Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMIM10_chrX_134985991_134997473	134986706	TTTTCTTC TTTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 NA18946.hp2 NA18973.hp2 HG00140.hp1 NA18946.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0001g0000 a0001c0001t0003g0000	3	293	0.0102	-7	c.-43 others(18): Show c.-4389_-4383delTTTCTTC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4284		chrX	TogoVar
SMIM14_chr4_39541336_39643865	39576684	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG01074.hp2 others(24): Show HG00408.hp1 HG00438.hp2 HG01074.hp2 HG01099.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG02040.hp1 HG02132.hp2 HG02300.hp1 HG02738.hp1 HG03471.hp2 NA18946.hp1 NA18950.hp2 NA18953.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18994.hp1 NA19002.hp1 NA19003.hp1 NA19056.hp2 NA19074.hp1 NA19085.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0045	a0001c0001t0001g0001 a0001c0001t0001g0113 a0001c0001t0001g0114 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0161 a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0001g0284 a0001c0001t0001g0296 a0001c0001t0003g0184 a0001c0001t0004g0144 a0001c0001t0005g0002 a0001c0001t0005g0133 a0001c0001t0005g0225 a0001c0001t0010g0094 a0001c0001t0010g0102 a0001c0001t0010g0295 a0001c0001t0017g0104 a0001c0001t0017g0232 a0001c0001t0018g0097 a0001c0001t0045g0316	27	200	0.1350	-7	c.76- others(22): Show c.76-4228_76-4222delAAAAAAA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39614185	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01109.hp1 HG02258.hp2 others(24): Show HG00438.hp1 HG01109.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03540.hp1 HG03579.hp1 NA19054.hp1 NA19068.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0024 a0001c0001t0035 a0001c0001t0044	a0001c0001t0001g0043 a0001c0001t0001g0285 a0001c0001t0003g0257 others(24): Show a0001c0001t0001g0043 a0001c0001t0001g0285 a0001c0001t0003g0257 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0007g0234 a0001c0001t0007g0250 a0001c0001t0007g0252 a0001c0001t0007g0256 a0001c0001t0007g0258 a0001c0001t0007g0259 a0001c0001t0007g0293 a0001c0001t0007g0311 a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0044 a0001c0001t0008g0045 a0001c0001t0008g0046 a0001c0001t0008g0047 a0001c0001t0008g0082 a0001c0001t0008g0226 a0001c0001t0008g0300 a0001c0001t0008g0302 a0001c0001t0024g0083 a0001c0001t0024g0251 a0001c0001t0035g0308 a0001c0001t0044g0231	27	101	0.2673	-7	c.-35 others(24): Show c.-35-9012_-35-9006delTTTTTTT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM18_chr8_30633580_30651064	30646979	CAAAAAAA CAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp2 others(105): Show HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02738.hp2 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0003 a0001c0001t0004 a0003c0002t0003 a0001c0001t0003 a0001c0001t0004 a0003c0002t0003	a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0011 others(12): Show a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0017 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0042 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0004g0001 a0003c0002t0003g0001	108	139	0.7770	-7	c.13 others(18): Show c.1383_*1389delAAAAAAA	SMIM18	ENSG00000253457.4	transcript	ENST00000517349.2	protein_coding		916		chr8	TogoVar
SMIM21_chr18_75404476_75432703	75416790	TTGGTGTC TTGGTGTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(278): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0002c0002t0001 a0003c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(114): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0076 a0001c0001t0002g0108 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0151 a0001c0001t0004g0103 a0001c0001t0004g0144 a0001c0001t0005g0013 a0001c0001t0005g0041 a0001c0001t0005g0146 a0001c0001t0006g0021 a0001c0001t0006g0039 a0001c0001t0006g0120 a0001c0001t0008g0089 a0001c0001t0008g0092 a0001c0001t0009g0115 a0001c0001t0009g0137 a0001c0001t0011g0110 a0001c0001t0012g0173 a0001c0001t0015g0140 a0001c0001t0016g0156 a0001c0001t0021g0174 a0001c0001t0022g0175 a0002c0002t0001g0029 a0003c0003t0002g0127	281	430	0.6535	-7	c.260 others(24): Show c.260+1989_260+1995delGACACCA	SMIM21	ENSG00000206026.7	transcript	ENST00000579022.5	protein_coding	2/2			chr18	TogoVar
