Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SETD7_chr4_139501038_139561219	139543824	CGTGGTG CGTGGTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02630.hp2 others(3): Show HG02055.hp1 HG02615.hp2 HG02630.hp2 HG02886.hp2 HG03041.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0004 a0001c0001t0020	a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 others(3): Show a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0281 a0001c0001t0004g0285 a0001c0001t0020g0020	6	316	0.0190	-6	c.170 others(23): Show c.170+3090_170+3095delCACCAC	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	2/7			chr4	TogoVar
SETD7_chr4_139501038_139561219	139544797	AGTGTGT AGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01169.hp2 HG01175.hp1 others(43): Show HG00099.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG06807.hp2 NA18948.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0035 a0001c0001t0038 a0001c0001t0049 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0043 others(39): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0001g0126 a0001c0001t0001g0179 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0278 a0001c0001t0003g0070 a0001c0001t0004g0185 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0281 a0001c0001t0004g0285 a0001c0001t0006g0005 a0001c0001t0007g0177 a0001c0001t0007g0178 a0001c0001t0007g0279 a0001c0001t0011g0188 a0001c0001t0013g0006 a0001c0001t0013g0057 a0001c0001t0014g0180 a0001c0001t0015g0212 a0001c0001t0015g0242 a0001c0001t0020g0020 a0001c0001t0027g0049 a0001c0001t0028g0215 a0001c0001t0031g0227 a0001c0001t0035g0022 a0001c0001t0038g0222 a0001c0001t0049g0236 a0001c0001t0053g0284 a0001c0001t0055g0232 a0001c0001t0056g0031	46	316	0.1456	-6	c.170 others(23): Show c.170+2117_170+2122delACACAC	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	2/7			chr4	TogoVar
SETD7_chr4_139501038_139561219	139555182	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00741.hp2 others(14): Show HG00099.hp1 HG00099.hp2 HG00741.hp2 HG01169.hp2 HG01175.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02818.hp2 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03688.hp1 HG04184.hp2 HG04204.hp2 NA19009.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0019 a0001c0001t0027 a0001c0001t0044 a0001c0001t0052 a0002c0003t0001	a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0045 others(13): Show a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0006g0005 a0001c0001t0019g0050 a0001c0001t0027g0049 a0001c0001t0044g0048 a0001c0001t0052g0042 a0002c0003t0001g0047	17	316	0.0538	-6	c.40+ others(19): Show c.40+910_40+915delTTTTTT	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	1/7			chr4	TogoVar
SETDB2_chr13_49439274_49500003	49440715	AGTGTGT AGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01496.hp2 HG01993.hp2 others(18): Show HG01255.hp1 HG01496.hp2 HG01993.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02698.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03486.hp2 HG06807.hp1 NA18939.hp2 NA18950.hp2 NA18962.hp1 NA18972.hp2 NA18974.hp2 NA18988.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0009 a0001c0001t0044 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0044 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0004c0005t0006	a0001c0001t0001g0056 a0001c0001t0001g0146 a0001c0001t0001g0162 others(16): Show a0001c0001t0001g0056 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0009g0003 a0001c0001t0009g0076 a0001c0001t0009g0078 a0001c0001t0009g0080 a0001c0001t0009g0081 a0001c0001t0044g0188 a0001c0002t0004g0220 a0001c0002t0004g0365 a0001c0002t0007g0243 a0001c0002t0007g0274 a0001c0002t0008g0367 a0004c0005t0006g0071 a0004c0005t0006g0074	21	406	0.0517	-6	c.-44 others(17): Show c.-4483_-4478delGTGTGT	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3558		chr13	TogoVar
SETDB2_chr13_49439274_49500003	49441221	GTATATA GTATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02257.hp1 others(5): Show HG01109.hp1 HG01884.hp2 HG02257.hp1 HG02647.hp1 HG02895.hp2 HG02976.hp1 NA19030.hp1 NA20129.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0009 a0001c0001 a0003c0004 a0007c0009	a0001c0001t0016 a0001c0001t0044 a0001c0001t0045 others(3): Show a0001c0001t0016 a0001c0001t0044 a0001c0001t0045 a0003c0004t0018 a0003c0004t0021 a0007c0009t0021	a0001c0001t0016g0189 a0001c0001t0044g0188 a0001c0001t0045g0190 others(5): Show a0001c0001t0016g0189 a0001c0001t0044g0188 a0001c0001t0045g0190 a0003c0004t0018g0195 a0003c0004t0018g0196 a0003c0004t0018g0197 a0003c0004t0021g0193 a0007c0009t0021g0194	8	406	0.0197	-6	c.-39 others(17): Show c.-3977_-3972delTATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3052		chr13	TogoVar
SETDB2_chr13_49439274_49500003	49451478	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01074.hp2 others(22): Show HG00639.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01884.hp2 HG01993.hp2 HG02257.hp1 HG02572.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0016 a0001c0001t0044 others(7): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0044 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0002t0017 a0001c0002t0020 a0001c0002t0028	a0001c0001t0005g0336 a0001c0001t0005g0337 a0001c0001t0016g0189 others(19): Show a0001c0001t0005g0336 a0001c0001t0005g0337 a0001c0001t0016g0189 a0001c0001t0044g0188 a0001c0002t0004g0015 a0001c0002t0004g0265 a0001c0002t0004g0266 a0001c0002t0007g0269 a0001c0002t0007g0271 a0001c0002t0007g0273 a0001c0002t0007g0274 a0001c0002t0011g0268 a0001c0002t0011g0270 a0001c0002t0011g0272 a0001c0002t0012g0016 a0001c0002t0012g0280 a0001c0002t0012g0281 a0001c0002t0017g0011 a0001c0002t0020g0227 a0001c0002t0020g0267 a0001c0002t0020g0275 a0001c0002t0028g0228	25	406	0.0616	-6	c.-34 others(21): Show c.-341-52_-341-47delATATAT	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETDB2_chr13_49439274_49500003	49483609	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02622.hp1 others(5): Show HG02145.hp2 HG02572.hp1 HG02622.hp1 HG02886.hp2 HG02976.hp1 HG03688.hp2 NA18953.hp1 NA19001.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0003c0004 a0007c0009 a0001c0002 a0003c0004 a0007c0009	a0001c0002t0004 a0001c0002t0027 a0003c0004t0005 others(1): Show a0001c0002t0004 a0001c0002t0027 a0003c0004t0005 a0007c0009t0021	a0001c0002t0004g0360 a0001c0002t0027g0333 a0003c0004t0005g0204 others(5): Show a0001c0002t0004g0360 a0001c0002t0027g0333 a0003c0004t0005g0204 a0003c0004t0005g0210 a0003c0004t0005g0219 a0003c0004t0005g0223 a0003c0004t0005g0378 a0007c0009t0021g0194	8	406	0.0197	-6	c.148 others(21): Show c.1482+78_1482+83delTTTTTT	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETMAR_chr3_4298369_4322265	4314567	TTTTTCA TTTTTCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18950.hp1 NA18952.hp1 NA18957.hp1 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp1 NA18994.hp1 NA18997.hp1 NA19000.hp1 NA19001.