Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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	status	chr	external
SMARCAL1_chr2_216407484_216488053	216411392	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18990.hp1 NA18993.hp1 others(1): Show NA18950.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0251 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0251 a0001c0001t0001g0262	4	408	0.0098	-22	c.-13 others(33): Show c.-1351_-1330delAAAAAAAAAAAAAAAAAAAAAA	SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding		1091		chr2	TogoVar
SMARCB1_chr22_23781966_23843009	23820891	GGCTGTGT others(15): Show GGCTGTGTGGGCTAACCCACCCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp2 HG02809.hp1 others(1): Show HG01109.hp1 HG02486.hp2 HG02809.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0034 a0001c0001t0003 a0001c0001t0027 a0001c0001t0034	a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0027g0215 others(1): Show a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0027g0215 a0001c0001t0034g0217	4	363	0.0110	-22	c.795 others(39): Show c.795+3958_795+3979delTGTGTGGGCTAACCCACCCAGC	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCB1_chr22_23781966_23843009	23822957	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00738.hp1 others(2): Show HG00140.hp1 HG00642.hp1 HG00738.hp1 HG01256.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0043 a0001c0002t0003 a0001c0002t0043	a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0180 others(2): Show a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0180 a0001c0002t0003g0197 a0001c0002t0043g0179	5	363	0.0138	-22	c.796 others(39): Show c.796-2248_796-2227delTTTTTTTTTTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47633775	TATATACA others(15): Show TATATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02615.hp2 HG02965.hp2 others(1): Show HG01074.hp2 HG02615.hp2 HG02965.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0002 a0001c0001t0002 a0001c0009t0002	a0001c0001t0002g0089 a0001c0001t0002g0140 a0001c0001t0002g0166 others(1): Show a0001c0001t0002g0089 a0001c0001t0002g0140 a0001c0001t0002g0166 a0001c0009t0002g0088	4	219	0.0183	-22	c.264 others(41): Show c.2646+1393_2646+1414delGTGTGTGTGTGTGTGTGTATAT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	24/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47633777	TATACACA others(15): Show TATACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp2 others(70): Show HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp2 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18961.hp1 NA18967.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18997.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19065.hp2 NA19079.hp2 NA19082.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0004c0006t0002	a0001c0001t0001g0130 a0001c0001t0002g0003 a0001c0001t0002g0083 others(70): Show a0001c0001t0001g0130 a0001c0001t0002g0003 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0183 a0001c0001t0012g0138 a0001c0002t0002g0085 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0143 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0162 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0172 a0001c0002t0010g0103 a0001c0002t0013g0153 a0001c0002t0014g0219 a0004c0006t0002g0002	73	219	0.3333	-22	c.264 others(41): Show c.2646+1391_2646+1412delGTGTGTGTGTGTGTGTGTGTAT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	24/27			chr3	TogoVar
SMC3_chr10_110562695_110611048	110571770	ATTTAAAT others(15): Show ATTTAAATAAAAATGGGTTCATT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(170): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0004t0001 a0001c0006t0001 a0001c0007t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0003g0015 a0001c0001t0003g0065 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0004g0005 a0001c0001t0004g0022 a0001c0001t0004g0167 a0001c0001t0007g0004 a0001c0001t0007g0020 a0001c0001t0007g0076 a0001c0001t0007g0078 a0001c0001t0007g0165 a0001c0001t0008g0001 a0001c0001t0008g0081 a0001c0001t0011g0057 a0001c0001t0011g0058 a0001c0001t0012g0020 a0001c0001t0014g0166 a0001c0001t0016g0048 a0001c0001t0019g0013 a0001c0001t0020g0117 a0001c0001t0024g0022 a0001c0001t0025g0019 a0001c0004t0001g0010 a0001c0004t0001g0062 a0001c0006t0001g0003 a0001c0007t0004g0005	173	328	0.5274	-22	c.92- others(37): Show c.92-1902_92-1881delTGGGTTCATTTTTAAATAAAAA	SMC3	ENSG00000108055.11	transcript	ENST00000361804.5	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
