Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPRY3_chrX_155607586_155787459	155624517	C C	CTATCATC others(1): Show CTATCATCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG02451.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0036 a0001c0001t0007 a0001c0001t0036	a0001c0001t0007g0099 a0001c0001t0036g0098 a0001c0001t0007g0099 a0001c0001t0036g0098	2	231	0.0087	8	c.-28 others(29): Show c.-282+11870_-282+11871insTATCATCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY3_chrX_155607586_155787459	155632219	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG02258.hp1 others(17): Show HG01243.hp1 HG01496.hp2 HG02258.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp2 HG04184.hp2 NA18940.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0001t0040 a0001c0001t0068 a0001c0001t0069 a0001c0001t0075 a0001c0001t0080 a0001c0001t0083 a0001c0001t0093 a0001c0001t0099 a0001c0001t0110 a0001c0001t0136 a0001c0002t0029 a0001c0002t0052 a0001c0002t0076 a0003c0005t0046	a0001c0001t0002g0216 a0001c0001t0003g0110 a0001c0001t0007g0131 others(17): Show a0001c0001t0002g0216 a0001c0001t0003g0110 a0001c0001t0007g0131 a0001c0001t0019g0208 a0001c0001t0020g0120 a0001c0001t0020g0128 a0001c0001t0040g0129 a0001c0001t0068g0206 a0001c0001t0069g0109 a0001c0001t0075g0141 a0001c0001t0080g0130 a0001c0001t0083g0217 a0001c0001t0093g0140 a0001c0001t0099g0095 a0001c0001t0110g0175 a0001c0001t0136g0192 a0001c0002t0029g0121 a0001c0002t0052g0176 a0001c0002t0076g0103 a0003c0005t0046g0218	20	231	0.0866	8	c.-28 others(29): Show c.-282+19592_-282+19599dupACACACAC	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155638293	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG00642.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0029 a0001c0001t0010 a0001c0002t0029	a0001c0001t0010g0083 a0001c0002t0029g0052 a0001c0001t0010g0083 a0001c0002t0029g0052	2	231	0.0087	8	c.-28 others(29): Show c.-282+25715_-282+25722dupATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155649974	T T	TAAACAAA others(1): Show TAAACAAAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0105 a0001c0002t0054g0105	1	231	0.0043	8	c.-28 others(29): Show c.-282+37328_-282+37329insAACAAACA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155659104	C C	CTTCTTTC others(1): Show CTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG01346.hp2 others(39): Show HG00544.hp2 HG00642.hp1 HG01346.hp2 HG01884.hp2 HG01952.hp1 HG02004.hp2 HG02109.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02809.hp1 HG02809.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03704.hp1 HG04184.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18959.hp1 NA18971.hp1 NA18984.hp1 NA19065.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(34): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030 a0001c0001t0035 a0001c0001t0060 a0001c0001t0063 a0001c0001t0065 a0001c0001t0070 a0001c0001t0072 a0001c0001t0077 a0001c0001t0082 a0001c0001t0088 a0001c0001t0091 a0001c0001t0092 a0001c0001t0095 a0001c0001t0096 a0001c0001t0102 a0001c0001t0104 a0001c0001t0123 a0001c0001t0149 a0001c0002t0028 a0001c0002t0029 a0001c0002t0045 a0001c0002t0084 a0001c0002t0094 a0001c0002t0100 a0001c0002t0101	a0001c0001t0003g0082 a0001c0001t0004g0061 a0001c0001t0004g0126 others(39): Show a0001c0001t0003g0082 a0001c0001t0004g0061 a0001c0001t0004g0126 a0001c0001t0004g0156 a0001c0001t0005g0065 a0001c0001t0006g0030 a0001c0001t0007g0084 a0001c0001t0007g0099 a0001c0001t0008g0003 a0001c0001t0008g0005 a0001c0001t0009g0157 a0001c0001t0010g0001 a0001c0001t0010g0149 a0001c0001t0011g0191 a0001c0001t0016g0138 a0001c0001t0024g0091 a0001c0001t0027g0026 a0001c0001t0030g0006 a0001c0001t0035g0125 a0001c0001t0060g0223 a0001c0001t0063g0057 a0001c0001t0065g0056 a0001c0001t0070g0038 a0001c0001t0072g0028 a0001c0001t0077g0078 a0001c0001t0082g0122 a0001c0001t0088g0185 a0001c0001t0091g0016 a0001c0001t0092g0076 a0001c0001t0095g0035 a0001c0001t0096g0055 a0001c0001t0102g0209 a0001c0001t0104g0049 a0001c0001t0123g0009 a0001c0001t0149g0151 a0001c0002t0028g0069 a0001c0002t0029g0052 a0001c0002t0045g0054 a0001c0002t0084g0020 a0001c0002t0094g0051 a0001c0002t0100g0032 a0001c0002t0101g0024	42	231	0.1818	8	c.-28 others(29): Show c.-282+46504_-282+46511dupCTTTCTTT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155680145	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00544.hp1 others(14): Show HG00140.hp1 HG00423.hp2 HG00544.hp1 HG00673.hp1 HG01109.hp1 HG02451.hp2 HG02523.hp2 HG02896.hp1 HG03139.hp1 HG03516.hp2 NA18522.hp1 NA18906.hp1 NA18944.hp1 NA18961.hp1 NA19011.hp2 NA19081.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 others(14): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0038 a0001c0001t0064 a0001c0001t0108 a0001c0001t0117 a0001c0001t0130 a0001c0001t0137 a0001c0002t0028 a0001c0002t0100 a0001c0002t0101 a0001c0002t0121 a0001c0002t0126	a0001c0001t0003g0082 a0001c0001t0007g0084 a0001c0001t0019g0068 others(14): Show a0001c0001t0003g0082 a0001c0001t0007g0084 a0001c0001t0019g0068 a0001c0001t0023g0080 a0001c0001t0024g0091 a0001c0001t0030g0027 a0001c0001t0038g0047 a0001c0001t0064g0066 a0001c0001t0108g0064 a0001c0001t0117g0063 a0001c0001t0130g0154 a0001c0001t0137g0062 a0001c0002t0028g0067 a0001c0002t0100g0032 a0001c0002t0101g0024 a0001c0002t0121g0010 a0001c0002t0126g0036	17	231	0.0736	8	c.-28 others(29): Show c.-282+67537_-282+67544dupGTGTGTGT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155697522	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG02109.hp1 others(6): Show HG00642.hp1 HG01081.hp1 HG02109.hp1 HG02129.hp1 HG02486.hp1 HG02559.hp1 HG03041.hp1 HG04184.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0042 a0001c0001t0053 others(6): Show a0001c0001t0010 a0001c0001t0042 a0001c0001t0053 a0001c0001t0071 a0001c0001t0079 a0001c0001t0111 a0001c0001t0135 a0001c0002t0029 a0001c0002t0045	a0001c0001t0010g0001 a0001c0001t0042g0070 a0001c0001t0053g0053 others(6): Show a0001c0001t0010g0001 a0001c0001t0042g0070 a0001c0001t0053g0053 a0001c0001t0071g0088 a0001c0001t0079g0025 a0001c0001t0111g0050 a0001c0001t0135g0089 a0001c0002t0029g0052 a0001c0002t0045g0054	9	231	0.0390	8	c.-28 others(29): Show c.-281-70439_-281-70438insCACACATA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155697522	C C	CACACATA others(1): Show CACACATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00673.hp1 others(59): Show HG00423.hp2 HG00544.hp2 HG00673.