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19059.hp1 NA19062.hp2 NA19072.hp2 NA19078.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0013 a0016 a0017	a0001c0003 a0001c0005 a0001c0020 others(11): Show a0001c0003 a0001c0005 a0001c0020 a0002c0002 a0002c0013 a0002c0015 a0003c0004 a0004c0006 a0005c0007 a0006c0008 a0009c0010 a0013c0019 a0016c0024 a0017c0025	a0001c0003t0001 a0001c0005t0001 a0001c0020t0001 others(11): Show a0001c0003t0001 a0001c0005t0001 a0001c0020t0001 a0002c0002t0001 a0002c0013t0001 a0002c0015t0001 a0003c0004t0001 a0004c0006t0001 a0005c0007t0001 a0006c0008t0001 a0009c0010t0001 a0013c0019t0001 a0016c0024t0001 a0017c0025t0001	a0001c0003t0001g0008 a0001c0003t0001g0019 a0001c0003t0001g0022 others(64): Show a0001c0003t0001g0008 a0001c0003t0001g0019 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0030 a0001c0003t0001g0033 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0043 a0001c0003t0001g0047 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0055 a0001c0003t0001g0061 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0129 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0005t0001g0038 a0001c0005t0001g0062 a0001c0005t0001g0063 a0001c0020t0001g0022 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0013 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0064 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0131 a0002c0002t0001g0135 a0002c0013t0001g0004 a0002c0015t0001g0086 a0003c0004t0001g0014 a0003c0004t0001g0032 a0003c0004t0001g0050 a0003c0004t0001g0059 a0004c0006t0001g0048 a0004c0006t0001g0058 a0004c0006t0001g0126 a0005c0007t0001g0005 a0006c0008t0001g0035 a0006c0008t0001g0054 a0009c0010t0001g0034 a0013c0019t0001g0099 a0016c0024t0001g0004 a0017c0025t0001g0051	134	448	0.2991	-6	c.102 others(23): Show c.1020+815_1020+820delTTCATT	SETMAR	ENSG00000170364.13	transcript	ENST00000358065.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETX_chr9_132256356_132359986	132260017	ATTTTTT ATTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG02615.hp1 others(6): Show HG01081.hp1 HG01167.hp2 HG02615.hp1 HG02683.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 NA19065.hp2 NA19066.hp1	a0003 a0006 a0016 a0003 a0006 a0016	a0003c0003 a0006c0012 a0006c0013 others(2): Show a0003c0003 a0006c0012 a0006c0013 a0006c0048 a0016c0019	a0003c0003t0002 a0006c0012t0008 a0006c0013t0009 others(2): Show a0003c0003t0002 a0006c0012t0008 a0006c0013t0009 a0006c0048t0032 a0016c0019t0008	a0003c0003t0002g0065 a0003c0003t0002g0204 a0006c0012t0008g0234 others(6): Show a0003c0003t0002g0065 a0003c0003t0002g0204 a0006c0012t0008g0234 a0006c0012t0008g0343 a0006c0012t0008g0344 a0006c0013t0009g0061 a0006c0048t0032g0151 a0016c0019t0008g0340 a0016c0019t0008g0342	9	362	0.0249	-6	c.42 others(17): Show c.4216_*4221delAAAAAA	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding		1338		chr9	TogoVar
SETX_chr9_132256356_132359986	132292620	AACTCAT AACTCAT	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18962.hp2 NA18963.hp2 others(3): Show NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18982.hp2 NA19010.hp2	a0008 a0008	a0008c0008 a0008c0045 a0008c0008 a0008c0045	a0008c0008t0001 a0008c0008t0029 a0008c0045t0001 a0008c0008t0001 a0008c0008t0029 a0008c0045t0001	a0008c0008t0001g0191 a0008c0008t0001g0193 a0008c0008t0001g0196 others(3): Show a0008c0008t0001g0191 a0008c0008t0001g0193 a0008c0008t0001g0196 a0008c0008t0001g0235 a0008c0008t0029g0192 a0008c0045t0001g0194	6	362	0.0166	-6	c.610 others(25): Show c.6106+3246_6106+3251delATGAGT	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	15/25			chr9	TogoVar
SETX_chr9_132256356_132359986	132335305	GGCGTGA GGCGTGA	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18962.hp2 NA18963.hp2 others(5): Show NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18982.hp2 NA18998.hp2 NA19010.hp2 NA19057.hp1	a0008 a0008	a0008c0008 a0008c0045 a0008c0008 a0008c0045	a0008c0008t0001 a0008c0008t0029 a0008c0045t0001 a0008c0008t0001 a0008c0008t0029 a0008c0045t0001	a0008c0008t0001g0082 a0008c0008t0001g0191 a0008c0008t0001g0193 others(5): Show a0008c0008t0001g0082 a0008c0008t0001g0191 a0008c0008t0001g0193 a0008c0008t0001g0195 a0008c0008t0001g0196 a0008c0008t0001g0235 a0008c0008t0029g0192 a0008c0045t0001g0194	8	362	0.0221	-6	c.719 others(21): Show c.719-584_719-579delTCACGC	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	6/25			chr9	TogoVar
SEZ6L_chr22_26164462_26388596	26208846	CTCTCTG CTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp1 HG03041.hp1 others(5): Show HG02647.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03486.hp2 NA18950.hp1 NA18982.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0018 a0003c0004 a0008c0020	a0001c0001t0002 a0001c0003t0022 a0002c0002t0001 others(4): Show a0001c0001t0002 a0001c0003t0022 a0002c0002t0001 a0002c0018t0014 a0003c0004t0026 a0003c0004t0031 a0008c0020t0003	a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0003t0022g0209 others(5): Show a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0003t0022g0209 a0002c0002t0001g0021 a0002c0018t0014g0105 a0003c0004t0026g0208 a0003c0004t0031g0022 a0008c0020t0003g0214	8	240	0.0333	-6	c.94+ others(23): Show c.94+39085_94+39090delCTCTGT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26208850	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00642.hp1 others(32): Show HG00323.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01099.hp2 HG01243.hp1 HG01346.hp1 HG01358.hp2 HG02040.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03130.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18960.hp2 NA19081.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0003 a0001c0006 others(12): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0021 a0001c0025 a0001c0026 a0002c0002 a0002c0005 a0002c0022 a0002c0033 a0002c0037 a0003c0004 a0005c0011 a0007c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0004 a0001c0006t0004 a0001c0007t0001 a0001c0021t0002 a0001c0025t0006 a0001c0026t0021 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0020 a0002c0005t0001 a0002c0005t0004 a0002c0022t0001 a0002c0033t0003 a0002c0037t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0006 a0003c0004t0007 a0003c0004t0030 a0005c0011t0006 a0007c0016t0002	a0001c0001t0002g0078 a0001c0001t0002g0086 a0001c0001t0002g0128 others(32): Show a0001c0001t0002g0078 a0001c0001t0002g0086 a0001c0001t0002g0128 a0001c0001t0003g0035 a0001c0001t0003g0049 a0001c0001t0003g0130 a0001c0001t0005g0060 a0001c0001t0006g0036 a0001c0003t0001g0180 a0001c0003t0001g0183 a0001c0003t0004g0182 a0001c0006t0004g0188 a0001c0007t0001g0108 a0001c0021t0002g0122 a0001c0025t0006g0119 a0001c0026t0021g0115 a0002c0002t0001g0107 a0002c0002t0002g0073 a0002c0002t0002g0189 a0002c0002t0004g0087 a0002c0002t0020g0123 a0002c0005t0001g0191 a0002c0005t0004g0181 a0002c0005t0004g0184 a0002c0022t0001g0194 a0002c0033t0003g0117 a0002c0037t0001g0196 a0003c0004t0001g0101 a0003c0004t0002g0118 a0003c0004t0002g0190 a0003c0004t0006g0179 a0003c0004t0007g0050 a0003c0004t0030g0195 a0005c0011t0006g0106 a0007c0016t0002g0121	35	240	0.1458	-6	c.94+ others(23): Show c.94+39137_94+39142delGTGTGT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26216669	GAAAAGA GAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(68): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp1 HG01993.hp1 HG02129.hp2 HG02132.