SMC6_chr2_17658812_17758810	17739879	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	254	0.0039	-22	c.239 others(39): Show c.239-1575_239-1554delGTGTGTGTGTGTGTGTGTGTGT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	4/27			chr2	TogoVar
SMCHD1_chr18_2650726_2810017	2708867	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02040.hp2 NA18983.hp1 others(1): Show HG02015.hp1 HG02040.hp2 NA18983.hp1 NA19001.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0002 a0001c0004t0012 a0002c0006t0002 a0001c0004t0002 a0001c0004t0012 a0002c0006t0002	a0001c0004t0002g0045 a0001c0004t0002g0340 a0001c0004t0012g0086 others(1): Show a0001c0004t0002g0045 a0001c0004t0002g0340 a0001c0004t0012g0086 a0002c0006t0002g0066	4	340	0.0118	-22	c.226 others(39): Show c.2260+967_2260+988delTATATATATATATATATATATA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO4_chr11_93473472_93548391	93514374	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02622.hp1 others(4): Show HG01891.hp1 HG02451.hp1 HG02622.hp1 HG03225.hp2 HG03486.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0018g0135	7	412	0.0170	-22	c.-15 others(43): Show c.-153-15048_-153-15027delTATATATATATATATATATATA	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93534213	TATACACA others(15): Show TATACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02132.hp1 HG02074.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0144 a0001c0001t0001g0145	2	412	0.0049	-22	c.-15 others(41): Show c.-154+9041_-154+9062delGTGTGTGTGTGTGTGTGTGTAT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93534215	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19067.hp1 HG02970.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0079 a0001c0001t0010g0224 a0001c0001t0003g0079 a0001c0001t0010g0224	2	412	0.0049	-22	c.-15 others(41): Show c.-154+9039_-154+9060delGTGTGTGTGTGTGTGTGTGTGT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG1_chr16_18799860_18931408	18849069	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01515.hp1 HG02109.hp1 others(7): Show HG01175.hp1 HG01515.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02809.hp2 HG03471.hp2 NA18522.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0008 a0001c0007t0003 a0001c0009t0008 others(1): Show a0001c0001t0008 a0001c0007t0003 a0001c0009t0008 a0001c0009t0029	a0001c0001t0008g0220 a0001c0001t0008g0221 a0001c0007t0003g0176 others(7): Show a0001c0001t0008g0220 a0001c0001t0008g0221 a0001c0007t0003g0176 a0001c0007t0003g0196 a0001c0007t0003g0210 a0001c0007t0003g0211 a0001c0009t0008g0222 a0001c0009t0008g0223 a0001c0009t0008g0224 a0001c0009t0029g0225	10	300	0.0333	-22	c.562 others(39): Show c.5623+126_5623+147delTTTTTTTTTTTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	36/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2121587	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp1 HG02976.hp1 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0020 a0005c0006 a0001c0020 a0005c0006	a0001c0020t0004 a0005c0006t0004 a0001c0020t0004 a0005c0006t0004	a0001c0020t0004g0129 a0005c0006t0004g0104 a0001c0020t0004g0129 a0005c0006t0004g0104	2	278	0.0072	-22	c.335 others(43): Show c.3358-35708_3358-35687delCACACACACACACACACACACA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2236701	TCACACAC others(15): Show TCACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0025 a0025	a0025c0014 a0025c0014	a0025c0014t0012 a0025c0014t0012	a0025c0014t0012g0135 a0025c0014t0012g0135	1	278	0.0036	-22	c.272 others(37): Show c.2724-86_2724-65delTGTGTGTGTGTGTGTGTGTGTG	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	9/18			chr17	TogoVar
SMG8_chr17_59205035_59220230	59219059	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 NA18906.hp1 NA19240.hp1 HG03516.hp2 NA18906.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0001	3	394	0.0076	-22	c.40 others(33): Show c.4058_*4079delTTTTTTTTTTTTTTTTTTTTTT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		3830		chr17	TogoVar
SMIM10L1_chr12_11166194_11181016	11168398	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0000 a0001c0001t0031g0000	1	397	0.0025	-22	c.-29 others(33): Show c.-2958_-2937delAGAAAGAAAGAAAGAAAGAAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2795		chr12	TogoVar
SMIM10_chrX_134985991_134997473	134986764	TCCTTTCT others(15): Show TCCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	322	0.0031	-22	c.-43 others(33): Show c.-4331_-4310delCCTTTCTTTCTTTCTTTCTTTC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4226		chrX	TogoVar