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01258.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02145.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02976.hp2 HG03130.hp1 HG03486.hp2 HG03516.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG06807.hp1 NA18906.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18990.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0044 a0001c0001t0047 a0001c0001t0049 a0001c0001t0059 a0001c0001t0064 a0001c0001t0067 a0001c0001t0072 a0001c0001t0078 a0001c0001t0085 a0001c0001t0086 a0001c0001t0089 a0001c0001t0091 a0001c0001t0095 a0001c0001t0097 a0001c0001t0106 a0001c0001t0108 a0001c0001t0113 a0001c0001t0115 a0001c0001t0117 a0001c0001t0123 a0001c0001t0137 a0001c0002t0028 a0001c0002t0074 a0001c0002t0084 a0001c0002t0100 a0001c0002t0101 a0001c0002t0138	a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0044 others(59): Show a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0003g0015 a0001c0001t0004g0061 a0001c0001t0005g0065 a0001c0001t0005g0092 a0001c0001t0006g0011 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0048 a0001c0001t0007g0084 a0001c0001t0007g0086 a0001c0001t0008g0003 a0001c0001t0008g0005 a0001c0001t0012g0002 a0001c0001t0013g0022 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0015g0075 a0001c0001t0018g0033 a0001c0001t0018g0034 a0001c0001t0019g0068 a0001c0001t0023g0046 a0001c0001t0023g0080 a0001c0001t0024g0091 a0001c0001t0027g0026 a0001c0001t0030g0006 a0001c0001t0030g0027 a0001c0001t0031g0031 a0001c0001t0031g0037 a0001c0001t0044g0074 a0001c0001t0047g0040 a0001c0001t0049g0081 a0001c0001t0059g0119 a0001c0001t0064g0066 a0001c0001t0067g0094 a0001c0001t0072g0028 a0001c0001t0078g0087 a0001c0001t0085g0043 a0001c0001t0086g0090 a0001c0001t0089g0072 a0001c0001t0091g0016 a0001c0001t0095g0035 a0001c0001t0097g0058 a0001c0001t0106g0018 a0001c0001t0108g0064 a0001c0001t0113g0019 a0001c0001t0115g0100 a0001c0001t0117g0063 a0001c0001t0123g0009 a0001c0001t0137g0062 a0001c0002t0028g0067 a0001c0002t0028g0069 a0001c0002t0074g0008 a0001c0002t0084g0020 a0001c0002t0100g0032 a0001c0002t0101g0024 a0001c0002t0138g0017	62	231	0.2684	8	c.-28 others(29): Show c.-281-70439_-281-70438insCACATATA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155697522	C C	CACATATA others(1): Show CACATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03139.hp1 others(1): Show HG02895.hp1 HG02897.hp1 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0001t0077 a0001c0002t0121 a0001c0001t0021 a0001c0001t0077 a0001c0002t0121	a0001c0001t0021g0059 a0001c0001t0021g0060 a0001c0001t0077g0078 others(1): Show a0001c0001t0021g0059 a0001c0001t0021g0060 a0001c0001t0077g0078 a0001c0002t0121g0010	4	231	0.0173	8	c.-28 others(29): Show c.-281-70439_-281-70438insCATATATA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155716981	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03195.hp1 HG03654.hp1 others(1): Show HG03098.hp1 HG03195.hp1 HG03654.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0081 a0001c0001t0082 others(1): Show a0001c0001t0019 a0001c0001t0081 a0001c0001t0082 a0001c0001t0120	a0001c0001t0019g0208 a0001c0001t0081g0108 a0001c0001t0082g0122 others(1): Show a0001c0001t0019g0208 a0001c0001t0081g0108 a0001c0001t0082g0122 a0001c0001t0120g0199	4	231	0.0173	8	c.-28 others(29): Show c.-281-50957_-281-50950dupTATATATA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155773307	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02148.hp2 HG03195.hp1 others(2): Show HG01496.hp2 HG02148.hp2 HG03195.hp1 NA18957.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0050 others(1): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0050 a0001c0001t0082	a0001c0001t0002g0004 a0001c0001t0002g0216 a0001c0001t0017g0171 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0216 a0001c0001t0017g0171 a0001c0001t0050g0155 a0001c0001t0082g0122	5	231	0.0217	8	c.-10 others(25): Show c.-106-432_-106-425dupATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155773307	G G	GTTATATA others(1): Show GTTATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01943.hp1 NA18961.hp1 others(3): Show HG01496.hp1 HG01943.hp1 NA18961.hp1 NA18984.hp1 NA18989.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0062 a0001c0001t0112 others(3): Show a0001c0001t0030 a0001c0001t0062 a0001c0001t0112 a0001c0001t0119 a0001c0001t0149 a0001c0001t0150	a0001c0001t0030g0027 a0001c0001t0062g0201 a0001c0001t0112g0213 others(3): Show a0001c0001t0030g0027 a0001c0001t0062g0201 a0001c0001t0112g0213 a0001c0001t0119g0173 a0001c0001t0149g0151 a0001c0001t0150g0231	6	231	0.0260	8	c.-10 others(25): Show c.-106-459_-106-458insTTATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	2/2			chrX	TogoVar
SPRY3_chrX_155607586_155787459	155786789	T T	TTTTATTT others(1): Show TTTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0138 a0001c0002t0138	a0001c0002t0138g0017 a0001c0002t0138g0017	1	231	0.0043	8	c.12 others(21): Show c.12051_*12052insTTTATTTA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding		4331		chrX	TogoVar
SPRY4_chr5_142305430_142330021	142311935	G G	GGTGTGTG others(1): Show GGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp1 HG01123.hp1 HG01358.hp1 others(9): Show HG01074.hp1 HG01123.hp1 HG01358.hp1 HG01884.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG03516.hp2 NA18747.hp1 NA19054.hp1 NA19066.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0026 a0001c0001t0038 others(2): Show a0001c0001t0016 a0001c0001t0026 a0001c0001t0038 a0001c0001t0075 a0001c0001t0076	a0001c0001t0016g0010 a0001c0001t0026g0169 a0001c0001t0026g0186 others(5): Show a0001c0001t0016g0010 a0001c0001t0026g0169 a0001c0001t0026g0186 a0001c0001t0026g0223 a0001c0001t0038g0121 a0001c0001t0038g0170 a0001c0001t0075g0090 a0001c0001t0076g0221	12	378	0.0318	8	c.22 others(19): Show c.2266_*2273dupACACACAC	SPRY4	ENSG00000187678.10	transcript	ENST00000434127.3	protein_coding	2/2	2273		chr5	TogoVar