SMIM21_chr18_75404476_75432703	75426631	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01261.hp1 others(46): Show HG01070.hp1 HG01074.hp1 HG01261.hp1 HG01433.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp2 HG02129.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02622.hp2 HG02922.hp1 HG03017.hp1 HG03130.hp1 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG03710.hp1 NA18939.hp1 NA18942.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp2 NA18994.hp2 NA18998.hp2 NA19001.hp2 NA19003.hp1 NA19007.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19075.hp1 NA19075.hp2 NA19080.hp2 NA19081.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0017 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0151 a0001c0001t0003g0148 a0001c0001t0012g0173 a0002c0002t0001g0029	49	66	0.7424	-7	c.129 others(22): Show c.129+797_129+803delTTTTTTT	SMIM21	ENSG00000206026.7	transcript	ENST00000579022.5	protein_coding	1/2			chr18	TogoVar
SMIM22_chr16_4790369_4801491	4795461	CCTGGGGG CCTGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(71): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18950.hp2 NA18968.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19077.hp2 NA19082.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0003 a0001c0001t0002g0008	74	400	0.1850	-7	c.-21 others(20): Show c.-21+18_-21+24delGGCTGGG	SMIM22	ENSG00000267795.6	transcript	ENST00000586005.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
SMIM23_chr5_171780817_171796136	171787004	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01192.hp1 others(5): Show HG00099.hp2 HG00733.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01993.hp1 HG02132.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	8	76	0.1053	-7	c.105 others(24): Show c.105+1054_105+1060delTTTTTTT	SMIM23	ENSG00000185662.11	transcript	ENST00000523047.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMIM26_chr20_18562432_18574560	18564769	TGGCTTGG TGGCTTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG01981.hp2 others(8): Show HG00140.hp2 HG00558.hp1 HG01981.hp2 HG02027.hp1 HG02071.hp2 HG02148.hp1 HG02683.hp1 NA18612.hp2 NA18954.hp2 NA18965.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	11	438	0.0251	-7	c.-27 others(18): Show c.-2709_-2703delGGCTTGG	SMIM26	ENSG00000232388.5	transcript	ENST00000411646.2	protein_coding		2662		chr20	TogoVar
SMIM2_chr13_44138150_44166257	44143996	CTGACCTA CTGACCTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00741.hp1 others(36): Show HG00099.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01255.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01981.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG03710.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 others(22): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0134	39	378	0.1032	-7	c.254 others(20): Show c.254-81_254-75delTAGGTCA	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding	2/2			chr13	TogoVar
SMIM31_chr4_164749131_164808795	164774168	GAAAAAAA GAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02132.hp2 HG02280.hp1 others(8): Show HG01109.hp1 HG02132.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG03098.hp1 HG03453.hp2 NA18906.hp1 NA18965.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0030 a0001c0002t0002 a0002c0003t0007	a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0041 others(8): Show a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0122 a0001c0001t0002g0265 a0001c0001t0003g0241 a0001c0001t0019g0242 a0001c0001t0019g0266 a0001c0001t0030g0097 a0001c0002t0002g0046 a0002c0003t0007g0277	11	126	0.0873	-7	c.112 others(24): Show c.112+3624_112+3630delAAAAAAA	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164807953	CTTTTTTG CTTTTTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01168.hp2 others(7): Show HG00099.hp2 HG00639.hp1 HG01168.hp2 HG01934.hp1 HG01952.hp2 HG03540.hp2 NA18954.hp2 NA18975.hp2 NA19056.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0082 a0001c0001t0001g0155 a0001c0001t0001g0217 others(7): Show a0001c0001t0001g0082 a0001c0001t0001g0155 a0001c0001t0001g0217 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0309 a0001c0001t0006g0168 a0001c0001t0006g0173	10	362	0.0276	-7	c.67 others(18): Show c.6760_*6766delTTTTTTG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding		4159		chr4	TogoVar
