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
ZC3H12D_chr6_149441795_149490014	149444195	CCACCCAG others(119): Show CCACCCAGTGTCAGTCAGCCAGTGTGTCAGCCACTGTCAGCCAATGTCAG CCAGTGTGTCAGCCAGCCAGTGTCAGCCAGTGTTAGTCAGCCAGTGTGTC AGTCAGCCAGTGTCAGCCAGTGTCAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	412	0.0024	-126	c.63 others(11): Show c.6362_*6487del	ZC3H12D	ENSG00000178199.14	transcript	ENST00000409806.8	protein_coding		2599		chr6	TogoVar
ZFAND2A_chr7_1147907_1165196	1156111	CCGCCCAG others(119): Show CCGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACT GCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCC GAAGGGGTGGACCGCCCAGCAGCTGAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	432	0.0023	-126	c.151 others(15): Show c.151-653_151-528del	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4			chr7	TogoVar
ZFAND2A_chr7_1147907_1165196	1156112	CGCCCAGC others(119): Show CGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACTG CCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCG AAGGGGTGGACCGCCCAGCAGCTGAAG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01928.hp1 HG01943.hp1 others(42): Show HG00597.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01993.hp1 HG02071.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02965.hp1 HG03579.hp1 HG03704.hp2 HG04204.hp1 NA18522.hp2 NA18941.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp2 NA18959.hp1 NA18964.hp1 NA18968.hp2 NA18975.hp2 NA18978.hp2 NA18983.hp1 NA18985.hp1 NA18987.hp2 NA18992.hp2 NA18997.hp1 NA19003.hp1 NA19007.hp1 NA19030.hp2 NA19057.hp2 NA19066.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0002c0003t0004	a0001c0001t0002g0004 a0001c0001t0002g0022 a0001c0001t0002g0024 others(12): Show a0001c0001t0002g0004 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0096 a0001c0001t0006g0039 a0001c0001t0008g0059 a0002c0003t0004g0078	45	432	0.1042	-126	c.151 others(15): Show c.151-654_151-529del	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4			chr7	TogoVar
ZFAND2A_chr7_1147907_1165196	1156160	TGCCCAGC others(119): Show TGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTC CGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCT GAGCTGGGGGCTCCGAAGGGGTGGACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00741.hp1 others(27): Show HG00099.hp1 HG00597.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01258.hp2 HG01261.hp2 HG01928.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03688.hp2 HG04184.hp2 HG06807.hp2 NA18906.hp2 NA18970.hp1 NA18975.hp1 NA18978.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0042 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0012g0155 a0001c0002t0002g0073 a0001c0002t0004g0020 a0001c0002t0004g0085 a0001c0002t0004g0099	30	432	0.0694	-126	c.151 others(15): Show c.151-702_151-577del	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4			chr7	TogoVar
ZNF100_chr19_21717771_21772579	21721803	CGCCCGGC others(119): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCT GCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGACCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0203 a0002c0001t0001g0203	1	365	0.0027	-126	c.47 others(11): Show c.4754_*4879del	ZNF100	ENSG00000197020.12	transcript	ENST00000358296.11	protein_coding		967		chr19	TogoVar
ZNF516_chr18_76352682_76500242	76464566	GGGCCTCC others(119): Show GGGCCTCCCTGGCACCCCCAGCCTGGCCATTTCAGATGGGGACAGTGGCC TCCTGGACTTGCAGGGCCTCTCTGGCACCCCCAGCCTTGTCATTTCAGAC GGGGACAGTGGCCTCCTGGACTTGCAA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0075 a0001c0001t0124g0075	1	346	0.0029	-126	c.-27 others(19): Show c.-271-1551_-271-1426del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	1/6			chr18	TogoVar
ZNF723_chr19_22827291_22863667	22862490	TATGTAAT others(119): Show TATGTAATATAATATATATATTATATATGTAATATAATATATAATATATG TAATATAATATATATTATATATGTAATATAATATATATTATATATGTAAT ATAATATATATTATATATGTAATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0237 a0002c0002t0002g0237	1	364	0.0028	-126	c.40 others(11): Show c.4058_*4183del	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3824		chr19	TogoVar