SPSB4_chr3_141046347_141153611	141082618	G G	GCTATCTA others(1): Show GCTATCTAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00597.hp1 others(28): Show HG00544.hp2 HG00558.hp2 HG00597.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG02055.hp2 HG02280.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02717.hp1 HG02886.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18941.hp2 NA18946.hp2 NA18957.hp2 NA18979.hp1 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0001t0035 a0001c0001t0056 a0001c0002t0003 a0001c0002t0008 a0001c0002t0026 a0001c0005t0042 a0002c0004t0045	a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0036 others(25): Show a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0036 a0001c0001t0002g0084 a0001c0001t0002g0139 a0001c0001t0002g0161 a0001c0001t0002g0194 a0001c0001t0004g0141 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0006g0191 a0001c0001t0009g0147 a0001c0001t0009g0148 a0001c0001t0009g0200 a0001c0001t0015g0178 a0001c0001t0015g0188 a0001c0001t0015g0189 a0001c0001t0018g0001 a0001c0001t0020g0145 a0001c0001t0027g0235 a0001c0001t0028g0048 a0001c0001t0035g0216 a0001c0001t0056g0176 a0001c0002t0003g0005 a0001c0002t0008g0224 a0001c0002t0026g0142 a0001c0005t0042g0245 a0002c0004t0045g0240	31	254	0.1221	8	c.694 others(27): Show c.694+15859_694+15866dupATCTATCT	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPSB4_chr3_141046347_141153611	141082618	G G	GCTATGTA others(1): Show GCTATGTAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01175.hp1 HG03195.hp1 others(3): Show HG00597.hp2 HG01175.hp1 HG03195.hp1 HG03704.hp2 NA19012.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0063 a0001c0002t0001 a0001c0002t0005 others(2): Show a0001c0001t0063 a0001c0002t0001 a0001c0002t0005 a0001c0002t0014 a0001c0002t0021	a0001c0001t0063g0067 a0001c0002t0001g0065 a0001c0002t0001g0086 others(3): Show a0001c0001t0063g0067 a0001c0002t0001g0065 a0001c0002t0001g0086 a0001c0002t0005g0121 a0001c0002t0014g0031 a0001c0002t0021g0089	6	254	0.0236	8	c.694 others(27): Show c.694+15824_694+15825insGTATCTAT	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPSB4_chr3_141046347_141153611	141112644	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00558.hp2 others(15): Show HG00544.hp1 HG00544.hp2 HG00558.hp2 HG01258.hp2 HG01515.hp2 HG02015.hp1 HG02155.hp1 HG02155.hp2 HG02602.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 NA18612.hp2 NA18946.hp2 NA18964.hp1 NA19000.hp2 NA19012.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0028 a0001c0001t0035 a0001c0002t0001 a0001c0002t0003 a0001c0002t0021 a0001c0002t0032 a0001c0003t0017 a0001c0005t0042 a0002c0004t0046	a0001c0001t0002g0218 a0001c0001t0004g0192 a0001c0001t0006g0008 others(13): Show a0001c0001t0002g0218 a0001c0001t0004g0192 a0001c0001t0006g0008 a0001c0001t0006g0191 a0001c0001t0028g0018 a0001c0001t0028g0048 a0001c0001t0035g0216 a0001c0002t0001g0128 a0001c0002t0003g0005 a0001c0002t0021g0011 a0001c0002t0021g0089 a0001c0002t0021g0100 a0001c0002t0032g0010 a0001c0003t0017g0219 a0001c0005t0042g0245 a0002c0004t0046g0239	18	254	0.0709	8	c.695 others(27): Show c.695-34480_695-34473dupAAAAAAAA	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTA1_chr1_158605704_158691715	158611131	G G	GCACACAC others(1): Show GCACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00741.hp1 others(12): Show HG00639.hp1 HG00735.hp1 HG00741.hp1 HG01358.hp2 HG01884.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG03195.hp2 HG03486.hp1 HG03491.hp2 HG06807.hp1 NA18948.hp2 NA19000.hp2 NA19085.hp1	a0003 a0008 a0013 others(2): Show a0003 a0008 a0013 a0028 a0040	a0003c0003 a0003c0005 a0003c0024 others(5): Show a0003c0003 a0003c0005 a0003c0024 a0008c0016 a0013c0059 a0013c0098 a0028c0077 a0040c0062	a0003c0003t0022 a0003c0003t0025 a0003c0003t0036 others(8): Show a0003c0003t0022 a0003c0003t0025 a0003c0003t0036 a0003c0005t0021 a0003c0005t0022 a0003c0024t0025 a0008c0016t0029 a0013c0059t0061 a0013c0098t0021 a0028c0077t0022 a0040c0062t0060	a0003c0003t0022g0021 a0003c0003t0025g0267 a0003c0003t0036g0186 others(12): Show a0003c0003t0022g0021 a0003c0003t0025g0267 a0003c0003t0036g0186 a0003c0003t0036g0319 a0003c0005t0021g0061 a0003c0005t0021g0111 a0003c0005t0022g0048 a0003c0024t0025g0254 a0003c0024t0025g0255 a0008c0016t0029g0162 a0008c0016t0029g0163 a0013c0059t0061g0331 a0013c0098t0021g0167 a0028c0077t0022g0132 a0040c0062t0060g0335	15	370	0.0405	8	c.12 others(17): Show c.125_*132dupTGTGTGTG	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	52/52	132		chr1	TogoVar
SPTA1_chr1_158605704_158691715	158629187	C C	CTCTATCT others(1): Show CTCTATCTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp2 HG02083.hp1 others(13): Show HG00733.hp2 HG01109.hp2 HG02083.hp1 HG02280.hp1 HG02738.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 NA18983.hp1 NA18999.hp1 NA19070.hp2 NA19078.hp2 NA19084.hp1 NA19240.hp2	a0001 a0002 a0033 others(6): Show a0001 a0002 a0033 a0049 a0050 a0052 a0054 a0056 a0071	a0001c0001 a0002c0002 a0033c0076 others(6): Show a0001c0001 a0002c0002 a0033c0076 a0049c0069 a0050c0063 a0052c0066 a0054c0065 a0056c0037 a0071c0088	a0001c0001t0004 a0002c0002t0001 a0002c0002t0032 others(7): Show a0001c0001t0004 a0002c0002t0001 a0002c0002t0032 a0033c0076t0008 a0049c0069t0045 a0050c0063t0001 a0052c0066t0027 a0054c0065t0059 a0056c0037t0027 a0071c0088t0027	a0001c0001t0004g0037 a0002c0002t0001g0010 a0002c0002t0001g0012 others(11): Show a0001c0001t0004g0037 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0198 a0002c0002t0001g0224 a0002c0002t0001g0230 a0002c0002t0032g0177 a0033c0076t0008g0156 a0049c0069t0045g0159 a0050c0063t0001g0259 a0052c0066t0027g0325 a0054c0065t0059g0341 a0056c0037t0027g0345 a0071c0088t0027g0326	16	370	0.0432	8	c.556 others(27): Show c.5566-1472_5566-1465dupTAGATAGA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	39/51			chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01167.hp1 HG01169.hp2 others(5): Show HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01515.hp2 HG01517.hp2 HG04204.hp1 HG04228.hp1 NA18948.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0005 a0001c0001 a0003c0003 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0003c0003t0003 a0003c0005t0028	a0001c0001t0002g0130 a0001c0001t0004g0007 a0001c0001t0004g0142 others(4): Show a0001c0001t0002g0130 a0001c0001t0004g0007 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0005g0075 a0003c0003t0003g0308 a0003c0005t0028g0141	8	370	0.0216	8	c.258 others(27): Show c.2587+1684_2587+1691dupAAAAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTA1_chr1_158605704_158691715	158686557	C C	CAGAGAGA others(1): Show CAGAGAGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01261.hp1 HG02738.hp1 HG03669.hp2 HG01261.hp1 HG02738.hp1 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0052 a0002c0002t0032 a0002c0002t0052	a0002c0002t0032g0177 a0002c0002t0032g0179 a0002c0002t0052g0178 a0002c0002t0032g0177 a0002c0002t0032g0179 a0002c0002t0052g0178	3	370	0.0081	8	c.