SMIM35_chr11_117998634_118091963	118071994	AGGGAAGG AGGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02630.hp2 others(2): Show HG02055.hp1 HG02280.hp2 HG02630.hp2 HG02976.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0019 a0001c0001t0009 a0001c0001t0010 a0001c0001t0019	a0001c0001t0009g0358 a0001c0001t0009g0396 a0001c0001t0009g0397 others(2): Show a0001c0001t0009g0358 a0001c0001t0009g0396 a0001c0001t0009g0397 a0001c0001t0010g0355 a0001c0001t0019g0356	5	406	0.0123	-7	c.7+1 others(22): Show c.7+14750_7+14756delCCTTCCC	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118078042	AAAGAAAG AAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02109.hp2 HG02145.hp2 others(11): Show HG00642.hp1 HG02109.hp2 HG02145.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp1 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 others(4): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0034 a0002c0002t0011 a0003c0003t0020	a0001c0001t0009g0358 a0001c0001t0009g0359 a0001c0001t0010g0357 others(11): Show a0001c0001t0009g0358 a0001c0001t0009g0359 a0001c0001t0010g0357 a0001c0001t0010g0360 a0001c0001t0010g0402 a0001c0001t0014g0362 a0001c0001t0014g0403 a0001c0001t0019g0364 a0001c0001t0034g0404 a0002c0002t0011g0361 a0002c0002t0011g0363 a0002c0002t0011g0365 a0002c0002t0011g0400 a0003c0003t0020g0007	14	243	0.0576	-7	c.7+8 others(20): Show c.7+8702_7+8708delCTTTCTT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55501214	ATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18964.hp2 NA18977.hp2 others(2): Show NA18945.hp2 NA18964.hp2 NA18977.hp2 NA18980.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0038 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0062	5	189	0.0265	-7	c.17 others(26): Show c.174+9658_*174+9664delATATATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM39_chr2_131030092_131040262	131032848	CTTTTTTT CTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02735.hp1 HG03688.hp1 others(6): Show HG02602.hp2 HG02735.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG04204.hp1 NA18959.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	9	261	0.0345	-7	c.-22 others(18): Show c.-2243_-2237delTTTTTTT	SMIM39	ENSG00000284479.3	transcript	ENST00000711663.1	protein_coding		2243		chr2	TogoVar
SMIM3_chr5_150773757_150801734	150783914	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp2 others(75): Show HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01496.hp1 HG02015.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02280.hp2 HG02523.hp1 HG02630.hp2 HG02683.hp2 HG02809.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp2 NA19012.hp2 NA19055.hp2 NA19062.hp1 NA19067.hp2 NA19070.hp1 NA19075.hp1 NA19078.hp1 NA19080.hp1 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0002c0002t0001 a0005c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0019 others(31): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0002g0020 a0001c0001t0005g0002 a0001c0001t0007g0019 a0002c0002t0001g0013 a0002c0002t0001g0026 a0005c0005t0001g0002	78	354	0.2203	-7	c.-12 others(24): Show c.-12+4959_-12+4965delTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMIM40_chr6_33318628_33334279	33324882	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG02027.hp2 others(4): Show HG00642.hp2 HG01081.hp2 HG02027.hp2 HG02040.hp2 HG02523.hp2 HG02647.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0057 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0118 a0001c0001t0001g0121	7	53	0.1321	-7	c.40 others(22): Show c.40-859_*40-853delTTTTTTT	SMIM40	ENSG00000286920.2	transcript	ENST00000494082.3	protein_coding	1/2			chr6	TogoVar
SMIM45_chr22_41947150_41963939	41957181	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02523.hp1 others(3): Show HG01109.hp2 HG02055.hp2 HG02523.hp1 HG02970.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0022	a0001c0001t0001g0135 a0001c0001t0009g0072 a0001c0001t0012g0027 others(1): Show a0001c0001t0001g0135 a0001c0001t0009g0072 a0001c0001t0012g0027 a0001c0001t0022g0078	6	129	0.0465	-7	c.-14 others(22): Show c.-14-470_-14-464delTTTTTTT	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM47_chr19_50780728_50791160	50781797	CAAAAAAA CAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(58): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01517.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp1 HG02074.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02300.hp1 HG02451.hp1 HG02809.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03239.hp2 HG03491.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18945.hp1 NA18945.hp2 NA18964.hp2 NA18967.hp1 NA18983.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19056.hp2 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19087.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0005	61	234	0.2607	-7	c.40 others(18): Show c.4008_*4014delTTTTTTT	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		3930		chr19	TogoVar