ZNF787_chr19_56082366_56126295	56103815	ACCGACCC others(119): Show ACCGACCCGTGCCACGCACCGGGAGGGTCTCTACGCACGACACCGCCGAC CCGTGCCACGCACCGGGAGGGTCCCTACGCACGCCGCCGACCCGTGCCAC GCACCGGGAGGGTCCCTACGCACGCCG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0303 a0001c0001t0021g0303	1	410	0.0024	-126	c.-10 others(15): Show c.-10-714_-10-589del	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ABCC1_chr16_15944616_16148053	16003672	ATGGATGG others(118): Show ATGGATGGATGGATGGGTGAATGAATTGGTAGGTGGGTAGGGTGGATGGG TGAATTGGTGGATGGGTAGGTGGATGTATAAATGAATTGGTGGGTGGGTG GATGGATGGATGAACTGGTGGGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01261.hp2 HG01516.hp1 others(5): Show HG00544.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG01993.hp2 HG02300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0014	a0001c0001t0007 a0001c0002t0003 a0001c0005t0002 others(4): Show a0001c0001t0007 a0001c0002t0003 a0001c0005t0002 a0001c0005t0003 a0001c0005t0022 a0001c0006t0002 a0001c0014t0007	a0001c0001t0007g0245 a0001c0002t0003g0014 a0001c0005t0002g0064 others(5): Show a0001c0001t0007g0245 a0001c0002t0003g0014 a0001c0005t0002g0064 a0001c0005t0002g0074 a0001c0005t0003g0153 a0001c0005t0022g0243 a0001c0006t0002g0244 a0001c0014t0007g0154	8	249	0.0321	-125	c.49- others(15): Show c.49-4084_49-3960del	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16003804	GATGGATG others(118): Show GATGGATGGGTGAATGAATTGGTAGGTGGGTAGGGTGGATGGGTGAATTG GTGAATGGGTAGGTGGATGGATGAATGAATTGGTGGGTGGGTGGATGGGT GGATGAATTGGTAGGTGGGTAGCTGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp1 HG02896.hp1 others(4): Show HG02258.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0037 a0001c0001 a0001c0037	a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0037t0012	a0001c0001t0004g0166 a0001c0001t0004g0240 a0001c0001t0006g0167 others(4): Show a0001c0001t0004g0166 a0001c0001t0004g0240 a0001c0001t0006g0167 a0001c0001t0006g0220 a0001c0001t0010g0042 a0001c0001t0010g0043 a0001c0037t0012g0041	7	249	0.0281	-125	c.49- others(15): Show c.49-4004_49-3880del	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABR_chr17_998519_1184981	1054538	AGAACCTG others(118): Show AGAACCTGAGGGGACGGGGGCACAAAGAACCTGAGGGGATGGGGGCACAA GGAACCTGAGGGGATGGGGGCACAAGGAACCTCAGGGGATGTGGGCACAA GGAACCTCAGGGGATGGGGGCACAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00738.hp1 others(13): Show HG00323.hp2 HG00642.hp1 HG00738.hp1 HG01358.hp1 HG01978.hp1 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02965.hp1 HG03098.hp2 HG06807.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0031 a0001c0001t0058 a0001c0001t0075 a0001c0002t0012 a0001c0002t0038 a0001c0004t0037	a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0071 others(13): Show a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0002g0085 a0001c0001t0003g0060 a0001c0001t0006g0216 a0001c0001t0008g0024 a0001c0001t0008g0033 a0001c0001t0011g0167 a0001c0001t0031g0241 a0001c0001t0058g0076 a0001c0001t0075g0156 a0001c0002t0012g0244 a0001c0002t0038g0013 a0001c0004t0037g0017	16	337	0.0475	-125	c.156 others(19): Show c.1561+1372_1561+1496del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1054570	GAGGGGAT others(118): Show GAGGGGATGGGGGCACAAGGAACCTGAGGGGATGGGGGCACAAGGAACCT CAGGGGATGTGGGCACAAGGAACCTCAGGGGATGGGGGCACAAGGAACCT GAGGGGATGGGGGCACAAGGAACCTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00597.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02080.hp2 HG02273.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03688.hp2 HG03927.hp1 HG04228.hp1 NA18944.hp1 NA18954.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA19002.hp2 NA19005.hp2 NA19070.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0032 a0001c0001t0049 a0001c0001t0065 a0001c0001t0082 a0001c0001t0088 a0001c0003t0012 a0001c0003t0016 a0001c0003t0080 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0089 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0003g0062 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0117 a0001c0001t0003g0168 a0001c0001t0003g0222 a0001c0001t0004g0258 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0254 a0001c0001t0005g0277 a0001c0001t0005g0318 a0001c0001t0006g0086 a0001c0001t0006g0096 a0001c0001t0007g0306 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0008g0042 a0001c0001t0011g0125 a0001c0001t0013g0028 a0001c0001t0019g0057 a0001c0001t0020g0161 a0001c0001t0022g0047 a0001c0001t0032g0259 a0001c0001t0049g0193 a0001c0001t0065g0137 a0001c0001t0082g0302 a0001c0001t0088g0299 a0001c0003t0012g0105 a0001c0003t0012g0119 a0001c0003t0016g0218 a0001c0003t0016g0229 a0001c0003t0080g0287 a0001c0010t0001g0139	48	337	0.1424	-125	c.156 others(19): Show c.1561+1340_1561+1464del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ADARB2_chr10_1172313_1742525	1239110	CCCCTCTG others(118): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACTCCCC TCTCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0101 a0002c0002t0004g0101	1	106	0.0094	-125	c.136 others(19): Show c.1361+2896_1361+3020del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGO2_chr8_140515156_140640633	140604690	GGTGGCGG others(118): Show GGTGGCGGGTGCCTGTAGTCCCAGCTACATGGGGGGCTGAGGCAGGAGAA TGGAGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGGTCGCGCCACT GCACTCCAGCCTGGGCGACAGAGCGA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18948.hp1 NA18971.hp1 others(5): Show HG03831.hp1 NA18948.hp1 NA18971.hp1 NA18991.hp2 NA19003.hp1 NA19060.hp2 NA19084.