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	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
SFMBT2_chr10_7153624_7416034	7311057	AAAAAAAC others(5): Show AAAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02258.hp2 others(2): Show HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02572.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0036 a0001c0001t0002 a0001c0001t0005 a0001c0001t0036	a0001c0001t0002g0112 a0001c0001t0005g0109 a0001c0001t0005g0110 others(2): Show a0001c0001t0002g0112 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0036g0019	5	144	0.0347	-12	c.437 others(31): Show c.437-25115_437-25104delGTTTTGTTTTTT		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7315038	GAGAAAGA others(5): Show GAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03490.hp2 NA20905.hp2 HG03453.hp1 HG03490.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0035 a0001c0002t0002 a0001c0001t0014 a0001c0001t0035 a0001c0002t0002	a0001c0001t0014g0060 a0001c0001t0035g0082 a0001c0002t0002g0100 a0001c0001t0014g0060 a0001c0001t0035g0082 a0001c0002t0002g0100	3	144	0.0208	-12	c.437 others(31): Show c.437-29096_437-29085delTTCTTTCTTTCT		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7315104	GAAAGAAA others(5): Show GAAAGAAAAAGCA	G G	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0032 a0001c0001t0030g0032	1	144	0.0069	-12	c.437 others(31): Show c.437-29162_437-29151delTGCTTTTTCTTT		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7342396	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp1 HG02257.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0099 a0001c0001t0004g0098 a0001c0001t0003g0099 a0001c0001t0004g0098	2	144	0.0139	-12	c.436 others(31): Show c.436+25241_436+25252delAAAAAAAAAAAA		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7375751	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03041.hp2 HG03209.hp1 others(2): Show HG02818.hp2 HG03041.hp2 HG03209.hp1 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0003t0006 a0001c0003t0025	a0001c0002t0001g0036 a0001c0002t0002g0037 a0001c0002t0012g0108 others(2): Show a0001c0002t0001g0036 a0001c0002t0002g0037 a0001c0002t0012g0108 a0001c0003t0006g0035 a0001c0003t0025g0034	5	144	0.0347	-12	c.101 others(29): Show c.101-5388_101-5377delTGTGTGTGTGTG		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7376727	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00738.hp2 others(18): Show HG00408.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01261.hp2 HG01928.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02300.hp1 HG02602.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03225.hp1 HG03516.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0028 a0001c0001t0038 a0001c0002t0004 a0001c0002t0012 a0001c0003t0026 a0002c0005t0001	a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0001g0140 others(18): Show a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0002g0095 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0115 a0001c0001t0004g0121 a0001c0001t0007g0068 a0001c0001t0008g0132 a0001c0001t0008g0143 a0001c0001t0014g0054 a0001c0001t0015g0135 a0001c0001t0016g0029 a0001c0001t0018g0062 a0001c0001t0028g0107 a0001c0001t0038g0144 a0001c0002t0004g0042 a0001c0002t0012g0073 a0001c0003t0026g0020 a0002c0005t0001g0130	21	144	0.1458	-12	c.100 others(29): Show c.100+5060_100+5071delTTTTTTTTTTTT		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7381070	CACATACA others(5): Show CACATACATACAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0118 a0001c0001t0011g0118	1	144	0.0069	-12	c.100 others(27): Show c.100+717_100+728delATGTATGTATGT		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7392983	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02300.hp1 HG00741.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0103 a0001c0001t0020g0129 a0001c0001t0001g0103 a0001c0001t0020g0129	2	144	0.0139	-12	c.-51 others(31): Show c.-51-11046_-51-11035delTATATATATATA		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	1/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7393024	TATATATA others(5): Show TATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0045 a0001c0001t0010g0045	1	144	0.0069	-12	c.-51 others(31): Show c.-51-11087_-51-11076delTTATATATATAT		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	1/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7411296	TCCTCCCC others(5): Show TCCTCCCCACCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 NA18983.hp1 NA18998.hp1 others(1): Show HG00408.hp1 NA18983.hp1 NA18998.hp1 NA18998.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0004c0008t0001	a0001c0001t0002g0084 a0001c0001t0003g0081 a0001c0001t0012g0080 others(1): Show a0001c0001t0002g0084 a0001c0001t0003g0081 a0001c0001t0012g0080 a0004c0008t0001g0124	4	144	0.0278	-12	c.-49 others(21): Show c.-499_-488delGCGGTGGGGAGG		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding					263		chr10	TogoVar