SMIM7_chr19_16641148_16665144	16648774	AGGTGGGT AGGTGGGT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02895.hp1 others(3): Show HG02572.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp1 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0056 a0001c0001t0007g0057 others(1): Show a0001c0001t0007g0018 a0001c0001t0007g0056 a0001c0001t0007g0057 a0001c0001t0007g0060	6	358	0.0168	-7	c.213 others(24): Show c.213-1520_213-1514delACCCACC	SMIM7	ENSG00000214046.9	transcript	ENST00000487416.7	protein_coding	4/4			chr19	TogoVar
SMIM7_chr19_16641148_16665144	16657372	GATCTGTA GATCTGTA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03834.hp1 HG03942.hp2 others(3): Show HG03490.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0129 a0001c0001t0005g0132 a0001c0001t0005g0014 a0001c0001t0005g0129 a0001c0001t0005g0132	6	358	0.0168	-7	c.121 others(24): Show c.121+2016_121+2022delTACAGAT	SMIM7	ENSG00000214046.9	transcript	ENST00000487416.7	protein_coding	3/4			chr19	TogoVar
SMIM8_chr6_87317588_87347329	87335845	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp2 HG03098.hp2 others(3): Show HG02615.hp2 HG02809.hp2 HG03098.hp2 HG03516.hp2 NA18974.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0003 a0001c0002t0024 a0001c0001t0011 a0001c0002t0003 a0001c0002t0024	a0001c0001t0011g0043 a0001c0001t0011g0143 a0001c0002t0003g0103 others(2): Show a0001c0001t0011g0043 a0001c0001t0011g0143 a0001c0002t0003g0103 a0001c0002t0003g0118 a0001c0002t0024g0108	6	211	0.0284	-7	c.-23 others(24): Show c.-23-1145_-23-1139delAAAAAAA	SMIM8	ENSG00000111850.11	transcript	ENST00000392863.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC1_chr14_69874416_70037366	69967554	CCAAAAGA CCAAAAGA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02622.hp2 HG03098.hp1 others(1): Show HG01081.hp1 HG02622.hp2 HG03098.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0019g0064	4	268	0.0149	-7	c.379 others(24): Show c.379-8160_379-8154delCAAAAGA	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11			chr14	TogoVar
SMOX_chr20_4143828_4192727	4150838	TTTTTTTC TTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01981.hp2 HG02055.hp1 others(27): Show HG01433.hp1 HG01981.hp2 HG02055.hp1 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18946.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0002c0017 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0006t0001 a0002c0017t0002 a0004c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0321 a0001c0001t0001g0326 others(21): Show a0001c0001t0001g0006 a0001c0001t0001g0321 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0001t0002g0324 a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0190 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0323 a0001c0002t0001g0332 a0001c0002t0001g0334 a0001c0002t0002g0325 a0001c0002t0002g0335 a0001c0003t0001g0318 a0001c0003t0001g0333 a0001c0003t0003g0329 a0001c0005t0001g0328 a0001c0005t0001g0330 a0001c0006t0001g0336 a0002c0017t0002g0322 a0004c0013t0001g0024	30	426	0.0704	-7	c.-27 others(24): Show c.-27+1865_-27+1871delTTTCTTT	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMOX_chr20_4143828_4192727	4162233	TTCCCCAC TTCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02615.hp2 others(6): Show HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0001 a0001c0003t0001 a0001c0015t0001 a0001c0001t0001 a0001c0003t0001 a0001c0015t0001	a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0003t0001g0147 others(6): Show a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0003t0001g0147 a0001c0003t0001g0165 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0170 a0001c0003t0001g0175 a0001c0015t0001g0169	9	426	0.0211	-7	c.-26 others(26): Show c.-26-12785_-26-12779delCACTCCC	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMR3A_chr4_70355760_70372158	70369122	TGGGAAAA TGGGAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(130): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01517.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18989.hp1 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009	133	456	0.2917	-7	c.21 others(18): Show c.2129_*2135delGGGAAAA	SMR3A	ENSG00000109208.5	transcript	ENST00000226460.5	protein_coding		1965		chr4	TogoVar
SMR3B_chr4_70378131_70395244	70393561	GTCATGAC GTCATGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00733.hp1 others(41): Show HG00099.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02698.hp2 HG03654.hp2 HG03704.hp1 HG03927.hp2 HG04204.hp1 NA18947.hp2 NA18970.hp2 NA18979.hp1 NA18985.hp1 NA19003.hp2 NA19067.hp1 NA19076.hp1 NA19077.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0023 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0052	44	460	0.0957	-7	c.37 others(18): Show c.3714_*3720delTCATGAC	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		3318		chr4	TogoVar