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0082 a0001c0002t0004 a0001c0003t0008 a0001c0004t0005	a0001c0001t0001g0049 a0001c0001t0003g0024 a0001c0001t0003g0054 others(5): Show a0001c0001t0001g0049 a0001c0001t0003g0024 a0001c0001t0003g0054 a0001c0001t0015g0038 a0001c0001t0082g0037 a0001c0002t0004g0021 a0001c0003t0008g0013 a0001c0004t0005g0061	8	338	0.0237	-125	c.23- others(17): Show c.23-19504_23-19380del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AHDC1_chr1_27529245_27609144	27608861	TGTGTGTG others(118): Show TGTGTGTGTGTGTGTGTGTGTGTCTTCGATACTGTACCTGGGGTGTGTGT GTGTGTGTGTGTGTGTGTCTTCAATACTGTACCTGGGGTATGTGTGTGTG TGTGTGTCTTCGATACTGTACCTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	180	0.0056	-125	c.-57 others(11): Show c.-5743_-5619del	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding		4718		chr1	TogoVar
ANGPT1_chr8_107244482_107502918	107368450	GTATTCCT others(118): Show GTATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp1 NA18522.hp1 HG02818.hp1 HG02896.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183	3	292	0.0103	-125	c.298 others(19): Show c.298-21478_298-21354del	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANKRD6_chr6_89428152_89638821	89607821	CATTTTTA others(118): Show CATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAA CTCCTGACCCCGTGATCTGCCCGCCTCAGCCTCCTAAGTATCTGGGCATG TGCCCCCACGCCTGGCTAATTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp1 others(47): Show HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01243.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01993.hp2 HG02129.hp1 HG02293.hp1 HG02615.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18997.hp1 NA19006.hp1 NA19043.hp2 NA19063.hp2 NA19070.hp1 NA19077.hp1 NA19086.hp1 NA19091.hp1 NA20905.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0001 a0003c0008 a0003c0010 others(7): Show a0002c0001 a0003c0008 a0003c0010 a0003c0013 a0003c0015 a0003c0020 a0004c0004 a0005c0006 a0005c0014 a0005c0019	a0002c0001t0001 a0003c0008t0003 a0003c0008t0004 others(13): Show a0002c0001t0001 a0003c0008t0003 a0003c0008t0004 a0003c0008t0005 a0003c0010t0005 a0003c0010t0016 a0003c0013t0001 a0003c0015t0002 a0003c0020t0013 a0004c0004t0004 a0005c0006t0003 a0005c0006t0007 a0005c0006t0014 a0005c0006t0018 a0005c0014t0001 a0005c0019t0002	a0002c0001t0001g0219 a0003c0008t0003g0103 a0003c0008t0003g0251 others(47): Show a0002c0001t0001g0219 a0003c0008t0003g0103 a0003c0008t0003g0251 a0003c0008t0003g0252 a0003c0008t0003g0261 a0003c0008t0004g0125 a0003c0008t0004g0182 a0003c0008t0005g0101 a0003c0010t0005g0006 a0003c0010t0005g0046 a0003c0010t0005g0083 a0003c0010t0005g0097 a0003c0010t0016g0047 a0003c0013t0001g0254 a0003c0015t0002g0191 a0003c0020t0013g0045 a0004c0004t0004g0002 a0004c0004t0004g0017 a0004c0004t0004g0027 a0004c0004t0004g0038 a0004c0004t0004g0080 a0004c0004t0004g0122 a0004c0004t0004g0123 a0004c0004t0004g0124 a0004c0004t0004g0171 a0004c0004t0004g0256 a0004c0004t0004g0257 a0004c0004t0004g0258 a0004c0004t0004g0259 a0004c0004t0004g0260 a0004c0004t0004g0263 a0004c0004t0004g0265 a0004c0004t0004g0269 a0005c0006t0003g0028 a0005c0006t0003g0102 a0005c0006t0003g0180 a0005c0006t0003g0197 a0005c0006t0003g0198 a0005c0006t0003g0250 a0005c0006t0007g0098 a0005c0006t0007g0099 a0005c0006t0007g0100 a0005c0006t0007g0104 a0005c0006t0014g0203 a0005c0006t0018g0204 a0005c0014t0001g0176 a0005c0014t0001g0177 a0005c0014t0001g0196 a0005c0019t0002g0207 a0005c0019t0002g0208	50	270	0.1852	-125	c.417 others(17): Show c.417+1788_417+1912del	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANO7_chr2_241183677_241230976	241210775	GCTCAAGG others(118): Show GCTCAAGGGATCCTCCTGCCTCAGCCTCCTCAGTACCTGGACCACTGTGC CCAGCTGAAATTTTTTTTTTTTTTGATAGAGACAGGGGTCTCACTGTGTG GCTCAGGCTGGTCTCGAGCTCCTGGC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp2 HG03130.hp1 HG02630.hp2 HG02818.hp2 HG03130.hp1	a0001 a0013 a0001 a0013	a0001c0003 a0013c0040 a0001c0003 a0013c0040	a0001c0003t0019 a0013c0040t0001 a0001c0003t0019 a0013c0040t0001	a0001c0003t0019g0013 a0013c0040t0001g0096 a0001c0003t0019g0013 a0013c0040t0001g0096	3	396	0.0076	-125	c.156 others(17): Show c.1561+226_1561+350del	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA2_chr15_60342151_60402986	60366815	GGTCGGCC others(118): Show GGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGACCCCTCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00558.hp2 others(55): Show HG00099.hp1 HG00140.