Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0047 a0001c0004t0021g0047	1	350	0.0029	16	c.248 others(33): Show c.248+7410_248+7411insTGTGTGTGTGTGTGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147273195	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	350	0.0029	16	c.715 others(33): Show c.715-4873_715-4872insAAAAAAAAAAAAAAAA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147320579	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp1 HG03195.hp1 others(1): Show HG02723.hp2 HG02970.hp1 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0043 a0001c0001t0005 a0001c0001t0043	a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0044 others(1): Show a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0044 a0001c0001t0043g0037	4	350	0.0114	16	c.180 others(35): Show c.1802+4187_1802+4188insTTGTGTGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147337192	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02486.hp2 HG02630.hp2 others(3): Show HG01993.hp2 HG02486.hp2 HG02630.hp2 HG03041.hp2 HG03098.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0011 a0001c0003t0002 a0001c0001t0001 a0001c0001t0011 a0001c0003t0002	a0001c0001t0001g0012 a0001c0001t0011g0331 a0001c0003t0002g0008 others(3): Show a0001c0001t0001g0012 a0001c0001t0011g0331 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 a0001c0003t0002g0011	6	350	0.0171	16	c.214 others(35): Show c.2147-1979_2147-1964dupCACACACACACACACA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147337214	C C	CACACACA others(9): Show CACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19000.hp2 HG00735.hp1 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0081 a0002c0002t0002g0094 a0002c0002t0002g0081 a0002c0002t0002g0094	2	350	0.0057	16	c.214 others(35): Show c.2147-1964_2147-1963insCACACACACACACAAA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGAGAG others(9): Show AGAGAGAGAGAGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG03688.hp1 NA18947.hp2 others(1): Show HG00423.hp2 HG03688.hp1 NA18947.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0100 a0002c0002t0002g0101 others(1): Show a0002c0002t0002g0024 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0149	4	350	0.0114	16	c.72 others(27): Show c.7262_*7263insGAGAGAGAGAGAGAGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGAGAG others(9): Show AGAGAGAGAGAGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01071.hp2 HG02148.hp1 others(14): Show HG00558.hp1 HG01071.hp2 HG02148.hp1 HG02257.hp1 HG02615.hp1 HG02809.hp1 HG03195.hp2 HG03927.hp1 HG04199.hp2 NA18963.hp2 NA18972.hp1 NA18980.hp2 NA18982.hp1 NA19058.hp1 NA19075.hp1 NA19091.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0002 a0002c0002t0004 a0002c0002t0031 others(2): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0031 a0002c0002t0037 a0002c0014t0002	a0002c0002t0002g0033 a0002c0002t0002g0062 a0002c0002t0002g0078 others(14): Show a0002c0002t0002g0033 a0002c0002t0002g0062 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0092 a0002c0002t0002g0117 a0002c0002t0002g0140 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0240 a0002c0002t0004g0109 a0002c0002t0031g0096 a0002c0002t0037g0135 a0002c0014t0002g0082	17	350	0.0486	16	c.72 others(27): Show c.7262_*7263insGAGAGAGAGAGAGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGAGAG others(9): Show AGAGAGAGAGAGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02717.hp1 NA18612.hp2 HG01891.hp2 HG02717.hp1 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0014 a0002c0002t0002 a0002c0002t0014	a0002c0002t0002g0110 a0002c0002t0014g0156 a0002c0002t0014g0157 a0002c0002t0002g0110 a0002c0002t0014g0156 a0002c0002t0014g0157	3	350	0.0086	16	c.72 others(27): Show c.7262_*7263insGAGAGAGAGAGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGTGTG others(9): Show AGAGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 NA18747.hp2 NA18949.hp1 others(4): Show HG00438.hp1 NA18747.hp2 NA18949.hp1 NA18950.hp2 NA18990.hp1 NA19065.