SMIM14_chr4_39541336_39643865	39576672	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	344	0.0029	-22	c.76- others(37): Show c.76-4231_76-4210delAAAAAAAAAATATATATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39619482	ATATCAAT others(15): Show ATATCAATAAATATAATTTATTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00544.hp2 others(51): Show HG00099.hp2 HG00438.hp2 HG00544.hp2 HG00639.hp1 HG00673.hp1 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp1 HG02738.hp2 HG02965.hp1 HG03490.hp2 HG03654.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18971.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18993.hp2 NA19000.hp2 NA19003.hp1 NA19007.hp2 NA19011.hp1 NA19056.hp2 NA19065.hp2 NA19074.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0038 a0001c0001t0048	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 others(51): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0234 a0001c0001t0001g0318 a0001c0001t0002g0127 a0001c0001t0002g0148 a0001c0001t0002g0164 a0001c0001t0002g0201 a0001c0001t0003g0037 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0004g0100 a0001c0001t0004g0126 a0001c0001t0004g0165 a0001c0001t0004g0178 a0001c0001t0004g0338 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0200 a0001c0001t0006g0095 a0001c0001t0007g0251 a0001c0001t0010g0099 a0001c0001t0010g0105 a0001c0001t0010g0107 a0001c0001t0010g0108 a0001c0001t0010g0118 a0001c0001t0010g0136 a0001c0001t0013g0104 a0001c0001t0013g0146 a0001c0001t0015g0075 a0001c0001t0017g0101 a0001c0001t0017g0233 a0001c0001t0018g0144 a0001c0001t0025g0125 a0001c0001t0038g0177 a0001c0001t0048g0109	54	344	0.1570	-22	c.-35 others(41): Show c.-35-14324_-35-14303delGAATAAATTATATTTATTGATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39619506	ATATCAAT others(15): Show ATATCAATAAATATAATTTATTC	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	344	0.0029	-22	c.-35 others(41): Show c.-35-14348_-35-14327delGAATAAATTATATTTATTGATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM18_chr8_30633580_30651064	30650652	CGCCAGCA others(15): Show CGCCAGCAGTGAGCCATGATCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG03225.hp1 HG00738.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0084 a0001c0001t0001g0085	2	430	0.0047	-22	c.50 others(33): Show c.5056_*5077delGCCAGCAGTGAGCCATGATCAT	SMIM18	ENSG00000253457.4	transcript	ENST00000517349.2	protein_coding		4589		chr8	TogoVar
SMIM21_chr18_75404476_75432703	75426631	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(95): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02165.hp2 HG02300.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19054.hp1 NA19058.hp2 NA19059.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0062 a0001c0001t0002g0076 a0001c0001t0003g0002 others(27): Show a0001c0001t0001g0062 a0001c0001t0002g0076 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0031 a0001c0001t0003g0056 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0005g0070 a0001c0001t0005g0074 a0001c0001t0006g0059 a0001c0001t0006g0068 a0001c0001t0010g0030 a0001c0001t0013g0073 a0001c0001t0018g0066 a0001c0001t0019g0067 a0001c0001t0020g0069	98	432	0.2269	-22	c.129 others(37): Show c.129+782_129+803delTTTTTTTTTTTTTTTTTTTTTT	SMIM21	ENSG00000206026.7	transcript	ENST00000579022.5	protein_coding	1/2			chr18	TogoVar
SMIM32_chr5_136186468_136198162	136197149	GAAGCAGC others(15): Show GAAGCAGCTTTCCTAATGAGAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	408	0.0025	-22	c.-46 others(33): Show c.-4647_-4626delATTCTCATTAGGAAAGCTGCTT	SMIM32	ENSG00000271824.2	transcript	ENST00000607574.2	protein_coding		3988		chr5	TogoVar
SMIM35_chr11_117998634_118091963	118067860	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG01243.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0084 a0001c0001t0006g0085 a0001c0001t0006g0084 a0001c0001t0006g0085	2	408	0.0049	-22	c.7+1 others(37): Show c.7+18869_7+18890delATATATATATATATATATATAT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118070731	TCACTGAG others(15): Show TCACTGAGACTGCCGGCAAATTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(84): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00738.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18965.hp2 NA18967.hp1 NA18979.hp2 NA18983.hp2 NA18991.hp2 NA18993.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19084.