SFN_chr1_26858149_26869456	26868248	TTCTCTCT others(5): Show TTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01106.hp1 others(9): Show HG00642.hp1 HG01070.hp1 HG01106.hp1 HG01255.hp2 HG02486.hp2 HG03486.hp1 HG03831.hp1 HG04199.hp2 HG04204.hp1 NA19007.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014	a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(2): Show a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0009g0000 a0001c0001t0014g0000	12	332	0.0361	-12	c.42 others(23): Show c.4290_*4301delTCTCTCTCTCTC		SFN	ENSG00000175793.12	transcript	ENST00000339276.6	protein_coding					3793		chr1	TogoVar
SFRP1_chr8_41256962_41314473	41288530	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01168.hp1 others(11): Show HG01074.hp1 HG01099.hp2 HG01168.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG02148.hp1 HG02559.hp2 HG02647.hp2 HG03516.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0026 a0001c0001t0048 others(5): Show a0001c0001t0001 a0001c0001t0026 a0001c0001t0048 a0001c0003t0002 a0001c0004t0042 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0026 a0001c0001t0026g0021 a0001c0001t0048g0028 others(10): Show a0001c0001t0001g0026 a0001c0001t0026g0021 a0001c0001t0048g0028 a0001c0003t0002g0259 a0001c0004t0042g0011 a0002c0002t0001g0341 a0002c0002t0001g0350 a0002c0002t0002g0006 a0002c0002t0002g0348 a0002c0002t0002g0349 a0002c0002t0002g0355 a0002c0002t0002g0375 a0002c0002t0004g0338	14	384	0.0365	-12	c.622 others(31): Show c.622+14919_622+14930delTTTTTTTTTTTT		SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2						chr8	TogoVar
SFRP1_chr8_41256962_41314473	41290886	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	384	0.0026	-12	c.622 others(31): Show c.622+12563_622+12574delAAAAAAAAAAAA		SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2						chr8	TogoVar
SFRP1_chr8_41256962_41314473	41299499	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0219 a0001c0001t0012g0219	1	384	0.0026	-12	c.622 others(29): Show c.622+3950_622+3961delTTTTTTTTTTTT		SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2						chr8	TogoVar
SFRP1_chr8_41256962_41314473	41313346	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01123.hp1 HG00642.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0248 a0001c0001t0015g0242 a0001c0001t0003g0248 a0001c0001t0015g0242	2	384	0.0052	-12	c.-41 others(23): Show c.-4199_-4188delAAAAAAAAAAAA		SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding					3874		chr8	TogoVar
SFRP2_chr4_153775591_153794083	153789503	AGGGTGTG others(5): Show AGGGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	434	0.0023	-12	c.-68 others(21): Show c.-680_-669delACACACACACCC		SFRP2	ENSG00000145423.5	transcript	ENST00000274063.5	protein_coding					421		chr4	TogoVar
SFRP2_chr4_153775591_153794083	153789505	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00438.hp1 others(82): Show HG00099.hp2 HG00280.hp2 HG00438.hp1 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02055.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18971.hp1 NA18975.hp2 NA18982.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19009.hp1 NA19010.hp2 NA19055.hp1 NA19063.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19083.hp2 NA19085.hp1 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0014 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0022 a0001c0001t0003g0070 a0001c0001t0004g0029 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0027 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0003c0006t0001g0028	85	434	0.1959	-12	c.-68 others(21): Show c.-682_-671delACACACACACAC		SFRP2	ENSG00000145423.5	transcript	ENST00000274063.5	protein_coding					423		chr4	TogoVar
