Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC6A12_chr12_185081_219157	216161	TCTGGAGG others(183): Show TCTGGAGGCCAGAGACTCTCTAATGTTGAGCCCTTCCTCACTCAAGTTCT CCTAGCCTCCAAGACCCACTTGGTATTCAGACTGGTTAGTAAACTTCTGG AGGCCAGAGACTCTCTAATGTTGAGCCCTTCCTCACTCAAGTTCTCCTAG CCTCCAAGACCCACTTGGTGTTCAGACCGGTTAGTAAACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18979.hp1 NA18941.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0304 a0001c0001t0002g0306	2	418	0.0048	-190	c.-25 others(11): Show c.-2572_-2383del	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding		2005		chr12	TogoVar
SLC6A13_chr12_215622_267836	216054	AGTTAGTA others(183): Show AGTTAGTAAACTTCTGGAGGCCAGAGACTCTCTAATGTTGAGCCCTTCCT CACTCAAGTTCTCCTAGCCTCCAAGACCCACTTGGTATTCAGACCAGTTA GTAAACTTCTGGAGGCCAGAGACTCTCTAATGTTGAGCCCTTCCTCACTC AAGTTCTCCTAGCCTCCAAGACCCACTTGGTATTCAGACTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0109 a0002c0007t0001g0109	1	440	0.0023	-190	c.47 others(11): Show c.4704_*4893del	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding		4567		chr12	TogoVar
SLC6A13_chr12_215622_267836	216161	TCTGGAGG others(183): Show TCTGGAGGCCAGAGACTCTCTAATGTTGAGCCCTTCCTCACTCAAGTTCT CCTAGCCTCCAAGACCCACTTGGTATTCAGACTGGTTAGTAAACTTCTGG AGGCCAGAGACTCTCTAATGTTGAGCCCTTCCTCACTCAAGTTCTCCTAG CCTCCAAGACCCACTTGGTGTTCAGACCGGTTAGTAAACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18979.hp2 NA18941.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0038 a0001c0001t0001g0045	2	440	0.0045	-190	c.45 others(11): Show c.4597_*4786del	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding		4460		chr12	TogoVar
SMYD3_chr1_245744347_246512279	245962663	ACAGAGAC others(183): Show ACAGAGACCAAAAATCTTGTGCCAAGGTTTGACCTCAACAACCGCAAAAC CAATCATTGCTGTGTTGTTTCACTATGTTTCTAGAAACATCCATAGAGGA GAAACCAAAGTCGGCCTGAATACATGTTAATAGCTTTCACGGGCTTACTT CTGATATTTTAAACAGGCAACAAAAAAGAAAAACCAAGTTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01081.hp2 others(13): Show HG00544.hp2 HG00741.hp1 HG01081.hp2 HG01433.hp1 HG01934.hp1 HG02071.hp1 HG02132.hp1 HG03831.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18971.hp2 NA18984.hp2 NA19000.hp1 NA19088.hp1 NA19090.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0005c0013t0002	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0032 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0002g0030 a0001c0001t0002g0049 a0001c0001t0002g0059 a0001c0002t0001g0025 a0002c0003t0001g0101 a0002c0003t0001g0103 a0002c0003t0002g0102 a0002c0003t0002g0120 a0002c0004t0001g0132 a0005c0013t0002g0050	16	150	0.1067	-190	c.532 others(19): Show c.532-32916_532-32727del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1221867	CTCTCTCT others(183): Show CTCTCTCTCTCTCTGTCTCTGTCTGTGTCTCTCTCTGTCTCTGTCTCTGT CTCTCTCTGTCTCTCTCTGTCTCTGTCTGTCTCTGTCTCTGTCTCTCTCT GTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCT CTCTGTCTCTGCCTATCTCTGTCTCTCTCTGTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02630.hp2 HG02647.hp1	a0006 a0013 a0006 a0013	a0006c0009 a0013c0018 a0006c0009 a0013c0018	a0006c0009t0001 a0013c0018t0001 a0006c0009t0001 a0013c0018t0001	a0006c0009t0001g0048 a0013c0018t0001g0045 a0006c0009t0001g0048 a0013c0018t0001g0045	2	176	0.0114	-190	c.719 others(19): Show c.719+12643_719+12832del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS3_chr10_104636290_105270242	105091273	TTCCTTCC others(183): Show TTCCTTCCTTGCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCTTCCTTGCTTCCTTCCTTCGTTCCTTCCTTCCTTCCTCCCTCCCTCCC TCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCTTCCTTCCTTCCTTCGTTCCTTCCTTCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19043.hp2 HG02976.