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG00738.hp2 HG01071.hp1 HG01074.hp2 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01433.hp2 HG01496.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02129.hp2 HG02148.hp1 HG02293.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG04199.hp2 NA18747.hp1 NA18949.hp2 NA18951.hp1 NA18982.hp2 NA19009.hp1 NA19054.hp1 NA19064.hp1 NA19065.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0002t0006 a0003c0004t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0028 others(55): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0305 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0003g0196 a0001c0001t0003g0279 a0001c0003t0001g0127 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0184 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0313 a0002c0002t0001g0321 a0002c0002t0006g0326 a0003c0004t0001g0036 a0003c0004t0001g0254	58	334	0.1737	-125	c.149 others(17): Show c.149-2417_149-2293del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60366847	GGGGGGGT others(118): Show GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02738.hp2 HG02886.hp1 others(1): Show HG00597.hp1 HG02738.hp2 HG02886.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0251 a0001c0001t0001g0263 others(1): Show a0001c0001t0001g0107 a0001c0001t0001g0251 a0001c0001t0001g0263 a0001c0001t0001g0317	4	334	0.0120	-125	c.149 others(17): Show c.149-2449_149-2325del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ARHGAP39_chr8_144524179_144690846	144531235	AAGGGCAC others(118): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAG ACATAGCAGGCACGGCAGAAGGGCAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp2 NA18522.hp1 HG02486.hp1 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0007g0168 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0007g0168	3	246	0.0122	-125	c.298 others(17): Show c.2981-489_2981-365del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531294	AAGGGCAC others(118): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAC	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18980.hp2 HG02132.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0038 a0001c0002t0001g0041	2	246	0.0081	-125	c.298 others(17): Show c.2981-548_2981-424del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531353	AAGGGCAC others(118): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAC	A A	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	246	0.0041	-125	c.298 others(17): Show c.2981-607_2981-483del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP8_chr22_44747575_44867784	44800978	GTGTGTGG others(118): Show GTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCT CTCCCCGCAGCTGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGA GGGGCACCTCTCCCCGCAGCTGTCCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0017 a0017	a0017c0067 a0017c0067	a0017c0067t0001 a0017c0067t0001	a0017c0067t0001g0281 a0017c0067t0001g0281	1	390	0.0026	-125	c.80- others(14): Show c.80-1087_80-963del	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARL6IP5_chr3_69079937_69111092	69110267	TCACCCAG others(118): Show TCACCCAGGCTGGAGTGGAGTGGCATGATCCCGGCTCAAGACAACCTCTG CCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGA CTACAGGTGCATGCCACCACGCCCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0128	1	434	0.0023	-125	c.56 others(11): Show c.5632_*5756del	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4176		chr3	TogoVar
ARMT1_chr6_151447466_151475101	151450361	GGTCAGCC others(118): Show GGTCAGCCCCCGCCAGGCCAGCCACCCCATCCGGGAGGGAGGTGGGGGTC AGCCCCCCGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGGCCA GCCCCCGTCCGGGAGGAAGGTGGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	418	0.0024	-125	c.-21 others(11): Show c.-2184_-2060del	ARMT1	ENSG00000146476.11	transcript	ENST00000367294.4	protein_coding		2104		chr6	TogoVar