SFRP4_chr7_37900932_37921817	37905434	GTCTATCT others(5): Show GTCTATCTATCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(73): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00735.hp1 HG01081.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01978.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02135.hp1 HG02273.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02886.hp1 HG03041.hp1 HG03239.hp2 HG03486.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18955.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp2 NA19075.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0003c0002	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0001c0004t0006 a0001c0011t0001 a0003c0002t0002	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0003g0043 a0001c0004t0003g0060 a0001c0004t0006g0008 a0001c0004t0006g0011 a0001c0004t0006g0055 a0001c0011t0001g0025 a0003c0002t0002g0003 a0003c0002t0002g0009 a0003c0002t0002g0016	76	472	0.1610	-12	c.20 others(23): Show c.2033_*2044delTAGATAGATAGA		SFRP4	ENSG00000106483.12	transcript	ENST00000436072.7	protein_coding					497		chr7	TogoVar
SFRP4_chr7_37900932_37921817	37905480	CTATCTAT others(5): Show CTATCTATCATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00609.hp2 others(36): Show HG00099.hp2 HG00408.hp1 HG00609.hp2 HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01167.hp1 HG01496.hp1 HG02109.hp1 HG02630.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA18906.hp2 NA18949.hp1 NA18953.hp2 NA18960.hp1 NA18971.hp2 NA18974.hp2 NA18985.hp2 NA18986.hp2 NA18999.hp2 NA19003.hp1 NA19012.hp2 NA19056.hp1 NA19058.hp2 NA19066.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 others(2): Show a0001c0001 a0001c0004 a0002c0003 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0004t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0006 a0001c0004t0024 a0001c0004t0025 a0002c0003t0004 a0002c0005t0007 a0002c0005t0008 a0002c0006t0008 a0002c0006t0023	a0001c0001t0001g0031 a0001c0001t0003g0028 a0001c0004t0006g0008 others(7): Show a0001c0001t0001g0031 a0001c0001t0003g0028 a0001c0004t0006g0008 a0001c0004t0024g0057 a0001c0004t0025g0058 a0002c0003t0004g0001 a0002c0005t0007g0006 a0002c0005t0008g0029 a0002c0006t0008g0010 a0002c0006t0023g0065	39	472	0.0826	-12	c.19 others(23): Show c.1987_*1998delAGATGATAGATA		SFRP4	ENSG00000106483.12	transcript	ENST00000436072.7	protein_coding					451		chr7	TogoVar
SFRP4_chr7_37900932_37921817	37905484	CTATCATC others(5): Show CTATCATCTATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02165.hp1 others(7): Show HG01257.hp1 HG01258.hp1 HG02165.hp1 HG02970.hp1 HG03669.hp2 HG04184.hp1 HG04199.hp2 NA19064.hp2 NA19077.hp1 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0002 a0002c0005 a0003c0002	a0002c0005t0007 a0002c0005t0019 a0003c0002t0005 others(1): Show a0002c0005t0007 a0002c0005t0019 a0003c0002t0005 a0003c0002t0011	a0002c0005t0007g0006 a0002c0005t0019g0035 a0003c0002t0005g0005 others(1): Show a0002c0005t0007g0006 a0002c0005t0019g0035 a0003c0002t0005g0005 a0003c0002t0011g0015	10	472	0.0212	-12	c.19 others(23): Show c.1983_*1994delAGATAGATGATA		SFRP4	ENSG00000106483.12	transcript	ENST00000436072.7	protein_coding					447		chr7	TogoVar
SFRP4_chr7_37900932_37921817	37905497	ATCTATCT others(5): Show ATCTATCTGTCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0010 a0002c0006t0008g0010	1	472	0.0021	-12	c.19 others(23): Show c.1970_*1981delCAGACAGATAGA		SFRP4	ENSG00000106483.12	transcript	ENST00000436072.7	protein_coding					434		chr7	TogoVar
SFRP5_chr10_97761751_97776999	97772617	AGGTGCAA others(5): Show AGGTGCAAGGTGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 NA18522.hp1 HG03834.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0001 a0001c0005t0002g0035 a0001c0001t0001g0001 a0001c0005t0002g0035	2	380	0.0053	-12	c.-79 others(21): Show c.-796_-785delGCACCTTGCACC		SFRP5	ENSG00000120057.5	transcript	ENST00000266066.4	protein_coding					619		chr10	TogoVar
SFSWAP_chr12_131706090_131804738	131706880	CAAATAAA others(5): Show CAAATAAATAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00639.hp2 others(24): Show HG00099.hp2 HG00140.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01884.hp1 HG01978.hp1 HG02293.hp2 HG02683.hp2 HG02809.hp1 HG02886.hp1 HG03130.hp2 HG03669.hp2 HG03831.hp2 HG04204.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0124 a0001c0001t0001g0157 a0001c0001t0001g0179 others(24): Show a0001c0001t0001g0124 a0001c0001t0001g0157 a0001c0001t0001g0179 a0001c0001t0001g0230 a0001c0001t0003g0021 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0006t0001g0017 a0001c0007t0001g0284 a0001c0007t0001g0296	27	318	0.0849	-12	c.-43 others(23): Show c.-4349_-4338delAAATAAATAAAT		SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding					4209		chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131739536	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	318	0.0031	-12	c.108 others(33): Show c.1081+11125_1081+11136delTTTTTTTTTTTT		SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
