Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	chr	external
SMARCD2_chr17_63827081_63847685	63830695	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0004 a0001c0007 others(4): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002 a0003c0003 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0001 a0001c0007t0002 a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0004g0010 a0001c0001t0005g0029 a0001c0001t0006g0079 a0001c0004t0001g0021 a0001c0007t0002g0062 a0002c0002t0001g0020 a0002c0002t0001g0085 a0003c0003t0001g0026 a0003c0003t0001g0078 a0004c0005t0001g0040 a0004c0005t0001g0044 a0005c0006t0001g0043	238	354	0.6723	-1	c.22 others(6): Show c.2242delA	SMARCD2	ENSG00000108604.18	transcript	ENST00000448276.7	protein_coding		1385	chr17	TogoVar
SMARCD2_chr17_63827081_63847685	63836498	CA CA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02451.hp1 HG02735.hp2 others(3): Show HG01361.hp1 HG02451.hp1 HG02735.hp2 HG02897.hp2 NA18985.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0041	6	354	0.0170	-1	c.567 others(8): Show c.567+423delT	SMARCD2	ENSG00000108604.18	transcript	ENST00000448276.7	protein_coding	4/12		chr17	TogoVar
SMARCD2_chr17_63827081_63847685	63839589	AC AC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 NA19240.hp2 HG01243.hp1 HG01884.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	3	354	0.0085	-1	c.217 others(9): Show c.217-1965delG	SMARCD2	ENSG00000108604.18	transcript	ENST00000448276.7	protein_coding	1/12		chr17	TogoVar
SMARCD2_chr17_63827081_63847685	63839593	AC AC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0004 a0001c0007 others(4): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002 a0003c0003 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0001 a0001c0007t0002 a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0004g0010 a0001c0001t0005g0029 a0001c0001t0006g0079 a0001c0004t0001g0021 a0001c0007t0002g0062 a0002c0002t0001g0020 a0002c0002t0001g0085 a0003c0003t0001g0026 a0003c0003t0001g0078 a0004c0005t0001g0040 a0004c0005t0001g0044 a0005c0006t0001g0043	237	354	0.6695	-1	c.217 others(9): Show c.217-1969delG	SMARCD2	ENSG00000108604.18	transcript	ENST00000448276.7	protein_coding	1/12		chr17	TogoVar
SMARCD2_chr17_63827081_63847685	63840337	AT AT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(91): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG02004.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18950.hp1 NA18952.hp2 NA18971.hp1 NA18982.hp2 NA18998.hp1 NA19005.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19077.hp1 NA19087.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0080 a0001c0001t0002g0012 a0001c0001t0002g0030 a0001c0001t0002g0077 a0001c0001t0006g0079 a0003c0003t0001g0026 a0003c0003t0001g0078	94	354	0.2655	-1	c.216 others(9): Show c.216+2121delA	SMARCD2	ENSG00000108604.18	transcript	ENST00000448276.7	protein_coding	1/12		chr17	TogoVar
SMARCD2_chr17_63827081_63847685	63844229	CT CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG02897.hp1 NA18747.hp2 others(5): Show HG01516.hp1 HG02897.hp1 NA18747.hp2 NA18939.hp1 NA18946.hp1 NA18985.hp2 NA18989.hp2 NA19089.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0002g0002 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0002g0002 a0003c0003t0001g0026	8	354	0.0226	-1	c.-15 others(6): Show c.-1556delA	SMARCD2	ENSG00000108604.18	transcript	ENST00000448276.7	protein_coding		1545	chr17	TogoVar
SMARCD2_chr17_63827081_63847685	63846645	CT CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(222): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(52): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0080 a0001c0001t0002g0066 a0001c0001t0004g0010 a0001c0001t0005g0029 a0001c0004t0001g0021 a0002c0002t0001g0020 a0002c0002t0001g0085 a0003c0003t0001g0026 a0003c0003t0001g0078 a0004c0005t0001g0044 a0005c0006t0001g0043	225	354	0.6356	-1	c.-39 others(6): Show c.-3972delA	SMARCD2	ENSG00000108604.18	transcript	ENST00000448276.7	protein_coding		3961	chr17	TogoVar
SMARCD3_chr7_151233780_151253694	151239988	CT CT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(46): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG01069.hp2 HG01081.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01952.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG03130.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18959.hp2 NA18964.hp1 NA18972.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0054 others(15): Show a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0059 a0001c0001t0002g0079 a0001c0001t0003g0014 a0001c0002t0004g0035	49	382	0.1283	-1	c.117 others(9): Show c.1173+123delA	SMARCD3	ENSG00000082014.17	transcript	ENST00000262188.13	protein_coding	10/12		chr7	TogoVar
SMARCD3_chr7_151233780_151253694	151244229	AC AC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp2 HG03654.hp2 HG02451.hp1 HG02976.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068	3	382	0.0079	-1	c.291 others(8): Show c.291-529delG	SMARCD3	ENSG00000082014.17	transcript	ENST00000262188.13	protein_coding	2/12		chr7	TogoVar