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0032 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0029 a0002c0002t0036 a0003c0003t0021 a0004c0004t0022 a0004c0004t0026 a0005c0005t0009	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(84): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0223 a0001c0001t0003g0035 a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0094 a0001c0001t0003g0101 a0001c0001t0003g0109 a0001c0001t0003g0307 a0001c0001t0004g0026 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0143 a0001c0001t0004g0316 a0001c0001t0006g0015 a0001c0001t0006g0040 a0001c0001t0006g0151 a0001c0001t0008g0371 a0001c0001t0008g0373 a0001c0001t0008g0380 a0001c0001t0008g0385 a0001c0001t0008g0387 a0001c0001t0008g0388 a0001c0001t0008g0396 a0001c0001t0009g0372 a0001c0001t0009g0383 a0001c0001t0009g0401 a0001c0001t0010g0369 a0001c0001t0010g0378 a0001c0001t0010g0379 a0001c0001t0010g0381 a0001c0001t0010g0382 a0001c0001t0010g0398 a0001c0001t0012g0054 a0001c0001t0015g0036 a0001c0001t0015g0037 a0001c0001t0032g0390 a0002c0002t0002g0005 a0002c0002t0002g0013 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0144 a0002c0002t0002g0319 a0002c0002t0005g0321 a0002c0002t0005g0322 a0002c0002t0005g0323 a0002c0002t0005g0324 a0002c0002t0005g0374 a0002c0002t0005g0375 a0002c0002t0005g0377 a0002c0002t0005g0389 a0002c0002t0005g0391 a0002c0002t0005g0392 a0002c0002t0005g0393 a0002c0002t0005g0394 a0002c0002t0005g0395 a0002c0002t0007g0003 a0002c0002t0007g0010 a0002c0002t0007g0011 a0002c0002t0007g0317 a0002c0002t0007g0318 a0002c0002t0011g0370 a0002c0002t0011g0386 a0002c0002t0011g0402 a0002c0002t0029g0043 a0002c0002t0036g0376 a0003c0003t0021g0053 a0004c0004t0022g0153 a0004c0004t0026g0044 a0005c0005t0009g0384	87	408	0.2132	-22	c.7+1 others(37): Show c.7+15998_7+16019delTAATTTGCCGGCAGTCTCAGTG	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM46_chr19_14107324_14117476	14109979	TATATATA others(15): Show TATATATATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	368	0.0027	-22	c.23 others(33): Show c.2323_*2344delGTATATATATATATATATATAT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2344		chr19	TogoVar
SMIM46_chr19_14107324_14117476	14109981	TATATATA others(15): Show TATATATATATATATATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	368	0.0027	-22	c.23 others(33): Show c.2321_*2342delGTGTATATATATATATATATAT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2342		chr19	TogoVar
SMOC1_chr14_69874416_70037366	69878699	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00738.hp1 HG01243.hp2 others(14): Show HG00597.hp1 HG00738.hp1 HG01243.hp2 HG01884.hp1 HG02015.hp2 HG02055.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03579.hp2 NA18970.hp2 NA18974.hp1 NA19030.hp1 NA19057.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0005c0008 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0002t0002 a0001c0005t0001 a0005c0008t0002 a0006c0010t0001	a0001c0001t0001g0006 a0001c0001t0001g0125 a0001c0001t0001g0222 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0125 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0002g0158 a0001c0001t0002g0207 a0001c0001t0005g0239 a0001c0001t0007g0032 a0001c0001t0007g0034 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0015g0153 a0001c0002t0002g0156 a0001c0005t0001g0040 a0005c0008t0002g0251 a0006c0010t0001g0035	17	270	0.0630	-22	c.-97 others(31): Show c.-979_-958delTGTGTGTGTGTGTGTGTGTGTG	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		716		chr14	TogoVar
SMOC1_chr14_69874416_70037366	69961270	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01256.hp1 others(4): Show HG00741.hp1 HG01069.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01517.hp2 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0004c0012t0001	a0001c0001t0001g0108 a0001c0001t0001g0155 a0001c0001t0002g0003 others(3): Show a0001c0001t0001g0108 a0001c0001t0001g0155 a0001c0001t0002g0003 a0001c0001t0006g0230 a0001c0001t0014g0106 a0004c0012t0001g0107	7	270	0.0259	-22	c.378 others(39): Show c.378+7740_378+7761delGTATATATATATATATATATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC1_chr14_69874416_70037366	69961272	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03486.hp1 NA19043.hp1 others(1): Show HG02647.hp1 HG03486.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0008 a0001c0007t0001 a0001c0001t0001 a0001c0001t0008 a0001c0007t0001	a0001c0001t0001g0028 a0001c0001t0008g0057 a0001c0001t0008g0062 others(1): Show a0001c0001t0001g0028 a0001c0001t0008g0057 a0001c0001t0008g0062 a0001c0007t0001g0124	4	270	0.0148	-22	c.378 others(39): Show c.378+7766_378+7787delATATATATATATATATATATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168513466	TACACACA others(15): Show TACACACACACACATACATACAC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	180	0.0056	-22	c.256 others(39): Show c.256+3394_256+3415delTACATACACACACACACACACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168613801	GCCTCTTC others(15): Show GCCTCTTCTCCTAGAGCCAGCAC	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03492.hp1 HG03834.hp2 others(1): Show HG02602.hp2 HG03492.hp1 HG03834.