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0124 a0001c0002t0002g0053 a0001c0001t0001g0124 a0001c0002t0002g0053	2	134	0.0149	-190	c.109 others(19): Show c.1093+1438_1093+1627del	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPON1_chr11_13957723_14273133	14160459	ATATATAT others(183): Show ATATATATATTTATATATATATTTATATATATATATTTACATATATATAT TTATATATATATTTACATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTACATATATATATTTATATATATTT ATATATATTTATATATATATTTATATATATTTACATATATT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp1 HG02055.hp2 others(4): Show HG01192.hp2 HG02055.hp1 HG02055.hp2 HG02572.hp2 HG03225.hp2 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0016 a0001c0001t0001g0163 a0001c0001t0004g0223 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0163 a0001c0001t0004g0223 a0001c0002t0001g0023 a0001c0002t0003g0208 a0001c0002t0003g0221 a0001c0002t0003g0224	7	221	0.0317	-190	c.825 others(19): Show c.825+24899_825+25088del	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SRBD1_chr2_45383680_45616267	45414931	ACAGTGTT others(183): Show ACAGTGTTATATAGTATGTACATACACACACATATAGTGTGTATATAGTA TGTATATACACACATATAGTGTGTATATAGTATGTATATACACACATATA GTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAGTATGTA TATACACACATATAGTGTGTATATAGTATGTATATACACAC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02109.hp1 HG02559.hp1 others(6): Show HG01361.hp2 HG02109.hp1 HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG03139.hp1 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0001g0191 others(6): Show a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0229 a0001c0001t0001g0243	9	344	0.0262	-190	c.233 others(19): Show c.2334-1828_2334-1639del	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
STXBP5L_chr3_120903205_121429761	121127041	ATTAGAGT others(183): Show ATTAGAGTGTGGGTGTCTTTGGGAGTCCTTTATTCTTCCTACATCATCTC AGAACAATTAATTACTGATTTACCAAATCCCAGAAGTCCTCTAAAGTAGA TTTAAAGGAACTCCTACCTCATGTAGCTCTAGGGAAGACTGTGCTAAAAA TAGGCCCAGGAGCTGCTTATAAGGAGACCAAATACATAACT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19043.hp1 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0140 a0001c0001t0001g0143	2	288	0.0069	-190	c.669 others(17): Show c.669+5340_669+5529del	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAFA5_chr22_48484553_48756932	48497941	CGGGGCTG others(183): Show CGGGGCTGAAGAGTGGGGTGGGGCCCACCTGGAGGCGGGGCTGAAGAGTG GGGTGGGGCCCACCTGGAGGCGGGGCTGAAGAGTGGGCTGAGGGTAGGAG AGGCTGCAAGCCTAGGGGTGGGGCTGCAAGCCTGGGGGCGGGGCTGAAGG GGCAGGGCTGGGGGCCTGAAGGCGGGGCTGAAGAGTGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	200	0.0050	-190	c.112 others(17): Show c.112+8243_112+8432del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
THOC1_chr18_209520_273047	219077	AAAAATAA others(183): Show AAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAA AGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAA TAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGG TGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTAC	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19088.hp2 NA18939.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	366	0.0055	-190	c.137 others(17): Show c.1371-298_1371-109del	THOC1	ENSG00000079134.13	transcript	ENST00000261600.11	protein_coding	17/20			chr18	TogoVar
TMC6_chr17_78102397_78133755	78115656	CAGGGGCG others(183): Show CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0210 a0005c0004t0001g0210	1	442	0.0023	-190	c.227 others(19): Show c.2277+1423_2277+1612del	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM132D_chr12_129066726_129909025	129089095	GGGGTGTC others(183): Show GGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGTGTCCTCTATG ACCGGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGATGTCCTCCA TGACCGGGTGTCCTCTATGACCGGGTGTCCTCTATGACCGGGTGTCCTCC CTGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02451.hp1 HG03041.hp1 others(4): Show HG01433.hp2 HG02451.