SMS_chrX_21935709_21999837	21944522	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG01516.hp1 others(3): Show HG00741.hp2 HG01256.hp1 HG01516.hp1 HG01517.hp2 HG02155.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0004g0063 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0005g0285	6	162	0.0370	-7	c.49+ others(22): Show c.49+3666_49+3672delAAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMURF1_chr7_99022440_99149108	99119003	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02895.hp1 others(9): Show HG02109.hp1 HG02257.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03942.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0026 a0001c0002t0002	a0001c0001t0002g0234 a0001c0001t0003g0123 a0001c0001t0003g0147 others(9): Show a0001c0001t0002g0234 a0001c0001t0003g0123 a0001c0001t0003g0147 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0011g0171 a0001c0001t0011g0172 a0001c0001t0012g0183 a0001c0001t0020g0256 a0001c0001t0020g0259 a0001c0001t0026g0017 a0001c0002t0002g0226	12	15	0.8000	-7	c.55+ others(24): Show c.55+24716_55+24722delAAAAAAA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99146711	TAAAAAAA TAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01168.hp1 HG02109.hp1 others(17): Show HG00280.hp2 HG01168.hp1 HG02109.hp1 HG02451.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03516.hp2 NA18747.hp2 NA18984.hp2 NA18987.hp1 NA18994.hp2 NA19002.hp2 NA19062.hp2 NA19070.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0001c0001t0031 a0001c0001t0044 a0001c0002t0001 a0001c0002t0008 a0001c0003t0019	a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 others(17): Show a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0003g0145 a0001c0001t0003g0148 a0001c0001t0011g0168 a0001c0001t0018g0261 a0001c0001t0018g0262 a0001c0001t0020g0256 a0001c0001t0020g0259 a0001c0001t0031g0135 a0001c0001t0044g0260 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0008g0127 a0001c0003t0019g0257 a0001c0003t0019g0258	20	26	0.7692	-7	c.-29 others(18): Show c.-2938_-2932delTTTTTTT	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding		2604		chr7	TogoVar
SMURF2_chr17_64537282_64667307	64542869	GTACACTA GTACACTA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG01891.hp1 others(16): Show HG01243.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0004 a0001c0002t0012 others(2): Show a0001c0001t0016 a0001c0002t0004 a0001c0002t0012 a0001c0002t0013 a0001c0002t0023	a0001c0001t0016g0001 a0001c0002t0004g0005 a0001c0002t0004g0006 others(16): Show a0001c0001t0016g0001 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0009 a0001c0002t0004g0010 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0012g0168 a0001c0002t0012g0169 a0001c0002t0012g0170 a0001c0002t0013g0046 a0001c0002t0013g0147 a0001c0002t0023g0045	19	172	0.1105	-7	c.29 others(18): Show c.2972_*2978delTAGTGTA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	19/19	2972		chr17	TogoVar
SMURF2_chr17_64537282_64667307	64573212	GAGGAGGA GAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp2 HG01884.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0167 a0001c0001t0005g0162 a0001c0001t0005g0167	2	172	0.0116	-7	c.858 others(24): Show c.858-1263_858-1257delTCCTCCT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	9/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64596585	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02055.hp1 others(14): Show HG01243.hp1 HG01884.hp1 HG02055.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0013 others(1): Show a0001c0002t0004 a0001c0002t0012 a0001c0002t0013 a0001c0002t0023	a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 others(14): Show a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0010 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0012g0168 a0001c0002t0012g0169 a0001c0002t0012g0170 a0001c0002t0013g0046 a0001c0002t0013g0147 a0001c0002t0023g0045	17	98	0.1735	-7	c.200 others(24): Show c.200+1790_200+1796delTTTTTTT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	3/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64631282	GAGAGAGA GAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03490.hp2 HG01496.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0121 a0001c0001t0002g0122	2	145	0.0138	-7	c.53- others(24): Show c.53-24649_53-24643delTCTCTCT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18			chr17	TogoVar