ASAP1_chr8_130047104_130448674	130049205	TGGGGGGC others(118): Show TGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACATATGGGGGGCA GAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAC ACATGGGGGGCAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02723.hp1 HG03195.hp2 HG01496.hp2 HG02723.hp1 HG03195.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0012 a0004c0012t0027 a0001c0001t0012 a0004c0012t0027	a0001c0001t0012g0296 a0001c0001t0012g0298 a0004c0012t0027g0233 a0001c0001t0012g0296 a0001c0001t0012g0298 a0004c0012t0027g0233	3	308	0.0097	-125	c.54 others(11): Show c.5401_*5525del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2898		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049619	TGGGGGGC others(118): Show TGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCA GAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAAC ACATGGAGGGCAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	308	0.0033	-125	c.49 others(11): Show c.4987_*5111del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2484		chr8	TogoVar
BNC2_chr9_16404503_16875670	16847395	TCGGGGCG others(118): Show TCGGGGCGGGGGGGGGGGGGCGGCGGGCAACAACCCTGAAGCTTTCACTG AGCCTACATTACAAATTAAGGAAGTTGACTTTATAAAATTCATTTGGTTA AAAAGGAAAAAAGAATTGACCAAACA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01123.hp1 others(33): Show HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02897.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18943.hp1 NA18962.hp1 NA18963.hp2 NA18968.hp2 NA18982.hp2 NA18991.hp2 NA19002.hp2 NA19030.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0011	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0002c0003 a0008c0013 a0011c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0039 a0001c0001t0062 a0001c0001t0075 a0001c0001t0083 a0001c0001t0088 a0001c0001t0089 a0001c0001t0091 a0001c0001t0101 a0001c0001t0102 a0001c0001t0106 a0001c0001t0109 a0001c0002t0006 a0001c0005t0030 a0001c0005t0073 a0001c0011t0082 a0002c0003t0069 a0008c0013t0103 a0011c0019t0076	a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0029 others(33): Show a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0003g0016 a0001c0001t0004g0054 a0001c0001t0009g0036 a0001c0001t0011g0039 a0001c0001t0014g0032 a0001c0001t0014g0041 a0001c0001t0015g0052 a0001c0001t0019g0017 a0001c0001t0021g0064 a0001c0001t0022g0022 a0001c0001t0024g0018 a0001c0001t0025g0027 a0001c0001t0028g0033 a0001c0001t0039g0026 a0001c0001t0062g0020 a0001c0001t0075g0042 a0001c0001t0083g0004 a0001c0001t0088g0093 a0001c0001t0089g0030 a0001c0001t0091g0028 a0001c0001t0101g0040 a0001c0001t0102g0001 a0001c0001t0106g0034 a0001c0001t0109g0023 a0001c0002t0006g0025 a0001c0005t0030g0051 a0001c0005t0073g0037 a0001c0011t0082g0035 a0002c0003t0069g0043 a0008c0013t0103g0019 a0011c0019t0076g0003	36	176	0.2046	-125	c.3+2 others(15): Show c.3+23126_3+23250del	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BRDT_chr1_91944401_92019421	91962197	AGGCTAAG others(118): Show AGGCTAAGGCATATATAGTGAAACTTTTACTATTTGTATATAAAAAATTT GTATTTGTTTAAAAATTGATTCCTTTGCCATTTGGCTTTTTTTTTTTTTC ATCCTGTCTTAATCATGATGTGCTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG01891.hp1 HG02109.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0122 a0004c0004t0002g0135 a0004c0004t0002g0122 a0004c0004t0002g0135	2	318	0.0063	-125	c.-37 others(15): Show c.-37-520_-37-396del	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18			chr1	TogoVar
C2CD4C_chr19_400445_414147	404577	GGACGGGG others(118): Show GGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGGGTCCTGCCCTG AGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGG ACGGGTCCTGCCCCGAGGGGTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0073 a0003c0005t0073	a0003c0005t0073g0175 a0003c0005t0073g0175	1	322	0.0031	-125	c.23 others(11): Show c.2394_*2518del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		867		chr19	TogoVar
C8orf82_chr8_144520733_144534111	144531235	AAGGGCAC others(118): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAG ACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03041.hp2 NA18522.hp1 others(1): Show HG02486.hp1 HG03041.hp2 NA18522.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0004 a0001c0002t0002 a0001c0003t0004	a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0003t0004g0046 a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0003t0004g0046	4	398	0.0101	-125	c.-24 others(11): Show c.-2444_-2320del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2125		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531294	AAGGGCAC others(118): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 NA18980.hp2 HG02132.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	398	0.0050	-125	c.-25 others(11): Show c.-2503_-2379del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2184		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531353	AAGGGCAC others(118): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	398	0.0025	-125	c.-25 others(11): Show c.-2562_-2438del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2243		chr8	TogoVar