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03669.hp2 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0015 a0001c0001 a0001c0002 a0006c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0006c0015t0024	a0001c0001t0001g0010 a0001c0001t0004g0070 a0001c0001t0006g0007 others(4): Show a0001c0001t0001g0010 a0001c0001t0004g0070 a0001c0001t0006g0007 a0001c0001t0007g0016 a0001c0001t0010g0044 a0001c0002t0001g0023 a0006c0015t0024g0087	7	88	0.0795	-190	c.144 others(19): Show c.1444-4583_1444-4394del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM185A_chrX_149591556_149636792	149605281	ATGTCACT others(183): Show ATGTCACTTTCTATGGCCTCCCATGTCACTATGGCCTCCCATGTCACTTT CTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCTATAG CCTCCCATGTCACTTTCTATAGCCTCCCATGTCACTTTCTATGGCCTCCC ATGTCACTATGGCCTCCCATGTCACTTTCTATGGCCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	257	0.0039	-190	c.424 others(17): Show c.424-1401_424-1212del	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TMEM87B_chr2_112050269_112124314	112113787	TGTAGCAT others(183): Show TGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATA ACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAA GATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0023 a0001c0001t0028g0023	1	307	0.0033	-190	c.160 others(18): Show c.1608+934_1608+1123del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112114788	AAAGATTC others(183): Show AAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAA CTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAG AGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTAC AGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02145.hp1 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0115 a0002c0002t0004g0119 a0002c0002t0004g0115 a0002c0002t0004g0119	2	314	0.0064	-190	c.160 others(19): Show c.1609-1271_1609-1082del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TOX_chr8_58800412_59124147	58949858	TTTCATAT others(183): Show TTTCATATACACATATAATATACAATTACATGTGTATAGTTCATATACAC GTGTAATATACAATTACATGTGTATAGTTCATATACACGTGTAATATACA ATTACATGTGTATAGTTCATATACACGTGTAATATACAATTACATGTGTA TAGTTCATATACACGTGTAATATACAATTACATGTGTATAG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	222	0.0045	-190	c.168 others(18): Show c.168+9895_168+10084del	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	2/8			chr8	TogoVar
TOX_chr8_58800412_59124147	58949872	ATAATATA others(183): Show ATAATATACAATTACATGTGTATAGTTCATATACACGTGTAATATACAAT TACATGTGTATAGTTCATATACACGTGTAATATACAATTACATGTGTATA GTTCATATACACGTGTAATATACAATTACATGTGTATAGTTCATATACAC GTGTAATATACAATTACATGTGTATAGTTCATATACACGTG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	128	0.0078	-190	c.168 others(18): Show c.168+9881_168+10070del	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	2/8			chr8	TogoVar
TRIML1_chr4_188134441_188152743	188151856	GTGAGAAG others(183): Show GTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGGAGAGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	197	0.0051	-190	c.44 others(11): Show c.4485_*4674del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4114		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152019	TGGGGGTG others(183): Show TGGGGGTGAGAAGGGGAGGGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGA	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02074.hp1 HG02074.hp2 others(2): Show HG01346.hp1 HG02074.hp1 HG02074.hp2 HG03942.hp2 NA19011.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0008c0012t0001 a0001c0001t0001 a0008c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0044 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0075 a0008c0012t0001g0002	5	196	0.0255	-190	c.46 others(11): Show c.4647_*4836del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4276		chr4	TogoVar