SMARCD3_chr7_151233780_151253694	151244265	AC AC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG01952.hp2 others(3): Show HG01243.hp1 HG01891.hp1 HG01952.hp2 HG02886.hp2 HG03130.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	6	382	0.0157	-1	c.291 others(8): Show c.291-565delG	SMARCD3	ENSG00000082014.17	transcript	ENST00000262188.13	protein_coding	2/12		chr7	TogoVar
SMARCD3_chr7_151233780_151253694	151246591	CA CA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03942.hp1 NA20300.hp1 HG00673.hp1 HG03942.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	3	382	0.0079	-1	c.79- others(7): Show c.79-921delT	SMARCD3	ENSG00000082014.17	transcript	ENST00000262188.13	protein_coding	1/12		chr7	TogoVar
SMARCE1_chr17_40619962_40652818	40622472	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02486.hp2 others(7): Show HG01891.hp2 HG02145.hp2 HG02486.hp2 HG02886.hp2 HG02922.hp1 HG03139.hp1 HG03195.hp2 HG03579.hp1 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0037 a0001c0001t0005 a0001c0001t0037	a0001c0001t0005g0008 a0001c0001t0005g0021 a0001c0001t0037g0106 a0001c0001t0005g0008 a0001c0001t0005g0021 a0001c0001t0037g0106	10	402	0.0249	-1	c.63 others(6): Show c.6312delA	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding		2489	chr17	TogoVar
SMARCE1_chr17_40619962_40652818	40623608	GA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp1 others(90): Show HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19056.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19089.hp2 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0033 a0001c0001t0039 a0004c0002t0003	a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0046 others(28): Show a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0046 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0004g0002 a0001c0001t0007g0013 a0001c0001t0007g0093 a0001c0001t0007g0126 a0001c0001t0007g0130 a0001c0001t0010g0024 a0001c0001t0010g0120 a0001c0001t0011g0022 a0001c0001t0013g0023 a0001c0001t0022g0047 a0001c0001t0023g0111 a0001c0001t0025g0118 a0001c0001t0033g0119 a0001c0001t0039g0132 a0004c0002t0003g0128	93	402	0.2313	-1	c.51 others(6): Show c.5176delT	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding		1353	chr17	TogoVar
SMARCE1_chr17_40619962_40652818	40627718	AT AT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp1 others(125): Show HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(13): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0004c0002t0003	a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0046 others(42): Show a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0046 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0005g0006 a0001c0001t0005g0008 a0001c0001t0005g0012 a0001c0001t0005g0021 a0001c0001t0005g0040 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0007g0013 a0001c0001t0007g0093 a0001c0001t0007g0126 a0001c0001t0007g0130 a0001c0001t0010g0024 a0001c0001t0010g0120 a0001c0001t0011g0022 a0001c0001t0013g0023 a0001c0001t0022g0047 a0001c0001t0024g0108 a0001c0001t0025g0118 a0001c0001t0033g0119 a0001c0001t0036g0109 a0001c0001t0037g0106 a0001c0001t0038g0105 a0001c0001t0039g0132 a0004c0002t0003g0128	128	402	0.3184	-1	c.10 others(6): Show c.1066delA	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	11/11	1066	chr17	TogoVar
SMARCE1_chr17_40619962_40652818	40630389	GT GT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp2 others(35): Show HG01243.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0024 others(4): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0024 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038	a0001c0001t0005g0006 a0001c0001t0005g0008 a0001c0001t0005g0012 others(14): Show a0001c0001t0005g0006 a0001c0001t0005g0008 a0001c0001t0005g0012 a0001c0001t0005g0021 a0001c0001t0005g0040 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0024g0108 a0001c0001t0034g0102 a0001c0001t0036g0109 a0001c0001t0037g0106 a0001c0001t0038g0105	38	402	0.0945	-1	c.102 others(9): Show c.1027+324delA	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	10/10		chr17	TogoVar
SMARCE1_chr17_40619962_40652818	40633662	AT AT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp1 others(87): Show HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19056.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19089.hp2 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(7): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0025 a0001c0001t0033 a0001c0001t0039 a0004c0002t0003	a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0046 others(25): Show a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0046 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0007g0013 a0001c0001t0007g0126 a0001c0001t0007g0130 a0001c0001t0010g0024 a0001c0001t0010g0120 a0001c0001t0011g0022 a0001c0001t0013g0023 a0001c0001t0022g0047 a0001c0001t0025g0118 a0001c0001t0033g0119 a0001c0001t0039g0132 a0004c0002t0003g0128	90	402	0.2239	-1	c.542 others(9): Show c.542-1296delA	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	7/10		chr17	TogoVar