CAPN15_chr16_522712_559636	541946	TGGATGTG others(118): Show TGGATGTGGGGCCACAGGACGTGGCTGGCTGGGTTTGCCTTGTGCAGAAG GTGCGTGGATGTGGGGCCACAGGACGTGGCTGGCTGGGTTTGCCTTGTGC AGAAGGTGCGTGGACGTGGGGCCACA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0002 a0002c0059t0002	a0002c0059t0002g0065 a0002c0059t0002g0065	1	410	0.0024	-125	c.-22 others(17): Show c.-22-4867_-22-4743del	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC126_chr7_23592382_23649708	23637530	GGGGGATC others(118): Show GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCTTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCTCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG01192.hp2 others(5): Show HG00408.hp2 HG00597.hp1 HG01192.hp2 HG02135.hp2 HG03491.hp2 HG03492.hp1 HG03927.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0073 others(5): Show a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0073 a0001c0001t0001g0090 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0009g0011 a0001c0001t0009g0013	8	380	0.0211	-125	c.239 others(17): Show c.239-5396_239-5272del	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC6_chr10_59783747_59911556	59882166	GGGATGAA others(118): Show GGGATGAAGGAATATGAAATGCCGGGGGGAGAAGGAAAGGTAAAGCCGCG GGGAGTAAGGAAAGGAAAGTCCGGGGTAGTAAGGAAAGGTAAAGCCGGGG GGATGAATGGAAAGGTAATGCTCGGC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG02622.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0190 a0001c0003t0003g0186 a0001c0001t0002g0190 a0001c0003t0003g0186	2	288	0.0069	-125	c.303 others(19): Show c.303+23831_303+23955del	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CD5_chr11_61097489_61132852	61100897	TCACACAC others(118): Show TCACACACACATCAACATGGAGATCACACACACACATCAACATGGAGATT ACACACACATCAACATGGAGATCACATTCACACACATCAACATGGAGATC ACACACACACATCAACATGGAGATCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02630.hp2 others(4): Show HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02809.hp1 HG03486.hp1 HG03486.hp2 HG06807.hp2	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0003 a0002c0009 a0003c0002 others(1): Show a0002c0003 a0002c0009 a0003c0002 a0011c0013	a0002c0003t0003 a0002c0009t0004 a0003c0002t0001 others(1): Show a0002c0003t0003 a0002c0009t0004 a0003c0002t0001 a0011c0013t0001	a0002c0003t0003g0043 a0002c0003t0003g0044 a0002c0009t0004g0021 others(3): Show a0002c0003t0003g0043 a0002c0003t0003g0044 a0002c0009t0004g0021 a0002c0009t0004g0045 a0003c0002t0001g0136 a0011c0013t0001g0137	7	244	0.0287	-125	c.-16 others(11): Show c.-1663_-1539del	CD5	ENSG00000110448.11	transcript	ENST00000347785.8	protein_coding		1591		chr11	TogoVar
CDH4_chr20_61247261_61945617	61783948	GCCCAGTT others(118): Show GCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCC AGGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTG TCTTGTGCCCCCAAGAGAAATGTAAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG01978.hp1 others(4): Show HG01109.hp2 HG01433.hp1 HG01978.hp1 HG02040.hp2 HG02622.hp2 NA18941.hp2 NA18960.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0011 a0002c0004 others(3): Show a0001c0001 a0001c0011 a0002c0004 a0002c0005 a0002c0024 a0004c0025	a0001c0001t0019 a0001c0011t0008 a0002c0004t0027 others(4): Show a0001c0001t0019 a0001c0011t0008 a0002c0004t0027 a0002c0005t0007 a0002c0005t0020 a0002c0024t0047 a0004c0025t0011	a0001c0001t0019g0091 a0001c0011t0008g0101 a0002c0004t0027g0098 others(4): Show a0001c0001t0019g0091 a0001c0011t0008g0101 a0002c0004t0027g0098 a0002c0005t0007g0097 a0002c0005t0020g0056 a0002c0024t0047g0051 a0004c0025t0011g0099	7	106	0.0660	-125	c.576 others(19): Show c.576+10790_576+10914del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61783988	TTGTGCCC others(118): Show TTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAGG CCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGG ACAGTTCTCAAGGCCCTCAGATGTCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02559.hp2 others(5): Show HG02145.hp2 HG02257.hp2 HG02559.