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG04199.hp1 NA18906.hp2 NA18942.hp2 NA18946.hp2 NA18950.hp1 NA18962.hp1 NA18977.hp2 NA19000.hp2 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19064.hp1 NA19076.hp2 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0012	a0001c0001 a0001c0003 a0001c0006 others(19): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0025 a0001c0026 a0001c0027 a0001c0029 a0001c0035 a0001c0036 a0002c0002 a0002c0005 a0002c0012 a0002c0033 a0003c0004 a0004c0013 a0004c0014 a0004c0015 a0008c0020 a0012c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0024 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0006t0004 a0001c0007t0003 a0001c0007t0006 a0001c0009t0001 a0001c0009t0003 a0001c0009t0006 a0001c0009t0015 a0001c0010t0001 a0001c0010t0002 a0001c0025t0006 a0001c0026t0021 a0001c0027t0005 a0001c0029t0023 a0001c0035t0003 a0001c0036t0015 a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0002c0002t0010 a0002c0002t0017 a0002c0005t0001 a0002c0005t0007 a0002c0012t0001 a0002c0012t0004 a0002c0033t0003 a0003c0004t0002 a0003c0004t0004 a0004c0013t0002 a0004c0013t0013 a0004c0014t0001 a0004c0014t0028 a0004c0015t0001 a0008c0020t0003 a0012c0024t0006	a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0116 others(68): Show a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0116 a0001c0001t0001g0227 a0001c0001t0002g0034 a0001c0001t0002g0056 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0003g0037 a0001c0001t0003g0084 a0001c0001t0003g0213 a0001c0001t0003g0222 a0001c0001t0003g0237 a0001c0001t0005g0053 a0001c0001t0005g0146 a0001c0001t0005g0225 a0001c0001t0006g0039 a0001c0001t0006g0061 a0001c0001t0006g0229 a0001c0001t0024g0064 a0001c0003t0001g0030 a0001c0003t0001g0230 a0001c0003t0002g0040 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0065 a0001c0006t0001g0001 a0001c0006t0004g0236 a0001c0007t0003g0232 a0001c0007t0006g0162 a0001c0009t0001g0014 a0001c0009t0003g0113 a0001c0009t0006g0114 a0001c0009t0015g0112 a0001c0010t0001g0047 a0001c0010t0002g0239 a0001c0010t0002g0240 a0001c0025t0006g0119 a0001c0026t0021g0115 a0001c0027t0005g0223 a0001c0029t0023g0207 a0001c0035t0003g0048 a0001c0036t0015g0226 a0002c0002t0003g0041 a0002c0002t0006g0033 a0002c0002t0006g0062 a0002c0002t0009g0099 a0002c0002t0010g0233 a0002c0002t0010g0234 a0002c0002t0017g0097 a0002c0005t0001g0235 a0002c0005t0007g0147 a0002c0012t0001g0148 a0002c0012t0001g0151 a0002c0012t0004g0149 a0002c0012t0004g0150 a0002c0033t0003g0117 a0003c0004t0002g0016 a0003c0004t0002g0118 a0003c0004t0004g0111 a0004c0013t0002g0010 a0004c0013t0013g0007 a0004c0014t0001g0005 a0004c0014t0028g0006 a0004c0015t0001g0008 a0004c0015t0001g0009 a0008c0020t0003g0214 a0012c0024t0006g0063	71	240	0.2958	-6	c.94+ others(23): Show c.94+46927_94+46932delAAGAAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26221740	GCACACA GCACACA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp2 HG03486.hp1 others(7): Show HG02886.hp1 HG03130.hp2 HG03486.hp1 HG04204.hp2 NA18906.hp1 NA18950.hp2 NA18973.hp1 NA18982.hp2 NA19003.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0021 others(3): Show a0001c0001 a0001c0008 a0001c0021 a0002c0002 a0002c0005 a0002c0018	a0001c0001t0002 a0001c0008t0002 a0001c0021t0002 others(6): Show a0001c0001t0002 a0001c0008t0002 a0001c0021t0002 a0002c0002t0004 a0002c0002t0020 a0002c0005t0005 a0002c0005t0006 a0002c0005t0013 a0002c0018t0014	a0001c0001t0002g0202 a0001c0008t0002g0004 a0001c0021t0002g0122 others(7): Show a0001c0001t0002g0202 a0001c0008t0002g0004 a0001c0021t0002g0122 a0002c0002t0004g0228 a0002c0002t0020g0123 a0002c0005t0005g0205 a0002c0005t0005g0206 a0002c0005t0006g0203 a0002c0005t0013g0204 a0002c0018t0014g0125	10	240	0.0417	-6	c.94+ others(23): Show c.94+52005_94+52010delACACAC	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26232346	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG01074.hp1 others(36): Show HG00621.hp2 HG00639.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01993.hp2 HG02040.hp1 HG02129.hp1 HG02132.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp2 HG02818.hp2 HG02922.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG06807.hp1 NA18906.hp1 NA18982.hp1 NA18983.hp1 NA19003.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0026 a0001c0029 a0002c0002 a0003c0004 a0010c0028	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0027 a0001c0006t0004 a0001c0007t0001 a0001c0026t0021 a0001c0029t0023 a0002c0002t0001 a0002c0002t0004 a0002c0002t0020 a0003c0004t0004 a0003c0004t0006 a0010c0028t0016	a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0057 others(36): Show a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0057 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0005g0053 a0001c0001t0005g0066 a0001c0001t0005g0126 a0001c0001t0005g0133 a0001c0001t0005g0135 a0001c0001t0005g0146 a0001c0001t0005g0199 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0008g0141 a0001c0003t0001g0103 a0001c0003t0002g0040 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0027g0157 a0001c0006t0004g0198 a0001c0007t0001g0153 a0001c0026t0021g0115 a0001c0029t0023g0207 a0002c0002t0001g0003 a0002c0002t0004g0187 a0002c0002t0004g0228 a0002c0002t0020g0123 a0003c0004t0004g0111 a0003c0004t0006g0179 a0010c0028t0016g0140	39	240	0.1625	-6	c.95- others(23): Show c.95-60016_95-60011delACACAC	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26240086	ACACACT ACACACT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02559.hp2 HG02723.hp1 others(4): Show HG02132.hp1 HG02559.hp2 HG02723.hp1 HG03471.hp1 HG03540.hp1 NA18906.hp2 NA18950.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0002c0012 a0003c0004 a0008c0020	a0001c0001t0003 a0001c0008t0004 a0002c0002t0004 others(4): Show a0001c0001t0003 a0001c0008t0004 a0002c0002t0004 a0002c0002t0009 a0002c0012t0001 a0003c0004t0007 a0008c0020t0003	a0001c0001t0003g0213 a0001c0008t0004g0002 a0002c0002t0004g0158 others(4): Show a0001c0001t0003g0213 a0001c0008t0004g0002 a0002c0002t0004g0158 a0002c0002t0009g0099 a0002c0012t0001g0148 a0003c0004t0007g0192 a0008c0020t0003g0214	7	240	0.0292	-6	c.95- others(23): Show c.95-52314_95-52309delTCACAC	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26270463	GGTGTGT GGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG01074.hp1 others(32): Show HG00642.hp1 HG00673.hp1 HG01074.