-48 others(15): Show c.-48_-41dupCTCTCTCT	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	1/52	41		chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128606374	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG00621.hp2 others(80): Show HG00423.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03654.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 NA18522.hp2 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18955.hp1 NA18964.hp1 NA18967.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19009.hp2 NA19057.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0012 a0001c0013 a0001c0018 a0001c0026 a0001c0029 a0001c0031 a0002c0004 a0003c0011 a0007c0034	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0008t0001 a0001c0012t0001 a0001c0013t0001 a0001c0018t0004 a0001c0026t0001 a0001c0029t0001 a0001c0031t0001 a0002c0004t0002 a0003c0011t0001 a0007c0034t0001	a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0035 others(80): Show a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0303 a0001c0002t0001g0002 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0226 a0001c0002t0001g0229 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0253 a0001c0002t0001g0259 a0001c0002t0001g0261 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0003t0001g0123 a0001c0008t0001g0167 a0001c0008t0001g0168 a0001c0008t0001g0171 a0001c0012t0001g0120 a0001c0013t0001g0164 a0001c0018t0004g0189 a0001c0026t0001g0198 a0001c0029t0001g0159 a0001c0031t0001g0077 a0002c0004t0002g0277 a0002c0004t0002g0279 a0002c0004t0002g0281 a0002c0004t0002g0282 a0002c0004t0002g0283 a0003c0011t0001g0060 a0007c0034t0001g0243	83	312	0.2660	8	c.404 others(25): Show c.4046+908_4046+915dupAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	31/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128622737	G G	GTTTATTT others(1): Show GTTTATTTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp2 HG01167.hp2 others(7): Show HG01069.hp1 HG01109.hp2 HG01167.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02970.hp2 HG03139.hp1 HG03453.hp2 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0017 a0001c0002 a0001c0006 a0001c0017	a0001c0002t0001 a0001c0006t0001 a0001c0017t0006 a0001c0002t0001 a0001c0006t0001 a0001c0017t0006	a0001c0002t0001g0242 a0001c0006t0001g0292 a0001c0006t0001g0293 others(7): Show a0001c0002t0001g0242 a0001c0006t0001g0292 a0001c0006t0001g0293 a0001c0006t0001g0294 a0001c0006t0001g0295 a0001c0006t0001g0296 a0001c0006t0001g0297 a0001c0006t0001g0298 a0001c0006t0001g0299 a0001c0017t0006g0012	10	312	0.0321	8	c.583 others(27): Show c.5832+1505_5832+1512dupATTTATTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	45/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54465637	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01257.hp1 others(9): Show HG01167.hp1 HG01169.hp2 HG01257.hp1 HG01975.hp1 HG02055.hp1 HG02055.hp2 HG02135.hp1 HG02809.hp2 HG03098.hp1 HG03540.hp2 NA19005.hp1 NA19055.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0012 a0002c0006 a0014c0022	a0001c0001t0018 a0001c0002t0001 a0001c0002t0006 others(7): Show a0001c0001t0018 a0001c0002t0001 a0001c0002t0006 a0001c0003t0003 a0001c0005t0031 a0001c0008t0005 a0001c0009t0007 a0001c0012t0016 a0002c0006t0003 a0014c0022t0002	a0001c0001t0018g0303 a0001c0002t0001g0337 a0001c0002t0006g0278 others(9): Show a0001c0001t0018g0303 a0001c0002t0001g0337 a0001c0002t0006g0278 a0001c0003t0003g0305 a0001c0005t0031g0187 a0001c0008t0005g0306 a0001c0009t0007g0288 a0001c0009t0007g0289 a0001c0009t0007g0336 a0001c0012t0016g0153 a0002c0006t0003g0188 a0014c0022t0002g0090	12	370	0.0324	8	c.-48 others(25): Show c.-48+9119_-48+9120insATATATAT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54465639	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02451.hp1 others(5): Show HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02809.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008	a0001c0001t0050 a0001c0002t0006 a0001c0005t0008 others(2): Show a0001c0001t0050 a0001c0002t0006 a0001c0005t0008 a0001c0007t0013 a0001c0008t0005	a0001c0001t0050g0242 a0001c0002t0006g0149 a0001c0005t0008g0176 others(5): Show a0001c0001t0050g0242 a0001c0002t0006g0149 a0001c0005t0008g0176 a0001c0005t0008g0368 a0001c0007t0013g0108 a0001c0008t0005g0046 a0001c0008t0005g0243 a0001c0008t0005g0260	8	370	0.0216	8	c.-48 others(25): Show c.-48+9144_-48+9151dupATATATAT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54472022	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG01123.hp1 others(21): Show HG00423.hp1 HG00438.hp1 HG01123.hp1 HG01175.hp1 HG01361.hp1 HG01981.hp2 HG02135.hp2 HG02145.hp2 HG02738.hp1 HG02886.hp1 HG03471.hp2 HG03579.hp2 HG03831.hp1 HG04115.hp2 NA18940.hp1 NA18986.hp1 NA19010.hp2 NA19030.hp1 NA19056.hp2 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19086.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0004 others(7): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0029 a0003c0030	a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 others(13): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0003t0003 a0001c0003t0009 a0001c0003t0027 a0001c0003t0032 a0001c0003t0033 a0001c0004t0004 a0001c0005t0043 a0001c0007t0013 a0001c0008t0005 a0001c0011t0003 a0001c0012t0016 a0001c0029t0006 a0003c0030t0003	a0001c0002t0001g0359 a0001c0002t0004g0101 a0001c0002t0006g0159 others(21): Show a0001c0002t0001g0359 a0001c0002t0004g0101 a0001c0002t0006g0159 a0001c0002t0006g0160 a0001c0002t0006g0281 a0001c0002t0006g0314 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0113 a0001c0003t0009g0235 a0001c0003t0009g0236 a0001c0003t0009g0237 a0001c0003t0027g0054 a0001c0003t0032g0321 a0001c0003t0033g0172 a0001c0004t0004g0358 a0001c0005t0043g0039 a0001c0007t0013g0044 a0001c0008t0005g0243 a0001c0011t0003g0228 a0001c0011t0003g0268 a0001c0012t0016g0135 a0001c0029t0006g0102 a0003c0030t0003g0075	24	370	0.0649	8	c.-48 others(27): Show c.