Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SETD6_chr16_58510517_58528842	58513607	C C	CCTTATGT others(11): Show CCTTATGTGCTCATTTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(127): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01074.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp2 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0006 a0001c0001 a0001c0003 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0030 a0001c0001t0040 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0003t0002 a0001c0003t0012 a0001c0003t0023 a0001c0003t0031 a0001c0003t0049 a0001c0003t0051 a0004c0006t0002	a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0002g0058 others(31): Show a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0003g0001 a0001c0001t0003g0023 a0001c0001t0003g0046 a0001c0001t0009g0001 a0001c0001t0009g0022 a0001c0001t0019g0001 a0001c0001t0020g0001 a0001c0001t0023g0001 a0001c0001t0030g0001 a0001c0001t0040g0001 a0001c0001t0046g0001 a0001c0001t0047g0001 a0001c0001t0048g0001 a0001c0001t0050g0001 a0001c0001t0052g0001 a0001c0001t0053g0001 a0001c0001t0054g0001 a0001c0001t0055g0001 a0001c0003t0002g0001 a0001c0003t0002g0005 a0001c0003t0002g0014 a0001c0003t0002g0024 a0001c0003t0012g0001 a0001c0003t0012g0017 a0001c0003t0012g0032 a0001c0003t0023g0022 a0001c0003t0031g0001 a0001c0003t0031g0005 a0001c0003t0049g0024 a0001c0003t0051g0014 a0004c0006t0002g0001	130	426	0.3052	18	c.-19 others(29): Show c.-1931_-1930insCTTATGTGCTCATTTCTG		SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding					1909		chr16	TogoVar
SETD7_chr4_139501038_139561219	139544797	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG04199.hp2 HG03195.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0041 a0001c0001t0009 a0001c0001t0041	a0001c0001t0009g0146 a0001c0001t0041g0214 a0001c0001t0009g0146 a0001c0001t0041g0214	2	316	0.0063	18	c.170 others(35): Show c.170+2105_170+2122dupACACACACACACACACAC		SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	2/7						chr4	TogoVar
SETD9_chr5_56904596_56922348	56908069	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02809.hp1 HG03209.hp2 others(2): Show HG02717.hp2 HG02809.hp1 HG03209.hp2 HG03540.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0002c0002t0001g0008 a0001c0001t0001g0005 a0002c0002t0001g0008	5	426	0.0117	18	c.-15 others(29): Show c.-1577_-1576insTTTTTTTTTTTTTTTTTT		SETD9	ENSG00000155542.12	transcript	ENST00000285947.5	protein_coding					1526		chr5	TogoVar
SETDB1_chr1_150921363_150969737	150923910	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	352	0.0028	18	c.-26 others(29): Show c.-2619_-2618insAAAAAAAAAAAAAAAAAA		SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding					2452		chr1	TogoVar
SETDB1_chr1_150921363_150969737	150931261	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	352	0.0028	18	c.412 others(35): Show c.412+1146_412+1163dupAAAAAAAAAAAAAAAAAA		SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
SETDB2_chr13_49439274_49500003	49441221	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01257.hp2 HG02572.hp1 others(6): Show HG01106.hp1 HG01257.hp2 HG02572.hp1 HG02602.hp2 HG02886.hp2 HG02976.hp2 HG03139.hp1 HG04199.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0009 a0001c0002t0027 a0003c0004t0005 a0001c0001t0009 a0001c0002t0027 a0003c0004t0005	a0001c0001t0009g0062 a0001c0001t0009g0077 a0001c0002t0027g0333 others(6): Show a0001c0001t0009g0062 a0001c0001t0009g0077 a0001c0002t0027g0333 a0003c0004t0005g0199 a0003c0004t0005g0200 a0003c0004t0005g0202 a0003c0004t0005g0208 a0003c0004t0005g0210 a0003c0004t0005g0224	9	406	0.0222	18	c.-39 others(29): Show c.-3978_-3977insTATATATATATATATATA		SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding					3052		chr13	TogoVar