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0173 a0001c0001t0001g0174 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177	4	180	0.0222	-22	c.907 others(39): Show c.907+5563_907+5584delCCTCTTCTCCTAGAGCCAGCAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168669203	GTCCCCCA others(15): Show GTCCCCCACACCCCGCGTCCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01069.hp1 others(20): Show HG00280.hp1 HG00741.hp1 HG01069.hp1 HG01243.hp1 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG01978.hp1 HG02559.hp2 HG02735.hp1 HG02735.hp2 HG02970.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG04199.hp1 HG04228.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0011 a0004c0009	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(7): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0002t0005 a0001c0002t0007 a0001c0002t0016 a0001c0004t0005 a0001c0007t0005 a0001c0011t0006 a0004c0009t0003	a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0090 others(20): Show a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0149 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0006g0128 a0001c0001t0009g0161 a0001c0002t0005g0069 a0001c0002t0007g0016 a0001c0002t0016g0046 a0001c0004t0005g0048 a0001c0004t0005g0049 a0001c0004t0005g0051 a0001c0007t0005g0050 a0001c0011t0006g0167 a0004c0009t0003g0088	23	180	0.1278	-22	c.27 others(33): Show c.2766_*2787delTCCCCCACACCCCGCGTCCCCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		1212		chr6	TogoVar
SMPX_chrX_21700978_21763116	21707207	CTGTCTTA others(15): Show CTGTCTTATTTGACTTAGCATAA	C C	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18966.hp1 NA18968.hp2 others(4): Show NA18956.hp1 NA18966.hp1 NA18968.hp2 NA18990.hp1 NA19011.hp2 NA19070.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0197 a0001c0001t0001g0215 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0236	7	289	0.0242	-22	c.15 others(37): Show c.15-835_*15-814delTTATGCTAAGTCAAATAAGACA	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SMPX_chrX_21700978_21763116	21728214	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp1 others(101): Show HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01361.hp2 HG01433.hp1 HG01934.hp1 HG01943.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02897.hp1 HG03139.hp1 HG03239.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(85): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0002g0020 a0001c0002t0001g0065	104	289	0.3599	-22	c.14 others(39): Show c.14+9313_*14+9334delGAGAGAGAGAGAGAGAGAGAGA	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SMS_chrX_21935709_21999837	21941884	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00597.hp1 others(30): Show HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG01168.hp2 HG01255.hp1 HG01261.hp1 HG01928.hp1 HG01981.hp2 HG02129.hp1 HG02165.hp2 HG02273.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18961.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18981.hp2 NA18995.hp1 NA18999.hp1 NA19005.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19065.hp1 NA19068.hp1 NA19077.hp2 NA19088.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0003c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0228 others(30): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0007g0239 a0001c0001t0008g0237 a0001c0001t0010g0255 a0003c0006t0001g0230	33	298	0.1107	-22	c.49+ others(37): Show c.49+1029_49+1050delAAAAAAAAAAAAAAAAAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMUG1_chr12_54175366_54193985	54185487	AATAAATA others(15): Show AATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00735.hp2 others(21): Show HG00438.hp1 HG00597.hp1 HG00735.hp2 HG01123.hp2 HG02129.hp1 HG03834.hp2 NA18941.hp1 NA18941.hp2 NA18952.hp2 NA18960.hp2 NA18971.hp2 NA18986.hp2 NA18991.hp1 NA18998.hp2 NA19043.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp2 NA19074.hp1 NA19076.hp2 NA19085.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0001 a0001c0001t0006 a0001c0001t0012	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0065 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0065 a0001c0001t0001g0157 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0006g0209 a0001c0001t0012g0191	24	438	0.0548	-22	c.-19 others(39): Show c.-19-1550_-19-1529delATTTATTTATTTATTTATTTAT	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	2/3			chr12	TogoVar