TRPC6_chr11_101446564_101589007	101574521	AAAGGAAC others(183): Show AAAGGAACTTAAACAAATGTTTGTTGAAATAAATTAAGAATCTTTCCAGA TGGAATACAGTGTCTGGCCCTGAATGCCCCTCCAAGAAAAGGGTTCCTGC AGAAATCCCTCCCCTAGGTTAAGTGTGGGGATTTTCTTACTGCCCAGGAT CAGCTTTTTATAGCTGCTTCTGCCACCCTTCAATCTACTCT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02723.hp1 others(5): Show HG02109.hp1 HG02109.hp2 HG02723.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 a0001c0002 a0001c0003 a0001c0007	a0001c0002t0002 a0001c0003t0001 a0001c0007t0002 others(1): Show a0001c0002t0002 a0001c0003t0001 a0001c0007t0002 a0001c0007t0019	a0001c0002t0002g0121 a0001c0002t0002g0127 a0001c0003t0001g0123 others(5): Show a0001c0002t0002g0121 a0001c0002t0002g0127 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0007t0002g0122 a0001c0007t0002g0126 a0001c0007t0019g0164	8	250	0.0320	-190	c.170 others(17): Show c.170+8623_170+8812del	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TSPEAR_chr21_44492893_44716572	44504448	CAGTGGGG others(183): Show CAGTGGGGAAGCAAGGCTCTTGGAGGAGGCCGGCCTCGGTGAGCCCACAG TGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGG GGAAGCAAGTCTCTTGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGA AGCAAGTCTCTTGGAGGAGGCCGGCCTCGGTGAGCCCACAG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	292	0.0034	-190	c.185 others(17): Show c.1856+142_1856+331del	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	11/11			chr21	TogoVar
TUBB4A_chr19_6489319_6507309	6494502	CTGGGGTC others(183): Show CTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGT GAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAA ACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAG AGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA20129.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0027 a0001c0001t0024 a0001c0001t0027	a0001c0001t0024g0191 a0001c0001t0027g0192 a0001c0001t0024g0191 a0001c0001t0027g0192	2	426	0.0047	-190	c.47 others(9): Show c.472_*661del	TUBB4A	ENSG00000104833.12	transcript	ENST00000264071.7	protein_coding	4/4	472		chr19	TogoVar
TUBGCP5_chr15_22994177_23044569	23043729	GTGCCGGG others(183): Show GTGCCGGGGGGCGGGGGGAACTTCATAACCCCACCTGGCCAGAGTTGCTG GGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGCGGGGGATTTCA TAACCCCACCTGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTGGC CAGAGGTGCTAGGGGATATCATAATCACACCTGGCCAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02615.hp2 HG02647.hp2 HG01099.hp1 HG02615.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136	3	350	0.0086	-190	c.-43 others(11): Show c.-4376_-4187del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4161		chr15	TogoVar
ULK1_chr12_131889622_131928150	131917125	CGGAGGCT others(183): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTG TGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGCTCGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTTGGGGGGAGCTCG	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0155 a0002c0004t0002g0155	1	291	0.0034	-190	c.218 others(15): Show c.2182+65_2183-95del	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP14_chr18_153557_219629	219077	AAAAATAA others(183): Show AAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAA AGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAA TAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGG TGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA19088.hp1 NA18939.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	371	0.0054	-190	c.77 others(11): Show c.7794_*7983del	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding		4449		chr18	TogoVar
VAV2_chr9_133756894_133997324	133828262	GGCATCGC others(183): Show GGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCA TCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATC ACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGACCAC	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0012 a0001c0006t0002g0012	1	198	0.0051	-190	c.449 others(17): Show c.449+5820_449+6009del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VIPR2_chr7_159023175_159149867	159088856	AGCTCCTC others(183): Show AGCTCCTCATCTGGGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	28	0.0357	-190	c.357 others(19): Show c.357+14711_357+14900del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