-48+15520_-48+15527dupTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54506123	C C	CTAAATAA others(1): Show CTAAATAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02273.hp1 HG02897.hp2 others(3): Show HG01255.hp2 HG02273.hp1 HG02897.hp2 HG03209.hp1 HG03831.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 a0001c0001 a0001c0003 a0001c0013	a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0001c0003t0032 a0001c0013t0015	a0001c0001t0002g0030 a0001c0001t0002g0207 a0001c0001t0003g0223 others(3): Show a0001c0001t0002g0030 a0001c0001t0002g0207 a0001c0001t0003g0223 a0001c0003t0003g0256 a0001c0003t0032g0321 a0001c0013t0015g0255	6	370	0.0162	8	c.-47 others(27): Show c.-47-20216_-47-20209dupTAAATAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54506894	C C	CTCTTTTT others(1): Show CTCTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02683.hp1 HG03041.hp1 others(7): Show HG01943.hp2 HG02683.hp1 HG03041.hp1 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18963.hp2 NA18971.hp1 NA18986.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 a0001c0003t0003 a0001c0007t0001	a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0120 others(7): Show a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0120 a0001c0002t0001g0083 a0001c0002t0001g0133 a0001c0002t0006g0271 a0001c0002t0006g0299 a0001c0002t0006g0323 a0001c0003t0003g0251 a0001c0007t0001g0222	10	370	0.0270	8	c.-47 others(27): Show c.-47-19477_-47-19476insCTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522652	G G	GAGAGAGA others(1): Show GAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG03139.hp1 HG02145.hp2 HG02615.hp1 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0008 a0001c0007 a0001c0008	a0001c0007t0013 a0001c0008t0005 a0001c0007t0013 a0001c0008t0005	a0001c0007t0013g0043 a0001c0007t0013g0044 a0001c0008t0005g0045 a0001c0007t0013g0043 a0001c0007t0013g0044 a0001c0008t0005g0045	3	370	0.0081	8	c.-47 others(25): Show c.-47-3715_-47-3714insGAAAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522678	G G	GAGAGGAG others(1): Show GAGAGGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03688.hp1 HG03942.hp2 HG02055.hp1 HG03688.hp1 HG03942.hp2	a0001 a0007 a0001 a0007	a0001c0008 a0001c0015 a0007c0024 a0001c0008 a0001c0015 a0007c0024	a0001c0008t0005 a0001c0015t0005 a0007c0024t0051 a0001c0008t0005 a0001c0015t0005 a0007c0024t0051	a0001c0008t0005g0306 a0001c0015t0005g0099 a0007c0024t0051g0078 a0001c0008t0005g0306 a0001c0015t0005g0099 a0007c0024t0051g0078	3	370	0.0081	8	c.-47 others(25): Show c.-47-3694_-47-3693insAGAGGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54530353	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01255.hp2 HG02055.hp1 others(8): Show HG01167.hp2 HG01255.hp2 HG02055.hp1 HG02293.hp2 HG02451.hp2 HG02818.hp1 HG02965.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0013	a0001c0001t0003 a0001c0001t0018 a0001c0002t0001 others(3): Show a0001c0001t0003 a0001c0001t0018 a0001c0002t0001 a0001c0005t0008 a0001c0008t0005 a0001c0013t0015	a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(8): Show a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0223 a0001c0001t0018g0180 a0001c0002t0001g0147 a0001c0005t0008g0176 a0001c0008t0005g0243 a0001c0008t0005g0245 a0001c0008t0005g0306 a0001c0013t0015g0263	11	370	0.0297	8	c.148 others(25): Show c.148+3803_148+3810dupTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54533349	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03130.hp2 NA19064.hp2 HG00099.hp2 HG03130.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0005 a0001c0004t0004 a0001c0005t0034 a0001c0001t0005 a0001c0004t0004 a0001c0005t0034	a0001c0001t0005g0136 a0001c0004t0004g0358 a0001c0005t0034g0003 a0001c0001t0005g0136 a0001c0004t0004g0358 a0001c0005t0034g0003	3	370	0.0081	8	c.148 others(25): Show c.148+6822_148+6829dupGTGTGTGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54562696	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(30): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG01106.hp1 HG01109.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG02258.hp2 HG02300.hp2 HG02559.hp2 HG02622.hp2 HG02698.hp2 HG02976.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp2 NA18950.hp1 NA18951.hp2 NA18986.hp1 NA18992.hp1 NA19005.hp2 NA19012.hp2 NA19064.hp2 NA19084.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0003 a0013 others(1): Show a0001 a0003 a0013 a0016	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0013 a0001c0018 a0001c0019 a0003c0030 a0013c0037 a0016c0025	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(20): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0044 a0001c0003t0003 a0001c0003t0004 a0001c0003t0027 a0001c0003t0036 a0001c0004t0004 a0001c0004t0035 a0001c0005t0003 a0001c0005t0011 a0001c0005t0025 a0001c0011t0003 a0001c0011t0023 a0001c0013t0015 a0001c0018t0007 a0001c0018t0042 a0001c0019t0012 a0003c0030t0003 a0013c0037t0004 a0016c0025t0002	a0001c0001t0002g0167 a0001c0001t0007g0196 a0001c0001t0007g0270 others(30): Show a0001c0001t0002g0167 a0001c0001t0007g0196 a0001c0001t0007g0270 a0001c0001t0007g0296 a0001c0001t0014g0282 a0001c0001t0019g0031 a0001c0001t0044g0297 a0001c0003t0003g0073 a0001c0003t0003g0292 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0003g0360 a0001c0003t0004g0024 a0001c0003t0027g0054 a0001c0003t0036g0361 a0001c0004t0004g0358 a0001c0004t0035g0042 a0001c0005t0003g0005 a0001c0005t0011g0051 a0001c0005t0025g0240 a0001c0011t0003g0171 a0001c0011t0023g0230 a0001c0013t0015g0255 a0001c0018t0007g0112 a0001c0018t0042g0027 a0001c0019t0012g0246 a0001c0019t0012g0252 a0003c0030t0003g0075 a0013c0037t0004g0329 a0016c0025t0002g0021	33	370	0.0892	8	c.148 others(27): Show c.148+36162_148+36169dupGTGTGTGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(67): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01192.hp2 HG01257.hp1 HG01361.hp1 HG01433.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02683.hp1 HG02698.hp1 HG02895.hp2 HG03491.hp2 HG03654.hp2 HG03704.hp1 HG04115.hp1 NA18612.hp1 NA18946.hp2 NA18951.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA19002.