SMUG1_chr12_54175366_54193985	54188273	TAATAATA others(15): Show TAATAATAATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01261.hp1 HG02293.hp2 others(7): Show HG00099.hp1 HG01261.hp1 HG02293.hp2 HG02886.hp2 NA18949.hp2 NA18972.hp2 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 others(4): Show a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0019 a0001c0001t0003g0076 a0001c0001t0006g0209 a0001c0001t0014g0077	10	438	0.0228	-22	c.-10 others(39): Show c.-103-393_-103-372delTATTATTATTATTATTATTATT	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	1/3			chr12	TogoVar
SMURF1_chr7_99022440_99149108	99063241	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02886.hp1 HG03654.hp1 others(2): Show HG02015.hp2 HG02886.hp1 HG03654.hp1 NA18954.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0002g0239 others(2): Show a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0002g0239 a0001c0001t0003g0140 a0001c0001t0003g0182	5	264	0.0189	-22	c.56- others(37): Show c.56-1426_56-1405delTATATATATATATATATATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99146711	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG03225.hp2 others(2): Show HG02615.hp1 HG02809.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0021 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0021 a0001c0001t0023 a0001c0003t0022	a0001c0001t0001g0016 a0001c0001t0012g0015 a0001c0001t0021g0002 others(2): Show a0001c0001t0001g0016 a0001c0001t0012g0015 a0001c0001t0021g0002 a0001c0001t0023g0004 a0001c0003t0022g0003	5	264	0.0189	-22	c.-29 others(33): Show c.-2953_-2932delTTTTTTTTTTTTTTTTTTTTTT	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding		2604		chr7	TogoVar
SMYD2_chr1_214276159_214342131	214293011	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02055.hp1 others(11): Show HG01069.hp1 HG01071.hp2 HG02055.hp1 HG02486.hp1 HG02630.hp1 HG02717.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(11): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0002g0291	14	380	0.0368	-22	c.173 others(41): Show c.173+11620_173+11641delGTGTGTGTGTGTGTGTGTGTGT	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245813860	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00741.hp1 others(21): Show HG00544.hp2 HG00597.hp2 HG00741.hp1 HG01433.hp1 HG01496.hp1 HG01952.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02615.hp1 HG02922.hp1 HG03017.hp1 HG03098.hp2 HG03209.hp1 HG03491.hp1 HG04228.hp2 NA18747.hp1 NA18965.hp2 NA19000.hp1 NA19030.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(3): Show a0001c0001 a0001c0002 a0001c0011 a0001c0014 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0011t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001	a0001c0001t0001g0042 a0001c0001t0001g0075 a0001c0001t0001g0089 others(21): Show a0001c0001t0001g0042 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0002g0014 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0002t0001g0024 a0001c0002t0001g0041 a0001c0011t0002g0049 a0001c0014t0002g0091 a0002c0003t0001g0103 a0002c0003t0001g0144 a0002c0003t0002g0130 a0002c0003t0002g0143 a0002c0004t0001g0117 a0002c0004t0001g0126 a0002c0004t0001g0127	24	150	0.1600	-22	c.107 others(43): Show c.1076+44614_1076+44635delTATATATATATATATATATATA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245993577	AAAAGATA others(15): Show AAAAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG01175.hp1 others(17): Show HG00140.hp1 HG00597.hp1 HG01175.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02109.hp2 HG02132.hp2 HG02273.hp2 HG02559.hp1 HG02602.hp2 HG02886.hp1 HG03491.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0002g0004 others(17): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0002g0070 a0001c0002t0002g0078 a0001c0002t0002g0088 a0002c0003t0001g0109 a0002c0003t0001g0137	20	150	0.1333	-22	c.532 others(41): Show c.532-63662_532-63641delATCTATCTATCTATCTATCTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246116201	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01109.hp1 others(18): Show HG00140.hp2 HG00733.hp2 HG01109.hp1 HG01243.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03579.hp2 HG04228.