YTHDC2_chr5_113508694_113600284	113586882	TATATAAT others(183): Show TATATAATATATAAATATATATTATGTATTCATATATAATATATAAATAT ATATTATGTATTCATATATAATATATAAATATATATTATGTATTCATATA TAATATATAAATATATATTATGTATTCATATATAATATATAAATATATAT TATGTATTCATATATAATATATAAATATATATTATGTATTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 NA18906.hp1 HG02896.hp2 HG02897.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0002 a0003c0003t0002g0034 a0003c0003t0002g0002 a0003c0003t0002g0034	3	306	0.0098	-190	c.382 others(19): Show c.3825+2409_3825+2598del	YTHDC2	ENSG00000047188.16	transcript	ENST00000161863.9	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZBTB42_chr14_104796101_104809712	104807882	GAGCACCC others(183): Show GAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	87	0.0115	-190	c.54 others(11): Show c.5417_*5606del	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3171		chr14	TogoVar
ZBTB42_chr14_104796101_104809712	104808274	ACTCCCCA others(183): Show ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0000 a0002c0002t0017g0000	1	97	0.0103	-190	c.58 others(11): Show c.5809_*5998del	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3563		chr14	TogoVar
ZC3H18_chr16_88565403_88636964	88629949	CTGTGCCC others(183): Show CTGTGCCCTGTGTGGCTGGTCTGGAACAGCCTTGCTGCCCTTGCCTGGGG TTGGAACCAGGGCCTCTGGGGTCCTGCGGACCTTTGTTCTCGCACCAGCC TTGGGCCTGCGCTGGGCAGTGGCCCCCCCCTCGGTTGCCGCGCCTCCCTC CTAACATTGCCAGAGTGAAACACTCCTAGTCTCTCGGCTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	376	0.0027	-190	c.256 others(17): Show c.2567-535_2567-346del	ZC3H18	ENSG00000158545.16	transcript	ENST00000301011.10	protein_coding	16/17			chr16	TogoVar
ZNF276_chr16_89716537_89745925	89745489	TCTGAGCT others(183): Show TCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGA ACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGA AGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACT CCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(253): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0016 a0017 a0018	a0001c0001 a0001c0005 a0001c0009 others(17): Show a0001c0001 a0001c0005 a0001c0009 a0001c0014 a0001c0016 a0001c0018 a0002c0002 a0002c0003 a0003c0004 a0004c0007 a0005c0008 a0006c0010 a0007c0011 a0008c0019 a0009c0024 a0012c0028 a0013c0027 a0016c0026 a0017c0030 a0018c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(42): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0001c0001t0049 a0001c0005t0001 a0001c0005t0013 a0001c0005t0039 a0001c0009t0001 a0001c0014t0001 a0001c0016t0001 a0001c0018t0001 a0002c0002t0001 a0002c0002t0004 a0002c0003t0044 a0003c0004t0001 a0003c0004t0004 a0004c0007t0001 a0004c0007t0042 a0004c0007t0048 a0005c0008t0001 a0005c0008t0054 a0006c0010t0001 a0007c0011t0001 a0007c0011t0004 a0008c0019t0001 a0009c0024t0018 a0012c0028t0004 a0013c0027t0001 a0016c0026t0001 a0017c0030t0001 a0018c0017t0008	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(187): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0004g0042 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0004g0157 a0001c0001t0004g0169 a0001c0001t0004g0191 a0001c0001t0004g0216 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0008g0008 a0001c0001t0008g0047 a0001c0001t0008g0190 a0001c0001t0012g0194 a0001c0001t0012g0289 a0001c0001t0012g0290 a0001c0001t0017g0159 a0001c0001t0017g0253 a0001c0001t0018g0214 a0001c0001t0021g0034 a0001c0001t0026g0277 a0001c0001t0027g0016 a0001c0001t0028g0203 a0001c0001t0034g0201 a0001c0001t0037g0196 a0001c0001t0038g0001 a0001c0001t0040g0230 a0001c0001t0041g0016 a0001c0001t0043g0271 a0001c0001t0047g0265 a0001c0001t0049g0143 a0001c0005t0001g0171 a0001c0005t0001g0172 a0001c0005t0001g0174 a0001c0005t0001g0175 a0001c0005t0001g0176 a0001c0005t0001g0279 a0001c0005t0013g0166 a0001c0005t0013g0167 a0001c0005t0013g0168 a0001c0005t0039g0163 a0001c0009t0001g0001 a0001c0009t0001g0003 a0001c0014t0001g0204 a0001c0016t0001g0046 a0001c0018t0001g0224 