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp2 NA20752.hp2	a0001 a0004 a0009 others(1): Show a0001 a0004 a0009 a0010	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0001c0012 a0001c0017 a0001c0023 a0004c0031 a0009c0032 a0010c0034	a0001c0001t0001 a0001c0001t0029 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0029 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0028 a0001c0002t0029 a0001c0002t0046 a0001c0002t0048 a0001c0007t0001 a0001c0012t0016 a0001c0017t0001 a0001c0023t0001 a0004c0031t0047 a0009c0032t0001 a0010c0034t0037	a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0029g0100 others(67): Show a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0029g0100 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0103 a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0133 a0001c0002t0001g0147 a0001c0002t0001g0231 a0001c0002t0001g0273 a0001c0002t0001g0287 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0337 a0001c0002t0001g0359 a0001c0002t0004g0101 a0001c0002t0006g0114 a0001c0002t0006g0116 a0001c0002t0006g0148 a0001c0002t0006g0149 a0001c0002t0006g0154 a0001c0002t0006g0155 a0001c0002t0006g0157 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0006g0160 a0001c0002t0006g0271 a0001c0002t0006g0278 a0001c0002t0006g0284 a0001c0002t0006g0299 a0001c0002t0006g0323 a0001c0002t0006g0327 a0001c0002t0028g0294 a0001c0002t0028g0295 a0001c0002t0029g0339 a0001c0002t0046g0332 a0001c0002t0048g0025 a0001c0007t0001g0081 a0001c0007t0001g0119 a0001c0007t0001g0192 a0001c0007t0001g0222 a0001c0007t0001g0311 a0001c0012t0016g0189 a0001c0017t0001g0013 a0001c0017t0001g0029 a0001c0023t0001g0197 a0004c0031t0047g0279 a0009c0032t0001g0006 a0010c0034t0037g0011	70	370	0.1892	8	c.149 others(27): Show c.149-23027_149-23020dupTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54593823	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp1 HG01257.hp1 others(12): Show HG00140.hp1 HG01123.hp1 HG01257.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp1 HG02135.hp1 HG02257.hp1 HG02273.hp2 HG03654.hp2 NA18962.hp1 NA18964.hp2 NA18970.hp2 NA18983.hp1 NA19082.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0032 a0001c0002 a0009c0032	a0001c0002t0001 a0001c0002t0006 a0001c0002t0048 others(1): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0048 a0009c0032t0001	a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0115 others(12): Show a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0115 a0001c0002t0001g0124 a0001c0002t0001g0273 a0001c0002t0001g0337 a0001c0002t0006g0116 a0001c0002t0006g0149 a0001c0002t0006g0154 a0001c0002t0006g0158 a0001c0002t0006g0160 a0001c0002t0006g0278 a0001c0002t0006g0299 a0001c0002t0048g0025 a0009c0032t0001g0006	15	370	0.0405	8	c.149 others(25): Show c.149-5249_149-5242dupTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594833	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01346.hp2 HG02055.hp1 others(18): Show HG01257.hp2 HG01346.hp2 HG02055.hp1 HG02451.hp1 HG02615.hp1 HG02818.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA18940.hp1 NA18954.hp2 NA18982.hp1 NA19062.hp2 NA19067.hp1 NA19086.hp2 NA20129.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0013 a0001c0033 a0011c0027	a0001c0001t0018 a0001c0003t0009 a0001c0003t0033 others(9): Show a0001c0001t0018 a0001c0003t0009 a0001c0003t0033 a0001c0004t0004 a0001c0005t0008 a0001c0005t0031 a0001c0007t0013 a0001c0008t0005 a0001c0008t0026 a0001c0013t0015 a0001c0033t0007 a0011c0027t0009	a0001c0001t0018g0180 a0001c0003t0009g0233 a0001c0003t0009g0234 others(18): Show a0001c0001t0018g0180 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0236 a0001c0003t0009g0237 a0001c0003t0033g0172 a0001c0004t0004g0264 a0001c0005t0008g0049 a0001c0005t0031g0187 a0001c0007t0013g0043 a0001c0008t0005g0045 a0001c0008t0005g0243 a0001c0008t0005g0245 a0001c0008t0005g0260 a0001c0008t0005g0306 a0001c0008t0026g0365 a0001c0013t0015g0255 a0001c0013t0015g0259 a0001c0013t0015g0263 a0001c0033t0007g0290 a0011c0027t0009g0232	21	370	0.0568	8	c.149 others(25): Show c.149-4248_149-4241dupTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594851	T T	TTTTTTTT others(1): Show TTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02630.hp1 others(8): Show HG01109.hp2 HG02258.hp1 HG02630.hp1 HG02886.hp1 HG03130.hp2 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0019 a0001c0005 a0001c0019	a0001c0005t0003 a0001c0005t0012 a0001c0005t0025 others(3): Show a0001c0005t0003 a0001c0005t0012 a0001c0005t0025 a0001c0005t0034 a0001c0005t0043 a0001c0019t0012	a0001c0005t0003g0004 a0001c0005t0003g0005 a0001c0005t0003g0181 others(8): Show a0001c0005t0003g0004 a0001c0005t0003g0005 a0001c0005t0003g0181 a0001c0005t0003g0190 a0001c0005t0012g0369 a0001c0005t0012g0370 a0001c0005t0025g0240 a0001c0005t0025g0250 a0001c0005t0034g0003 a0001c0005t0043g0039 a0001c0019t0012g0252	11	370	0.0297	8	c.149 others(25): Show c.149-4241_149-4240insTTTTTTTG	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35			chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54633433	G G	GTGTCTGT others(1): Show GTGTCTGTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02055.hp1 HG02055.hp2 others(13): Show HG01346.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02451.hp1 HG02615.hp1 HG02809.hp1 HG02818.hp1 HG02965.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0001c0013	a0001c0001t0018 a0001c0005t0031 a0001c0008t0005 others(2): Show a0001c0001t0018 a0001c0005t0031 a0001c0008t0005 a0001c0008t0026 a0001c0013t0015	a0001c0001t0018g0180 a0001c0001t0018g0303 a0001c0005t0031g0187 others(13): Show a0001c0001t0018g0180 a0001c0001t0018g0303 a0001c0005t0031g0187 a0001c0008t0005g0045 a0001c0008t0005g0046 a0001c0008t0005g0243 a0001c0008t0005g0244 a0001c0008t0005g0245 a0001c0008t0005g0260 a0001c0008t0005g0306 a0001c0008t0026g0364 a0001c0008t0026g0365 a0001c0013t0015g0255 a0001c0013t0015g0258 a0001c0013t0015g0259 a0001c0013t0015g0263	16	370	0.0432	8	c.376 others(25): Show c.3767+676_3767+683dupTCTGTCTG	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	17/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54652877	T T	TTTTCTTT others(1): Show TTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG02886.hp2 others(8): Show HG02615.hp2 HG02717.hp2 HG02886.