SMARCE1_chr17_40619962_40652818	40635307	TG TG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp2 others(35): Show HG01243.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0024 others(4): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0024 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038	a0001c0001t0005g0006 a0001c0001t0005g0008 a0001c0001t0005g0012 others(14): Show a0001c0001t0005g0006 a0001c0001t0005g0008 a0001c0001t0005g0012 a0001c0001t0005g0021 a0001c0001t0005g0040 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0024g0108 a0001c0001t0034g0102 a0001c0001t0036g0109 a0001c0001t0037g0106 a0001c0001t0038g0105	38	402	0.0945	-1	c.541 others(8): Show c.541+623delC	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	7/10		chr17	TogoVar
SMARCE1_chr17_40619962_40652818	40637029	CA CA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02896.hp2 HG03209.hp2 others(3): Show HG00558.hp2 HG02896.hp2 HG03209.hp2 HG03225.hp1 NA19003.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0098 a0001c0001t0019g0038	6	402	0.0149	-1	c.237 others(8): Show c.237+462delT	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	5/10		chr17	TogoVar
SMARCE1_chr17_40619962_40652818	40637291	GT GT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02622.hp2 NA18522.hp1 HG01081.hp1 HG02622.hp2 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0003 a0004c0002t0003 a0001c0001t0003 a0004c0002t0003	a0001c0001t0003g0127 a0001c0001t0003g0129 a0004c0002t0003g0128 a0001c0001t0003g0127 a0001c0001t0003g0129 a0004c0002t0003g0128	3	402	0.0075	-1	c.237 others(8): Show c.237+200delA	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	5/10		chr17	TogoVar
SMARCE1_chr17_40619962_40652818	40647883	AT AT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01943.hp1 HG02004.hp2 others(6): Show HG01346.hp2 HG01943.hp1 HG02004.hp2 HG02559.hp2 HG03209.hp2 HG03225.hp1 NA18992.hp2 NA19002.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0019 a0001c0001t0023	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0002g0004 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0002g0004 a0001c0001t0015g0028 a0001c0001t0019g0038 a0001c0001t0023g0111	9	402	0.0224	-1	c.-15 others(5): Show c.-157delA	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding		66	chr17	TogoVar
SMARCE1_chr17_40619962_40652818	40650810	TA TA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(279): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0005 a0003c0004 others(1): Show a0001c0001 a0002c0005 a0003c0004 a0004c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0002c0005t0002 a0003c0004t0002 a0004c0002t0003	a0001c0001t0001g0005 a0001c0001t0001g0074 a0001c0001t0002g0004 others(90): Show a0001c0001t0001g0005 a0001c0001t0001g0074 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0046 a0001c0001t0003g0116 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0010 a0001c0001t0004g0020 a0001c0001t0004g0034 a0001c0001t0004g0068 a0001c0001t0004g0071 a0001c0001t0004g0087 a0001c0001t0004g0094 a0001c0001t0004g0112 a0001c0001t0004g0137 a0001c0001t0005g0006 a0001c0001t0005g0008 a0001c0001t0005g0012 a0001c0001t0005g0021 a0001c0001t0005g0040 a0001c0001t0005g0107 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0007g0013 a0001c0001t0007g0093 a0001c0001t0007g0126 a0001c0001t0008g0014 a0001c0001t0008g0088 a0001c0001t0008g0100 a0001c0001t0008g0113 a0001c0001t0010g0024 a0001c0001t0010g0120 a0001c0001t0011g0022 a0001c0001t0012g0045 a0001c0001t0012g0114 a0001c0001t0013g0023 a0001c0001t0018g0076 a0001c0001t0018g0096 a0001c0001t0019g0038 a0001c0001t0020g0036 a0001c0001t0021g0080 a0001c0001t0021g0089 a0001c0001t0022g0047 a0001c0001t0024g0108 a0001c0001t0025g0118 a0001c0001t0026g0075 a0001c0001t0027g0086 a0001c0001t0028g0077 a0001c0001t0029g0078 a0001c0001t0031g0097 a0001c0001t0032g0081 a0001c0001t0033g0119 a0001c0001t0034g0102 a0001c0001t0036g0109 a0001c0001t0037g0106 a0001c0001t0038g0105 a0001c0001t0039g0132 a0002c0005t0002g0069 a0003c0004t0002g0084 a0004c0002t0003g0128	282	402	0.7015	-1	c.-30 others(6): Show c.-3084delT	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding		2993	chr17	TogoVar
SMARCE1_chr17_40619962_40652818	40652738	AT AT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01346.hp2 HG01981.hp2 others(7): Show HG00735.hp2 HG01346.hp2 HG01981.hp2 HG02004.hp2 HG02273.hp1 HG02293.hp1 HG02895.hp1 HG03471.hp2 HG03540.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 others(2): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0039	a0001c0001t0004g0002 a0001c0001t0010g0024 a0001c0001t0012g0045 others(3): Show a0001c0001t0004g0002 a0001c0001t0010g0024 a0001c0001t0012g0045 a0001c0001t0012g0114 a0001c0001t0015g0028 a0001c0001t0039g0132	10	402	0.0249	-1	c.-50 others(6): Show c.-5012delA	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding		4921	chr17	TogoVar
SMC1A_chrX_53369149_53427654	53369453	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0143 a0001c0001t0016g0143	1	213	0.0047	-1	c.10 others(7): Show c.10649delT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding		4695	chrX	TogoVar