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0099 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0117 a0002c0002t0004g0109 a0002c0003t0044g0121 a0003c0004t0001g0002 a0003c0004t0001g0013 a0003c0004t0001g0014 a0003c0004t0001g0036 a0003c0004t0001g0149 a0003c0004t0001g0150 a0003c0004t0001g0151 a0003c0004t0001g0152 a0003c0004t0001g0153 a0003c0004t0004g0002 a0003c0004t0004g0013 a0003c0004t0004g0154 a0004c0007t0001g0003 a0004c0007t0001g0051 a0004c0007t0001g0177 a0004c0007t0001g0246 a0004c0007t0001g0247 a0004c0007t0042g0179 a0004c0007t0048g0263 a0005c0008t0001g0048 a0005c0008t0001g0220 a0005c0008t0001g0234 a0005c0008t0054g0278 a0006c0010t0001g0002 a0006c0010t0001g0248 a0007c0011t0001g0197 a0007c0011t0001g0198 a0007c0011t0004g0041 a0008c0019t0001g0264 a0009c0024t0018g0202 a0012c0028t0004g0173 a0013c0027t0001g0025 a0016c0026t0001g0148 a0017c0030t0001g0001 a0018c0017t0008g0251	256	416	0.6154	-190	c.72 others(11): Show c.7244_*7433del	ZNF276	ENSG00000158805.12	transcript	ENST00000443381.7	protein_coding		4565		chr16	TogoVar
ZNF469_chr16_88377959_88445753	88380922	ACACAGAC others(183): Show ACACAGACACGCACTCACACACAGACACGCCCTCACACACAGACATGCAC TCACACATATGCACTCACACAGACATGCACTCACACACATGCGCTCACAG ACATGCACTCACACACATGCACTCACACAGACACGCTCTCACACACAGGC ATGCACTCACACACGCACTCACACACCCGGACATGCACTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG03209.hp2 NA19240.hp2 HG02486.hp2 HG03209.hp2 NA19240.hp2	a0076 a0097 a0126 a0076 a0097 a0126	a0076c0070 a0097c0068 a0126c0073 a0076c0070 a0097c0068 a0126c0073	a0076c0070t0041 a0097c0068t0001 a0126c0073t0003 a0076c0070t0041 a0097c0068t0001 a0126c0073t0003	a0076c0070t0041g0214 a0097c0068t0001g0103 a0126c0073t0003g0093 a0076c0070t0041g0214 a0097c0068t0001g0103 a0126c0073t0003g0093	3	350	0.0086	-190	c.-25 others(11): Show c.-2523_-2334del	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding		2036		chr16	TogoVar
ABHD12B_chr14_50867053_50909970	50894048	GTCCTTCA others(182): Show GTCCTTCACCCTTAGCGGCAAGTCCCGCTTTTCTGGGGAAGGGGCAAGTA CCCCAACCCCTTCTCTCCTTGTCTCTACCCCTTCTCTGCTCTTCTGGGGG AGGGGCAAGTACCCCTCAACCCCTTCTCCTTCATCCTTAGTGGCAAGTCC CGCTTTCCTGGGGCAGGGGCAAGTACCCCTCAACCCCTTC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02630.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0153 a0002c0002t0005g0245 a0002c0002t0005g0153 a0002c0002t0005g0245	2	374	0.0053	-189	c.780 others(17): Show c.780+5176_780+5364del	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ACOT7_chr1_6259272_6398767	6398578	TCGTGCTC others(182): Show TCGTGCTCCAGCCTCCAGAGTAGCTGGAATTACAGGCCCCCACCACCACA CTCAGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGC CAGGCTGGTCTTGAACTCGCGATCTCAGGTGATCTGTCCGCCTTGGCCTC CCAAAGTCCTGGGATTACAGGCATGAGCCACTGCACCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02451.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0096 a0001c0001t0001g0011 a0001c0001t0001g0096	2	238	0.0084	-189	c.-53 others(11): Show c.-5368_-5180del	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding		4812		chr1	TogoVar
ACTR3C_chr7_150242212_150328545	150244067	GTATAGTC others(182): Show GTATAGTCTTAGAATATTGAATATTCAATATAGTCTTAGAATATTGAATA TTCAATATAGTCTTAGAATATTGAATATTCAATATAGTCTTAGAATATTG AATATTCAATATAGTCTTAGAATATTGAATATTCAATATAGTCTTAGAAT ATTGAATATTCAATATAGTCTTAGAATATTGAATATTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02055.hp2 HG02109.hp1 others(21): Show HG01952.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02572.hp2 HG02622.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0006	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0201 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0268 a0001c0001t0005g0186 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0044 a0002c0002t0001g0117 a0002c0002t0001g0123 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0178 a0002c0002t0001g0221 a0002c0002t0001g0269 a0002c0002t0006g0286	24	217	0.1106	-189	c.33 others(11): Show c.3352_*3540del	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding		3144		chr7	TogoVar