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01928.hp2 HG01943.hp1 HG01993.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp2 HG02602.hp1 HG03239.hp1 HG03654.hp1 HG04199.hp2 HG06807.hp2 NA18942.hp1 NA18962.hp1 NA18962.hp2 NA18977.hp1 NA18982.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19076.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0010	a0001c0001 a0001c0003 a0001c0008 others(6): Show a0001c0001 a0001c0003 a0001c0008 a0001c0010 a0001c0027 a0002c0002 a0002c0005 a0007c0016 a0010c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0025 a0001c0003t0027 a0001c0008t0005 a0001c0010t0002 a0001c0027t0005 a0002c0002t0004 a0002c0002t0009 a0002c0005t0003 a0007c0016t0002 a0010c0028t0016	a0001c0001t0001g0129 a0001c0001t0002g0128 a0001c0001t0002g0143 others(32): Show a0001c0001t0001g0129 a0001c0001t0002g0128 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0219 a0001c0001t0002g0224 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0144 a0001c0001t0003g0215 a0001c0001t0005g0053 a0001c0001t0005g0066 a0001c0001t0005g0126 a0001c0001t0005g0133 a0001c0001t0005g0146 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0217 a0001c0001t0006g0051 a0001c0001t0008g0141 a0001c0001t0025g0238 a0001c0003t0027g0157 a0001c0008t0005g0083 a0001c0010t0002g0031 a0001c0027t0005g0223 a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0009g0193 a0002c0005t0003g0058 a0002c0005t0003g0138 a0007c0016t0002g0154 a0010c0028t0016g0140	35	240	0.1458	-6	c.95- others(23): Show c.95-21914_95-21909delGTGTGT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26294721	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01256.hp2 HG01257.hp1 others(20): Show HG00733.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02280.hp2 HG02602.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03540.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0006 a0001c0008 others(5): Show a0001c0003 a0001c0006 a0001c0008 a0001c0010 a0001c0021 a0001c0030 a0002c0002 a0005c0011	a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 others(13): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0006t0007 a0001c0008t0001 a0001c0008t0004 a0001c0010t0001 a0001c0010t0002 a0001c0021t0002 a0001c0030t0001 a0002c0002t0004 a0002c0002t0010 a0005c0011t0001	a0001c0003t0001g0152 a0001c0003t0002g0040 a0001c0003t0002g0044 others(20): Show a0001c0003t0001g0152 a0001c0003t0002g0040 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0007g0186 a0001c0006t0001g0001 a0001c0006t0002g0094 a0001c0006t0004g0188 a0001c0006t0004g0236 a0001c0006t0007g0015 a0001c0008t0001g0011 a0001c0008t0001g0160 a0001c0008t0004g0002 a0001c0010t0001g0047 a0001c0010t0002g0031 a0001c0010t0002g0239 a0001c0010t0002g0240 a0001c0021t0002g0122 a0001c0030t0001g0124 a0002c0002t0004g0187 a0002c0002t0010g0233 a0002c0002t0010g0234 a0005c0011t0001g0159	23	240	0.0958	-6	c.969 others(21): Show c.969+327_969+332delACACAC	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26313598	ACACACG ACACACG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00621.hp2 others(47): Show HG00140.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01071.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp2 HG01346.hp2 HG01433.hp1 HG01928.hp1 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02300.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18960.hp1 NA18962.hp2 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA19000.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19062.hp1 NA19081.hp1 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0007 a0011	a0001c0001 a0001c0008 a0001c0009 others(6): Show a0001c0001 a0001c0008 a0001c0009 a0001c0025 a0001c0026 a0004c0013 a0006c0019 a0007c0016 a0011c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 a0001c0001t0025 a0001c0008t0001 a0001c0008t0005 a0001c0009t0001 a0001c0009t0003 a0001c0009t0015 a0001c0025t0006 a0001c0026t0021 a0004c0013t0002 a0006c0019t0003 a0007c0016t0002 a0011c0031t0001	a0001c0001t0001g0013 a0001c0001t0001g0116 a0001c0001t0001g0129 others(47): Show a0001c0001t0001g0013 a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0001t0001g0212 a0001c0001t0002g0019 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0170 a0001c0001t0002g0177 a0001c0001t0002g0202 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0003g0032 a0001c0001t0003g0070 a0001c0001t0003g0127 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0137 a0001c0001t0003g0166 a0001c0001t0003g0222 a0001c0001t0005g0029 a0001c0001t0005g0053 a0001c0001t0005g0060 a0001c0001t0005g0135 a0001c0001t0005g0201 a0001c0001t0006g0036 a0001c0001t0006g0051 a0001c0001t0006g0061 a0001c0001t0006g0220 a0001c0001t0008g0141 a0001c0001t0011g0080 a0001c0001t0019g0176 a0001c0001t0025g0238 a0001c0008t0001g0011 a0001c0008t0005g0083 a0001c0009t0001g0014 a0001c0009t0003g0113 a0001c0009t0015g0112 a0001c0025t0006g0119 a0001c0026t0021g0115 a0004c0013t0002g0010 a0006c0019t0003g0081 a0006c0019t0003g0082 a0007c0016t0002g0121 a0007c0016t0002g0154 a0011c0031t0001g0163	50	240	0.2083	-6	c.187 others(23): Show c.1877-160_1877-155delGCACAC	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26324064	CCACACA CCACACA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp2 NA18906.hp2 others(1): Show HG03209.hp1 HG03225.hp2 NA18906.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0012 a0001c0003 a0002c0002 a0002c0012	a0001c0003t0001 a0002c0002t0001 a0002c0012t0001 others(1): Show a0001c0003t0001 a0002c0002t0001 a0002c0012t0001 a0002c0012t0004	a0001c0003t0001g0028 a0002c0002t0001g0003 a0002c0012t0001g0148 others(1): Show a0001c0003t0001g0028 a0002c0002t0001g0003 a0002c0012t0001g0148 a0002c0012t0004g0149	4	240	0.0167	-6	c.201 others(27): Show c.2015+10195_2015+10200delCACACA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26325927	CCACACA CCACACA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA21309.hp1 NA21309.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0028 a0002c0002t0001g0090 a0002c0002t0001g0093 a0001c0003t0001g0028 a0002c0002t0001g0090 a0002c0002t0001g0093	3	240	0.0125	-6	c.201 others(27): Show c.2015+12048_2015+12053delCACACA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348640	GAAAGAA GAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02897.hp1 NA20300.hp1 HG01993.hp1 HG02897.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0036 a0002c0002 a0001c0001 a0001c0036 a0002c0002	a0001c0001t0002 a0001c0036t0015 a0002c0002t0010 a0001c0001t0002 a0001c0036t0015 a0002c0002t0010	a0001c0001t0002g0218 a0001c0036t0015g0226 a0002c0002t0010g0234 a0001c0001t0002g0218 a0001c0036t0015g0226 a0002c0002t0010g0234	3	240	0.0125	-6	c.240 others(23): Show c.2407+735_2407+740delAAGAAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26356642	AAATAAT AAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00738.hp1 others(30): Show HG00099.hp1 HG00323.hp1 HG00738.hp1 HG01243.hp1 HG01358.hp2 HG02055.hp2 HG02132.hp1 HG02145.