SMYD1_chr2_88062825_88118384	88065593	CTTTTTTT CTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(31): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01934.hp2 HG01993.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02486.hp2 HG02572.hp2 HG02683.hp2 HG02738.hp2 HG02886.hp1 HG03927.hp2 HG04184.hp1 NA18972.hp2 NA19043.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0025 a0002c0006 a0006c0024	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0016 a0001c0005t0002 a0001c0008t0002 a0001c0011t0002 a0001c0025t0003 a0002c0006t0001 a0002c0006t0017 a0006c0024t0003	a0001c0001t0002g0174 a0001c0001t0003g0179 a0001c0003t0002g0069 others(29): Show a0001c0001t0002g0174 a0001c0001t0003g0179 a0001c0003t0002g0069 a0001c0003t0002g0074 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0175 a0001c0003t0003g0007 a0001c0003t0003g0066 a0001c0003t0003g0073 a0001c0003t0003g0076 a0001c0003t0003g0176 a0001c0003t0003g0178 a0001c0003t0004g0063 a0001c0004t0001g0093 a0001c0004t0001g0173 a0001c0004t0016g0067 a0001c0005t0002g0064 a0001c0005t0002g0065 a0001c0005t0002g0070 a0001c0005t0002g0072 a0001c0005t0002g0180 a0001c0008t0002g0075 a0001c0011t0002g0021 a0001c0011t0002g0253 a0001c0011t0002g0254 a0001c0011t0002g0255 a0001c0011t0002g0256 a0001c0025t0003g0177 a0002c0006t0001g0095 a0002c0006t0017g0244 a0006c0024t0003g0068	34	94	0.3617	-7	c.-22 others(18): Show c.-2271_-2265delTTTTTTT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2231		chr2	TogoVar
SMYD3_chr1_245744347_246512279	245861871	TCTTCTAA TCTTCTAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00544.hp1 others(40): Show HG00140.hp1 HG00140.hp2 HG00544.hp1 HG00597.hp1 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01433.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03491.hp2 HG03579.hp2 HG04115.hp1 HG04115.hp2 NA18962.hp1 NA18963.hp1 NA18984.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0001c0014 others(4): Show a0001c0002 a0001c0009 a0001c0014 a0002c0003 a0002c0004 a0002c0016 a0002c0017	a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 a0001c0014t0002 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0016t0001 a0002c0017t0001	a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0015 others(40): Show a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0086 a0001c0002t0002g0010 a0001c0002t0002g0024 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0048 a0001c0002t0002g0052 a0001c0002t0002g0061 a0001c0002t0002g0083 a0001c0009t0001g0002 a0001c0014t0002g0055 a0002c0003t0002g0150 a0002c0004t0001g0098 a0002c0004t0001g0107 a0002c0004t0001g0117 a0002c0004t0001g0128 a0002c0004t0001g0132 a0002c0004t0001g0134 a0002c0004t0001g0138 a0002c0004t0001g0143 a0002c0004t0001g0144 a0002c0004t0001g0146 a0002c0004t0001g0149 a0002c0004t0002g0116 a0002c0016t0001g0097 a0002c0017t0001g0139	43	150	0.2867	-7	c.901 others(24): Show c.901+1921_901+1927delTTAGAAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	9/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245862092	TGTTTTCC TGTTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00544.hp1 others(40): Show HG00140.hp1 HG00140.hp2 HG00544.hp1 HG00597.hp1 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01433.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03491.hp2 HG03579.hp2 HG04115.hp1 HG04115.hp2 NA18962.hp1 NA18963.hp1 NA18984.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0001c0014 others(4): Show a0001c0002 a0001c0009 a0001c0014 a0002c0003 a0002c0004 a0002c0016 a0002c0017	a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 a0001c0014t0002 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0016t0001 a0002c0017t0001	a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0015 others(40): Show a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0086 a0001c0002t0002g0010 a0001c0002t0002g0024 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0048 a0001c0002t0002g0052 a0001c0002t0002g0061 a0001c0002t0002g0083 a0001c0009t0001g0002 a0001c0014t0002g0055 a0002c0003t0002g0150 a0002c0004t0001g0098 a0002c0004t0001g0107 a0002c0004t0001g0117 a0002c0004t0001g0128 a0002c0004t0001g0132 a0002c0004t0001g0134 a0002c0004t0001g0138 a0002c0004t0001g0143 a0002c0004t0001g0144 a0002c0004t0001g0146 a0002c0004t0001g0149 a0002c0004t0002g0116 a0002c0016t0001g0097 a0002c0017t0001g0139	43	150	0.2867	-7	c.901 others(24): Show c.901+1700_901+1706delGGAAAAC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	9/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246185466	TTTTTTTG TTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02886.hp1 HG03098.hp1 others(2): Show HG00735.hp2 HG02886.hp1 HG03098.hp1 HG03195.