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0059 others(4): Show a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0320 a0001c0001t0003g0325 a0001c0001t0003g0328	7	350	0.0200	16	c.72 others(27): Show c.7262_*7263insGAGTGTGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP6_chr14_24804454_25055147	24810865	C C	CTCTGTGT others(9): Show CTCTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0051 a0001c0001t0059g0051	1	242	0.0041	16	c.18 others(27): Show c.1843_*1844insCACACACACACACAGA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	6/6	1843		chr14	TogoVar
STXBP6_chr14_24804454_25055147	24810865	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01070.hp1 others(11): Show HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01934.hp2 HG02148.hp2 HG02738.hp1 HG03579.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0035 a0001c0001t0065 others(3): Show a0001c0001t0002 a0001c0001t0035 a0001c0001t0065 a0001c0001t0074 a0001c0001t0086 a0002c0002t0002	a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 others(11): Show a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0054 a0001c0001t0002g0109 a0001c0001t0002g0119 a0001c0001t0035g0158 a0001c0001t0035g0164 a0001c0001t0065g0143 a0001c0001t0074g0108 a0001c0001t0086g0170 a0002c0002t0002g0057	14	242	0.0579	16	c.18 others(27): Show c.1828_*1843dupCACACACACACACACA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	6/6	1843		chr14	TogoVar
STXBP6_chr14_24804454_25055147	24882378	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0104 a0001c0001t0009g0104	1	242	0.0041	16	c.155 others(35): Show c.155-25237_155-25222dupTTTTTTTTTTTTTTTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24931128	A A	ACAAAAAA others(9): Show ACAAAAAACAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp1 NA18906.hp1 others(1): Show HG02622.hp2 HG03225.hp1 NA18906.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0020 a0001c0001t0099 others(1): Show a0001c0001t0018 a0001c0001t0020 a0001c0001t0099 a0001c0001t0112	a0001c0001t0018g0151 a0001c0001t0020g0059 a0001c0001t0099g0208 others(1): Show a0001c0001t0018g0151 a0001c0001t0020g0059 a0001c0001t0099g0208 a0001c0001t0112g0226	4	242	0.0165	16	c.154 others(35): Show c.154+43536_154+43537insGTTTTTTTGTTTTTTG	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24931134	A A	AAAAAAAA others(9): Show AAAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0207 a0001c0001t0102g0207	1	242	0.0041	16	c.154 others(35): Show c.154+43530_154+43531insGTTTTTGTTTTTTTTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24931134	A A	AACAAAAA others(9): Show AACAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01069.hp1 others(39): Show HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01169.hp2 HG01192.hp2 HG01515.hp2 HG02055.hp2 HG02056.hp1 HG02257.hp1 HG02451.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03927.hp2 HG04204.hp1 NA18522.hp1 NA18948.hp2 NA18981.hp2 NA18989.hp2 NA19000.hp2 NA19030.hp1 NA19076.hp1 NA19077.hp2 NA19091.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0038 a0001c0001t0041 a0001c0001t0044 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0057 a0001c0001t0062 a0001c0001t0066 a0001c0001t0068 a0001c0001t0070 a0001c0001t0072 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0085 a0001c0001t0086 a0001c0001t0091 a0001c0001t0092 a0001c0001t0096 a0001c0001t0100 a0001c0001t0103 a0001c0001t0104	a0001c0001t0001g0082 a0001c0001t0002g0025 a0001c0001t0002g0026 others(39): Show a0001c0001t0001g0082 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0109 a0001c0001t0003g0019 a0001c0001t0003g0041 a0001c0001t0003g0078 a0001c0001t0003g0090 a0001c0001t0005g0099 a0001c0001t0006g0008 a0001c0001t0011g0110 a0001c0001t0012g0221 a0001c0001t0013g0089 a0001c0001t0014g0058 a0001c0001t0025g0003 