SFT2D3_chr2_127696497_127710242	127702057	GTGGCCGC others(5): Show GTGGCCGCGCTGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0000 a0007c0007t0001g0000	2	386	0.0052	-12	c.541 others(19): Show c.541_552delCTGGCCGCGCTG	p.Leu others(13): Show p.Leu181_Leu184del	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding	1/1	573/3746	541/648	181/215		INFO_REALIGN_3_PRIME	chr2	TogoVar
SFTA2_chr6_30926353_30937170	30933439	CCCTCCCT others(5): Show CCCTCCCTCCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 NA19030.hp1 HG02698.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0005 a0001c0001t0003g0003 a0001c0001t0002g0005 a0001c0001t0003g0003	2	435	0.0046	-12	c.-13 others(23): Show c.-1355_-1344delAAGGGAGGGAGG		SFTA2	ENSG00000196260.5	transcript	ENST00000359086.4	protein_coding					1270		chr6	TogoVar
SFTPC_chr8_22156798_22169479	22157342	CCACAGCC others(5): Show CCACAGCCTGTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	466	0.0022	-12	c.-44 others(23): Show c.-4486_-4475delCACAGCCTGTTA		SFTPC	ENSG00000168484.13	transcript	ENST00000679463.1	protein_coding					4455		chr8	TogoVar
SFTPC_chr8_22156798_22169479	22165882	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19079.hp1 NA19077.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0003 a0001c0001t0001g0024	2	466	0.0043	-12	c.16 others(23): Show c.1636_*1647delGTGTGTGTGTGT		SFTPC	ENSG00000168484.13	transcript	ENST00000679463.1	protein_coding					1404		chr8	TogoVar
SFTPD_chr10_79932740_79954105	79945342	ATCCCATT others(5): Show ATCCCATTCACGT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0071 a0001c0011t0001g0071	1	424	0.0024	-12	c.199 others(29): Show c.199+1107_199+1118delACGTGAATGGGA		SFTPD	ENSG00000133661.17	transcript	ENST00000372292.8	protein_coding	2/7						chr10	TogoVar
SFTPD_chr10_79932740_79954105	79946087	GTTTAATT others(5): Show GTTTAATTAAATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(86): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01070.hp2 HG01123.hp1 HG01952.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02165.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG03209.hp1 HG03579.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19090.hp2 NA20752.hp2 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0007c0010t0001g0078	89	424	0.2099	-12	c.199 others(27): Show c.199+362_199+373delTATTTAATTAAA		SFTPD	ENSG00000133661.17	transcript	ENST00000372292.8	protein_coding	2/7						chr10	TogoVar
SFXN1_chr5_175473560_175534742	175500403	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0040 a0001c0007t0040	a0001c0007t0040g0178 a0001c0007t0040g0178	1	372	0.0027	-12	c.164 others(29): Show c.164+8176_164+8187delCACACACACACA		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175505537	CAATAATA others(5): Show CAATAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00597.hp1 others(114): Show HG00099.hp1 HG00423.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01993.hp1 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18984.hp1 NA18991.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19070.hp2 NA19078.hp1 NA19082.hp2 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0003c0008 a0005c0009	a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 others(27): Show a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0047 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0021 a0001c0002t0022 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0032 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0004t0006 a0001c0004t0038 a0002c0005t0023 a0003c0008t0022 a0005c0009t0033	a0001c0001t0009g0177 a0001c0001t0013g0056 a0001c0001t0013g0241 others(111): Show a0001c0001t0009g0177 a0001c0001t0013g0056 a0001c0001t0013g0241 a0001c0001t0013g0242 a0001c0001t0013g0251 a0001c0001t0013g0252 a0001c0001t0019g0057 a0001c0001t0019g0058 a0001c0001t0019g0059 a0001c0001t0047g0250 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0002g0076 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0137 a0001c0002t0002g0145 a0001c0002t0002g0180 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0199 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0226 a0001c0002t0002g0228 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0254 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0329 a0001c0002t0002g0331 a0001c0002t0002g0333 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0338 a0001c0002t0002g0345 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0002t0002g0350 a0001c0002t0002g0352 a0001c0002t0002g0361 a0001c0002t0002g0363 a0001c0002t0002g0365 a0001c0002t0003g0221 a0001c0002t0006g0121 a0001c0002t0006g0209 