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 others(4): Show a0001c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0017	a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 others(9): Show a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001	a0001c0002t0001g0024 a0001c0002t0002g0077 a0002c0003t0001g0096 others(18): Show a0001c0002t0001g0024 a0001c0002t0002g0077 a0002c0003t0001g0096 a0002c0003t0001g0109 a0002c0003t0001g0141 a0002c0003t0002g0095 a0002c0003t0002g0114 a0002c0004t0001g0107 a0002c0004t0001g0129 a0002c0004t0001g0140 a0002c0004t0001g0149 a0002c0004t0002g0139 a0002c0005t0001g0142 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0017t0001g0122	21	150	0.1400	-22	c.532 others(43): Show c.532-186286_532-186265delGTGTGTGTGTGTGTGTGTGTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246249299	TCACCATG others(15): Show TCACCATGTTGGCCAGGCTGGTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(51): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03579.hp1 HG03831.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18984.hp1 NA19000.hp1 NA19057.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0012 a0001c0014 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0017 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001 a0004c0013t0002	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0038 others(51): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0002t0001g0015 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0002g0010 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0006t0001g0035 a0001c0011t0002g0049 a0001c0012t0002g0074 a0001c0014t0002g0091 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0109 a0002c0003t0001g0148 a0002c0003t0002g0104 a0002c0003t0002g0131 a0002c0004t0001g0098 a0002c0004t0001g0121 a0002c0005t0001g0138 a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0017t0001g0122 a0004c0013t0002g0072	54	150	0.3600	-22	c.531 others(41): Show c.531+77880_531+77901delGACCAGCCTGGCCAACATGGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD4_chr17_1774485_1834902	1833346	TTGCATGA others(15): Show TTGCATGAATGAATGAGGCAGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0158 a0005c0004t0003g0158	1	390	0.0026	-22	c.-36 others(33): Show c.-3655_-3634delCACTGCCTCATTCATTCATGCA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding		3445		chr17	TogoVar
SNAP29_chr22_20854007_20896214	20874349	CCACACAC others(15): Show CCACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01074.hp1 HG01123.hp1 others(27): Show HG00673.hp2 HG01074.hp1 HG01123.hp1 HG01243.hp2 HG02027.hp2 HG02071.hp1 HG02165.hp1 HG02523.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp1 HG02970.hp1 HG03041.hp2 HG03239.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp1 NA18906.hp2 NA18949.hp2 NA18952.hp2 NA18970.hp2 NA18974.hp1 NA18989.hp1 NA18999.hp1 NA19007.hp1 NA19077.hp2 NA19086.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0022 others(6): Show a0001c0001t0003 a0001c0001t0021 a0001c0001t0022 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046	a0001c0001t0003g0015 a0001c0001t0003g0049 a0001c0001t0003g0135 others(26): Show a0001c0001t0003g0015 a0001c0001t0003g0049 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0021g0142 a0001c0001t0021g0143 a0001c0001t0021g0146 a0001c0001t0022g0138 a0001c0001t0022g0154 a0001c0001t0022g0161 a0001c0001t0040g0207 a0001c0001t0040g0208 a0001c0001t0042g0153 a0001c0001t0043g0150 a0001c0001t0044g0136 a0001c0001t0045g0149 a0001c0001t0046g0162	30	382	0.0785	-22	c.434 others(39): Show c.434+3842_434+3863delACACACACACACACACACACAC	SNAP29	ENSG00000099940.12	transcript	ENST00000215730.12	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
SNCG_chr10_86953599_86968258	86967150	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG03017.hp2 HG03098.hp1 HG02896.hp1 HG03017.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0008 a0002c0002t0002g0015 a0001c0001t0001g0008 a0002c0002t0002g0015	3	400	0.0075	-22	c.41 others(33): Show c.4166_*4187delGTGTGTGTGTGTGTGTGTGTGT	SNCG	ENSG00000173267.14	transcript	ENST00000372017.4	protein_coding		3893		chr10	TogoVar
SND1_chr7_127647194_128097593	127953151	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG04199.hp1 HG03130.hp1 HG04199.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0003c0005t0001 a0001c0001t0003 a0003c0005t0001	a0001c0001t0003g0259 a0003c0005t0001g0181 a0001c0001t0003g0259 a0003c0005t0001g0181	2	262	0.0076	-22	c.166 others(43): Show c.1669+23871_1669+23892delGTGTGTGTGTGTGTGTGTGTGT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SND1_chr7_127647194_128097593	127953200	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	262	0.0038	-22	c.166 others(43): Show c.1669+23875_1669+23896delGTGTGTGTGTGTGTGTGTATGT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar

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