a0001c0001t0028g0148 a0001c0001t0030g0092 a0001c0001t0038g0166 a0001c0001t0041g0190 a0001c0001t0044g0224 a0001c0001t0044g0225 a0001c0001t0051g0002 a0001c0001t0052g0075 a0001c0001t0055g0028 a0001c0001t0057g0023 a0001c0001t0062g0101 a0001c0001t0066g0147 a0001c0001t0068g0042 a0001c0001t0070g0138 a0001c0001t0072g0009 a0001c0001t0078g0154 a0001c0001t0080g0168 a0001c0001t0081g0169 a0001c0001t0085g0172 a0001c0001t0086g0170 a0001c0001t0091g0189 a0001c0001t0092g0176 a0001c0001t0096g0201 a0001c0001t0100g0218 a0001c0001t0103g0228 a0001c0001t0104g0196	42	242	0.1736	16	c.154 others(35): Show c.154+43530_154+43531insGTTTTTGTTTTTTTGT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24945139	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0227 a0001c0001t0046g0227	1	242	0.0041	16	c.154 others(35): Show c.154+29510_154+29525dupAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24951390	C C	CTCCAGCA others(9): Show CTCCAGCACATGTTGTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp1 others(177): Show HG00140.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(93): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0099 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0109 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0115 a0001c0001t0116 a0002c0002t0002	a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0044 others(177): Show a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0054 a0001c0001t0003g0081 a0001c0001t0003g0098 a0001c0001t0003g0131 a0001c0001t0004g0021 a0001c0001t0004g0024 a0001c0001t0004g0038 a0001c0001t0004g0045 a0001c0001t0004g0048 a0001c0001t0004g0050 a0001c0001t0004g0073 a0001c0001t0004g0124 a0001c0001t0004g0128 a0001c0001t0005g0102 a0001c0001t0005g0105 a0001c0001t0006g0004 a0001c0001t0006g0008 a0001c0001t0006g0031 a0001c0001t0006g0086 a0001c0001t0007g0010 a0001c0001t0007g0017 a0001c0001t0007g0064 a0001c0001t0007g0088 a0001c0001t0007g0150 a0001c0001t0008g0206 a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0222 a0001c0001t0008g0229 a0001c0001t0009g0036 a0001c0001t0009g0068 a0001c0001t0009g0069 a0001c0001t0009g0070 a0001c0001t0009g0104 a0001c0001t0010g0035 a0001c0001t0010g0043 a0001c0001t0010g0046 a0001c0001t0010g0096 a0001c0001t0011g0047 a0001c0001t0011g0056 a0001c0001t0011g0079 a0001c0001t0011g0134 a0001c0001t0012g0191 a0001c0001t0012g0236 a0001c0001t0012g0238 a0001c0001t0013g0040 a0001c0001t0013g0091 a0001c0001t0013g0113 a0001c0001t0014g0033 a0001c0001t0014g0066 a0001c0001t0014g0076 a0001c0001t0015g0107 a0001c0001t0015g0112 a0001c0001t0015g0114 a0001c0001t0016g0039 a0001c0001t0016g0071 a0001c0001t0016g0084 a0001c0001t0016g0097 a0001c0001t0017g0034 a0001c0001t0017g0085 a0001c0001t0017g0095 a0001c0001t0017g0142 a0001c0001t0018g0012 a0001c0001t0018g0013 a0001c0001t0018g0016 a0001c0001t0018g0151 a0001c0001t0019g0094 a0001c0001t0019g0121 a0001c0001t0019g0122 a0001c0001t0020g0135 a0001c0001t0020g0137 a0001c0001t0021g0117 a0001c0001t0021g0132 a0001c0001t0022g0061 a0001c0001t0022g0063 a0001c0001t0022g0116 a0001c0001t0023g0199 a0001c0001t0023g0212 a0001c0001t0023g0241 a0001c0001t0024g0234 a0001c0001t0024g0237 a0001c0001t0025g0136 a0001c0001t0026g0030 a0001c0001t0026g0149 a0001c0001t0027g0037 a0001c0001t0027g0060 a0001c0001t0028g0062 a0001c0001t0028g0148 a0001c0001t0029g0120 a0001c0001t0029g0141 a0001c0001t0030g0006 a0001c0001t0031g0162 a0001c0001t0032g0161 a0001c0001t0032g0165 a0001c0001t0033g0156 a0001c0001t0033g0174 a0001c0001t0035g0158 a0001c0001t0035g0164 a0001c0001t0036g0155 a0001c0001t0036g0163 a0001c0001t0037g0171 a0001c0001t0038g0166 a0001c0001t0039g0178 a0001c0001t0039g0188 a0001c0001t0040g0179 a0001c0001t0040g0181 a0001c0001t0041g0209 a0001c0001t0042g0239 a0001c0001t0043g0214 a0001c0001t0043g0223 a0001c0001t0044g0224 a0001c0001t0044g0225 a0001c0001t0045g0194 a0001c0001t0045g0195 a0001c0001t0046g0227 a0001c0001t0046g0233 a0001c0001t0047g0203 