SETDB2_chr13_49439274_49500003	49471913	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19062.hp1 HG02015.hp2 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0346 a0001c0002t0004g0379 a0001c0002t0004g0346 a0001c0002t0004g0379	2	406	0.0049	18	c.305 others(35): Show c.305+3958_305+3975dupATATATATATATATATAT		SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr13	TogoVar
SETSIP_chr1_92069533_92080411	92071265	T T	TACACACA others(11): Show TACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0000 a0005c0005t0001g0000	1	363	0.0028	18	c.32 others(29): Show c.3267_*3268insGTGTGTGTGTGTGTGTGT		SETSIP	ENSG00000230667.7	transcript	ENST00000596516.3	protein_coding					3267		chr1	TogoVar
SEZ6L_chr22_26164462_26388596	26316905	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01070.hp1 others(28): Show HG00323.hp2 HG00735.hp1 HG01070.hp1 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG02145.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02897.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0009 a0002c0002 a0002c0005 others(6): Show a0001c0009 a0002c0002 a0002c0005 a0002c0012 a0002c0017 a0002c0033 a0002c0037 a0005c0011 a0009c0028	a0001c0009t0006 a0002c0002t0001 a0002c0002t0002 others(16): Show a0001c0009t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0005t0001 a0002c0005t0004 a0002c0012t0001 a0002c0012t0004 a0002c0017t0001 a0002c0017t0008 a0002c0033t0003 a0002c0037t0001 a0005c0011t0004 a0005c0011t0006 a0009c0028t0016	a0001c0009t0006g0114 a0002c0002t0001g0003 a0002c0002t0001g0020 others(28): Show a0001c0009t0006g0114 a0002c0002t0001g0003 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0093 a0002c0002t0001g0100 a0002c0002t0001g0107 a0002c0002t0002g0073 a0002c0002t0003g0041 a0002c0002t0004g0087 a0002c0002t0004g0187 a0002c0002t0004g0228 a0002c0002t0006g0033 a0002c0002t0006g0062 a0002c0002t0006g0071 a0002c0002t0006g0174 a0002c0002t0008g0095 a0002c0002t0009g0099 a0002c0005t0001g0096 a0002c0005t0001g0235 a0002c0005t0004g0181 a0002c0012t0001g0148 a0002c0012t0001g0151 a0002c0012t0004g0149 a0002c0017t0001g0110 a0002c0017t0008g0109 a0002c0033t0003g0117 a0002c0037t0001g0196 a0005c0011t0004g0023 a0005c0011t0006g0106 a0009c0028t0016g0140	31	240	0.1292	18	c.201 others(37): Show c.2015+3019_2015+3036dupGAAAAAGAAAGAAAGAAA		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26345439	C C	CAAAGCAT others(11): Show CAAAGCATTTGGCTCAAGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0197 a0001c0003t0004g0197	1	240	0.0042	18	c.221 others(37): Show c.2213-2279_2213-2262dupAAAGCATTTGGCTCAAGG		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03491.hp1 NA18973.hp1 others(1): Show HG02040.hp2 HG03491.hp1 NA18973.hp1 NA18982.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0005 a0007c0019 a0001c0001 a0002c0005 a0007c0019	a0001c0001t0002 a0002c0005t0005 a0007c0019t0003 a0001c0001t0002 a0002c0005t0005 a0007c0019t0003	a0001c0001t0002g0086 a0001c0001t0002g0219 a0002c0005t0005g0205 others(1): Show a0001c0001t0002g0086 a0001c0001t0002g0219 a0002c0005t0005g0205 a0007c0019t0003g0081	4	240	0.0167	18	c.240 others(35): Show c.2407+734_2407+735insGAAAGAAAGAAAGAAAGA		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348707	C C	CAAGGGAG others(11): Show CAAGGGAGGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02647.hp1 others(9): Show HG02258.hp1 HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0001c0006 a0002c0005 others(3): Show a0001c0003 a0001c0006 a0002c0005 a0002c0018 a0003c0004 a0005c0011	a0001c0003t0001 a0001c0003t0004 a0001c0006t0012 others(7): Show a0001c0003t0001 a0001c0003t0004 a0001c0006t0012 a0002c0005t0001 a0002c0018t0014 a0003c0004t0002 a0003c0004t0007 a0003c0004t0029 a0003c0004t0030 a0005c0011t0004	a0001c0003t0001g0103 a0001c0003t0001g0183 a0001c0003t0004g0182 others(9): Show a0001c0003t0001g0103 a0001c0003t0001g0183 a0001c0003t0004g0182 a0001c0006t0012g0092 a0002c0005t0001g0096 a0002c0018t0014g0105 a0002c0018t0014g0125 a0003c0004t0002g0016 a0003c0004t0007g0192 a0003c0004t0029g0098 a0003c0004t0030g0195 a0005c0011t0004g0023	12	240	0.0500	18	c.240 others(35): Show c.2407+810_2407+827dupGGGAAGGGAGGGAAGGGA		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02809.hp1 others(3): Show HG01884.hp1 HG02258.hp1 HG02809.hp1 HG02809.hp2 HG02976.hp1 HG03130.