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0005 a0006c0035 a0001c0005 a0006c0035	a0001c0005t0003 a0001c0005t0008 a0001c0005t0031 others(2): Show a0001c0005t0003 a0001c0005t0008 a0001c0005t0031 a0001c0005t0034 a0006c0035t0030	a0001c0005t0003g0190 a0001c0005t0003g0191 a0001c0005t0008g0048 others(8): Show a0001c0005t0003g0190 a0001c0005t0003g0191 a0001c0005t0008g0048 a0001c0005t0008g0049 a0001c0005t0008g0050 a0001c0005t0008g0062 a0001c0005t0008g0176 a0001c0005t0008g0269 a0001c0005t0031g0187 a0001c0005t0034g0003 a0006c0035t0030g0174	11	370	0.0297	8	c.557 others(25): Show c.5578-712_5578-705dupCTTTCTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	26/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40479675	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01175.hp1 others(8): Show HG00741.hp2 HG01074.hp2 HG01175.hp1 HG01496.hp2 HG02630.hp1 HG03017.hp2 HG04228.hp1 NA18946.hp2 NA19054.hp2 NA19085.hp1 NA20752.hp1	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0020 a0026	a0001c0001 a0001c0002 a0001c0012 others(4): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0011c0033 a0020c0053 a0026c0029	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 a0002c0003t0001 a0011c0033t0001 a0020c0053t0001 a0026c0029t0001	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0161 others(8): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0161 a0001c0001t0001g0199 a0001c0002t0001g0205 a0001c0002t0002g0196 a0001c0012t0001g0226 a0002c0003t0001g0181 a0011c0033t0001g0006 a0020c0053t0001g0220 a0026c0029t0001g0174	11	234	0.0470	8	c.169 others(25): Show c.169+6906_169+6913dupATATATAT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40489228	A A	AAAAGAAA others(1): Show AAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp1 others(26): Show HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02615.hp1 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG03098.hp1 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03704.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18983.hp2 NA19064.hp2 NA19077.hp2 NA19085.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011 a0016 a0026	a0001c0001 a0001c0002 a0001c0010 others(15): Show a0001c0001 a0001c0002 a0001c0010 a0001c0012 a0001c0042 a0002c0003 a0002c0004 a0003c0005 a0004c0007 a0004c0011 a0004c0026 a0004c0028 a0005c0009 a0010c0048 a0010c0051 a0011c0033 a0016c0032 a0026c0029	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(15): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0012t0001 a0001c0042t0001 a0002c0003t0001 a0002c0004t0001 a0003c0005t0001 a0004c0007t0001 a0004c0011t0001 a0004c0026t0001 a0004c0028t0001 a0005c0009t0001 a0010c0048t0001 a0010c0051t0001 a0011c0033t0001 a0016c0032t0001 a0026c0029t0001	a0001c0001t0001g0092 a0001c0001t0001g0180 a0001c0001t0001g0184 others(26): Show a0001c0001t0001g0092 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0204 a0001c0002t0001g0022 a0001c0010t0001g0070 a0001c0010t0001g0093 a0001c0010t0001g0149 a0001c0012t0001g0226 a0001c0042t0001g0024 a0002c0003t0001g0182 a0002c0003t0001g0221 a0002c0004t0001g0222 a0003c0005t0001g0210 a0003c0005t0001g0211 a0004c0007t0001g0173 a0004c0007t0001g0192 a0004c0011t0001g0172 a0004c0026t0001g0056 a0004c0028t0001g0170 a0005c0009t0001g0001 a0005c0009t0001g0007 a0005c0009t0001g0144 a0005c0009t0001g0175 a0010c0048t0001g0209 a0010c0051t0001g0185 a0011c0033t0001g0006 a0016c0032t0001g0057 a0026c0029t0001g0174	29	234	0.1239	8	c.322 others(23): Show c.322-843_322-836dupGAAAGAAA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	3/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40498373	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02630.hp1 HG02895.hp1 others(9): Show HG02040.hp2 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03225.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp1 NA18984.hp2 NA18999.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0020	a0001c0001 a0001c0008 a0001c0010 others(5): Show a0001c0001 a0001c0008 a0001c0010 a0002c0003 a0002c0036 a0003c0019 a0005c0009 a0020c0053	a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 others(6): Show a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 a0001c0010t0008 a0002c0003t0001 a0002c0036t0001 a0003c0019t0001 a0005c0009t0001 a0020c0053t0001	a0001c0001t0001g0114 a0001c0001t0001g0203 a0001c0008t0001g0046 others(9): Show a0001c0001t0001g0114 a0001c0001t0001g0203 a0001c0008t0001g0046 a0001c0008t0001g0060 a0001c0008t0001g0153 a0001c0010t0001g0070 a0001c0010t0008g0075 a0002c0003t0001g0127 a0002c0036t0001g0154 a0003c0019t0001g0030 a0005c0009t0001g0175 a0020c0053t0001g0220	12	234	0.0513	8	c.784 others(23): Show c.784+809_784+816dupATTTATTT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40505700	G G	GAGGAAGG others(1): Show GAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01257.hp2 others(20): Show HG00099.hp2 HG00280.hp2 HG01257.hp2 HG01496.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03453.hp1 HG03942.hp1 HG04199.hp2 NA18906.hp1 NA18946.hp1 NA19054.hp2 NA19077.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0023 a0027	a0001c0001 a0001c0002 a0001c0008 others(12): Show a0001c0001 a0001c0002 a0001c0008 a0001c0050 a0002c0003 a0002c0004 a0003c0006 a0003c0019 a0004c0011 a0004c0016 a0005c0009 a0005c0030 a0007c0013 a0023c0055 a0027c0054	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0008t0001 a0001c0050t0002 a0002c0003t0001 a0002c0004t0001 a0003c0006t0001 a0003c0019t0001 a0004c0011t0001 a0004c0016t0001 a0005c0009t0001 a0005c0030t0001 a0007c0013t0001 a0023c0055t0001 a0027c0054t0001	a0001c0001t0001g0107 a0001c0002t0001g0076 a0001c0002t0001g0228 others(20): Show a0001c0001t0001g0107 a0001c0002t0001g0076 a0001c0002t0001g0228 a0001c0002t0002g0196 a0001c0008t0001g0060 a0001c0008t0001g0062 a0001c0008t0001g0117 a0001c0008t0001g0153 a0001c0008t0001g0160 a0001c0050t0002g0206 a0002c0003t0001g0063 a0002c0003t0001g0181 a0002c0004t0001g0224 a0003c0006t0001g0132 a0003c0006t0001g0215 a0003c0019t0001g0030 a0004c0011t0001g0138 a0004c0016t0001g0177 a0005c0009t0001g0008 a0005c0030t0001g0141 a0007c0013t0001g0145 a0023c0055t0001g0121 a0027c0054t0001g0026	23	234	0.0983	8	c.166 others(25): Show c.1666-489_1666-482dupGAAGGAAG	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40567298	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02630.hp1 HG02723.hp2 HG01934.hp1 HG02630.hp1 HG02723.hp2	a0010 a0020 a0022 a0010 a0020 a0022	a0010c0048 a0020c0053 a0022c0052 a0010c0048 a0020c0053 a0022c0052	a0010c0048t0001 a0020c0053t0001 a0022c0052t0001 a0010c0048t0001 a0020c0053t0001 a0022c0052t0001	a0010c0048t0001g0209 a0020c0053t0001g0220 a0022c0052t0001g0023 a0010c0048t0001g0209 a0020c0053t0001g0220 a0022c0052t0001g0023	3	234	0.0128	8	c.633 others(25): Show c.6337-325_6337-318dupTAAATAAA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	30/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40569936	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01070.hp1 others(17): Show HG00099.hp1 HG00738.hp2 HG01070.hp1 HG01106.hp2 HG02280.