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 NA18942.hp1 NA18973.hp1 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA19043.hp2 NA19060.hp1 NA19081.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0006 others(8): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0010 a0002c0002 a0002c0005 a0002c0033 a0003c0004 a0004c0014 a0004c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 a0001c0003t0004 a0001c0003t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0012 a0001c0008t0004 a0001c0010t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0005t0001 a0002c0005t0004 a0002c0005t0005 a0002c0005t0007 a0002c0033t0003 a0003c0004t0001 a0003c0004t0002 a0003c0004t0007 a0003c0004t0030 a0004c0014t0028 a0004c0015t0001	a0001c0001t0002g0057 a0001c0001t0002g0078 a0001c0001t0002g0143 others(30): Show a0001c0001t0002g0057 a0001c0001t0002g0078 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0003g0213 a0001c0001t0005g0053 a0001c0001t0005g0060 a0001c0001t0005g0135 a0001c0001t0018g0043 a0001c0003t0004g0210 a0001c0003t0007g0186 a0001c0006t0001g0211 a0001c0006t0002g0089 a0001c0006t0012g0092 a0001c0008t0004g0002 a0001c0010t0002g0031 a0002c0002t0001g0020 a0002c0002t0004g0187 a0002c0002t0008g0095 a0002c0005t0001g0096 a0002c0005t0004g0181 a0002c0005t0004g0184 a0002c0005t0005g0205 a0002c0005t0005g0206 a0002c0005t0007g0147 a0002c0033t0003g0117 a0003c0004t0001g0101 a0003c0004t0002g0016 a0003c0004t0007g0192 a0003c0004t0030g0195 a0004c0014t0028g0006 a0004c0015t0001g0008 a0004c0015t0001g0009	33	240	0.1375	-6	c.259 others(25): Show c.2599+5445_2599+5450delAATAAT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6_chr17_28949905_29011033	28966756	TAAAAAG TAAAAAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp1 HG01081.hp1 others(52): Show HG00408.hp1 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18940.hp2 NA18947.hp1 NA18961.hp2 NA18986.hp2 NA18992.hp1 NA19003.hp1 NA19009.hp2 NA19030.hp2 NA19054.hp2 NA19066.hp1 NA19080.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0007	a0002c0003 a0002c0004 a0004c0005 others(4): Show a0002c0003 a0002c0004 a0004c0005 a0004c0015 a0004c0021 a0006c0007 a0007c0011	a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 others(9): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 a0002c0003t0011 a0002c0004t0010 a0004c0005t0004 a0004c0015t0004 a0004c0021t0004 a0006c0007t0003 a0006c0007t0005 a0007c0011t0003 a0007c0011t0005	a0002c0003t0001g0002 a0002c0003t0001g0008 a0002c0003t0001g0033 others(46): Show a0002c0003t0001g0002 a0002c0003t0001g0008 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0087 a0002c0003t0003g0002 a0002c0003t0003g0006 a0002c0003t0003g0008 a0002c0003t0003g0036 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0003t0003g0040 a0002c0003t0003g0041 a0002c0003t0003g0042 a0002c0003t0003g0046 a0002c0003t0003g0047 a0002c0003t0003g0048 a0002c0003t0003g0050 a0002c0003t0003g0052 a0002c0003t0003g0056 a0002c0003t0003g0058 a0002c0003t0003g0085 a0002c0003t0003g0086 a0002c0003t0003g0090 a0002c0003t0003g0104 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0005g0002 a0002c0003t0005g0006 a0002c0003t0005g0035 a0002c0003t0005g0037 a0002c0003t0005g0053 a0002c0003t0005g0057 a0002c0003t0011g0049 a0002c0004t0010g0224 a0004c0005t0004g0021 a0004c0005t0004g0055 a0004c0005t0004g0101 a0004c0005t0004g0113 a0004c0005t0004g0115 a0004c0005t0004g0116 a0004c0015t0004g0111 a0004c0015t0004g0112 a0004c0021t0004g0114 a0006c0007t0003g0031 a0006c0007t0003g0238 a0006c0007t0005g0031 a0007c0011t0003g0016 a0007c0011t0005g0016	55	300	0.1833	-6	c.105 others(25): Show c.1055-2615_1055-2610delCTTTTT	SEZ6	ENSG00000063015.21	transcript	ENST00000317338.17	protein_coding	4/16			chr17	TogoVar
SEZ6_chr17_28949905_29011033	28979880	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00621.hp1 others(5): Show HG00408.hp1 HG00544.hp1 HG00621.hp1 HG02015.hp1 HG02735.hp2 HG03688.hp1 NA18612.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0001 a0002c0003t0003 a0002c0003t0005 others(2): Show a0001c0001t0001 a0002c0003t0003 a0002c0003t0005 a0003c0002t0001 a0003c0002t0002	a0001c0001t0001g0068 a0002c0003t0003g0039 a0002c0003t0005g0053 others(5): Show a0001c0001t0001g0068 a0002c0003t0003g0039 a0002c0003t0005g0053 a0003c0002t0001g0066 a0003c0002t0001g0126 a0003c0002t0002g0065 a0003c0002t0002g0141 a0003c0002t0002g0151	8	300	0.0267	-6	c.725 others(19): Show c.725-73_725-68delACACAC	SEZ6	ENSG00000063015.21	transcript	ENST00000317338.17	protein_coding	2/16			chr17	TogoVar
SEZ6_chr17_28949905_29011033	29005078	GGTGTGT GGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp1 HG03139.hp2 others(3): Show HG01106.hp2 HG01884.hp1 HG03139.hp2 HG03831.hp1 HG04228.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0004 a0003c0002 others(1): Show a0001c0001 a0002c0004 a0003c0002 a0008c0014	a0001c0001t0001 a0001c0001t0003 a0002c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0004t0001 a0003c0002t0002 a0008c0014t0002	a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0003g0232 others(3): Show a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0003g0232 a0002c0004t0001g0231 a0003c0002t0002g0229 a0008c0014t0002g0228	6	300	0.0200	-6	c.55+ others(19): Show c.55+731_55+736delACACAC	SEZ6	ENSG00000063015.21	transcript	ENST00000317338.17	protein_coding	1/16			chr17	TogoVar
SF1_chr11_64759606_64783542	64779243	GAAAAAA GAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp2 others(92): Show HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03130.hp2 HG03516.hp1 HG03516.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18906.hp2 NA18950.hp2 NA18953.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19072.hp1 NA19077.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0001c0004t0002 a0001c0005t0002	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 others(20): Show a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0005g0022 a0001c0003t0002g0023 a0001c0004t0002g0055 a0001c0005t0002g0056	95	342	0.2778	-6	c.-85 others(15): Show c.-857_-852delTTTTTT	SF1	ENSG00000168066.22	transcript	ENST00000377390.8	protein_coding		702		chr11	TogoVar