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0005c0011	a0001c0001t0004 a0001c0003t0004 a0003c0004t0004 others(2): Show a0001c0001t0004 a0001c0003t0004 a0003c0004t0004 a0003c0004t0030 a0005c0011t0004	a0001c0001t0004g0173 a0001c0003t0004g0182 a0001c0003t0004g0210 others(3): Show a0001c0001t0004g0173 a0001c0003t0004g0182 a0001c0003t0004g0210 a0003c0004t0004g0161 a0003c0004t0030g0195 a0005c0011t0004g0023	6	240	0.0250	18	c.279 others(37): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTT		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3A3_chr1_37951975_37995022	37983586	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00621.hp1 others(39): Show HG00423.hp2 HG00558.hp2 HG00621.hp1 HG00738.hp1 HG01243.hp1 HG01358.hp2 HG01433.hp1 HG01952.hp1 HG02027.hp1 HG02056.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02622.hp1 HG02683.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18952.hp1 NA18955.hp2 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18978.hp1 NA18982.hp2 NA18986.hp2 NA18992.hp2 NA18998.hp1 NA19006.hp1 NA19009.hp1 NA19043.hp2 NA19063.hp2 NA19068.hp1 NA19075.hp2 NA19083.hp2 NA19090.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0034	a0001c0001t0002g0168 a0001c0001t0003g0208 a0001c0001t0003g0209 others(38): Show a0001c0001t0002g0168 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0352 a0001c0001t0003g0354 a0001c0001t0003g0361 a0001c0001t0004g0204 a0001c0001t0012g0350 a0001c0001t0012g0351 a0001c0001t0012g0355 a0001c0001t0016g0356 a0001c0001t0019g0346 a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0154 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0293 a0001c0002t0002g0296 a0001c0002t0002g0300 a0001c0002t0002g0302 a0001c0002t0004g0155 a0001c0002t0004g0273 a0001c0002t0004g0274 a0001c0002t0004g0294 a0001c0002t0004g0325 a0001c0002t0007g0265 a0001c0002t0007g0295 a0001c0002t0034g0267	42	400	0.1050	18	c.468 others(33): Show c.468+565_468+582dupTTTTTTTTTTTTTTTTTT		SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	6/16						chr1	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp2 HG01358.hp2 others(3): Show HG01099.hp1 HG01106.hp2 HG01358.hp2 HG01433.hp2 HG04115.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0066 a0001c0001t0001g0160 a0001c0001t0001g0237 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0160 a0001c0001t0001g0237 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131	6	344	0.0174	18	c.495 others(33): Show c.495+257_495+274dupTTTTTTTTTTTTTTTTTT		SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24						chr2	TogoVar
SFI1_chr22_31491536_31623588	31562983	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp1 HG03139.hp2 others(1): Show HG00738.hp2 HG01891.hp1 HG03139.hp2 HG06807.hp1	a0006 a0006	a0006c0008 a0006c0013 a0006c0008 a0006c0013	a0006c0008t0001 a0006c0013t0001 a0006c0008t0001 a0006c0013t0001	a0006c0008t0001g0317 a0006c0008t0001g0320 a0006c0013t0001g0157 others(1): Show a0006c0008t0001g0317 a0006c0008t0001g0320 a0006c0013t0001g0157 a0006c0013t0001g0158	4	322	0.0124	18	c.765 others(35): Show c.765+1593_765+1610dupATATATATATATATATAT		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	322	0.0031	18	c.124 others(37): Show c.1249-1638_1249-1637insATATATATATTTTTTTTT		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31593987	C C	CGAGGGAG others(11): Show CGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG03209.hp2 others(4): Show HG02109.hp2 HG02622.