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp1 HG04115.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0018 a0001c0003t0005 others(4): Show a0001c0001t0001 a0001c0001t0018 a0001c0003t0005 a0002c0002t0005 a0002c0002t0041 a0002c0004t0003 a0002c0005t0030	a0001c0001t0001g0006 a0001c0001t0018g0031 a0001c0003t0005g0054 others(5): Show a0001c0001t0001g0006 a0001c0001t0018g0031 a0001c0003t0005g0054 a0002c0002t0005g0022 a0002c0002t0041g0087 a0002c0004t0003g0010 a0002c0004t0003g0093 a0002c0005t0030g0103	8	106	0.0755	-125	c.576 others(19): Show c.576+10817_576+10941del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61784113	CTGTGCCC others(118): Show CTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAG GCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGG ACAGTTCTCGAGGCCCTCAGGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04204.hp2 HG04115.hp1 HG04204.hp2	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0024 a0002c0009t0034 a0002c0005t0024 a0002c0009t0034	a0002c0005t0024g0048 a0002c0009t0034g0009 a0002c0005t0024g0048 a0002c0009t0034g0009	2	106	0.0189	-125	c.576 others(19): Show c.576+10942_576+11066del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CECR2_chr22_17364460_17563151	17561385	GCCACCCC others(118): Show GCCACCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGC CACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02723.hp2 HG02809.hp1 others(7): Show HG01255.hp2 HG02723.hp2 HG02809.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1 NA18906.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0019 a0001c0001t0025 a0001c0001t0037 others(4): Show a0001c0001t0019 a0001c0001t0025 a0001c0001t0037 a0001c0001t0057 a0001c0001t0076 a0001c0009t0075 a0002c0002t0053	a0001c0001t0019g0067 a0001c0001t0019g0159 a0001c0001t0019g0285 others(7): Show a0001c0001t0019g0067 a0001c0001t0019g0159 a0001c0001t0019g0285 a0001c0001t0025g0013 a0001c0001t0025g0297 a0001c0001t0037g0294 a0001c0001t0057g0245 a0001c0001t0076g0287 a0001c0009t0075g0195 a0002c0002t0053g0272	10	324	0.0309	-125	c.85 others(11): Show c.8546_*8670del	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding		3235		chr22	TogoVar
CENPVL3_chrX_51612020_51623912	51621578	CTTCTTCT others(118): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	298	0.0034	-125	c.-28 others(11): Show c.-2830_-2706del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2667		chrX	TogoVar
CHD5_chr1_6096787_6185321	6160261	CAGCCAGG others(118): Show CAGCCAGGGAAGGGCCCCAGCCAGAGAAGAAGAACCCCAGCCAGGGAAGG GCCCCAGCCAGGGAAGGGCCCCAGCAAGGGAAGAGCCCCAGCCAGGGAAG GGCCCCAGCCAGAGAAGAAGAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03453.hp1 HG03453.hp2 others(1): Show HG01891.hp1 HG03453.hp1 HG03453.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0010 a0002c0006 a0001c0009 a0001c0010 a0002c0006	a0001c0009t0014 a0001c0010t0012 a0002c0006t0001 others(1): Show a0001c0009t0014 a0001c0010t0012 a0002c0006t0001 a0002c0006t0061	a0001c0009t0014g0229 a0001c0010t0012g0043 a0002c0006t0001g0047 others(1): Show a0001c0009t0014g0229 a0001c0010t0012g0043 a0002c0006t0001g0047 a0002c0006t0061g0061	4	320	0.0125	-125	c.208 others(15): Show c.208-871_208-747del	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHD6_chr20_41397083_41623377	41555133	CGGGGCGG others(118): Show CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGG GGCTGACCCCCCCACCTCCCTCCTGG	C C	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	324	0.0031	-125	c.-23 others(17): Show c.-23-3898_-23-3774del	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	1/36			chr20	TogoVar
COL4A1_chr13_110143963_110312157	110253264	TATATACA others(118): Show TATATACATATAATTATATGTATTACATATACATATAATTATATGTATTA CATATACATATAATTATATGTATTACATATACATATAATTATATGTATTA CATATACATATAATTATATGTATTAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp1 HG02897.hp2 HG02615.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0030 a0002c0048 a0002c0030 a0002c0048	a0002c0030t0008 a0002c0048t0001 a0002c0030t0008 a0002c0048t0001	a0002c0030t0008g0189 a0002c0048t0001g0186 a0002c0048t0001g0187 a0002c0030t0008g0189 a0002c0048t0001g0186 a0002c0048t0001g0187	3	344	0.0087	-125	c.85- others(17): Show c.85-10655_85-10531del	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355578	GTGGGGGG others(118): Show GTGGGGGGAGGGCAGTACCAGCTCACCTGTGTGTGTGGGGGAGGGCTGCA CTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGT GGGGGTGGAGGGCTGTACAGCTCACC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02922.hp2 NA18971.hp1 others(1): Show HG00544.hp2 HG02922.hp2 NA18971.