SMC1A_chrX_53369149_53427654	53370557	GA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	213	0.0047	-1	c.95 others(6): Show c.9545delT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding		3591	chrX	TogoVar
SMC1A_chrX_53369149_53427654	53372362	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01256.hp1 HG02451.hp1 others(8): Show HG00323.hp2 HG01256.hp1 HG02451.hp1 HG02647.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp1 NA18989.hp1 NA18994.hp1 NA19088.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0090 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0090 a0001c0001t0001g0110 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0002g0003 a0001c0001t0002g0161 a0001c0001t0005g0007	11	213	0.0516	-1	c.77 others(6): Show c.7740delA	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding		1786	chrX	TogoVar
SMC1A_chrX_53369149_53427654	53372686	GT GT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG03540.hp1 HG03704.hp2 HG00738.hp1 HG03540.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0113 a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0113	3	213	0.0141	-1	c.74 others(6): Show c.7416delA	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding		1462	chrX	TogoVar
SMC1A_chrX_53369149_53427654	53377873	AC AC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0143 a0001c0001t0016g0143	1	213	0.0047	-1	c.22 others(6): Show c.2229delG	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	25/25	2229	chrX	TogoVar
SMC1A_chrX_53369149_53427654	53383292	GC GC	G G	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0143 a0001c0001t0016g0143	1	213	0.0047	-1	c.297 others(8): Show c.2974-40delG	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53384264	CT CT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18953.hp1 NA18948.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0001g0023 a0001c0001t0001g0052	2	213	0.0094	-1	c.297 others(10): Show c.2974-1012delA	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53384944	CA CA	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	213	0.0047	-1	c.297 others(10): Show c.2974-1692delT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53385256	GT GT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(69): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01515.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02698.hp1 HG02965.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG04115.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19060.hp1 NA19066.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0007 a0001c0001 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0022 a0001c0004t0002 a0002c0007t0002	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0026 others(65): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0001g0134 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0009g0173 a0001c0001t0010g0197 a0001c0001t0010g0198 a0001c0001t0020g0150 a0001c0001t0022g0151 a0001c0004t0002g0156 a0002c0007t0002g0174	72	213	0.3380	-1	c.297 others(10): Show c.2974-2004delA	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53385277	GT GT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	213	0.0047	-1	c.297 others(10): Show c.2974-2025delA	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53385437	AT AT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp1 NA18953.hp1 HG02559.hp1 HG03579.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0023 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0001g0023 a0001c0001t0007g0009 a0001c0001t0007g0010	3	213	0.0141	-1	c.297 others(10): Show c.2974-2185delA	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53385631	AT AT	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	213	0.0047	-1	c.297 others(10): Show c.2974-2379delA	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53385683	CG CG	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	213	0.0047	-1	c.297 others(10): Show c.2974-2431delC	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53386502	TC TC	T T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	213	0.0047	-1	c.297 others(10): Show c.2974-3250delG	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53388996	CA CA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02040.hp1 HG02145.hp1 others(4): Show HG01069.hp1 HG02040.hp1 HG02145.hp1 HG03041.hp2 NA18948.hp1 NA18953.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0050 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0002g0160 a0001c0001t0005g0007 a0001c0001t0005g0008	7	213	0.0329	-1	c.297 others(10): Show c.2974-5744delT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53389842	CT CT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01934.hp1 others(9): Show HG00099.hp1 HG00735.hp1 HG01934.hp1 HG02602.hp1 HG02717.hp1 HG02922.hp1 HG03041.hp1 HG03209.hp1 HG03540.hp2 NA18942.hp2 NA18974.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0002t0008	a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0047 others(8): Show a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0132 a0001c0001t0002g0186 a0001c0001t0004g0001 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0112 a0001c0001t0016g0143 a0001c0002t0008g0094	12	213	0.0563	-1	c.297 others(10): Show c.2973+4935delA	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53390973	CA CA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(160): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18982.hp1 NA18986.