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG06807.hp2 NA18522.hp1	a0007 a0007	a0007c0007 a0007c0023 a0007c0024 a0007c0007 a0007c0023 a0007c0024	a0007c0007t0001 a0007c0023t0001 a0007c0024t0001 a0007c0007t0001 a0007c0023t0001 a0007c0024t0001	a0007c0007t0001g0296 a0007c0007t0001g0297 a0007c0007t0001g0301 others(4): Show a0007c0007t0001g0296 a0007c0007t0001g0297 a0007c0007t0001g0301 a0007c0007t0001g0303 a0007c0007t0001g0310 a0007c0023t0001g0302 a0007c0024t0001g0300	7	322	0.0217	18	c.154 others(37): Show c.1544+4411_1544+4428dupGAGGGAGAGGGAGAGGGA		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31598716	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18998.hp1 HG02148.hp2 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0079 a0002c0002t0001g0073 a0002c0002t0001g0079	2	322	0.0062	18	c.154 others(37): Show c.1545-3490_1545-3473dupTTTTTTTTTTTTTTTTTT		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31612426	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02132.hp2 HG01261.hp1 HG02132.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0037 a0002c0002 a0012c0037	a0002c0002t0001 a0012c0037t0001 a0002c0002t0001 a0012c0037t0001	a0002c0002t0001g0100 a0012c0037t0001g0082 a0002c0002t0001g0100 a0012c0037t0001g0082	2	322	0.0062	18	c.249 others(35): Show c.2490+587_2490+588insTATATATATATATATAAA		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52928619	C C	CATATATA others(11): Show CATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01891.hp2 HG02257.hp1 others(2): Show HG01074.hp1 HG01891.hp2 HG02257.hp1 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 others(2): Show a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327	5	328	0.0152	18	c.898 others(33): Show c.898-279_898-278insATATATGTATATATATAT		SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	8/20						chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19066.hp2 HG02155.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0246 a0001c0001t0001g0172 a0001c0001t0001g0246	2	328	0.0061	18	c.124 others(35): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTT		SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20						chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52948825	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0306 a0001c0001t0004g0306	1	328	0.0031	18	c.124 others(35): Show c.124-5250_124-5233dupAAAAAAAAAAAAAAAAAA		SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20						chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52982039	A A	ACCCATGA others(11): Show ACCCATGAGTTCAACTCAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	328	0.0031	18	c.-13 others(39): Show c.-130-12799_-130-12782dupGTGAGTTGAACTCATGGG		SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20						chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53006628	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03486.hp2 NA20129.hp2 HG01943.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0288 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0002g0288 a0001c0001t0004g0315 a0001c0001t0004g0316	3	328	0.0092	18	c.-13 others(39): Show c.-130-37371_-130-37370insTTTTTTTTTTTTTTTTTT		SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20						chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53040968	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	328	0.0031	18	c.-13 others(37): Show c.-131+4830_-131+4847dupAAAAAAAAAAAAAAAAAA		SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20						chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7186459	C C	CACACACA others(11): Show CACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	144	0.0069	18	c.180 others(37): Show c.1808+2164_1808+2165insATATATATATATGTGTGT		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	16/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7186459	C C	CACACATA others(11): Show CACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0020 a0001c0003t0026g0020	1	144	0.0069	18	c.180 others(37): Show c.1808+2164_1808+2165insATATATATATATATGTGT		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	16/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7186459	C C	CACATATA others(11): Show CACATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	144	0.0069	18	c.180 others(37): Show c.1808+2164_1808+2165insATATATATATATATATGT		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	16/20						chr10	TogoVar