SF3A3_chr1_37951975_37995022	37962285	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00733.hp2 others(69): Show HG00099.hp2 HG00597.hp1 HG00733.hp2 HG00738.hp1 HG01074.hp2 HG01109.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01884.hp1 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18906.hp1 NA18941.hp2 NA18952.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA19003.hp1 NA19060.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0020 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0003t0002 a0001c0003t0010	a0001c0001t0001g0063 a0001c0001t0001g0178 a0001c0001t0002g0024 others(67): Show a0001c0001t0001g0063 a0001c0001t0001g0178 a0001c0001t0002g0024 a0001c0001t0002g0046 a0001c0001t0004g0021 a0001c0001t0004g0191 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0358 a0001c0001t0005g0002 a0001c0001t0005g0374 a0001c0001t0005g0376 a0001c0001t0005g0377 a0001c0001t0005g0379 a0001c0001t0005g0380 a0001c0001t0005g0381 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0006g0079 a0001c0001t0006g0080 a0001c0001t0006g0081 a0001c0001t0006g0084 a0001c0001t0006g0086 a0001c0001t0006g0088 a0001c0001t0007g0192 a0001c0001t0007g0195 a0001c0001t0007g0306 a0001c0001t0007g0314 a0001c0001t0007g0322 a0001c0001t0013g0045 a0001c0001t0013g0054 a0001c0001t0016g0372 a0001c0001t0024g0370 a0001c0001t0025g0020 a0001c0001t0026g0078 a0001c0001t0029g0198 a0001c0001t0031g0048 a0001c0002t0002g0151 a0001c0002t0002g0164 a0001c0002t0002g0233 a0001c0002t0002g0237 a0001c0002t0002g0239 a0001c0002t0002g0248 a0001c0002t0002g0250 a0001c0002t0002g0255 a0001c0002t0002g0260 a0001c0002t0002g0269 a0001c0002t0002g0272 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0287 a0001c0002t0002g0289 a0001c0002t0002g0293 a0001c0002t0002g0302 a0001c0002t0004g0274 a0001c0002t0004g0282 a0001c0002t0007g0162 a0001c0002t0020g0158 a0001c0002t0020g0285 a0001c0002t0032g0240 a0001c0002t0033g0262 a0001c0002t0034g0267 a0001c0003t0002g0012 a0001c0003t0010g0013 a0001c0003t0010g0014 a0001c0003t0010g0015	72	400	0.1800	-6	c.137 others(25): Show c.1373-2116_1373-2111delTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37974297	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00558.hp2 others(95): Show HG00099.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp2 HG01975.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18952.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19075.hp2 NA19078.hp2 NA19080.hp1 NA19084.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0015 a0001c0002t0020 a0001c0002t0027 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036	a0001c0002t0001g0254 a0001c0002t0002g0004 a0001c0002t0002g0005 others(89): Show a0001c0002t0001g0254 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0164 a0001c0002t0002g0206 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0293 a0001c0002t0002g0296 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0302 a0001c0002t0002g0323 a0001c0002t0004g0155 a0001c0002t0004g0251 a0001c0002t0004g0253 a0001c0002t0004g0257 a0001c0002t0004g0273 a0001c0002t0004g0274 a0001c0002t0004g0279 a0001c0002t0004g0282 a0001c0002t0004g0294 a0001c0002t0004g0297 a0001c0002t0004g0325 a0001c0002t0007g0162 a0001c0002t0007g0265 a0001c0002t0007g0295 a0001c0002t0015g0232 a0001c0002t0015g0243 a0001c0002t0020g0158 a0001c0002t0020g0285 a0001c0002t0027g0236 a0001c0002t0033g0262 a0001c0002t0034g0267 a0001c0002t0035g0242 a0001c0002t0036g0258	98	400	0.2450	-6	c.100 others(25): Show c.1005+2581_1005+2586delAAAAAA	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	12/16			chr1	TogoVar
SF3B1_chr2_197384784_197440028	197400614	CTTCAAA CTTCAAA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18969.hp2 NA19064.hp2 NA18962.hp2 NA18969.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0112 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0112	3	344	0.0087	-6	c.271 others(22): Show c.2718+95_2718+100delTTTGAA	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	18/24			chr2	TogoVar
SF3B4_chr1_149918317_149932803	149925735	TCTGAAA TCTGAAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02622.hp1 others(8): Show HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02970.hp1 HG03041.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0003 a0001c0001t0001g0015	11	350	0.0314	-6	c.913 others(20): Show c.913+95_913+100delTTTCAG	SF3B4	ENSG00000143368.10	transcript	ENST00000271628.9	protein_coding	4/5			chr1	TogoVar
SF3B5_chr6_144089884_144100573	144090120	CAAAAAA CAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00558.hp2 others(26): Show HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG02080.hp1 HG02523.hp2 NA18943.hp1 NA18945.hp2 NA18954.hp1 NA18966.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19059.hp1 NA19067.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	29	442	0.0656	-6	c.51 others(17): Show c.5111_*5116delTTTTTT	SF3B5	ENSG00000169976.7	transcript	ENST00000367569.4	protein_coding		4763		chr6	TogoVar
SF3B5_chr6_144089884_144100573	144092185	ATAAAAG ATAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02922.hp1 others(1): Show HG01891.hp2 HG02559.hp2 HG02922.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	442	0.0091	-6	c.30 others(17): Show c.3046_*3051delCTTTTA	SF3B5	ENSG00000169976.7	transcript	ENST00000367569.4	protein_coding		2698		chr6	TogoVar
SF3B6_chr2_24062586_24081326	24075349	CTTTCTT CTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19012.hp2 homoSapiens_chm13v2.hp1 HG03927.hp1 NA19012.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038	3	350	0.0086	-6	c.30+ others(19): Show c.30+845_30+850delAAGAAA	SF3B6	ENSG00000115128.7	transcript	ENST00000233468.5	protein_coding	1/3			chr2	TogoVar
SFI1_chr22_31491536_31623588	31511464	GTTTTTT GTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00673.hp1 others(59): Show HG00140.hp1 HG00323.hp2 HG00673.hp1 HG00735.hp1 HG01071.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18957.hp2 NA18962.hp2 NA18972.hp2 NA19000.hp1 NA19009.hp1 NA19011.hp1 NA19043.hp2 NA19066.hp2 NA19079.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp2	a0001 a0003 a0006 others(7): Show a0001 a0003 a0006 a0010 a0012 a0017 a0022 a0023 a0025 a0030	a0001c0001 a0003c0003 a0003c0027 others(9): Show a0001c0001 a0003c0003 a0003c0027 a0003c0033 a0006c0013 a0010c0017 a0012c0012 a0017c0018 a0022c0031 a0023c0032 a0025c0034 a0030c0045	a0001c0001t0001 a0003c0003t0001 a0003c0027t0001 others(9): Show a0001c0001t0001 a0003c0003t0001 a0003c0027t0001 a0003c0033t0001 a0006c0013t0001 a0010c0017t0001 a0012c0012t0001 a0017c0018t0001 a0022c0031t0001 a0023c0032t0001 a0025c0034t0001 a0030c0045t0001	a0001c0001t0001g0181 a0003c0003t0001g0118 a0003c0003t0001g0119 others(59): Show a0001c0001t0001g0181 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0151 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0174 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0204 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0027t0001g0152 a0003c0033t0001g0185 a0006c0013t0001g0157 a0006c0013t0001g0158 a0010c0017t0001g0205 a0012c0012t0001g0162 a0012c0012t0001g0173 a0012c0012t0001g0184 a0017c0018t0001g0196 a0017c0018t0001g0199 a0022c0031t0001g0190 a0023c0032t0001g0153 a0025c0034t0001g0175 a0030c0045t0001g0203	62	322	0.1926	-6	c.92+ others(21): Show c.92+3105_92+3110delTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31553838	GTTTTTT GTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01167.hp2 others(25): Show HG01070.hp1 HG01074.hp1 HG01167.hp2 HG01243.hp1 HG01496.hp2 HG02004.