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0016 a0001c0029 others(1): Show a0001c0004 a0001c0016 a0001c0029 a0002c0056	a0001c0004t0003 a0001c0016t0003 a0001c0029t0001 others(1): Show a0001c0004t0003 a0001c0016t0003 a0001c0029t0001 a0002c0056t0004	a0001c0004t0003g0140 a0001c0016t0003g0094 a0001c0029t0001g0161 others(1): Show a0001c0004t0003g0140 a0001c0016t0003g0094 a0001c0029t0001g0161 a0002c0056t0004g0266	4	372	0.0108	-125	c.100 others(17): Show c.100-1891_100-1767del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110457026	CTGCGTCT others(118): Show CTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCCTGCGTCT GCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCATCTGCGTGGGA CCCCAGGCGTCGTGGGGCTGATGCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00423.hp2 others(43): Show HG00099.hp2 HG00323.hp2 HG00423.hp2 HG00597.hp2 HG01069.hp1 HG01070.hp1 HG01099.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02293.hp1 HG02602.hp1 HG02698.hp2 HG02965.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03654.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18522.hp2 NA18941.hp1 NA18943.hp1 NA18960.hp1 NA18975.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA19005.hp2 NA19007.hp2 NA19030.hp1 NA19082.hp2 NA21309.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0006 a0002c0013 a0002c0017 others(16): Show a0002c0006 a0002c0013 a0002c0017 a0002c0019 a0002c0035 a0002c0038 a0002c0050 a0002c0062 a0002c0064 a0002c0082 a0002c0086 a0002c0087 a0002c0090 a0002c0091 a0002c0092 a0002c0111 a0002c0120 a0003c0044 a0004c0084	a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 others(30): Show a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0006t0005 a0002c0006t0006 a0002c0013t0005 a0002c0013t0006 a0002c0013t0008 a0002c0013t0043 a0002c0017t0002 a0002c0017t0003 a0002c0019t0002 a0002c0019t0004 a0002c0019t0006 a0002c0019t0037 a0002c0035t0003 a0002c0035t0012 a0002c0038t0001 a0002c0038t0002 a0002c0050t0002 a0002c0062t0047 a0002c0064t0009 a0002c0082t0004 a0002c0086t0002 a0002c0087t0001 a0002c0090t0008 a0002c0091t0001 a0002c0092t0001 a0002c0111t0015 a0002c0120t0007 a0003c0044t0004 a0004c0084t0005	a0002c0006t0001g0114 a0002c0006t0001g0228 a0002c0006t0001g0258 others(43): Show a0002c0006t0001g0114 a0002c0006t0001g0228 a0002c0006t0001g0258 a0002c0006t0001g0294 a0002c0006t0002g0024 a0002c0006t0003g0084 a0002c0006t0004g0272 a0002c0006t0005g0110 a0002c0006t0005g0157 a0002c0006t0006g0066 a0002c0006t0006g0070 a0002c0006t0006g0090 a0002c0006t0006g0143 a0002c0006t0006g0144 a0002c0013t0005g0188 a0002c0013t0006g0118 a0002c0013t0008g0006 a0002c0013t0043g0016 a0002c0017t0002g0295 a0002c0017t0002g0300 a0002c0017t0002g0316 a0002c0017t0002g0334 a0002c0017t0002g0370 a0002c0017t0003g0126 a0002c0019t0002g0303 a0002c0019t0004g0365 a0002c0019t0006g0131 a0002c0019t0037g0026 a0002c0035t0003g0142 a0002c0035t0012g0328 a0002c0038t0001g0212 a0002c0038t0002g0360 a0002c0050t0002g0317 a0002c0062t0047g0298 a0002c0064t0009g0170 a0002c0082t0004g0366 a0002c0086t0002g0279 a0002c0087t0001g0256 a0002c0090t0008g0041 a0002c0091t0001g0210 a0002c0092t0001g0230 a0002c0111t0015g0368 a0002c0120t0007g0029 a0003c0044t0004g0326 a0003c0044t0004g0327 a0004c0084t0005g0253	46	372	0.1237	-125	c.134 others(17): Show c.1340-233_1340-109del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	20/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CREB3L2_chr7_137869979_138007086	137946765	TTTAGTTA others(118): Show TTTAGTTATCTATATAGTTATCTATATAGTTATATATAGTTATATATAGT TATCTATATAGTTATCTATATATAGTTATCTATATAGTTATCTATATAGT TATATATATAGTTATCTATATAGTTA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0281 a0001c0004t0030g0281	1	288	0.0035	-125	c.103 others(19): Show c.103-18524_103-18400del	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CROCC2_chr2_240901336_240998311	240907850	GCTCTACC others(118): Show GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTCGGGTGAC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02145.hp1 HG00642.hp2 HG02145.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0238 a0001c0024t0002g0342 a0001c0024t0002g0238 a0001c0024t0002g0342	2	350	0.0057	-125	c.78+ others(15): Show c.78+1327_78+1451del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar

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