SFN_chr1_26858149_26869456	26868248	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	332	0.0030	18	c.42 others(29): Show c.4289_*4290insTCTCTCTCTCTCTCTCTC		SFN	ENSG00000175793.12	transcript	ENST00000339276.6	protein_coding					3793		chr1	TogoVar
SFRP2_chr4_153775591_153794083	153789505	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	18	c.-67 others(27): Show c.-671_-670insACACACACACACACACAC		SFRP2	ENSG00000145423.5	transcript	ENST00000274063.5	protein_coding					423		chr4	TogoVar
SFSWAP_chr12_131706090_131804738	131738885	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03041.hp2 HG03195.hp2 others(1): Show HG01943.hp1 HG03041.hp2 HG03195.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0166 a0001c0001t0001g0277 a0001c0004t0002g0306 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0277 a0001c0004t0002g0306 a0001c0004t0002g0307	4	318	0.0126	18	c.108 others(39): Show c.1081+10464_1081+10481dupTTTTTTTTTTTTTTTTTT		SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131740967	T T	TTTTTTTT others(11): Show TTTTTTTTTCTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	318	0.0031	18	c.108 others(39): Show c.1082-12148_1082-12147insCTTTTTTTTCTTTTTTTT		SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01346.hp1 others(4): Show HG00741.hp1 HG01099.hp2 HG01346.hp1 HG01358.hp1 HG01975.hp1 HG02273.hp2 HG06807.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0017 a0001c0001 a0001c0002 a0011c0017	a0001c0001t0001 a0001c0002t0001 a0011c0017t0001 a0001c0001t0001 a0001c0002t0001 a0011c0017t0001	a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0002t0001g0294 others(4): Show a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0298 a0001c0002t0001g0300 a0011c0017t0001g0209	7	318	0.0220	18	c.240 others(37): Show c.2409-2658_2409-2641dupTATATATATATATATATA		SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
SFT2D3_chr2_127696497_127710242	127700120	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	386	0.0026	18	c.-14 others(29): Show c.-1409_-1408insTGTGTGTATATATATATA		SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding					1376		chr2	TogoVar
SFT2D3_chr2_127696497_127710242	127700138	A A	ATATATAT others(11): Show ATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG02257.hp2 HG00733.hp1 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	386	0.0052	18	c.-13 others(29): Show c.-1391_-1390insTATATATATATATATTTT		SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding					1358		chr2	TogoVar
SFT2D3_chr2_127696497_127710242	127701591	G G	GGCCGCGG others(11): Show GGCCGCGGAGCCGCTGCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18612.hp2 NA18947.hp2 NA19075.hp2 others(1): Show NA18612.hp2 NA18947.hp2 NA19075.hp2 NA20805.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0000 a0005c0005t0002g0000	4	386	0.0104	18	c.73_ others(23): Show c.73_90dupCCGCTGCTCGCCGCGGAG	p.Pro others(11): Show p.Pro25_Glu30dup	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding	1/1	123/3746	91/648	31/215		INFO_REALIGN_3_PRIME	chr2	TogoVar