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp1 HG02622.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18962.hp1 NA19240.hp1	a0002 a0004 a0007 others(3): Show a0002 a0004 a0007 a0009 a0010 a0016	a0002c0002 a0004c0004 a0007c0007 others(5): Show a0002c0002 a0004c0004 a0007c0007 a0007c0023 a0007c0024 a0009c0011 a0010c0017 a0016c0016	a0002c0002t0001 a0002c0002t0003 a0004c0004t0001 others(6): Show a0002c0002t0001 a0002c0002t0003 a0004c0004t0001 a0007c0007t0001 a0007c0023t0001 a0007c0024t0001 a0009c0011t0001 a0010c0017t0001 a0016c0016t0001	a0002c0002t0001g0035 a0002c0002t0001g0058 a0002c0002t0001g0252 others(25): Show a0002c0002t0001g0035 a0002c0002t0001g0058 a0002c0002t0001g0252 a0002c0002t0003g0124 a0002c0002t0003g0125 a0004c0004t0001g0034 a0004c0004t0001g0036 a0004c0004t0001g0037 a0004c0004t0001g0039 a0004c0004t0001g0040 a0004c0004t0001g0048 a0004c0004t0001g0052 a0004c0004t0001g0054 a0007c0007t0001g0296 a0007c0007t0001g0297 a0007c0007t0001g0298 a0007c0007t0001g0299 a0007c0007t0001g0301 a0007c0007t0001g0303 a0007c0007t0001g0310 a0007c0023t0001g0302 a0007c0024t0001g0300 a0009c0011t0001g0044 a0009c0011t0001g0045 a0009c0011t0001g0046 a0010c0017t0001g0308 a0016c0016t0001g0038 a0016c0016t0001g0041	28	322	0.0870	-6	c.545 others(23): Show c.545-3079_545-3074delTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	6/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31568142	ACTCTCT ACTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02258.hp2 others(2): Show HG01516.hp2 HG01517.hp1 HG02258.hp2 HG04204.hp2 NA21309.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0011c0010 a0002c0002 a0011c0010	a0002c0002t0001 a0011c0010t0001 a0002c0002t0001 a0011c0010t0001	a0002c0002t0001g0022 a0011c0010t0001g0004 a0011c0010t0001g0005 others(2): Show a0002c0002t0001g0022 a0011c0010t0001g0004 a0011c0010t0001g0005 a0011c0010t0001g0006 a0011c0010t0001g0007	5	322	0.0155	-6	c.766 others(23): Show c.766-4907_766-4902delCTCTCT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31568161	ATATATG ATATATG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp1 HG02896.hp1 others(1): Show HG02818.hp2 HG02886.hp1 HG02896.hp1 HG03139.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0006 a0006c0008 a0002c0002 a0002c0006 a0006c0008	a0002c0002t0001 a0002c0006t0001 a0006c0008t0001 a0002c0002t0001 a0002c0006t0001 a0006c0008t0001	a0002c0002t0001g0312 a0002c0006t0001g0311 a0006c0008t0001g0316 others(1): Show a0002c0002t0001g0312 a0002c0006t0001g0311 a0006c0008t0001g0316 a0006c0008t0001g0320	4	322	0.0124	-6	c.766 others(23): Show c.766-4895_766-4890delATATGT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31575085	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01123.hp1 others(16): Show HG00408.hp2 HG00609.hp1 HG01123.hp1 HG01346.hp2 HG01884.hp2 HG01934.hp2 HG01993.hp1 HG02293.hp2 HG02895.hp2 HG02965.hp1 HG03710.hp2 NA18943.hp1 NA18979.hp2 NA18983.hp2 NA18992.hp2 NA18993.hp1 NA19056.hp1 NA19091.hp1 NA20129.hp2	a0002 a0005 a0006 others(2): Show a0002 a0005 a0006 a0020 a0024	a0002c0006 a0002c0025 a0005c0005 others(3): Show a0002c0006 a0002c0025 a0005c0005 a0006c0008 a0020c0042 a0024c0030	a0002c0006t0001 a0002c0025t0001 a0005c0005t0001 others(3): Show a0002c0006t0001 a0002c0025t0001 a0005c0005t0001 a0006c0008t0001 a0020c0042t0001 a0024c0030t0001	a0002c0006t0001g0123 a0002c0006t0001g0149 a0002c0025t0001g0321 others(16): Show a0002c0006t0001g0123 a0002c0006t0001g0149 a0002c0025t0001g0321 a0005c0005t0001g0043 a0005c0005t0001g0127 a0005c0005t0001g0129 a0005c0005t0001g0131 a0005c0005t0001g0133 a0005c0005t0001g0137 a0005c0005t0001g0140 a0005c0005t0001g0141 a0005c0005t0001g0142 a0005c0005t0001g0143 a0005c0005t0001g0147 a0005c0005t0001g0150 a0006c0008t0001g0318 a0006c0008t0001g0319 a0020c0042t0001g0146 a0024c0030t0001g0126	19	322	0.0590	-6	c.923 others(21): Show c.923-114_923-109delTGTGTG	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31589211	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01516.hp2 HG01517.hp1 others(11): Show HG00738.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01993.hp1 HG02258.hp2 HG02683.hp2 HG02818.hp2 HG03139.hp2 HG03688.hp1 HG06807.hp1 NA18979.hp1 NA19030.hp1 NA21309.hp1	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0001 a0006c0008 a0006c0013 others(2): Show a0001c0001 a0006c0008 a0006c0013 a0006c0038 a0011c0010	a0001c0001t0001 a0006c0008t0001 a0006c0013t0001 others(2): Show a0001c0001t0001 a0006c0008t0001 a0006c0013t0001 a0006c0038t0001 a0011c0010t0001	a0001c0001t0001g0248 a0006c0008t0001g0015 a0006c0008t0001g0016 others(11): Show a0001c0001t0001g0248 a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0316 a0006c0008t0001g0317 a0006c0008t0001g0318 a0006c0008t0001g0320 a0006c0013t0001g0157 a0006c0013t0001g0158 a0006c0038t0001g0033 a0011c0010t0001g0004 a0011c0010t0001g0005 a0011c0010t0001g0006 a0011c0010t0001g0007	14	322	0.0435	-6	c.141 others(23): Show c.1414-217_1414-212delGTGTGT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	14/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52928621	TATATAC TATATAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00639.hp1 others(91): Show HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03225.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp1 NA18995.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp2 NA19090.hp1 NA20805.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0004c0009 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0008t0001 a0004c0009t0001 a0005c0006t0001	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0040 others(91): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0320 a0001c0001t0002g0221 a0001c0001t0002g0242 a0001c0001t0004g0153 a0001c0003t0001g0186 a0001c0003t0001g0188 a0001c0003t0001g0197 a0001c0003t0001g0204 a0001c0003t0001g0226 a0001c0008t0001g0241 a0004c0009t0001g0206 a0005c0006t0001g0209	94	328	0.2866	-6	c.898 others(21): Show c.898-286_898-281delGTATAT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	8/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52972744	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02647.hp2 others(2): Show HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0002g0061 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0002g0061 a0001c0001t0002g0099 a0001c0001t0002g0137	5	328	0.0152	-6	c.-13 others(25): Show c.-130-3492_-130-3487delGTGTGT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52984726	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00597.hp1 others(75): Show HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01496.