a0001c0002t0006g0212 a0001c0002t0006g0286 a0001c0002t0006g0288 a0001c0002t0006g0330 a0001c0002t0006g0339 a0001c0002t0011g0002 a0001c0002t0011g0201 a0001c0002t0011g0256 a0001c0002t0011g0257 a0001c0002t0012g0213 a0001c0002t0012g0225 a0001c0002t0012g0332 a0001c0002t0012g0357 a0001c0002t0015g0074 a0001c0002t0015g0075 a0001c0002t0015g0078 a0001c0002t0015g0089 a0001c0002t0021g0261 a0001c0002t0021g0262 a0001c0002t0022g0287 a0001c0002t0027g0051 a0001c0002t0028g0187 a0001c0002t0029g0334 a0001c0002t0030g0169 a0001c0002t0031g0260 a0001c0002t0032g0167 a0001c0002t0034g0356 a0001c0002t0035g0344 a0001c0002t0036g0270 a0001c0002t0037g0346 a0001c0002t0039g0015 a0001c0002t0041g0146 a0001c0002t0042g0077 a0001c0004t0006g0149 a0001c0004t0038g0029 a0002c0005t0023g0179 a0002c0005t0023g0181 a0003c0008t0022g0205 a0005c0009t0033g0364	117	372	0.3145	-12	c.165 others(29): Show c.165-3470_165-3459delAATAATAATAAT		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524119	AAAAAAAA others(5): Show AAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA20905.hp2 HG01255.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0302 a0001c0001t0003g0311 a0001c0001t0003g0302 a0001c0001t0003g0311	2	372	0.0054	-12	c.872 others(29): Show c.872+1699_872+1710delAAAAAATATATA		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524121	AAAAAATA others(5): Show AAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18945.hp1 NA18966.hp1 others(7): Show HG01952.hp2 NA18945.hp1 NA18966.hp1 NA18967.hp2 NA18990.hp1 NA18995.hp2 NA19002.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0016 a0001c0001t0003g0047 others(6): Show a0001c0001t0003g0006 a0001c0001t0003g0016 a0001c0001t0003g0047 a0001c0001t0003g0268 a0001c0001t0003g0303 a0001c0001t0003g0313 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0354	10	372	0.0269	-12	c.872 others(29): Show c.872+1701_872+1712delAAAATATATATA		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524123	AAAATATA others(5): Show AAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0315 a0001c0001t0003g0315	1	372	0.0027	-12	c.872 others(29): Show c.872+1703_872+1714delAATATATATATA		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524125	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01099.hp2 HG01261.hp1 others(6): Show HG00423.hp2 HG01099.hp2 HG01261.hp1 HG01993.hp2 HG02165.hp1 HG03669.hp2 HG03942.hp1 HG04228.hp2 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0043 a0001c0003t0007 a0001c0003t0043	a0001c0003t0007g0012 a0001c0003t0007g0063 a0001c0003t0007g0066 others(6): Show a0001c0003t0007g0012 a0001c0003t0007g0063 a0001c0003t0007g0066 a0001c0003t0007g0068 a0001c0003t0007g0070 a0001c0003t0007g0071 a0001c0003t0007g0135 a0001c0003t0007g0230 a0001c0003t0043g0013	9	372	0.0242	-12	c.872 others(29): Show c.872+1738_872+1749delATATATATATAT		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN3_chr10_101026234_101046241	101026663	TCACACAC others(5): Show TCACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02970.hp1 HG03139.hp2 others(3): Show HG00639.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0030	a0001c0001t0001g0013 a0001c0001t0002g0066 a0001c0001t0004g0003 others(1): Show a0001c0001t0001g0013 a0001c0001t0002g0066 a0001c0001t0004g0003 a0001c0001t0030g0046	6	444	0.0135	-12	c.-50 others(23): Show c.-5043_-5032delCACACACACACA		SFXN3	ENSG00000107819.15	transcript	ENST00000393459.6	protein_coding					4570		chr10	TogoVar
SFXN3_chr10_101026234_101046241	101028024	CTTATCAG others(5): Show CTTATCAGTTACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	-12	c.-36 others(23): Show c.-3682_-3671delTTATCAGTTACT		SFXN3	ENSG00000107819.15	transcript	ENST00000393459.6	protein_coding					3209		chr10	TogoVar
SFXN3_chr10_101026234_101046241	101044717	CATATATA others(5): Show CATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	444	0.0023	-12	c.51 others(23): Show c.5133_*5144delATATATATATAT		SFXN3	ENSG00000107819.15	transcript	ENST00000393459.6	protein_coding					3477		chr10	TogoVar
SFXN5_chr2_72937036_73076712	72946135	ACTCCGGG others(5): Show ACTCCGGGGCCCC	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	250	0.0040	-12	c.946 others(29): Show c.946-1048_946-1037delGGGGCCCCGGAG		SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	13/13						chr2	TogoVar