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03486.hp1 HG04199.hp1 NA18946.hp1 NA18970.hp2 NA18983.hp1 NA18984.hp1 NA19085.hp2 NA19088.hp1	a0002 a0003 a0004 others(7): Show a0002 a0003 a0004 a0005 a0009 a0012 a0013 a0020 a0021 a0027	a0002c0004 a0002c0015 a0002c0046 others(11): Show a0002c0004 a0002c0015 a0002c0046 a0003c0005 a0003c0006 a0004c0007 a0004c0014 a0005c0009 a0009c0025 a0012c0059 a0013c0037 a0020c0053 a0021c0038 a0027c0054	a0002c0004t0001 a0002c0015t0001 a0002c0046t0001 others(12): Show a0002c0004t0001 a0002c0015t0001 a0002c0046t0001 a0003c0005t0001 a0003c0006t0001 a0003c0006t0004 a0004c0007t0001 a0004c0014t0001 a0005c0009t0001 a0009c0025t0001 a0012c0059t0001 a0013c0037t0001 a0020c0053t0001 a0021c0038t0001 a0027c0054t0001	a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0224 others(17): Show a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0224 a0002c0015t0001g0089 a0002c0015t0001g0135 a0002c0015t0001g0179 a0002c0046t0001g0088 a0003c0005t0001g0011 a0003c0006t0001g0084 a0003c0006t0001g0212 a0003c0006t0004g0080 a0004c0007t0001g0186 a0004c0014t0001g0146 a0005c0009t0001g0189 a0009c0025t0001g0176 a0012c0059t0001g0020 a0013c0037t0001g0106 a0020c0053t0001g0220 a0021c0038t0001g0111 a0027c0054t0001g0026	20	234	0.0855	8	c.702 others(25): Show c.7026+241_7026+248dupCACACACA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64882470	C C	CAAAAAAA others(1): Show CAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01884.hp1 HG02698.hp2 others(9): Show HG01074.hp1 HG01884.hp1 HG02698.hp2 HG02896.hp2 HG02976.hp2 HG03490.hp2 HG03491.hp2 NA19056.hp2 NA19077.hp1 NA19080.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0013 a0013c0049	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0002c0003t0008 a0002c0005t0009 a0002c0013t0001 a0002c0013t0005 a0013c0049t0003	a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0135 others(9): Show a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0135 a0001c0002t0001g0114 a0001c0002t0003g0137 a0001c0002t0003g0138 a0002c0003t0008g0118 a0002c0005t0009g0108 a0002c0013t0001g0059 a0002c0013t0005g0140 a0002c0013t0005g0142 a0013c0049t0003g0134	12	268	0.0448	8	c.-27 others(19): Show c.-2731_-2730insTTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding		2564		chr14	TogoVar
SPTLC1_chr9_92026147_92120413	92050811	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp1 others(50): Show HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG01070.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01358.hp2 HG01884.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02056.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02622.hp1 HG02976.hp1 HG03017.hp1 HG03927.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18977.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18998.hp2 NA19006.hp2 NA19007.hp1 NA19064.hp2 NA19065.hp2 NA19072.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0002c0003t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0003g0266 a0001c0001t0014g0261 a0002c0003t0003g0062	53	358	0.1480	8	c.781 others(23): Show c.781-752_781-745dupAAAAAAAA	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	8/14			chr9	TogoVar
SPTLC2_chr14_77500997_77621637	77534216	A A	ACACACAC others(1): Show ACACACACG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02602.hp1 HG04228.hp2 HG02109.hp1 HG02602.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0071 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0002g0071 a0001c0001t0005g0181 a0001c0001t0005g0182	3	246	0.0122	8	c.130 others(29): Show c.1304-12636_1304-12635insCGTGTGTG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77551342	G G	GATCACAC others(1): Show GATCACACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02738.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp1 HG03654.hp2 HG04115.hp2 HG04204.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0044 a0001c0001t0050 a0001c0002t0001 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0019 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0229 a0001c0001t0002g0072 a0001c0001t0003g0144 a0001c0001t0005g0183 a0001c0001t0006g0155 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0009g0175 a0001c0001t0014g0100 a0001c0001t0015g0131 a0001c0001t0015g0150 a0001c0001t0027g0136 a0001c0001t0031g0043 a0001c0001t0032g0205 a0001c0001t0034g0091 a0001c0001t0035g0123 a0001c0001t0036g0084 a0001c0001t0044g0047 a0001c0001t0050g0237 a0001c0002t0001g0104 a0002c0007t0001g0081 a0002c0007t0001g0156	89	246	0.3618	8	c.130 others(25): Show c.1303+746_1303+753dupGGTGTGAT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77583199	C C	CAATAAAT others(1): Show CAATAAATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(53): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG02071.hp1 HG02083.hp2 HG02145.hp1 HG02165.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03540.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18968.hp1 NA18981.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0026 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0028 a0001c0003t0001 a0001c0004t0004 a0001c0005t0037 a0001c0013t0041	a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0040 others(53): Show a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0002g0072 a0001c0001t0003g0185 a0001c0001t0005g0074 a0001c0001t0006g0155 a0001c0001t0008g0119 a0001c0001t0009g0085 a0001c0001t0014g0100 a0001c0001t0015g0131 a0001c0001t0016g0069 a0001c0001t0026g0160 a0001c0001t0032g0205 a0001c0001t0035g0123 a0001c0001t0036g0084 a0001c0001t0044g0047 a0001c0002t0001g0104 a0001c0002t0002g0224 a0001c0002t0006g0109 a0001c0002t0006g0110 a0001c0002t0006g0124 a0001c0002t0028g0174 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0021 a0001c0004t0004g0011 a0001c0004t0004g0143 a0001c0005t0037g0055 a0001c0013t0041g0079	56	246	0.2276	8	c.328 others(25): Show c.328-4098_328-4091dupTATTTATT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar

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