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02615.hp2 HG02683.hp1 HG02735.hp2 HG03017.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18979.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18992.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp2 NA19090.hp1 NA20805.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0004c0009 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0008t0001 a0004c0009t0001 a0005c0006t0001	a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 others(75): Show a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0320 a0001c0001t0003g0131 a0001c0003t0001g0186 a0001c0003t0001g0188 a0001c0003t0001g0197 a0001c0003t0001g0204 a0001c0003t0001g0226 a0001c0008t0001g0241 a0004c0009t0001g0206 a0005c0006t0001g0209	78	328	0.2378	-6	c.-13 others(27): Show c.-130-15474_-130-15469delCACACA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53001925	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02922.hp2 others(10): Show HG02486.hp1 HG02622.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA18940.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 others(10): Show a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0320	13	328	0.0396	-6	c.-13 others(27): Show c.-130-32673_-130-32668delTGTGTG	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53040968	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01169.hp2 HG01361.hp1 others(28): Show HG00738.hp2 HG01169.hp2 HG01361.hp1 HG02015.hp2 HG02074.hp2 HG02129.hp1 HG02155.hp1 HG02683.hp2 HG02818.hp2 HG03688.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18947.hp1 NA18951.hp2 NA18957.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18985.hp1 NA19002.hp1 NA19003.hp2 NA19011.hp1 NA19056.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 others(28): Show a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0003g0059 a0001c0001t0003g0082 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0122 a0001c0001t0003g0144 a0001c0001t0003g0145	31	328	0.0945	-6	c.-13 others(25): Show c.-131+4842_-131+4847delAAAAAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53041698	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG03516.hp2 others(3): Show HG02717.hp2 HG03195.hp1 HG03516.hp2 HG03579.hp2 HG03927.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0009 a0001c0001t0002g0287 a0001c0001t0007g0170 others(3): Show a0001c0001t0001g0009 a0001c0001t0002g0287 a0001c0001t0007g0170 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312	6	328	0.0183	-6	c.-13 others(25): Show c.-131+4112_-131+4117delTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7164746	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01070.hp1 others(26): Show HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01255.hp1 HG01261.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01993.hp1 HG02055.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03579.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18906.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA19043.hp1 NA20300.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0002t0002 a0001c0002t0012 a0001c0003t0026 a0006c0011t0010	a0001c0001t0002g0047 a0001c0001t0002g0063 a0001c0001t0002g0067 others(26): Show a0001c0001t0002g0047 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0003g0023 a0001c0001t0003g0033 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0105 a0001c0001t0003g0134 a0001c0001t0003g0138 a0001c0001t0004g0052 a0001c0001t0008g0058 a0001c0001t0008g0102 a0001c0001t0008g0126 a0001c0001t0008g0132 a0001c0001t0008g0143 a0001c0001t0010g0045 a0001c0001t0010g0091 a0001c0001t0018g0062 a0001c0001t0019g0051 a0001c0001t0019g0074 a0001c0002t0002g0037 a0001c0002t0002g0090 a0001c0002t0012g0073 a0001c0003t0026g0020 a0006c0011t0010g0049	29	144	0.2014	-6	c.254 others(23): Show c.2545-842_2545-837delGTGTGT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	20/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7206043	AAAAAAC AAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01891.hp2 HG02257.hp1 others(19): Show HG01071.hp2 HG01891.hp2 HG02257.hp1 HG02486.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp2 HG03942.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0004 a0006c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0024 a0001c0003t0006 a0003c0004t0007 a0006c0011t0010	a0001c0001t0001g0125 a0001c0001t0003g0099 a0001c0001t0004g0052 others(19): Show a0001c0001t0001g0125 a0001c0001t0003g0099 a0001c0001t0004g0052 a0001c0001t0005g0012 a0001c0001t0005g0027 a0001c0001t0008g0126 a0001c0001t0009g0043 a0001c0001t0009g0089 a0001c0001t0010g0003 a0001c0001t0010g0045 a0001c0001t0010g0091 a0001c0001t0014g0097 a0001c0001t0028g0107 a0001c0002t0001g0036 a0001c0002t0002g0037 a0001c0002t0002g0100 a0001c0002t0004g0042 a0001c0002t0024g0072 a0001c0003t0006g0014 a0003c0004t0007g0025 a0003c0004t0007g0040 a0006c0011t0010g0049	22	144	0.1528	-6	c.133 others(23): Show c.1331-121_1331-116delGTTTTT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	11/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7208695	AAAAAAG AAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01071.hp1 others(46): Show HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01192.hp2 HG01261.hp1 HG01884.hp2 HG01891.hp2 HG02148.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp2 HG03540.hp2 HG03942.hp1 HG04199.hp2 NA18983.hp1 NA18995.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0003c0004 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0024 a0001c0003t0006 a0001c0010t0027 a0003c0004t0007 a0006c0011t0010	a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0083 others(46): Show a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0002g0050 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0086 a0001c0001t0003g0099 a0001c0001t0004g0024 a0001c0001t0004g0052 a0001c0001t0004g0098 a0001c0001t0005g0012 a0001c0001t0005g0027 a0001c0001t0008g0058 a0001c0001t0008g0126 a0001c0001t0008g0143 a0001c0001t0009g0043 a0001c0001t0009g0089 a0001c0001t0010g0003 a0001c0001t0010g0045 a0001c0001t0010g0091 a0001c0001t0011g0118 a0001c0001t0011g0119 a0001c0001t0011g0120 a0001c0001t0013g0004 a0001c0001t0014g0097 a0001c0001t0017g0021 a0001c0001t0028g0107 a0001c0001t0031g0136 a0001c0001t0032g0071 a0001c0001t0035g0082 a0001c0002t0001g0036 a0001c0002t0001g0101 a0001c0002t0002g0037 a0001c0002t0002g0100 a0001c0002t0004g0042 a0001c0002t0024g0072 a0001c0003t0006g0014 a0001c0003t0006g0018 a0001c0010t0027g0026 a0003c0004t0007g0025 a0003c0004t0007g0040 a0006c0011t0010g0049	49	144	0.3403	-6	c.133 others(25): Show c.1331-2773_1331-2768delCTTTTT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	11/20			chr10	TogoVar

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