SFXN5_chr2_72937036_73076712	73012649	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG01261.hp2 others(5): Show HG01099.hp2 HG01109.hp1 HG01261.hp2 HG02723.hp2 HG02922.hp1 HG03139.hp2 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 others(2): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0012 a0001c0003t0006	a0001c0002t0002g0023 a0001c0002t0002g0028 a0001c0002t0002g0029 others(5): Show a0001c0002t0002g0023 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0093 a0001c0002t0003g0030 a0001c0002t0008g0027 a0001c0002t0012g0091 a0001c0003t0006g0019	8	250	0.0320	-12	c.357 others(29): Show c.357+7578_357+7589delGTGTGTGTGTGT		SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	6/13						chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047219	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02071.hp2 HG02647.hp1 others(20): Show HG00438.hp1 HG02071.hp2 HG02647.hp1 HG02895.hp2 HG02897.hp1 HG03453.hp1 HG03516.hp2 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 NA19056.hp1 NA19074.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0006 others(1): Show a0001c0002 a0001c0003 a0001c0006 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0006 a0001c0006t0007 a0002c0005t0009	a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 others(20): Show a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0214 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0212 a0001c0002t0003g0203 a0001c0003t0006g0201 a0001c0006t0007g0202 a0002c0005t0009g0002 a0002c0005t0009g0003	23	250	0.0920	-12	c.172 others(29): Show c.172-6300_172-6289delTTTTTTTTTTTT		SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13						chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047235	AAAAAAAA others(5): Show AAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp1 HG03098.hp1 others(1): Show HG02572.hp1 HG02717.hp1 HG03098.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002	a0001c0001t0004g0204 a0001c0002t0001g0085 a0001c0002t0002g0086 others(1): Show a0001c0001t0004g0204 a0001c0002t0001g0085 a0001c0002t0002g0086 a0001c0002t0002g0211	4	250	0.0160	-12	c.172 others(29): Show c.172-6316_172-6305delATTTTTTTTTTT		SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13						chr2	TogoVar
SGCA_chr17_50161005_50180928	50166931	ACACACAC others(5): Show ACACACACACCCT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18975.hp1 NA19072.hp1 NA18747.hp2 NA18975.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	3	416	0.0072	-12	c.38- others(25): Show c.38-423_38-412delACACACACCCTC		SGCA	ENSG00000108823.17	transcript	ENST00000262018.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
SGCB_chr4_52015706_52043299	52031406	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0114 a0001c0001t0015g0114	1	368	0.0027	-12	c.244 others(29): Show c.244-1555_244-1544delCACACACACACA		SGCB	ENSG00000163069.13	transcript	ENST00000381431.10	protein_coding	2/5						chr4	TogoVar
SGCD_chr5_156322164_156772788	156346929	CTGGGACT others(5): Show CTGGGACTACAGG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	150	0.0067	-12	c.192 others(29): Show c.192+2255_192+2266delGGACTACAGGTG		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156406790	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0111 a0001c0002t0052g0111	1	150	0.0067	-12	c.192 others(31): Show c.192+62132_192+62143delTATATATATATA		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156406815	TATATACA others(5): Show TATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0004 a0001c0001t0039g0004	1	150	0.0067	-12	c.192 others(31): Show c.192+62140_192+62151delTATACACACACA		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156444064	TTCTCTCT others(5): Show TTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02083.hp2 HG02897.hp2 others(2): Show HG01081.hp1 HG02083.hp2 HG02897.hp2 HG03453.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0053 a0001c0001t0001 a0001c0001t0003 a0001c0002t0053	a0001c0001t0001g0019 a0001c0001t0001g0122 a0001c0001t0003g0013 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0122 a0001c0001t0003g0013 a0001c0001t0003g0022 a0001c0002t0053g0085	5	150	0.0333	-12	c.193 others(31): Show c.193-64496_193-64485delTCTCTCTCTCTC		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156444105	TCTCTCTC others(5): Show TCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp1 HG03041.hp2 others(2): Show HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0042 a0001c0001t0006 a0001c0001t0022 a0001c0001t0042	a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0066 others(2): Show a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0066 a0001c0001t0022g0064 a0001c0001t0042g0065	5	150	0.0333	-12	c.193 others(31): Show c.193-64494_193-64483delTCTCTCTCTCCC		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr5	TogoVar

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