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0002c0003t0001 a0002c0004t0001	a0001c0001t0001g0064 a0001c0002t0001g0015 a0001c0006t0001g0014 others(2): Show a0001c0001t0001g0064 a0001c0002t0001g0015 a0001c0006t0001g0014 a0002c0003t0001g0114 a0002c0004t0001g0098	5	150	0.0333	-7	c.531 others(28): Show c.531+141728_531+141734delCAAAAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246228002	CCCAAACT CCCAAACT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(61): 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 HG01175.hp2 HG01243.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03225.hp2 HG03579.hp1 HG03831.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 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 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0006 others(11): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0017 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0009t0001 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001 a0005c0013t0002	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(61): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0002t0001g0012 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0002g0010 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0048 a0001c0002t0002g0061 a0001c0006t0001g0081 a0001c0009t0001g0002 a0001c0011t0002g0018 a0001c0012t0002g0057 a0001c0014t0002g0055 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0105 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0148 a0002c0003t0002g0104 a0002c0003t0002g0110 a0002c0003t0002g0129 a0002c0003t0002g0150 a0002c0004t0001g0098 a0002c0004t0001g0138 a0002c0005t0001g0115 a0002c0007t0001g0135 a0002c0007t0001g0137 a0002c0007t0001g0140 a0002c0007t0001g0141 a0002c0007t0004g0111 a0002c0008t0001g0112 a0002c0008t0001g0145 a0002c0008t0002g0142 a0002c0017t0001g0139 a0005c0013t0002g0050	64	150	0.4267	-7	c.531 others(26): Show c.531+99192_531+99198delAGTTTGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246375325	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 HG03130.hp2 others(2): Show HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03579.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 others(1): Show a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002	a0002c0003t0001g0096 a0002c0003t0002g0095 a0002c0004t0001g0117 others(2): Show a0002c0003t0001g0096 a0002c0003t0002g0095 a0002c0004t0001g0117 a0002c0004t0001g0146 a0002c0004t0002g0116	5	11	0.4545	-7	c.165 others(26): Show c.165-20238_165-20232delAAAAAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246378719	AATATATT AATATATT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01175.hp2 HG02109.hp1 others(5): Show HG00544.hp2 HG01175.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02647.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0003 others(2): Show a0001c0001 a0001c0009 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0053 a0001c0001t0002g0063 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0053 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0009t0001g0002 a0002c0003t0001g0127 a0002c0004t0001g0149 a0002c0005t0001g0113	8	150	0.0533	-7	c.165 others(26): Show c.165-23632_165-23626delAATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246475758	GCATGCAC GCATGCAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG03130.hp1 HG02257.hp1 HG02717.hp1 HG03130.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0017 a0002c0007 a0002c0008 a0002c0017	a0002c0007t0001 a0002c0008t0002 a0002c0017t0001 a0002c0007t0001 a0002c0008t0002 a0002c0017t0001	a0002c0007t0001g0140 a0002c0008t0002g0142 a0002c0017t0001g0139 a0002c0007t0001g0140 a0002c0008t0002g0142 a0002c0017t0001g0139	3	150	0.0200	-7	c.164 others(26): Show c.164+31289_164+31295delGTGCATG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246503954	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02145.hp1 HG02451.hp1 others(5): Show HG02027.hp2 HG02145.hp1 HG02451.hp1 HG02622.hp1 HG02809.hp1 HG02895.hp1 HG03195.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0003	a0001c0001t0001g0019 a0001c0001t0001g0064 a0001c0001t0001g0065 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0002g0020 a0001c0001t0002g0063 a0001c0002t0001g0066 a0001c0006t0003g0001	8	19	0.4211	-7	c.164 others(24): Show c.164+3093_164+3099delTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD4_chr17_1774485_1834902	1785769	AAAAAAAG AAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02809.hp2 others(8): Show HG01109.hp1 HG02622.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03139.hp1 HG03486.hp1 HG03486.hp2 NA20129.hp2	a0004 a0013 a0016 a0004 a0013 a0016	a0004c0007 a0013c0011 a0016c0017 a0004c0007 a0013c0011 a0016c0017	a0004c0007t0003 a0013c0011t0004 a0016c0017t0002 a0004c0007t0003 a0013c0011t0004 a0016c0017t0002	a0004c0007t0003g0211 a0004c0007t0003g0212 a0004c0007t0003g0213 others(7): Show a0004c0007t0003g0211 a0004c0007t0003g0212 a0004c0007t0003g0213 a0004c0007t0003g0214 a0004c0007t0003g0215 a0013c0011t0004g0003 a0013c0011t0004g0060 a0016c0017t0002g0337 a0016c0017t0002g0338 a0016c0017t0002g0339	11	388	0.0284	-7	c.188 others(26): Show c.1884+1034_1884+1040delCTTTTTT	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	7/10			chr17	TogoVar