a0001c0001t0047g0204 a0001c0001t0049g0126 a0001c0001t0053g0080 a0001c0001t0054g0014 a0001c0001t0056g0011 a0001c0001t0058g0065 a0001c0001t0059g0051 a0001c0001t0060g0052 a0001c0001t0061g0015 a0001c0001t0063g0144 a0001c0001t0065g0143 a0001c0001t0066g0147 a0001c0001t0067g0072 a0001c0001t0069g0055 a0001c0001t0071g0146 a0001c0001t0073g0029 a0001c0001t0074g0108 a0001c0001t0075g0077 a0001c0001t0077g0182 a0001c0001t0079g0159 a0001c0001t0080g0168 a0001c0001t0081g0169 a0001c0001t0082g0177 a0001c0001t0083g0187 a0001c0001t0085g0172 a0001c0001t0086g0170 a0001c0001t0087g0157 a0001c0001t0088g0186 a0001c0001t0089g0175 a0001c0001t0090g0184 a0001c0001t0091g0189 a0001c0001t0092g0176 a0001c0001t0093g0173 a0001c0001t0094g0180 a0001c0001t0095g0200 a0001c0001t0096g0201 a0001c0001t0098g0231 a0001c0001t0099g0208 a0001c0001t0101g0205 a0001c0001t0102g0207 a0001c0001t0103g0228 a0001c0001t0105g0240 a0001c0001t0106g0235 a0001c0001t0107g0219 a0001c0001t0109g0197 a0001c0001t0111g0215 a0001c0001t0112g0226 a0001c0001t0113g0211 a0001c0001t0115g0230 a0001c0001t0116g0242 a0002c0002t0002g0057	180	242	0.7438	16	c.154 others(35): Show c.154+23274_154+23275insAACAACATGTGCTGGA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24964647	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01934.hp1 HG02523.hp2 others(3): Show HG00323.hp2 HG01934.hp1 HG02523.hp2 HG02735.hp1 NA18947.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0031 a0001c0001t0042 others(3): Show a0001c0001t0023 a0001c0001t0031 a0001c0001t0042 a0001c0001t0045 a0001c0001t0059 a0001c0001t0110	a0001c0001t0023g0199 a0001c0001t0031g0160 a0001c0001t0042g0192 others(3): Show a0001c0001t0023g0199 a0001c0001t0031g0160 a0001c0001t0042g0192 a0001c0001t0045g0195 a0001c0001t0059g0051 a0001c0001t0110g0193	6	242	0.0248	16	c.154 others(35): Show c.154+10002_154+10017dupCACACACACACACACA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24976852	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0230 a0001c0001t0115g0230	1	242	0.0041	16	c.-32 others(33): Show c.-32-2018_-32-2003dupAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5			chr14	TogoVar
STYXL1_chr7_75991342_76053000	75999491	T T	TTGTGTAT others(9): Show TTGTGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	356	0.0028	16	c.810 others(33): Show c.810+1398_810+1399insCACACACACATACACA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	8/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	75999511	A A	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19085.hp2 HG02809.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0335 a0001c0002t0002g0148 a0001c0001t0001g0335 a0001c0002t0002g0148	2	356	0.0056	16	c.810 others(33): Show c.810+1378_810+1379insCACACACACACACATA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	8/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76005817	G G	GGAGGAGG others(9): Show GGAGGAGGAGGAAGAGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19091.hp1 NA18979.hp2 NA19091.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0008 a0002c0004t0001 a0002c0004t0008	a0002c0004t0001g0318 a0002c0004t0008g0319 a0002c0004t0001g0318 a0002c0004t0008g0319	2	356	0.0056	16	c.454 others(31): Show c.454-429_454-414dupTCTCTTCCTCCTCCTC	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	5/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76017866	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0161 a0001c0002t0006g0161	1	356	0.0028	16	c.308 others(33): Show c.308-3980_308-3979insTTTTTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76026192	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	356	0.0028	16	c.165 others(33): Show c.165+2434_165+2449dupTTTTTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	3/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046274	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0161 a0001c0002t0006g0161	1	356	0.0028	16	c.-5+ others(31): Show c.-5+1372_-5+1387dupCACACACACACACACA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046339	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0274 a0001c0003t0001g0274	1	356	0.0028	16	c.-5+ others(31): Show c.-5+1322_-5+1323insGCACACACACACACAC	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