ADARB2_chr10_1172313_1742525	1238523	CTCCCGGT others(182): Show CTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0008 a0002c0014t0008	a0002c0014t0008g0060 a0002c0014t0008g0060	1	103	0.0097	-189	c.136 others(19): Show c.1361+3419_1361+3607del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1593017	ACCCAAGC others(182): Show ACCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCA CCCAGCTTCCCTCGCCCACGCCACCCTCCATAGGTCTCCTCTCTGGCATG GTCCCCTCTGTCACCCAGCTCCCTTCACCCAAGCCACGCTCCATCGGTCT CCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTCCCTTCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02622.hp2 others(2): Show HG02258.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG03540.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0013 a0001c0001 a0001c0003 a0007c0013	a0001c0001t0001 a0001c0001t0051 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0051 a0001c0003t0001 a0001c0003t0039 a0007c0013t0020	a0001c0001t0001g0045 a0001c0001t0051g0051 a0001c0003t0001g0052 others(2): Show a0001c0001t0001g0045 a0001c0001t0051g0051 a0001c0003t0001g0052 a0001c0003t0039g0044 a0007c0013t0020g0037	5	90	0.0556	-189	c.100 others(21): Show c.100+143845_100+144033del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ANAPC10_chr4_144989576_145103196	145038815	CTGTCTCA others(182): Show CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTAACTAAGGCAA AACCTATAAGAAGCAGGCAACAAATTCAACAGATACTTCTGATGACGAGA CATCACTTTCTACAGAGAAAAATAGGTCACATGCAAAGCATCAGAAATCA AAAGTGGCATTGTATTTCTCAACATTTACAATAAAAACAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01123.hp1 HG03688.hp1 others(9): Show HG01069.hp2 HG01123.hp1 HG03688.hp1 HG03927.hp1 NA18945.hp2 NA18950.hp2 NA18963.hp2 NA18999.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0001t0001g0048 others(9): Show a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0097	12	334	0.0359	-189	c.327 others(19): Show c.327+25568_327+25756del	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ATP9B_chr18_79064394_79383283	79145131	CGGCGGTG others(182): Show CGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGAGCTGGCG GTGTGCAGAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCAGT GTGGAGAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGT GCAGAGTGACTGAAGGTCCAGGCTGCATGTCGGGGTTGCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0113 a0001c0004t0003g0113	1	296	0.0034	-189	c.726 others(17): Show c.726+1313_726+1501del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BCAS3_chr17_60672851_61397831	61045880	TATATTAT others(182): Show TATATTATATATATAATATATATAAATATATATTTATATATATAATATAT ATAAATATATATATTATATATATAAATATATATATAATATATATATATTA TATATATATTTATATATATATAATATATATATTTATATATATATTATATA TATATTTATATATATATAATATATATATTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18951.hp2 HG02083.hp2 NA18951.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0001 a0002c0003 a0003c0001	a0002c0003t0001 a0003c0001t0001 a0002c0003t0001 a0003c0001t0001	a0002c0003t0001g0040 a0003c0001t0001g0011 a0002c0003t0001g0040 a0003c0001t0001g0011	2	74	0.0270	-189	c.202 others(19): Show c.2029+4993_2029+5181del	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
C2CD4C_chr19_400445_414147	404223	GGGGGACG others(182): Show GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGTCCT GAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGGTGTGGGGGGG ACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGA GGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0079 a0001c0001t0099g0079	1	316	0.0032	-189	c.26 others(11): Show c.2684_*2872del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1221		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922011	TCCCCAGG others(182): Show TCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGG AGTTGCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGCCTGGTCATTG GTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGT CATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp1 HG01168.hp2 others(8): Show HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01261.hp2 HG01978.