATCCAGTTTCCTTAGAAGGGCCAGTGGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGT	GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2			chr13	TogoVar
GHR_chr5_42418439_42726878	42534210	ATATGTAT others(93): Show ATATGTATATATGTACATGTGTATATGTGTATATATGTATATATGTACAT GTGTATATGTGTATATATGTATATATGTACATGTGTATATGTGTATATAT G	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01169.hp2 others(13): Show HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01361.hp2 HG02055.hp2 HG02280.hp2 HG02572.hp1 HG02717.hp2 HG02886.hp2 HG03130.hp1 HG03516.hp1 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0008t0007 a0002c0002t0001 a0003c0005t0007	a0001c0001t0002g0137 a0001c0001t0004g0157 a0001c0001t0004g0180 others(13): Show a0001c0001t0002g0137 a0001c0001t0004g0157 a0001c0001t0004g0180 a0001c0001t0005g0067 a0001c0001t0005g0183 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0014g0060 a0001c0001t0015g0141 a0001c0008t0007g0083 a0001c0008t0007g0084 a0002c0002t0001g0158 a0002c0002t0001g0159 a0003c0005t0007g0085	16	208	0.0769	-100	c.-11 others(119): Show c.-11-31614_-11-31515delATATGTACATGTGTATATGTGTATAT ATGTATATATGTACATGTGTATATGTGTATATATGTATGTATATATGTAC ATGTGTATATGTGTATATATGTAT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar

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