STYXL2_chr1_167089075_167134165	167111513	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	362	0.0028	16	c.111 others(33): Show c.111-2196_111-2195insTATATATATATACACA	STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUB1_chr5_32580557_32609079	32590762	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19010.hp2 NA19005.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	2	446	0.0045	16	c.73- others(29): Show c.73-793_73-778dupTTTTTTTTTTTTTTTT	SUB1	ENSG00000113387.12	transcript	ENST00000265073.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SUCLA2_chr13_47937656_48006273	47943762	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	358	0.0028	16	c.131 others(33): Show c.1318-318_1318-317insTATATATATATATATA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLA2_chr13_47937656_48006273	47943764	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0245 a0002c0002t0010g0245	1	358	0.0028	16	c.131 others(33): Show c.1318-320_1318-319insTATATATATATATATA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLA2_chr13_47937656_48006273	47943766	G G	GTGTGTAT others(9): Show GTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18957.hp1 NA18981.hp2 others(3): Show NA18944.hp2 NA18957.hp1 NA18981.hp2 NA19011.hp1 NA19059.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 others(3): Show a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0274	6	358	0.0168	16	c.131 others(33): Show c.1318-322_1318-321insTATATATATATACACA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLA2_chr13_47937656_48006273	47943766	G G	GTGTGTGT others(9): Show GTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0269 a0002c0002t0001g0269	1	358	0.0028	16	c.131 others(33): Show c.1318-322_1318-321insTATATATATACACACA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLA2_chr13_47937656_48006273	47945643	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0313 a0002c0002t0003g0313	1	358	0.0028	16	c.131 others(35): Show c.1318-2214_1318-2199dupGTGTGTGTGTGTGTGT	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLG2_chr3_67369719_67659612	67402309	G G	GGCAGGTT others(9): Show GGCAGGTTACCTAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp1 others(153): Show HG00140.hp1 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19062.hp2 NA19066.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0011 a0013	a0001c0001 a0001c0004 a0001c0006 others(10): Show a0001c0001 a0001c0004 a0001c0006 a0001c0019 a0002c0002 a0003c0003 a0003c0018 a0004c0005 a0006c0008 a0007c0016 a0008c0012 a0011c0015 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0004t0001 a0001c0004t0004 a0001c0004t0016 a0001c0006t0001 a0001c0006t0013 a0001c0019t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0003t0005 a0003c0018t0005 a0004c0005t0001 a0006c0008t0001 a0007c0016t0001 a0008c0012t0003 a0011c0015t0001 a0013c0014t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(153): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0100 a0001c0001t0002g0117 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0164 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0263 a0001c0001t0003g0062 a0001c0001t0003g0082 a0001c0001t0003g0127 a0001c0001t0003g0158 a0001c0001t0003g0173 a0001c0001t0003g0191 a0001c0001t0003g0203 a0001c0001t0004g0008 a0001c0001t0004g0051 a0001c0001t0004g0066 a0001c0001t0004g0073 a0001c0001t0004g0086 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0270 a0001c0001t0006g0168 a0001c0001t0007g0157 a0001c0001t0007g0165 a0001c0001t0007g0218 a0001c0001t0007g0239 a0001c0001t0008g0057 a0001c0001t0008g0058 