SMYD4_chr17_1774485_1834902	1825507	CTTTCTTT CTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp1 HG01975.hp1 others(5): Show HG00597.hp2 HG01099.hp1 HG01975.hp1 NA18940.hp1 NA18944.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1	a0003 a0012 a0003 a0012	a0003c0003 a0012c0012 a0003c0003 a0012c0012	a0003c0003t0004 a0012c0012t0007 a0003c0003t0004 a0012c0012t0007	a0003c0003t0004g0071 a0003c0003t0004g0073 a0003c0003t0004g0074 others(4): Show a0003c0003t0004g0071 a0003c0003t0004g0073 a0003c0003t0004g0074 a0003c0003t0004g0075 a0012c0012t0007g0005 a0012c0012t0007g0072 a0012c0012t0007g0076	8	330	0.0242	-7	c.134 others(24): Show c.134+2347_134+2353delAAAGAAA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	2/10			chr17	TogoVar
SNAI1_chr20_49977980_49993886	49991714	CAAAAAAA CAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02451.hp2 others(7): Show HG01243.hp1 HG01884.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02896.hp2 HG03139.hp1 HG03579.hp1 NA19074.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0004 a0002c0002t0002 a0002c0002t0007 others(2): Show a0001c0001t0004 a0002c0002t0002 a0002c0002t0007 a0002c0002t0015 a0004c0004t0002	a0001c0001t0004g0003 a0002c0002t0002g0008 a0002c0002t0002g0017 others(3): Show a0001c0001t0004g0003 a0002c0002t0002g0008 a0002c0002t0002g0017 a0002c0002t0007g0002 a0002c0002t0015g0018 a0004c0004t0002g0019	10	50	0.2000	-7	c.36 others(18): Show c.3659_*3665delAAAAAAA	SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding		2829		chr20	TogoVar
SNAI3_chr16_88672688_88691507	88682762	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02109.hp2 others(20): Show HG01109.hp2 HG01243.hp1 HG02109.hp2 HG02280.hp2 HG02293.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0005 a0001c0001t0002g0041 a0001c0001t0002g0082 others(8): Show a0001c0001t0002g0005 a0001c0001t0002g0041 a0001c0001t0002g0082 a0001c0001t0002g0114 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0107 a0001c0001t0008g0115 a0001c0001t0008g0149	23	70	0.3286	-7	c.77- others(22): Show c.77-1055_77-1049delAAAAAAA	SNAI3	ENSG00000185669.6	transcript	ENST00000332281.6	protein_coding	1/2			chr16	TogoVar
SNAP25_chr20_10213830_10312418	10263009	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02559.hp1 others(3): Show HG02055.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG03098.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0274 a0001c0001t0001g0323 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0274 a0001c0001t0001g0323 a0001c0001t0003g0076 a0001c0001t0005g0234 a0001c0002t0001g0222	6	49	0.1224	-7	c.-63 others(26): Show c.-63-12399_-63-12393delTTTTTTT	SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNAP47_chr1_227730435_227786226	227736502	GTTTTTTT GTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp1 HG01975.hp1 others(19): Show HG00438.hp2 HG01255.hp1 HG01975.hp1 HG02071.hp2 HG02074.hp1 HG02165.hp1 HG02523.hp2 HG03139.hp2 HG03453.hp1 HG04115.hp2 NA18612.hp2 NA18945.hp2 NA18953.hp2 NA18962.hp1 NA18967.hp2 NA18970.hp2 NA18999.hp1 NA19000.hp1 NA19010.hp2 NA19011.hp1 NA19058.hp1 NA19079.hp2	a0003 a0006 a0009 a0003 a0006 a0009	a0003c0003 a0003c0006 a0006c0007 others(1): Show a0003c0003 a0003c0006 a0006c0007 a0009c0009	a0003c0003t0001 a0003c0006t0001 a0006c0007t0001 others(1): Show a0003c0003t0001 a0003c0006t0001 a0006c0007t0001 a0009c0009t0001	a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 others(17): Show a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0134 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0144 a0003c0006t0001g0007 a0003c0006t0001g0133 a0003c0006t0001g0135 a0003c0006t0001g0143 a0006c0007t0001g0054 a0009c0009t0001g0127	22	47	0.4681	-7	c.-46 others(24): Show c.-46+1032_-46+1038delTTTTTTT	SNAP47	ENSG00000143740.15	transcript	ENST00000617596.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar

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