SFTPC_chr8_22156798_22169479	22165882	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02071.hp1 HG02293.hp2 others(17): Show HG00609.hp1 HG02071.hp1 HG02293.hp2 HG03130.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 NA18946.hp2 NA18952.hp1 NA18960.hp2 NA18961.hp1 NA18980.hp1 NA18980.hp2 NA18985.hp2 NA18993.hp2 NA19002.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 a0001c0001t0001 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0025 a0002c0002t0002g0001 a0002c0002t0002g0007 a0002c0002t0002g0039 a0002c0002t0002g0076 a0003c0003t0002g0001	20	466	0.0429	18	c.16 others(29): Show c.1635_*1636insGTGTGTGTGTGTGTGTGT		SFTPC	ENSG00000168484.13	transcript	ENST00000679463.1	protein_coding					1404		chr8	TogoVar
SFTPD_chr10_79932740_79954105	79933422	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02572.hp1 HG02615.hp2 others(5): Show HG01243.hp2 HG02572.hp1 HG02615.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp1 NA18998.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0008 a0001c0001 a0002c0005 a0002c0008	a0001c0001t0001 a0002c0005t0001 a0002c0008t0001 a0001c0001t0001 a0002c0005t0001 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0031 a0002c0005t0001g0014 a0002c0008t0001g0010	8	424	0.0189	18	c.44 others(29): Show c.4429_*4430insTAATAATAATAATAATAA		SFTPD	ENSG00000133661.17	transcript	ENST00000372292.8	protein_coding					4317		chr10	TogoVar
SFXN1_chr5_175473560_175534742	175505537	C C	CAATAATA others(11): Show CAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01192.hp2 others(3): Show HG00558.hp1 HG00642.hp1 HG01192.hp2 HG02896.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0044 a0001c0001t0001 a0001c0001t0044	a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0095 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0095 a0001c0001t0001g0115 a0001c0001t0001g0236 a0001c0001t0044g0010	6	372	0.0161	18	c.165 others(35): Show c.165-3476_165-3459dupAATAATAATAATAATAAT		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN4_chr10_119135767_119170714	119140431	T T	TGATCCAC others(11): Show TGATCCACTGACCTCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	432	0.0023	18	c.81 others(27): Show c.810_*811insGCCTGAGGTCAGTGGATC		SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding					335		chr10	TogoVar
SFXN5_chr2_72937036_73076712	73046057	A A	AAAAACAA others(11): Show AAAAACAACCATGGCTTCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG00738.hp2 others(72): Show HG00438.hp1 HG00735.hp1 HG00738.hp2 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG06807.hp1 NA18747.hp1 NA18948.hp1 NA18957.hp1 NA18959.hp1 NA18966.hp1 NA18977.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19074.hp1 NA19081.hp1 NA19088.hp2 NA19240.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0016 a0001c0003t0006 a0001c0003t0017 a0001c0004t0005 a0001c0006t0007 a0001c0009t0004 a0001c0010t0007 a0001c0011t0002 a0001c0012t0007 a0001c0014t0003 a0002c0005t0009	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 others(72): Show a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0002g0013 a0001c0001t0002g0032 a0001c0001t0003g0242 a0001c0001t0003g0248 a0001c0001t0004g0204 a0001c0001t0005g0014 a0001c0001t0005g0243 a0001c0001t0009g0012 a0001c0001t0014g0246 a0001c0001t0016g0249 a0001c0002t0001g0085 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0002g0023 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0086 a0001c0002t0002g0093 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0003g0017 a0001c0002t0003g0021 a0001c0002t0003g0030 a0001c0002t0003g0203 a0001c0002t0004g0005 a0001c0002t0005g0015 a0001c0002t0008g0027 a0001c0002t0009g0011 a0001c0002t0010g0234 a0001c0002t0010g0235 a0001c0002t0011g0084 a0001c0002t0012g0018 a0001c0002t0012g0091 a0001c0002t0016g0236 a0001c0003t0006g0016 a0001c0003t0006g0019 a0001c0003t0006g0020 a0001c0003t0006g0022 a0001c0003t0006g0201 a0001c0003t0006g0244 a0001c0003t0017g0024 a0001c0004t0005g0092 a0001c0004t0005g0245 a0001c0006t0007g0025 a0001c0006t0007g0202 a0001c0009t0004g0026 a0001c0010t0007g0247 a0001c0011t0002g0088 a0001c0012t0007g0087 a0001c0014t0003g0004 a0002c0005t0009g0002 a0002c0005t0009g0003	75	250	0.3000	18	c.172 others(35): Show c.172-5127_172-5126insGGAAGCCATGGTTGTTTT		SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13						chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02615.hp2 HG03017.hp1 others(1): Show HG02602.hp2 HG02615.hp2 HG03017.