a0001c0001t0009g0214 a0001c0001t0018g0279 a0001c0001t0019g0280 a0001c0004t0001g0275 a0001c0004t0004g0273 a0001c0004t0016g0274 a0001c0006t0001g0276 a0001c0006t0001g0277 a0001c0006t0013g0278 a0001c0019t0002g0061 a0002c0002t0001g0072 a0002c0002t0001g0080 a0002c0002t0001g0118 a0002c0002t0001g0232 a0002c0002t0003g0003 a0002c0002t0003g0077 a0002c0002t0003g0079 a0002c0002t0003g0129 a0002c0002t0003g0190 a0002c0002t0003g0215 a0002c0002t0003g0255 a0002c0002t0003g0257 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0004g0069 a0002c0002t0004g0233 a0002c0002t0004g0258 a0003c0003t0005g0017 a0003c0003t0005g0156 a0003c0003t0005g0166 a0003c0003t0005g0170 a0003c0003t0005g0226 a0003c0003t0005g0240 a0003c0003t0005g0245 a0003c0003t0005g0247 a0003c0003t0005g0248 a0003c0018t0005g0262 a0004c0005t0001g0006 a0004c0005t0001g0264 a0004c0005t0001g0265 a0006c0008t0001g0119 a0006c0008t0001g0205 a0007c0016t0001g0194 a0008c0012t0003g0067 a0011c0015t0001g0090 a0013c0014t0001g0091	156	280	0.5571	16	c.106 others(35): Show c.1063-1459_1063-1458insTCTCTAGGTAACCTGC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67422472	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	280	0.0036	16	c.106 others(37): Show c.1063-21622_1063-21621insTTTTTTTTTTTTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01981.hp1 HG02723.hp1 others(1): Show HG00597.hp2 HG01981.hp1 HG02723.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0011 a0001c0001t0003g0106 a0001c0001t0003g0188 others(1): Show a0001c0001t0002g0011 a0001c0001t0003g0106 a0001c0001t0003g0188 a0001c0001t0004g0008	4	280	0.0143	16	c.106 others(37): Show c.1063-21638_1063-21623dupTTTTTTTTTTTTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67475988	C C	CCTCTCTC others(9): Show CCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03017.hp1 HG01891.hp1 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0002 a0002c0002t0003g0003 a0001c0001t0001g0002 a0002c0002t0003g0003	2	280	0.0071	16	c.106 others(37): Show c.1062+19794_1062+19809dupAGAGAGAGAGAGAGAG	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67482182	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01993.hp2 others(16): Show HG00438.hp2 HG00621.hp1 HG01993.hp2 HG02040.hp2 HG02071.hp2 HG02132.hp1 HG02155.hp2 HG02523.hp1 NA18942.hp2 NA18945.hp1 NA18950.hp1 NA18959.hp2 NA18963.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19011.hp1 NA19062.hp1 NA19081.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0010c0011 a0001c0001 a0003c0003 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0003c0003t0005 a0010c0011t0001	a0001c0001t0001g0075 a0001c0001t0001g0101 a0001c0001t0001g0135 others(16): Show a0001c0001t0001g0075 a0001c0001t0001g0101 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0243 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0040 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0003g0127 a0001c0001t0006g0168 a0001c0001t0006g0171 a0003c0003t0005g0170 a0010c0011t0001g0024	19	280	0.0679	16	c.106 others(37): Show c.1062+13600_1062+13615dupCTTCCTTCCTTCCTTC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67592743	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	280	0.0036	16	c.226 others(35): Show c.226+16711_226+16712insGTTTTTTTTTTTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	2/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67615621	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	280	0.0036	16	c.85- others(31): Show c.85-6041_85-6026dupGTGTGTGTGTGTGTGT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	1/10			chr3	TogoVar
SUDS3_chr12_118371555_118423033	118410555	C C	CTTTATTT others(9): Show CTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19085.hp1 NA19081.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0275 a0001c0001t0003g0271 a0001c0001t0003g0275	2	408	0.0049	16	c.804 others(31): Show c.804-506_804-491dupATTTATTTATTTATTT	SUDS3	ENSG00000111707.12	transcript	ENST00000543473.2	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