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA19004.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0007 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0002t0008 a0001c0004t0002 a0001c0006t0001 a0002c0007t0002 a0003c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(156): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0003g0111 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0004g0001 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0112 a0001c0001t0004g0126 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0006g0119 a0001c0001t0006g0127 a0001c0001t0006g0129 a0001c0001t0009g0154 a0001c0001t0009g0173 a0001c0001t0010g0197 a0001c0001t0010g0198 a0001c0001t0012g0068 a0001c0001t0013g0137 a0001c0001t0015g0048 a0001c0001t0017g0107 a0001c0001t0018g0063 a0001c0001t0019g0099 a0001c0001t0020g0150 a0001c0002t0008g0094 a0001c0004t0002g0156 a0001c0006t0001g0045 a0002c0007t0002g0174 a0003c0005t0001g0128	163	213	0.7653	-1	c.297 others(10): Show c.2973+3804delT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53391004	GA GA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02965.hp1 HG03831.hp2 others(4): Show HG01169.hp2 HG02965.hp1 HG03831.hp2 NA18612.hp1 NA18940.hp1 NA19091.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0116 others(4): Show a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0116 a0001c0001t0001g0141 a0001c0001t0002g0145 a0001c0001t0002g0159 a0001c0001t0003g0124	7	213	0.0329	-1	c.297 others(10): Show c.2973+3773delT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53391458	TA TA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18942.hp2 NA18953.hp1 others(7): Show HG02559.hp2 NA18942.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18984.hp1 NA19062.hp1 NA19070.hp1 NA19085.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0001 a0001c0001t0002 a0001c0001t0020	a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0062 others(7): Show a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0104 a0001c0001t0002g0160 a0001c0001t0002g0178 a0001c0001t0002g0207 a0001c0001t0020g0150	10	213	0.0470	-1	c.297 others(10): Show c.2973+3319delT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53391514	TA TA	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	213	0.0047	-1	c.297 others(10): Show c.2973+3263delT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53391684	AC AC	A A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	213	0.0047	-1	c.297 others(10): Show c.2973+3093delG	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53392458	AT AT	A A	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0143 a0001c0001t0016g0143	1	213	0.0047	-1	c.297 others(10): Show c.2973+2319delA	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53392833	GC GC	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	213	0.0047	-1	c.297 others(10): Show c.2973+1944delG	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53393332	TA TA	T T	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0143 a0001c0001t0016g0143	1	213	0.0047	-1	c.297 others(10): Show c.2973+1445delT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53393616	TA TA	T T	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0143 a0001c0001t0016g0143	1	213	0.0047	-1	c.297 others(10): Show c.2973+1161delT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53393732	TA TA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0128 a0003c0005t0001g0128	1	213	0.0047	-1	c.297 others(10): Show c.2973+1045delT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53394152	CA CA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp2 others(115): Show HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18982.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0005 a0001c0001 a0001c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0006t0001 a0003c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(115): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0002g0145 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0185 a0001c0001t0003g0098 a0001c0001t0003g0111 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0004g0126 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0006g0119 a0001c0001t0006g0127 a0001c0001t0006g0129 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0012g0068 a0001c0001t0013g0137 a0001c0001t0015g0048 a0001c0001t0017g0107 a0001c0001t0018g0063 a0001c0006t0001g0045 a0003c0005t0001g0128	118	213	0.5540	-1	c.297 others(9): Show c.2973+625delT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53394343	TG TG	T T	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0143 a0001c0001t0016g0143	1	213	0.0047	-1	c.297 others(9): Show c.2973+434delC	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24		chrX	TogoVar

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