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0002g0032 others(1): Show a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0002g0032 a0001c0002t0001g0226	4	250	0.0160	18	c.171 others(35): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGCG		SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13						chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01981.hp2 others(7): Show HG00735.hp1 HG00738.hp2 HG01981.hp2 HG02083.hp1 HG02572.hp2 HG03471.hp1 NA18747.hp1 NA18966.hp1 NA18967.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0003t0006	a0001c0001t0014g0246 a0001c0002t0001g0040 a0001c0002t0001g0062 others(7): Show a0001c0001t0014g0246 a0001c0002t0001g0040 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0068 a0001c0002t0001g0214 a0001c0002t0002g0208 a0001c0002t0002g0212 a0001c0003t0006g0016 a0001c0003t0006g0020	10	250	0.0400	18	c.171 others(35): Show c.171+8139_171+8140insTGTGTGTGTGTGTGCGCG		SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13						chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCGC others(11): Show GCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02965.hp1 others(1): Show HG01884.hp2 HG02280.hp2 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0002t0003	a0001c0001t0003g0242 a0001c0001t0005g0243 a0001c0001t0016g0249 others(1): Show a0001c0001t0003g0242 a0001c0001t0005g0243 a0001c0001t0016g0249 a0001c0002t0003g0231	4	250	0.0160	18	c.171 others(35): Show c.171+8139_171+8140insTGTGTGTGTGTGCGCGCG		SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13						chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050420	A A	ACACACAC others(11): Show ACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02723.hp2 HG03139.hp2 HG01261.hp2 HG02723.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0028 a0001c0002t0002g0093 a0001c0002t0008g0027 a0001c0002t0002g0028 a0001c0002t0002g0093 a0001c0002t0008g0027	3	250	0.0120	18	c.171 others(35): Show c.171+8107_171+8108insGGTGTGTGTGTGTGTGTG		SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13						chr2	TogoVar
SGCA_chr17_50161005_50180928	50176651	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02818.hp1 others(3): Show HG01891.hp1 HG02280.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0015 a0001c0002t0003g0042 a0001c0002t0003g0093 others(1): Show a0001c0002t0003g0015 a0001c0002t0003g0042 a0001c0002t0003g0093 a0001c0002t0003g0117	6	416	0.0144	18	c.95 others(27): Show c.952_*953insAAAAAAAAAAAAAAAAAA		SGCA	ENSG00000108823.17	transcript	ENST00000262018.8	protein_coding					724		chr17	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	150	0.0067	18	c.192 others(35): Show c.192+5587_192+5588insATATATATATATATATAT		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156406018	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0010 a0001c0001t0012g0010	1	150	0.0067	18	c.192 others(37): Show c.192+61357_192+61358insAAAAAAAAAAAAAAAAAA		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156406790	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18990.hp1 NA19030.hp1 HG02040.hp2 NA18990.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0002 a0001c0002t0054 a0001c0001t0027 a0001c0002t0002 a0001c0002t0054	a0001c0001t0027g0011 a0001c0002t0002g0080 a0001c0002t0054g0073 a0001c0001t0027g0011 a0001c0002t0002g0080 a0001c0002t0054g0073	3	150	0.0200	18	c.192 others(37): Show c.192+62126_192+62143dupTATATATATATATATATA		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr5	TogoVar

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