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02559.hp1 NA18953.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0171 a0001c0001t0001g0187 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0275 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0330 a0001c0001t0001g0335 a0001c0001t0001g0337	11	341	0.0323	-189	c.424 others(17): Show c.424+6520_424+6708del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923252	GTCCCAGG others(182): Show GTCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTCATTGGTGG AGTTGACTCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGG TGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTA TTGGTGGAGTTGTCCCCAGGTCTGGTATTGGTGGAGTTGT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	364	0.0027	-189	c.424 others(17): Show c.424+7748_424+7936del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CADM2_chr3_84953989_86079429	85769001	TAGTATAT others(182): Show TAGTATATATACACATATATACATATATAGTATATATACACATATATACA TATATAGTATATATACACATATATACATATATAGTATATATACACATATA TACATATATGTATATATACACATATATACATATATAGTATATATACACAT ATATACATATATAGTATATATACACATATATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	141	0.0071	-189	c.89- others(17): Show c.89-33045_89-32857del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9			chr3	TogoVar
CBFA2T3_chr16_88869858_88982207	88933252	GCACGCCT others(182): Show GCACGCCTCACAGTGCCACACGTCTGCACGCCTCTGCACACGTCACGTGC CTCTATACGCCTCACACGCCTCACAGTGCCACACGTCTGCACGCCTCTGC ACACGTCACGTGCCTCTATACGCCTCACACGCCTCACAGTGCCACACGTC TGCACGCCTCTGCACACGTCACGTGCCTCTATACGCCTCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02896.hp2 HG02965.hp1 others(1): Show HG01167.hp2 HG02896.hp2 HG02965.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0035 a0001c0001t0001g0241 a0001c0002t0005g0006 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0241 a0001c0002t0005g0006 a0001c0002t0005g0240	4	29	0.1379	-189	c.152 others(19): Show c.152-31785_152-31597del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCNF_chr16_2424447_2463854	2442465	TTATTATA others(182): Show TTATTATATATAATATATAATATTATATAATATAATATTATTATATATAA TATATAATATTATATAATATAATATTATTATATATAATATATAATATTAT ATAATATAATATTATTATATATAATATATAATATTATATAATATAATATT ATATATAATATATAATATTATATAATATAATATTATTATA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA19087.hp1 HG03017.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0084 a0001c0001t0001g0088	2	274	0.0073	-189	c.778 others(16): Show c.778-1180_778-992del	CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH4_chr20_61247261_61945617	61783674	TTGTGCCC others(182): Show TTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCCGG GCCCTCAGATGTCCTGTGCCCCCGGGAGAAATGTAAGCCTAGTTCCTCGG GACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAAT CCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0047 a0001c0007t0047	a0001c0007t0047g0065 a0001c0007t0047g0065	1	105	0.0095	-189	c.576 others(19): Show c.576+10539_576+10727del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP54_chr12_96484577_96880555	96827127	ATTATATG others(182): Show ATTATATGTGATTATATATAATGTGCAATTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATAT AATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTAT ATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03704.hp2 HG02622.hp1 HG03704.hp2	a0001 a0041 a0001 a0041	a0001c0001 a0041c0084 a0001c0001 a0041c0084	a0001c0001t0001 a0041c0084t0001 a0001c0001t0001 a0041c0084t0001	a0001c0001t0001g0084 a0041c0084t0001g0124 a0001c0001t0001g0084 a0041c0084t0001g0124	2	245	0.0082	-189	c.909 others(19): Show c.9097-1867_9097-1679del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar

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