SUFU_chr10_102498972_102638535	102518515	G G	GTCTATCT others(9): Show GTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02300.hp1 HG02602.hp1 others(5): Show HG01192.hp1 HG02300.hp1 HG02602.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA19084.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016	a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0215 others(5): Show a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0006g0268 a0001c0001t0009g0189 a0001c0001t0016g0191	8	268	0.0299	16	c.317 others(33): Show c.317+9215_317+9216insATCTATCTATCTATCT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SUFU_chr10_102498972_102638535	102518519	G G	GTCTATCT others(9): Show GTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01952.hp2 HG01981.hp2 others(23): Show HG00544.hp2 HG01952.hp2 HG01981.hp2 HG02257.hp2 HG03098.hp1 HG03239.hp1 HG03540.hp1 HG06807.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18950.hp1 NA18959.hp1 NA18960.hp1 NA18979.hp1 NA18983.hp1 NA18995.hp2 NA19011.hp1 NA19060.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19090.hp2 NA19240.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 others(23): Show a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0003g0240 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0010g0137 a0001c0001t0011g0067 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0007g0104 a0001c0002t0007g0106	26	268	0.0970	16	c.317 others(33): Show c.317+9230_317+9245dupCTATCTATCTATCTAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SUFU_chr10_102498972_102638535	102618931	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0026	1	268	0.0037	16	c.129 others(35): Show c.1296+1536_1296+1551dupGTGTGTGTGTGTGTGT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SUFU_chr10_102498972_102638535	102637616	T T	TATGATTA others(9): Show TATGATTATAAAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG02922.hp2 NA18952.hp1 others(2): Show HG01993.hp1 HG02922.hp2 NA18952.hp1 NA18961.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0035 a0001c0002t0002 a0001c0002t0035	a0001c0002t0002g0003 a0001c0002t0002g0040 a0001c0002t0002g0061 others(2): Show a0001c0002t0002g0003 a0001c0002t0002g0040 a0001c0002t0002g0061 a0001c0002t0002g0087 a0001c0002t0035g0084	5	268	0.0187	16	c.74 others(27): Show c.7461_*7462insATGATTATAAAATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4082		chr10	TogoVar
SUFU_chr10_102498972_102638535	102638196	T T	TAATATGA others(9): Show TAATATGATCATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02572.hp1 HG01433.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0223 a0001c0001t0022g0233 a0001c0001t0003g0223 a0001c0001t0022g0233	2	268	0.0075	16	c.80 others(27): Show c.8041_*8042insAATATGATCATATAAA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4662		chr10	TogoVar
SUGCT_chr7_40130005_40865763	40245404	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	8	0.1250	16	c.576 others(33): Show c.576+7683_576+7698dupATATATATATATATAT	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGCT_chr7_40130005_40865763	40666355	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	8	0.1250	16	c.109 others(37): Show c.1090-83056_1090-83041dupGGAAGGAAGGAAGGAA	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGCT_chr7_40130005_40865763	40854419	C C	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	8	0.1250	16	c.115 others(35): Show c.1154-5854_1154-5839dupTTCTTTCTTTCTTTCT	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGP1_chr19_19271033_19325509	19272728	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	332	0.0030	16	c.39 others(27): Show c.3919_*3920insTCACACACACACACAC	SUGP1	ENSG00000105705.16	transcript	ENST00000247001.10	protein_coding		3304		chr19	TogoVar

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